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_7400
|
Gene CASR (calcium sensing receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 8
|
TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
|
TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCAAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
|
Task1_train_7401
|
A variant was discovered in gene CASR (calcium sensing receptor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Neonatal severe primary hyperparathyroidism
|
TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCAAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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Task1_train_7402
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This variant impacts the gene CASR (calcium sensing receptor) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Familial hypocalciuric hypercalcemia
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCAAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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Task1_train_7403
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Located on Chromosome 3, this mutation impacts CASR (calcium sensing receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Familial hypocalciuric hypercalcemia
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCAAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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Task1_train_7404
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Mutation context: Chromosome 3, Gene CASR (calcium sensing receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Autosomal dominant hypocalcemia 1
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCAAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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Task1_train_7405
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This is a variant in CASR (calcium sensing receptor), located on Chromosome 3. Is this mutation a likely cause of disease or not?
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Pathogenic; Nephrolithiasis/nephrocalcinosis
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCAAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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Task1_train_7406
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This mutation occurs in CASR (calcium sensing receptor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Neonatal severe primary hyperparathyroidism
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCTAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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Task1_train_7407
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This variant affects the gene CASR (calcium sensing receptor) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Autosomal dominant hypocalcemia 1
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCTAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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Task1_train_7408
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A sequence alteration has been identified in CASR (calcium sensing receptor) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Familial hypocalciuric hypercalcemia
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCTAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCA
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Task1_train_7409
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Gene CASR (calcium sensing receptor) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Autosomal dominant hypocalcemia 1
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CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCAGAGCTTCTTTCTTCACACGGAACCCCTACCTTGCCAAGATAGAGGTGCTGTAAT
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CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCGGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCAGAGCTTCTTTCTTCACACGGAACCCCTACCTTGCCAAGATAGAGGTGCTGTAAT
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Task1_train_7410
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A mutation found in CASR (calcium sensing receptor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Familial hypocalciuric hypercalcemia
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CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCAGAGCTTCTTTCTTCACACGGAACCCCTACCTTGCCAAGATAGAGGTGCTGTAAT
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CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCGGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCAGAGCTTCTTTCTTCACACGGAACCCCTACCTTGCCAAGATAGAGGTGCTGTAAT
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Task1_train_7411
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Gene CASR (calcium sensing receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Autosomal dominant hypocalcemia 1
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CATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCAGAGCTTCTTTCTTCACACGGAACCCCTACCTTGCCAAGATAGAGGTGCTGTAATAAAGGTCAGGCACTCTAAAGTCTTCAGGAGTGATGATGCTAAGGTATGGGGTTTTAAGTAGGAGGAGTAAGGGAGCAATCTTCTAGGTGGTTGTTACTATTGTCTTTTCTTTCTTACCTCTCACGTCCAATGCAAGGAGGACCTCAGTTCTTGAA
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CATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCAAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCAGAGCTTCTTTCTTCACACGGAACCCCTACCTTGCCAAGATAGAGGTGCTGTAATAAAGGTCAGGCACTCTAAAGTCTTCAGGAGTGATGATGCTAAGGTATGGGGTTTTAAGTAGGAGGAGTAAGGGAGCAATCTTCTAGGTGGTTGTTACTATTGTCTTTTCTTTCTTACCTCTCACGTCCAATGCAAGGAGGACCTCAGTTCTTGAA
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Task1_train_7412
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Gene CASR (calcium sensing receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Familial hypocalciuric hypercalcemia
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CATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCAGAGCTTCTTTCTTCACACGGAACCCCTACCTTGCCAAGATAGAGGTGCTGTAATAAAGGTCAGGCACTCTAAAGTCTTCAGGAGTGATGATGCTAAGGTATGGGGTTTTAAGTAGGAGGAGTAAGGGAGCAATCTTCTAGGTGGTTGTTACTATTGTCTTTTCTTTCTTACCTCTCACGTCCAATGCAAGGAGGACCTCAGTTCTTGAA
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CATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAGAGCACTCCCACCAGGGTTGATCAGCTTCCTCTGTTTGCTCCATGTGTTGCCATAATGTGAAAAGAAGTGGGAAAGCTCTGCACTAACTAATGCTTTACATGGTATTTGGCTACTTCTTCAAGCAACGATCTCTTAACATCAAGGGCAAGACTTTCTTCCCTTGGTAGTCCACACCCTTGCTCAGATGCAGAAGTGGCTATGTCTTAGAGAGTGCAAACATGTCAAGACAGCTTCTCCAGGGTTCCTGTTCAGCCTCTTAAGATTTTCAAGACCCATATCAAAAGCCTGTCAAGCAGGCTCAGCCATCACCTATAACTGAATAAAGGAAAGGGCTCTGGAAGGTGCTTCCCAATGGAAGATTCTTCACAATGCGACCTTCAAAAGTGGGTCTGCTAACAATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACAAGTACCCTAGAACTTAAAGTATAATAAAAAAAAAAAAAAAGTGGGTCTGGCCATAAAATCAATCCAACAATAGTGGGATGGAGAGGAAGGGAGGTTTTTCTGATGATATTTAATTACATACGTCATTGTTATTGTGATACAGGGGGATTGAGCCTAGTGGTCTTAGTGGTCTAATTGAGCCTAAAAGAAACAGTTCTCAGAAATGACTGCAATTAAGCTTAGTTTTTTCTAAAGTACTGGGGTGCGGGGAGGAGAGGGAGGAGGAGGAATAACCAGAGGAGGGGAAGAGAGAAATTAGGCAGAATAAGAAAAGGGAATTCCCGGGGACTCCTCTGAAGAGCCTTAAGTTTATAATCCATGGGGAACCCGATTCCTTCCACAGGCAAATTATGAACAAAGTGTTTATTGCAGTAAAGGGAAGTTAAACTCTTCAGATCAGAAGCTGAGCCCAACAAGCCAAAGTTGTGTACATGGATATATTATAACCAATGAGGCAGCACAGAGGAGGTTAGAGAAGACATGAAACGGTGCATAAAGACTCTTCTTGAAAGGCTAAGTACATCCCACTATTGTTGGGTTGATTTTATGGCCAGACCCAGTTTTGAAGTTAGCATTGTGAAGAATCATCCATTGGGAATTGGGATGCTCCCTCAAAGACTGAAAGGTGCTTAAGTGCTCACTCTGGAGTGGAACAGATGCTGCTTTTCCTTACCCTTTCTTTCATCCTGTATACAGTGAACAGCATAGTTGATAAATGAGACCAAGGCATGCTCAGAAAGCCACCTCCACAACAGCCTGGAGGCTCACTCAGCACCTCTTCACTCACTCACTCACTCATTCACCATGTTCTTGGTTCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGTGAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAAAATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATCAAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCAAGGCCTGGGCCAGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTCGCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGGAAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTCCAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGTGGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAACATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTGTACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGGAGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTGCGTCCTTCACTTATATAGCAATTTGCTGTATAATAAAGCAGAGTTGGGCTGCAACTCCAGGCAAGAAAAATAGTGGTCATTTGAAAAGGGCAATATTTAAATGAAGCCACTAAATGGAGCTTTGGATTCAAAGTACCTTTTTTAAATCTTGAGCAACTGATTTGAACAAAATTGATAGTAATTTGATTATCTATTTAAAGCCTTGAGTCAACTGTTCTTTAGTCCAGTGATTCAGAATAACTGAAGTATGGTCCCCAAAAGTTTTCAAATATCCCAGAACAGATTTAGTAATGAGTGGGGTATTTTTCTAATGTCTAAATTATCAATATTGTTCCCTTGTGAGTAAGAAGTATTTTTTGAGTACCTATTACATTCCATATACTAAGTGGCATAAAGCTAGTATTATTGTGTTTAGCCACCACTTTTGCCATTACATTACTGACAGCCTATACCAAGCCACCCAGCAGGTCAGCTAAGCACAGCTTAGGACAAAAGCAAATCAAAGACACAGAAAACAAAAACTCTTTGTAAAAAGATTTGATATTGAGTGTTTCAAAAAGAAGCACTGAAGTGGTTATCATAGAAAAAATCAGAACTTAAGAGGAGTTCCCACACTTGTTTAGCCTTGTTTTGTATTTTTGAATTACACACAGGAGAGACATCATAATCTTTTTCATTTCAAGAGCTTATATCCTAAATAGCTGTTCGGGTCTTGCATATGTGCCTTATTTTTTTCAATCAGACCATGTTTCACACTCCTTTTGTATTTTCCTTAGTTCCAAACTGACCTATCAGAGAGATTGCATGACAGTGGAGAGGGCGGGAATTCCTGAATTTGAATGGAATGTGCCAGCCTCCAGCTCCCCCATTTCCTAGCTGTGTGATCTTAGGCAAACCATGGCTGTAAGTCACAGTGTCTCCATCTGTGACACAGACTTAATGTCTAGCTTACTTTCCACTCAATGTTCTTTTGACTTAGGTTCATGACATTAAATGACATGATATATGTAAAAGCAATTTGTAAACTTTCAAGCTCTAAACAGATGTGTGATTATTATAGTAGGATTTCAGTACAGCTCTAATTAATCCATGAATTAGGTAAAAATGATAACTAGAACACCTTTGTATACAGAACCCAACCACCACAAACCCTTTGGGAAGGATACCAAGAAGCAAAAAGCACACAACTTGTATCAGTCACTGTAGAGATTCTCATGAAAGACAAGGAGTGACTGTCTAAGTTGGTCAAATAGGCCAGAATCTTCAAGTTCTCAGCCCTTCTTATATGGGAACCTCTTACCCAACCATCACTGTTGGCTAAAGTTTCTAACTTCTGTGGGGTACTCAGAGCTTCTTTCTTCACACGGAACCCCTACCTTGCCAAGATAGAGGTGCTGTAATAAAGGTCAGGCACTCTAAAGTCTTCAGGAGTGATGATGCTAAGGTATGGGGTTTTAAGTAGGAGGAGTAAGGGAGCAATCTTCTAGGTGGTTGTTACTATTGTCTTTTCTTTCTTACCTCTCACGTCCAATGCAAGGAGGACCTCAGTTCTTGAA
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Task1_train_7413
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Given this context: Chromosome 3, gene CASR (calcium sensing receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Familial hypocalciuric hypercalcemia
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AACAAAAACCACATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTCTTTAATGGGGAAAATTTAGAAGCATTCCTAGTGTGGGTTTGGAAAACAGGGCCTTTAGCTTTCATTGAGTGATCAAATGGGTTGGCAACTCAAGGACTGAGAGCACATCTCTGAGGATACCTTGTCACCATAGTTGAAGATGATGATGTGAGTTGTCCTTTTCCCTCCCCTCCCCTTCCCTTCCCTGGGTCATGAGAGTCTTGGCAATCATCAGGTCCATTACTGCCTTTCCATTCCTCATTCATTAGAAGATAATGTCAATCATCTTCTGTTCAAGTTTTTTTTAACTCCTTTGTCAAGCCAGTCATTTCTGCTAGAAACAACGACAGCTACTTTACTGCTTTCTGTGTTTGTAAGACATCTTACAAAGTAGTAGGTAGAGGGGAGACCCATTAAATAGACATTATGGAAATAGTAAAAGCCCTACTATGTATTAAGCATTACTCCAGGCTTTGTACCTGGGGTTACAAAGATGAGTGAGAAGTGCTCTCTACCTCTAAGATACATATGCTGTTGCAAAACGGACTTCATTCTTATGATACATTTCTTGTCTTTGAAACATATACATTGTTAGATAGTAAATGACTAATAAATTCCTAGAATGAATAATCAATTAGCTGGTGCAAAGAATGAGATAGAAGCAGGACTTCTTGAAATGGTGAAGCAATGATAAAATTGAACAAAACTGGACAAAAACCACTGAAGAACCTGGAAGTTAACCAGAAGCACACAACAAAAGGTGAAGGGTTTTGTTTATTTGTTTTGTTTTGTTTTGTTTTTAACAAAAACTAATGAAATTCTGGTAAGAACACTGGTAGTCTATGGCATTTTAGCCTGGGCCTGCTCTTCAGTTGTTTCTAATAATTCGGTTGTTCTTTTGGGTTTTCTTTATGGCAACCATATCATCTGCAAATAACTACAGTTTTATTTGGTCCTTTTCAAAATGTATGCACTTATTTTTCTTGTCTGATTCCACTAGCTAAGACCTCCAGTGCAAAGTTAAAGAGTAGTGGTGATAGTGGATATCCTTGTTTTAAATGGAAATACTTTTAATGTTTTCTCTATATGAATGATGTTTACTCTAAGAGGTTTTTTGTTACCCTTTTTCAAGTTAAAGATATTTCTTCCCACTCCTTTTTTACTAAGCTTTTATCAATAGTTTGTGTTGGATTTCATCAAATGCTTTTTATTTATCTGTTGGTGATCATATGATTTTTTTTCTCCATTAATTTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCC
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AACAAAAACCACATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTCTTTAATGGGGAAAATTTAGAAGCATTCCTAGTGTGGGTTTGGAAAACAGGGCCTTTAGCTTTCATTGAGTGATCAAATGGGTTGGCAACTCAAGGACTGAGAGCACATCTCTGAGGATACCTTGTCACCATAGTTGAAGATGATGATGTGAGTTGTCCTTTTCCCTCCCCTCCCCTTCCCTTCCCTGGGTCATGAGAGTCTTGGCAATCATCAGGTCCATTACTGCCTTTCCATTCCTCATTCATTAGAAGATAATGTCAATCATCTTCTGTTCAAGTTTTTTTTAACTCCTTTGTCAAGCCAGTCATTTCTGCTAGAAACAACGACAGCTACTTTACTGCTTTCTGTGTTTGTAAGACATCTTACAAAGTAGTAGGTAGAGGGGAGACCCATTAAATAGACATTATGGAAATAGTAAAAGCCCTACTATGTATTAAGCATTACTCCAGGCTTTGTACCTGGGGTTACAAAGATGAGTGAGAAGTGCTCTCTACCTCTAAGATACATATGCTGTTGCAAAACGGACTTCATTCTTATGATACATTTCTTGTCTTTGAAACATATACATTGTTAGATAGTAAATGACTAATAAATTCCTAGAATGAATAATCAATTAGCTGGTGCAAAGAATGAGATAGAAGCAGGACTTCTTGAAATGGTGAAGCAATGATAAAATTGAACAAAACTGGACAAAAACCACTGAAGAACCTGGAAGTTAACCAGAAGCACACAACAAAAGGTGAAGGGTTTTGTTTATTTGTTTTGTTTTGTTTTGTTTTTAACAAAAACTAATGAAATTCTGGTAAGAACACTGGTAGTCTATGGCATTTTAGCCTGGGCCTGCTCTTCAGTTGTTTCTAATAATTCGGTTGTTCTTTTGGGTTTTCTTTATGGCAACCATATCATCTGCAAATAACTACAGTTTTATTTGGTCCTTTTCAAAATGTATGCACTTATTTTTCTTGTCTGATTCCACTAGCTAAGACCTCCAGTGCAAAGTTAAAGAGTAGTGGTGATAGTGGATATCCTTGTTTTAAATGGAAATACTTTTAATGTTTTCTCTATATGAATGATGTTTACTCTAAGAGGTTTTTTGTTACCCTTTTTCAAGTTAAAGATATTTCTTCCCACTCCTTTTTTACTAAGCTTTTATCAATAGTTTGTGTTGGATTTCATCAAATGCTTTTTATTTATCTGTTGGTGATCATATGATTTTTTTTCTCCATTAATTTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAAGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCC
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Task1_train_7414
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Located on Chromosome 3, this mutation impacts CASR (calcium sensing receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal dominant hypocalcemia 1
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AACAAAAACCACATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTCTTTAATGGGGAAAATTTAGAAGCATTCCTAGTGTGGGTTTGGAAAACAGGGCCTTTAGCTTTCATTGAGTGATCAAATGGGTTGGCAACTCAAGGACTGAGAGCACATCTCTGAGGATACCTTGTCACCATAGTTGAAGATGATGATGTGAGTTGTCCTTTTCCCTCCCCTCCCCTTCCCTTCCCTGGGTCATGAGAGTCTTGGCAATCATCAGGTCCATTACTGCCTTTCCATTCCTCATTCATTAGAAGATAATGTCAATCATCTTCTGTTCAAGTTTTTTTTAACTCCTTTGTCAAGCCAGTCATTTCTGCTAGAAACAACGACAGCTACTTTACTGCTTTCTGTGTTTGTAAGACATCTTACAAAGTAGTAGGTAGAGGGGAGACCCATTAAATAGACATTATGGAAATAGTAAAAGCCCTACTATGTATTAAGCATTACTCCAGGCTTTGTACCTGGGGTTACAAAGATGAGTGAGAAGTGCTCTCTACCTCTAAGATACATATGCTGTTGCAAAACGGACTTCATTCTTATGATACATTTCTTGTCTTTGAAACATATACATTGTTAGATAGTAAATGACTAATAAATTCCTAGAATGAATAATCAATTAGCTGGTGCAAAGAATGAGATAGAAGCAGGACTTCTTGAAATGGTGAAGCAATGATAAAATTGAACAAAACTGGACAAAAACCACTGAAGAACCTGGAAGTTAACCAGAAGCACACAACAAAAGGTGAAGGGTTTTGTTTATTTGTTTTGTTTTGTTTTGTTTTTAACAAAAACTAATGAAATTCTGGTAAGAACACTGGTAGTCTATGGCATTTTAGCCTGGGCCTGCTCTTCAGTTGTTTCTAATAATTCGGTTGTTCTTTTGGGTTTTCTTTATGGCAACCATATCATCTGCAAATAACTACAGTTTTATTTGGTCCTTTTCAAAATGTATGCACTTATTTTTCTTGTCTGATTCCACTAGCTAAGACCTCCAGTGCAAAGTTAAAGAGTAGTGGTGATAGTGGATATCCTTGTTTTAAATGGAAATACTTTTAATGTTTTCTCTATATGAATGATGTTTACTCTAAGAGGTTTTTTGTTACCCTTTTTCAAGTTAAAGATATTTCTTCCCACTCCTTTTTTACTAAGCTTTTATCAATAGTTTGTGTTGGATTTCATCAAATGCTTTTTATTTATCTGTTGGTGATCATATGATTTTTTTTCTCCATTAATTTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCC
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AACAAAAACCACATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTCTTTAATGGGGAAAATTTAGAAGCATTCCTAGTGTGGGTTTGGAAAACAGGGCCTTTAGCTTTCATTGAGTGATCAAATGGGTTGGCAACTCAAGGACTGAGAGCACATCTCTGAGGATACCTTGTCACCATAGTTGAAGATGATGATGTGAGTTGTCCTTTTCCCTCCCCTCCCCTTCCCTTCCCTGGGTCATGAGAGTCTTGGCAATCATCAGGTCCATTACTGCCTTTCCATTCCTCATTCATTAGAAGATAATGTCAATCATCTTCTGTTCAAGTTTTTTTTAACTCCTTTGTCAAGCCAGTCATTTCTGCTAGAAACAACGACAGCTACTTTACTGCTTTCTGTGTTTGTAAGACATCTTACAAAGTAGTAGGTAGAGGGGAGACCCATTAAATAGACATTATGGAAATAGTAAAAGCCCTACTATGTATTAAGCATTACTCCAGGCTTTGTACCTGGGGTTACAAAGATGAGTGAGAAGTGCTCTCTACCTCTAAGATACATATGCTGTTGCAAAACGGACTTCATTCTTATGATACATTTCTTGTCTTTGAAACATATACATTGTTAGATAGTAAATGACTAATAAATTCCTAGAATGAATAATCAATTAGCTGGTGCAAAGAATGAGATAGAAGCAGGACTTCTTGAAATGGTGAAGCAATGATAAAATTGAACAAAACTGGACAAAAACCACTGAAGAACCTGGAAGTTAACCAGAAGCACACAACAAAAGGTGAAGGGTTTTGTTTATTTGTTTTGTTTTGTTTTGTTTTTAACAAAAACTAATGAAATTCTGGTAAGAACACTGGTAGTCTATGGCATTTTAGCCTGGGCCTGCTCTTCAGTTGTTTCTAATAATTCGGTTGTTCTTTTGGGTTTTCTTTATGGCAACCATATCATCTGCAAATAACTACAGTTTTATTTGGTCCTTTTCAAAATGTATGCACTTATTTTTCTTGTCTGATTCCACTAGCTAAGACCTCCAGTGCAAAGTTAAAGAGTAGTGGTGATAGTGGATATCCTTGTTTTAAATGGAAATACTTTTAATGTTTTCTCTATATGAATGATGTTTACTCTAAGAGGTTTTTTGTTACCCTTTTTCAAGTTAAAGATATTTCTTCCCACTCCTTTTTTACTAAGCTTTTATCAATAGTTTGTGTTGGATTTCATCAAATGCTTTTTATTTATCTGTTGGTGATCATATGATTTTTTTTCTCCATTAATTTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAAGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCC
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Task1_train_7415
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Chromosome 3 houses a mutation in gene CASR (calcium sensing receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Familial hypocalciuric hypercalcemia 1
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ATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTCTTTAATGGGGAAAATTTAGAAGCATTCCTAGTGTGGGTTTGGAAAACAGGGCCTTTAGCTTTCATTGAGTGATCAAATGGGTTGGCAACTCAAGGACTGAGAGCACATCTCTGAGGATACCTTGTCACCATAGTTGAAGATGATGATGTGAGTTGTCCTTTTCCCTCCCCTCCCCTTCCCTTCCCTGGGTCATGAGAGTCTTGGCAATCATCAGGTCCATTACTGCCTTTCCATTCCTCATTCATTAGAAGATAATGTCAATCATCTTCTGTTCAAGTTTTTTTTAACTCCTTTGTCAAGCCAGTCATTTCTGCTAGAAACAACGACAGCTACTTTACTGCTTTCTGTGTTTGTAAGACATCTTACAAAGTAGTAGGTAGAGGGGAGACCCATTAAATAGACATTATGGAAATAGTAAAAGCCCTACTATGTATTAAGCATTACTCCAGGCTTTGTACCTGGGGTTACAAAGATGAGTGAGAAGTGCTCTCTACCTCTAAGATACATATGCTGTTGCAAAACGGACTTCATTCTTATGATACATTTCTTGTCTTTGAAACATATACATTGTTAGATAGTAAATGACTAATAAATTCCTAGAATGAATAATCAATTAGCTGGTGCAAAGAATGAGATAGAAGCAGGACTTCTTGAAATGGTGAAGCAATGATAAAATTGAACAAAACTGGACAAAAACCACTGAAGAACCTGGAAGTTAACCAGAAGCACACAACAAAAGGTGAAGGGTTTTGTTTATTTGTTTTGTTTTGTTTTGTTTTTAACAAAAACTAATGAAATTCTGGTAAGAACACTGGTAGTCTATGGCATTTTAGCCTGGGCCTGCTCTTCAGTTGTTTCTAATAATTCGGTTGTTCTTTTGGGTTTTCTTTATGGCAACCATATCATCTGCAAATAACTACAGTTTTATTTGGTCCTTTTCAAAATGTATGCACTTATTTTTCTTGTCTGATTCCACTAGCTAAGACCTCCAGTGCAAAGTTAAAGAGTAGTGGTGATAGTGGATATCCTTGTTTTAAATGGAAATACTTTTAATGTTTTCTCTATATGAATGATGTTTACTCTAAGAGGTTTTTTGTTACCCTTTTTCAAGTTAAAGATATTTCTTCCCACTCCTTTTTTACTAAGCTTTTATCAATAGTTTGTGTTGGATTTCATCAAATGCTTTTTATTTATCTGTTGGTGATCATATGATTTTTTTTCTCCATTAATTTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACC
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ATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTCTTTAATGGGGAAAATTTAGAAGCATTCCTAGTGTGGGTTTGGAAAACAGGGCCTTTAGCTTTCATTGAGTGATCAAATGGGTTGGCAACTCAAGGACTGAGAGCACATCTCTGAGGATACCTTGTCACCATAGTTGAAGATGATGATGTGAGTTGTCCTTTTCCCTCCCCTCCCCTTCCCTTCCCTGGGTCATGAGAGTCTTGGCAATCATCAGGTCCATTACTGCCTTTCCATTCCTCATTCATTAGAAGATAATGTCAATCATCTTCTGTTCAAGTTTTTTTTAACTCCTTTGTCAAGCCAGTCATTTCTGCTAGAAACAACGACAGCTACTTTACTGCTTTCTGTGTTTGTAAGACATCTTACAAAGTAGTAGGTAGAGGGGAGACCCATTAAATAGACATTATGGAAATAGTAAAAGCCCTACTATGTATTAAGCATTACTCCAGGCTTTGTACCTGGGGTTACAAAGATGAGTGAGAAGTGCTCTCTACCTCTAAGATACATATGCTGTTGCAAAACGGACTTCATTCTTATGATACATTTCTTGTCTTTGAAACATATACATTGTTAGATAGTAAATGACTAATAAATTCCTAGAATGAATAATCAATTAGCTGGTGCAAAGAATGAGATAGAAGCAGGACTTCTTGAAATGGTGAAGCAATGATAAAATTGAACAAAACTGGACAAAAACCACTGAAGAACCTGGAAGTTAACCAGAAGCACACAACAAAAGGTGAAGGGTTTTGTTTATTTGTTTTGTTTTGTTTTGTTTTTAACAAAAACTAATGAAATTCTGGTAAGAACACTGGTAGTCTATGGCATTTTAGCCTGGGCCTGCTCTTCAGTTGTTTCTAATAATTCGGTTGTTCTTTTGGGTTTTCTTTATGGCAACCATATCATCTGCAAATAACTACAGTTTTATTTGGTCCTTTTCAAAATGTATGCACTTATTTTTCTTGTCTGATTCCACTAGCTAAGACCTCCAGTGCAAAGTTAAAGAGTAGTGGTGATAGTGGATATCCTTGTTTTAAATGGAAATACTTTTAATGTTTTCTCTATATGAATGATGTTTACTCTAAGAGGTTTTTTGTTACCCTTTTTCAAGTTAAAGATATTTCTTCCCACTCCTTTTTTACTAAGCTTTTATCAATAGTTTGTGTTGGATTTCATCAAATGCTTTTTATTTATCTGTTGGTGATCATATGATTTTTTTTCTCCATTAATTTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAAGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACC
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Task1_train_7416
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The following genetic variant occurs in CASR (calcium sensing receptor) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Autosomal dominant hypocalcemia 1
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TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCC
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TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTATAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCC
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Task1_train_7417
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The gene CASR (calcium sensing receptor) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Familial hypocalciuric hypercalcemia
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TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCC
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TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTATAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCC
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Task1_train_7418
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A mutation found in CASR (calcium sensing receptor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Familial hypocalciuric hypercalcemia 1
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TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCC
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TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTTTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCC
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Task1_train_7419
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Gene CASR (calcium sensing receptor) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Autosomal dominant hypocalcemia
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCAAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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Task1_train_7420
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A mutation found in CASR (calcium sensing receptor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Familial hypocalciuric hypercalcemia 1
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCAAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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Task1_train_7421
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A mutation in CASR (calcium sensing receptor), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Autosomal dominant hypocalcemia 1
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCAAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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Task1_train_7422
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This variant affects gene CASR (calcium sensing receptor) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
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Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 8
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCAAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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Task1_train_7423
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This is a variant in CASR (calcium sensing receptor), located on Chromosome 3. Is this mutation a likely cause of disease or not?
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Pathogenic; Neonatal severe primary hyperparathyroidism
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCAAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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Task1_train_7424
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Here is a genetic alteration in CASR (calcium sensing receptor) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Familial hypocalciuric hypercalcemia
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCAAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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Task1_train_7425
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Consider this mutation in CASR (calcium sensing receptor) on Chromosome 3. Is this a benign change or a disease-causing variant?
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Pathogenic; Autosomal dominant hypocalcemia 1
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCAAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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Task1_train_7426
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Here is a genetic alteration in CASR (calcium sensing receptor) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Nephrolithiasis/nephrocalcinosis
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCAAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATC
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Task1_train_7427
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Located on Chromosome 3, this mutation impacts CASR (calcium sensing receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Nephrolithiasis/nephrocalcinosis
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TTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGG
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TTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTCTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGG
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Task1_train_7428
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The variant affects gene CASR (calcium sensing receptor), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Autosomal dominant hypocalcemia 1
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TGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCA
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TGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCAGTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCA
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Task1_train_7429
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A variant affecting Chromosome 3, within the gene CASR (calcium sensing receptor), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Familial hypocalciuric hypercalcemia
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TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCT
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TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCAGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCT
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Task1_train_7430
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This alteration in CASR (calcium sensing receptor) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Autosomal dominant hypocalcemia 1
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TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCT
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TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCAGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCT
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Task1_train_7431
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Here’s a variant in CASR (calcium sensing receptor) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Autosomal dominant hypocalcemia
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TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCT
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TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCAGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCT
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Task1_train_7432
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Here’s a variant in CASR (calcium sensing receptor) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Autosomal dominant hypocalcemia 1
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TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCT
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TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCCGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCT
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Task1_train_7433
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The gene CASR (calcium sensing receptor), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Familial hypocalciuric hypercalcemia
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TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCT
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TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCCGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCT
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Task1_train_7434
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This mutation occurs in CASR (calcium sensing receptor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Neonatal severe primary hyperparathyroidism
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TTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTC
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TTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGAGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTC
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Task1_train_7435
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This alteration in CASR (calcium sensing receptor) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Autosomal dominant hypocalcemia 1
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GAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTC
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GAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCATCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTC
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Task1_train_7436
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Gene CASR (calcium sensing receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Autosomal dominant hypocalcemia 1
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CTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCC
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CTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCAGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCC
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Task1_train_7437
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A variant on Chromosome 3 in gene CASR (calcium sensing receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Familial hypocalciuric hypercalcemia
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CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAA
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CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGTTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAA
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Task1_train_7438
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The gene CASR (calcium sensing receptor), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Familial hypocalciuric hypercalcemia
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CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAA
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CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGTTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAA
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Task1_train_7439
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Gene CASR (calcium sensing receptor) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Autosomal dominant hypocalcemia 1
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CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAA
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CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGTTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAA
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Task1_train_7440
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A variant was discovered on Chromosome 3, affecting CASR (calcium sensing receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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GTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTC
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GTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACCAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTC
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Task1_train_7441
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Here is a variant affecting CASR (calcium sensing receptor) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Autosomal dominant hypocalcemia 1
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AGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACT
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AGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCGGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACT
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Task1_train_7442
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A variant was discovered in gene CASR (calcium sensing receptor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Autosomal dominant hypocalcemia 1
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GCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATC
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GCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCCTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATC
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Task1_train_7443
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A sequence alteration has been identified in CASR (calcium sensing receptor) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Familial hypocalciuric hypercalcemia
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CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCT
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CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTGCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCT
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Task1_train_7444
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A genetic alteration is present in CASR (calcium sensing receptor) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Autosomal dominant hypocalcemia 1
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CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCT
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CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTGCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCT
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Task1_train_7445
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Assess the clinical impact of this variant on gene CASR (calcium sensing receptor), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Nephrolithiasis/nephrocalcinosis
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CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCT
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CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTGCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCT
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Task1_train_7446
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Gene CASR (calcium sensing receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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TTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTT
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TTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTGTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTT
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Task1_train_7447
|
A mutation on Chromosome 3 affecting CASR (calcium sensing receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Autosomal dominant hypocalcemia 1
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GCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTA
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GCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAACATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTA
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Task1_train_7448
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A change on Chromosome 3 affects gene CASR (calcium sensing receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Autosomal dominant hypocalcemia 1
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TGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCAC
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TGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTTCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCAC
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Task1_train_7449
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Given this variant in gene CASR (calcium sensing receptor) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Autosomal dominant hypocalcemia 1
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AAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCACACAATAAGCATTCAATAAATATTAGTTAATATTATTACTGATACTGTAATAATTATTTTTTCCCTTACT
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AAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGAAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCACACAATAAGCATTCAATAAATATTAGTTAATATTATTACTGATACTGTAATAATTATTTTTTCCCTTACT
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Task1_train_7450
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A change on Chromosome 3 affects gene CASR (calcium sensing receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Familial hypocalciuric hypercalcemia
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AGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCACACAATAAGCATTCAATAAATATTAGTTAATATTATTACTGATACTGTAATAATTATTTTTTCCCTTACTTCAAATACAAAACAAAACATACATATTAACCATTCAGATTGTACTGCCTAGCCCACTGATCACAATCACTCTCTCTGTAATAAGCCCAAGAGCTCTGGGCCCAACACATGGGGTCAGCCATAGTATCA
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AGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCTGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCACACAATAAGCATTCAATAAATATTAGTTAATATTATTACTGATACTGTAATAATTATTTTTTCCCTTACTTCAAATACAAAACAAAACATACATATTAACCATTCAGATTGTACTGCCTAGCCCACTGATCACAATCACTCTCTCTGTAATAAGCCCAAGAGCTCTGGGCCCAACACATGGGGTCAGCCATAGTATCA
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Task1_train_7451
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A variant found in Chromosome 3 affects CASR (calcium sensing receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Autosomal dominant hypocalcemia 1
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AGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCACACAATAAGCATTCAATAAATATTAGTTAATATTATTACTGATACTGTAATAATTATTTTTTCCCTTACTTCAAATACAAAACAAAACATACATATTAACCATTCAGATTGTACTGCCTAGCCCACTGATCACAATCACTCTCTCTGTAATAAGCCCAAGAGCTCTGGGCCCAACACATGGGGTCAGCCATAGTATCA
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AGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCTGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCACACAATAAGCATTCAATAAATATTAGTTAATATTATTACTGATACTGTAATAATTATTTTTTCCCTTACTTCAAATACAAAACAAAACATACATATTAACCATTCAGATTGTACTGCCTAGCCCACTGATCACAATCACTCTCTCTGTAATAAGCCCAAGAGCTCTGGGCCCAACACATGGGGTCAGCCATAGTATCA
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Task1_train_7452
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Given this context: Chromosome 3, gene CASR (calcium sensing receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Familial hypocalciuric hypercalcemia
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GGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCACACAATAAGCATTCAATAAATATTAGTTAATATTATTACTGATACTGTAATAATTATTTTTTCCCTTACTTCAAATACAAAACAAAACATACATATTAACCATTCAGATTGTACTGCCTAGCCCACTGATCACAATCACTCTCTCTGTAATAAGCCCAAGAGCTCTGGGCCCAACACATGGGGTCAGCCATAGTATCAC
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GGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCCGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCACACAATAAGCATTCAATAAATATTAGTTAATATTATTACTGATACTGTAATAATTATTTTTTCCCTTACTTCAAATACAAAACAAAACATACATATTAACCATTCAGATTGTACTGCCTAGCCCACTGATCACAATCACTCTCTCTGTAATAAGCCCAAGAGCTCTGGGCCCAACACATGGGGTCAGCCATAGTATCAC
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Task1_train_7453
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A variant was discovered in gene CASR (calcium sensing receptor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Autosomal dominant hypocalcemia 1
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GGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCACACAATAAGCATTCAATAAATATTAGTTAATATTATTACTGATACTGTAATAATTATTTTTTCCCTTACTTCAAATACAAAACAAAACATACATATTAACCATTCAGATTGTACTGCCTAGCCCACTGATCACAATCACTCTCTCTGTAATAAGCCCAAGAGCTCTGGGCCCAACACATGGGGTCAGCCATAGTATCAC
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GGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGAAGCTTGATCAAAGTCACATCACTAGTAAGTTGTATGGCCAGGATTCCATCCAGATCTCTAACTCCAAAACCCATGCTCCCTTCACTGCCCAAAACTGCATACTGCCTGGGAGTTAGCAGAGACTTAGTAAACAGTTGTCAGTTGAATGAGTCTGCAGCCTCCCTCATCAAAAAGCTGTGGATGTGGAGTGAGGAAAGCACAGGTCATGTGCATGGGATACTCTGCCTTGATCTAAAAGGAAGTCTGCTCTGGCATGTCTACAAAGCCCATCCATATATCCAAAATAAATCACTCTCCATGTGAGATGTCAGATATGTTCATTTGCCTCACTAGAGTAGCCAGTTTACTGCCCATATGTATCCCACAACATTATGTTGTAAACCTCAAATATTACCCAATAATATTTAAATAAATAAATCAGGCTAAGCTTGAATCATTCTGCGAAGAGTTGATGGACCATGCTAGACCTCTGGTGTGCAGGGCAGCCACCTGTCCAGCAAGGTTGATCATTCCCTGCCATCAGAAGATAGTGTTAAGTGAAACAAGGGCCTCACCCATGTCATGTGCAAAGGGAAAACAAACTAACAATAGAACCATCAGAGTTACATGAAATTAACCATGTTATTAAACATGTCGGGGTTCAGCATATTTTTGATAATGTAAAAATCAGAATGATTTCATCAAAATGGAGAAAATATGTAGTGACCACATCCAAAAAACTATGTATTCCCACCACCACATGTACACTCACACATTTTAGTCTGTGCCACACAATAACTCACTCTTCACTGGGACATTTTACAGATGCCAGTGCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGCCAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAACCGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGGCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTGATCTGGCTCTACACCGCGCCCCCGTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATCATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCCATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATTCTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCTTTCAAGGTGGCTGCCCCGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAAAATGGAAGGAGAAGACTGGGCTAGGGAGAATGCAGAGAGGTTTCTTGGGGTCCCAGGGAAGAGGAATCGCCCCAGACTCCTTTCCTCTGAGGAAGAAGGGATAATAGACACATCAAATGCCCCGAATTTAGTCACACCATCTTAAATGACAGTGAATTGACCCATGTTCCCTTTAAAATTAAAAAAAAGAAGAGCCTTGTGTTTCTGTGGTTGCATTTGTCAAAGCATTGAGATCTCCACGGTCAGATTTGCTGTTCACCCACATCTAATGTCTCTTCCTCTGTTCTATCCCACCCAACAGCTCAGAGATGAAACTATGGCTTTAAACTACCCTCCAGAGTGTGCAGACTGATGGGACATCAAATTTGCCACCACTAGAGCTGAGAGTCTGAAAGACAGAATGTCACCAGTCCTGCCCAATGCCTTGACAACAGACTGAATTTTAAATGTTCACAACATAAGGAGAATGTATCTCCTCCTATTTATGAAAACCATATGATATTTTGTCTCCTACCTGCTGCTGCTATTATGTAACATCCAGAAGGTTTGCACCCCTCCTATACCATATGTCTGCTTCTGTCCAGGACATGATACTGATGCCATGTTTAGATTCCAGGATCACAAGAATCACCTCAAATTGTTAGGAAGGGACTGCATAAACCAATGAGCTGTATCTGTAATTAATATTCCTATATGTAGCTTTATCCTTAGGAAAATGCTTCTGTTGTAATAGTCCATGGACAATATAAACTGAAAAATGTCAGTCTGGTTTATATAAGGCAGTATTATTGAGCTCTATTTCCCCACCCCACTATCCTCACTCCCATAAGCTAAGCCTTATGTGAGCCCCTTCAGGGACTCAAGGGTCCAGAAGTCCCTCCCATCTCTACCCCAAAGAATTCCTGAAGCCAGATCCACCCTATCCCTGTACAGAGTAAGTTCTCAATTATTGGCCTGCTAATAGCTGCTAGGGTAGGAAAGCGTGGTTCCAAGAAAGATCCACCCTCAAATGTCAGAGCTATGTTCCCTCCAGCAGTGGTATTAATACTGCCGGTCACCCAGGCTCTGGAGCCAGAGAGACAGACCGGGGTTCAAGCCATGGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTCTCTAAGCCACAGCTTCTTCATCTTTAAAATAAGGATAATAATCATTCTTTCCCCTCAGAGCTCTTATGTGGATTAAACGAGATAATGTATATAAAGTACTTTAGCCTGGTACCTAGCACACAATAAGCATTCAATAAATATTAGTTAATATTATTACTGATACTGTAATAATTATTTTTTCCCTTACTTCAAATACAAAACAAAACATACATATTAACCATTCAGATTGTACTGCCTAGCCCACTGATCACAATCACTCTCTCTGTAATAAGCCCAAGAGCTCTGGGCCCAACACATGGGGTCAGCCATAGTATCAC
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Task1_train_7454
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This alteration in ADCY5 (adenylate cyclase 5) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
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GCCTCCTGTGGCCGACGTCAGGATGGCAATGCAGAACTCAAAGGATGGAGCAGCAGAAGCACGGGACAGACTCAGGCTTGGCAGTTTTGGGTCCACACACTTTGCTTCTCAGAGCTGTGTTCAGTTGGTGTGCGGGGAGGGGAGGGTGGTGCTAGAGCCCAGTGAGAGGTGGTACAGGTGGACATCAAAGTCACATTGTGGCAGCTGGCACAGAGCCACTGCCTCATCACCTCCAAGCTCATGTTGGAGGTGAAGATCATTCTAACCTGAGAAGCAATGGAAAGATTTGGGCATGGGCCCTAAGGATTCCACTGAATTCTGTGCTAGAGTATCATTTTCCAAATGTCTTCCTCATAGGTTATAAAAATAGTATTTTTTTCTTGGTATGTTTAACTGCCCCCTCCCACTAAAACAAAATTCCTGCTAGCTTTCCCTGTGGACTCTAAAGCTGGGCTCTACCCATTCCTCTGCCTGGTTTGCCGGTGGAGGTCAAGGCCACTCCCTTTCCGCAAACCTGAAGGCTGCACATTGCATCCCCCAGTCTGAGTGAACATCTCCAGGAAGAGCCACCTGCACCTTGGCCAACTGAGTAGGCCAGGGAGGCTTGGCTTCCTCGTCCCAGCCTGCAAAGCACCTGGCCTTCTGTAAGCACTCTGGAATCTGTGGGCGCTGCCTCTGTAAGCCGCAAACGTCTGAAATCTCAGGGTGTGGAGGGCACCACACTGCCTGTCGCAGGATGAGATTGCTTCCCTTGGTTCCAGCTCGGCCTGGGATGGGAAAGCAGCTTTTTGTTTTCTTATTCCATCTGCGTTTTGCTTAGGGGAAGGAGGGTGTGTGCATGTGTGTACATACGTGTGCGTGTGTCAGAAAAGATGGGGCAGTGTGTCCATGCATCCTCCTACTTAATCTGAGCATATGGTACCCCAAAAGCACACACCCACTGCTCTGGTGGTACCTTGGAAAACCCAAAACTGCCAAATCTGAAATGAGGGAAACACATCCTGTGTGAGACCAGTTCCACAGCATGAACACACACACATATACACCAGTACATACACCGACATACACACAGTACAAATGAGCACACCCGCCCTGCTGTGCACAGCTGTTTTCTAATATAGAGAATTTACAAAATATAGAATTTGGCATATCTATCTGTGAGATCTCCAAGGCTTTCAATAATACAAAATAAAAAATACAAAAAAGACAAGTGGGGATCCCCGCCCTCCCCCCGAGTGGCGTCCTCGTTTGCTTGTGTGTCTCTTACACGCATACAACTAGCATAGTCTAAAGAAGGGCACGGAGAACTTGTTTTGTTTTATTTAATAAATATTTTTCTCAGAATCACCACTCCTTGCTTGGCGTCCTCTTGCCTCCCCCTCGTAATTAGTTCTGTTTCCCTCCTAGGGCACTGTCTGTGTGCGTGGAGGTGTGGGCAGAGGACCACGATGAAGGCCACAGTCCCTCCAAAGCCAGCACTCCTGTGCCAAAGCCCCTGCAGGTGCAGGGTGGTGGCCTGTCTGAAGTTTAAAGGCTCACATAGAAAAGCAGACCCCTGGGGCCCCCTAGGCTCTCCCAGGCCACATTCGAGCCCGTCTACCCCCAGCTGAGTCGGAGGCCCCTCAGCCCTGCCCTTGTCTGGGCCGTGCCACACACACATTCCCACGGCTCCTTTCCACCTGTGCAGCAGCACCTGTTAGAAAACTCAAGCTTCAGACCCAGTCTAGCAGAGTCTTCTACAGAGGGAAACATCTTTGGTCAGCTGGGTGCTCGCAGGACGCTGGCACCCCGGGGCCTGGGACAGAGGCCGCTGCCCACCAGCAAAGGCAGAAGCTGCTCTGGAGTCCAAGTGGAAAATCTCAGCAGCGCAGCCCTGCGGGCTGGAGCATGGCTTCCCCGCCACCCCCGGCACACAGAGAAGCTGCTTCCATGCCTCTGGAGGCCAGGCTGCCTGGCACCATTGGCCAACAGCTGCTAACTGAGCGGGGGCCCTCCATTGAGGAAGTAGGTCATCATCTCGCCTTTGCCCTTGACCTTGACCACGCCCCGGCACTCCAGCTGGTACGTGTTGGCAGCCAGCACCTGGTACATGTCTGTGGTGACCTGTGGGGGAACAGGAGGAGAGAGGGCAAGCCACTGATGGCCTTGGCCATGAACTGCTGTGGGGTAGAGCCACCTCTGACTGCCCAGCCCTGTTGCCGCCCCTGACACAGAAGGAGAGGGGCAGCTGCCCCACTGAGGTGCTCTCAGGGACTGACAGACAGCAGCTCACCATGGAAGGGATCCTAAGAAAAGAGCAACGCCAGCTCTCACCCTCAGCACCTGCTCGTGCCAGGCACTGTGACGGGCAGCTTGCGTGTGCTGTTTCAGTGTGGCCTGTGGTCCATGGACTGACTGCCCTGAGTCCAGAATAAGTTCAGGAGTGGACAGTAAGTGCCGGGGAGCTTTCAAAGCCATCTGACCTGGCTGCAGCCCGTCTCCAAGTGTGTCCCCGGTGCATTGTACAAAAGCATCCCTCCGTGACAGATCAGAACGATTTTTAAAAGCTGCTTTTTTCACCACAGGTCGTTTGAGAGCCTTTGCTTATCTCACTGCATCTTCCTGTGAGGTGACTAATGTTATTACCCTCAGGCTCAGAGCATCTAAGTCACGAGCCTGAGGTTACACAGTGAATAAATGGCAGGGCCTGTGCTTAGGTCCAGGTCTTGTTGTCTGGCTCTGCTTTAGCTTTCGGAACAAAGAAGAGAGCTCACCGATGGCCTCACTAATTTCACTATCCCATTGCTGGGTGAAAGAGAAGAGTGGTGGGGACAGATGTGGGGAGGGGCAGCATAGCCAGTGGCTCCTGGGATGACCCAAGAGCTGTTTGTGAGCATCGTCAGAGCTCCCCACCCCAGCCACACTGCAAGCCCACCAGTGAGTGCAAGTGCCAGGCAGCAGGCGGTAGGAGTGCTGGGTGGGCTGCTGAGAGGGGACCCCACTGTGTTACTAGCTGCAGTTCCTGTGTGGTGCAGCCCCACACAAGGTGAGTTGCTGGGTCATTATGGTGGCTGCTCAGAGAGTCCCTTGCGCCTGTCCCTGAATGGGCTGGAAGCCTTGGAAACACACATGCCCCTTGCTCCTATCTCTAGGCCCATCCTGCTGTCCTTCTCTCCTTTGCACAGGGATGGAGGTGAGAAAAGGCCATTAAGGCCAGGCCCCTCGGCCAGCATCCACACCTCAGCCAGGTCAGGCTGAGTGGACCAGGACTGTGCTTGGGGTCAGGCCCTTTATTCAGAGGCCCTGTGGGGGAGAGAAGTCAGGACATTTAAGCAGTATCATCAGTGTTGGCAAAAGGCCTTAAAAGCAGCACAGTTAGCACCTGGAAAAACAGGCCAGGCAAGCTGACCTCCCACAGCCTCACAGAGAACTGGGGGTGAGGGCCGTGCAGGAGGACTACTGCCCAGGGCGGTGCCTCTGCCATCAGACTGCAGCAGAGAATCAAGGAAGGCTCAAAAAGCAGCAGCTGAAGAACAGCAGGCCGGGAAACCACAAGCCCAGCTCGCAAAGGAGGGAGCAAGGGGAAAAGGCCTCTGAGTCTGTGGCCAGGGCCCTTGGCTGCTGGGGCTGGGGGAGGTACCATCCCAGGGCCAGCAGCCCCCACTGGCTCTCCTGAGCCAGGCCAGGAGTGCTGCAGGCTCAATGGGTAAGACCTGCTCCCTGCAGACATCTTTGCATCCTCTCTGTGTGCCTGGGCTAGGAGGCACTGGGGCCTGCATGTGCACTCTCAGCTCGGCCTCTACAATCAGATCCACTCCCAGCAGCCCCCAGTCCCTTCCATGCCCAGTAGAGGGCTCTGCAGAAGCCTGAAGATCTGTCCAAGGTGCTGAGGGCCTGAAACACAATTGTGTTCTCCAAGCTTCCAAGACATCAGCGTCAACAGCCCCATCACCCTTGAATCTGGCTGCAGACATTCTGACTGGGAACTGTAGGTGGCCTGCCCTGAAGACCTCTCGGTGTCAGACACAGGACCTCCCATGGGGTGAGGGGTGGTGGATGCTCCTGCACTCACCTGGATGCGGTCGGGTACACCGGTGCTGTCCATGCGGCTGGCCAC
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GCCTCCTGTGGCCGACGTCAGGATGGCAATGCAGAACTCAAAGGATGGAGCAGCAGAAGCACGGGACAGACTCAGGCTTGGCAGTTTTGGGTCCACACACTTTGCTTCTCAGAGCTGTGTTCAGTTGGTGTGCGGGGAGGGGAGGGTGGTGCTAGAGCCCAGTGAGAGGTGGTACAGGTGGACATCAAAGTCACATTGTGGCAGCTGGCACAGAGCCACTGCCTCATCACCTCCAAGCTCATGTTGGAGGTGAAGATCATTCTAACCTGAGAAGCAATGGAAAGATTTGGGCATGGGCCCTAAGGATTCCACTGAATTCTGTGCTAGAGTATCATTTTCCAAATGTCTTCCTCATAGGTTATAAAAATAGTATTTTTTTCTTGGTATGTTTAACTGCCCCCTCCCACTAAAACAAAATTCCTGCTAGCTTTCCCTGTGGACTCTAAAGCTGGGCTCTACCCATTCCTCTGCCTGGTTTGCCGGTGGAGGTCAAGGCCACTCCCTTTCCGCAAACCTGAAGGCTGCACATTGCATCCCCCAGTCTGAGTGAACATCTCCAGGAAGAGCCACCTGCACCTTGGCCAACTGAGTAGGCCAGGGAGGCTTGGCTTCCTCGTCCCAGCCTGCAAAGCACCTGGCCTTCTGTAAGCACTCTGGAATCTGTGGGCGCTGCCTCTGTAAGCCGCAAACGTCTGAAATCTCAGGGTGTGGAGGGCACCACACTGCCTGTCGCAGGATGAGATTGCTTCCCTTGGTTCCAGCTCGGCCTGGGATGGGAAAGCAGCTTTTTGTTTTCTTATTCCATCTGCGTTTTGCTTAGGGGAAGGAGGGTGTGTGCATGTGTGTACATACGTGTGCGTGTGTCAGAAAAGATGGGGCAGTGTGTCCATGCATCCTCCTACTTAATCTGAGCATATGGTACCCCAAAAGCACACACCCACTGCTCTGGTGGTACCTTGGAAAACCCAAAACTGCCAAATCTGAAATGAGGGAAACACATCCTGTGTGAGACCAGTTCCACAGCATGAACACACACACATATACACCAGTACATACACCGACATACACACAGTACAAATGAGCACACCCGCCCTGCTGTGCACAGCTGTTTTCTAATATAGAGAATTTACAAAATATAGAATTTGGCATATCTATCTGTGAGATCTCCAAGGCTTTCAATAATACAAAATAAAAAATACAAAAAAGACAAGTGGGGATCCCCGCCCTCCCCCCGAGTGGCGTCCTCGTTTGCTTGTGTGTCTCTTACACGCATACAACTAGCATAGTCTAAAGAAGGGCACGGAGAACTTGTTTTGTTTTATTTAATAAATATTTTTCTCAGAATCACCACTCCTTGCTTGGCGTCCTCTTGCCTCCCCCTCGTAATTAGTTCTGTTTCCCTCCTAGGGCACTGTCTGTGTGCGTGGAGGTGTGGGCAGAGGACCACGATGAAGGCCACAGTCCCTCCAAAGCCAGCACTCCTGTGCCAAAGCCCCTGCAGGTGCAGGGTGGTGGCCTGTCTGAAGTTTAAAGGCTCACATAGAAAAGCAGACCCCTGGGGCCCCCTAGGCTCTCCCAGGCCACATTCGAGCCCGTCTACCCCCAGCTGAGTCGGAGGCCCCTCAGCCCTGCCCTTGTCTGGGCCGTGCCACACACACATTCCCACGGCTCCTTTCCACCTGTGCAGCAGCACCTGTTAGAAAACTCAAGCTTCAGACCCAGTCTAGCAGAGTCTTCTACAGAGGGAAACATCTTTGGTCAGCTGGGTGCTCGCAGGACGCTGGCACCCCGGGGCCTGGGACAGAGGCCGCTGCCCACCAGCAAAGGCAGAAGCTGCTCTGGAGTCCAAGTGGAAAATCTCAGCAGCGCAGCCCTGCGGGCTGGAGCATGGCTTCCCCGCCACCCCCGGCACACAGAGAAGCTGCTTCCATGCCTCTGGAGGCCAGGCTGCCTGGCACCATTGGCCAACAGCTGCTAACTGAGCGGGGGCCCTCCATTGAGGAAGTAGGTCATCATCTCGCCTTTGCCCTTGACCTTGACCACGCCCCAGCACTCCAGCTGGTACGTGTTGGCAGCCAGCACCTGGTACATGTCTGTGGTGACCTGTGGGGGAACAGGAGGAGAGAGGGCAAGCCACTGATGGCCTTGGCCATGAACTGCTGTGGGGTAGAGCCACCTCTGACTGCCCAGCCCTGTTGCCGCCCCTGACACAGAAGGAGAGGGGCAGCTGCCCCACTGAGGTGCTCTCAGGGACTGACAGACAGCAGCTCACCATGGAAGGGATCCTAAGAAAAGAGCAACGCCAGCTCTCACCCTCAGCACCTGCTCGTGCCAGGCACTGTGACGGGCAGCTTGCGTGTGCTGTTTCAGTGTGGCCTGTGGTCCATGGACTGACTGCCCTGAGTCCAGAATAAGTTCAGGAGTGGACAGTAAGTGCCGGGGAGCTTTCAAAGCCATCTGACCTGGCTGCAGCCCGTCTCCAAGTGTGTCCCCGGTGCATTGTACAAAAGCATCCCTCCGTGACAGATCAGAACGATTTTTAAAAGCTGCTTTTTTCACCACAGGTCGTTTGAGAGCCTTTGCTTATCTCACTGCATCTTCCTGTGAGGTGACTAATGTTATTACCCTCAGGCTCAGAGCATCTAAGTCACGAGCCTGAGGTTACACAGTGAATAAATGGCAGGGCCTGTGCTTAGGTCCAGGTCTTGTTGTCTGGCTCTGCTTTAGCTTTCGGAACAAAGAAGAGAGCTCACCGATGGCCTCACTAATTTCACTATCCCATTGCTGGGTGAAAGAGAAGAGTGGTGGGGACAGATGTGGGGAGGGGCAGCATAGCCAGTGGCTCCTGGGATGACCCAAGAGCTGTTTGTGAGCATCGTCAGAGCTCCCCACCCCAGCCACACTGCAAGCCCACCAGTGAGTGCAAGTGCCAGGCAGCAGGCGGTAGGAGTGCTGGGTGGGCTGCTGAGAGGGGACCCCACTGTGTTACTAGCTGCAGTTCCTGTGTGGTGCAGCCCCACACAAGGTGAGTTGCTGGGTCATTATGGTGGCTGCTCAGAGAGTCCCTTGCGCCTGTCCCTGAATGGGCTGGAAGCCTTGGAAACACACATGCCCCTTGCTCCTATCTCTAGGCCCATCCTGCTGTCCTTCTCTCCTTTGCACAGGGATGGAGGTGAGAAAAGGCCATTAAGGCCAGGCCCCTCGGCCAGCATCCACACCTCAGCCAGGTCAGGCTGAGTGGACCAGGACTGTGCTTGGGGTCAGGCCCTTTATTCAGAGGCCCTGTGGGGGAGAGAAGTCAGGACATTTAAGCAGTATCATCAGTGTTGGCAAAAGGCCTTAAAAGCAGCACAGTTAGCACCTGGAAAAACAGGCCAGGCAAGCTGACCTCCCACAGCCTCACAGAGAACTGGGGGTGAGGGCCGTGCAGGAGGACTACTGCCCAGGGCGGTGCCTCTGCCATCAGACTGCAGCAGAGAATCAAGGAAGGCTCAAAAAGCAGCAGCTGAAGAACAGCAGGCCGGGAAACCACAAGCCCAGCTCGCAAAGGAGGGAGCAAGGGGAAAAGGCCTCTGAGTCTGTGGCCAGGGCCCTTGGCTGCTGGGGCTGGGGGAGGTACCATCCCAGGGCCAGCAGCCCCCACTGGCTCTCCTGAGCCAGGCCAGGAGTGCTGCAGGCTCAATGGGTAAGACCTGCTCCCTGCAGACATCTTTGCATCCTCTCTGTGTGCCTGGGCTAGGAGGCACTGGGGCCTGCATGTGCACTCTCAGCTCGGCCTCTACAATCAGATCCACTCCCAGCAGCCCCCAGTCCCTTCCATGCCCAGTAGAGGGCTCTGCAGAAGCCTGAAGATCTGTCCAAGGTGCTGAGGGCCTGAAACACAATTGTGTTCTCCAAGCTTCCAAGACATCAGCGTCAACAGCCCCATCACCCTTGAATCTGGCTGCAGACATTCTGACTGGGAACTGTAGGTGGCCTGCCCTGAAGACCTCTCGGTGTCAGACACAGGACCTCCCATGGGGTGAGGGGTGGTGGATGCTCCTGCACTCACCTGGATGCGGTCGGGTACACCGGTGCTGTCCATGCGGCTGGCCAC
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Task1_train_7455
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This mutation occurs in ADCY5 (adenylate cyclase 5) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant
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CTTTTAAATAAAACAACGCGGTTAGGTCAGTATTACTCGAAACAAATGGGACTGCCATCTGCTGTGCTACAACCACCAGAAGGCCCCATGCCCTCGGCACAGAGCATCCCCCACAAAGCCCTTCGAGCAGGCACAGCCTGGGTCCCACCAGGCCGGCCCTGCATCTGAGTGAGGTGGGAACTCACCAAGGGGTGTCCTACCCATGTGGCCCTCATGTCAAAAGGCAGCAGAGGCATCGCCAGGCTCTGGGCGGATTCCGCTGTGAATGACCCATGCCTGCCCCCACCTACTAAGGGCAGGGAACACACCACATCAGCCTCTGCTGCCGCCTGGCCTTCTACCTTGGGACCACAATGGCGGATGCGGTATGGGGTATGGGGGAGCCCCTGCCAGCCCTCTGCCTGACTGCACCCTGGGCTCAGCACTCCCTGGGCCCCCACTCACCGATCTTCATCTGGAAGTTGTTGAAGGAGTGCTCATTGATGTACTTCATCTGGTCCATCAGCTTCATGGCAAAGTCGGCCAGTGCCTTGATGTGGGTCTTGCCCACCTTGTCGTAGGTAGAGTCGTTGAGGCCGGAGGCAGCCATGTAGGTGCTGCCGATGGTCTTGATCTTCTCCAGCTGCCGGAACCGATCCTCGCTGATGATCTGGATGAAGGAGGCCAAACCTGGGTCACCCCAAGCCTGGGACACCGAGGGCCACAGGGAGGGACAGAGGATGTCCAGGGAAGTGCAGCAGCATGGCCCTTCATGTGTCCGCTCTTCACACAGTGGGGCCTGTCTCCATCCTCATCAGTGTGATGCCCGCAACGCTCCTGACACAGCCAGGCCCCTCCACACTCACTCACCCACTGGACAGTGCCTGTGGGCTACCTGCCCACCCTCACGCCAGGAGCCCTGAAGACAAGGTCACTAGTCACCTCTGGGTCTCTTGTCTCCCCTTCAACAAGCTCACACCTCCATCCCACCCAGGGAAACCTCCATTTGTCCAGCAGGCAAATTCTTTCCCTACCCCCTGGCCCCGGCCCTCCTGGAAGCCTTCCCACACTCAACTCAGCCAACTCCCATCACTCCACTGCCCCGGGAGTCTTGCAGGCCGTTCCTGACACTGCCTGGCCAAGCTCCATCATCCTGCTTCTCCCTGTGCCCCATGCCCAGGCCCGGCGTGCCCGCTGGGGTGGCCCCTCTCACGCCCATGACTCAGGAGCTCCCAGGGTCAAGACTGCCCTACCGGGCTCTGCATCCCCAGTGCCTCCACACGCCAGGTGCTCAACCAGAGTATGAGAAGGAAATGAAGGAATGCTTCAATTTGGCCTCTGCTACTCAGGGCCTCACATCTTTCTCCTGCCTCCTCCCTTAGCCTGAGGACTCCTCCTTCCTTTGGTTCTCTCAAAGCCCTGGGCACAGACACTGGGTTGTCCCAGGCCCTGGGACCCCATGCACCCTAGATGGCACAAGAGGAATGGTGGTCAGCGAGCCAGTCAGAGAGCTGCCAAAGGCTAAGTTCAAACAGTGTGGGCTGAAACCCCAGCTCTGCCACTTATTGGCAGTGACCTCAGGCCAGACACTTGAGTTCTGTGGGCCTCAGTTTCCTCATCTGTCACATGATGATGAGAGAGGCCATGTGTGCAAGGTGCCCATTGCAGCACCTGGGGACACGGTCAGGTTCCCGCCGGCAGAGCTCCCATCATCACTGCTTATGTCACGATGGTAGAAGGGGGCGCCAGGTCTCTTCACATCCCTCCCATACCAGGGACTTGTAGGCCCCTCCCAGGAACACAGCCTGACCCAGGCCCCGCTGTGCACCTCATCAAAGTCAGCGATGATCTCATTGAGTAGCCGCAGGCACTCGACACCCTCGTTGTTGGCCTCCAGCTCAACGTAGAACTCGGAGAAGTTGGCGATGGAGGCGAACATGACCGCCACACACTCACAGGACTGATAGTAGAGCTCATCATTGCGCCGCTCGCGGGCCAGGAAGTGAGCGGCCACGTCCTTGGGCAGGATGTTGTGCAGCAGCCGCCGGTTGTAGGCCTGCAGCTCCTCCATCTCCTCTTTCTCCTCTGTGGCCTGAGAGAAAAAGACTGCAAGTCACCCAGATGCCAATGTGAGCCCAGATGTCGGCCCCTCCACCTCCTCCTCTCCGTGGCCTGGAGAAAAAGCACCAGTCACGCAAATGCCAACTTGTGCCCAGGATGTTGGCAAGTACCGCTGTCTCTCCTCCTCTCTCTGCTGTTTCTACTTCCAGGTTTTCTCCAAAGAGCAGGACTTTGACAATCAGAAAAGACATTTCTGAGCCTCGAACTCTCTCTGCCAGCCTCTCTGGGGGTGCTGAGCCTGCAGCAGGGAGCCCCGAGCAGGAACAAGCCTGGAGGTGAGGCTGCAAGGATCCTGTCTGCCAAAGGCCAGAACCAGGCTGGAAGGGAAAAGGATCCAAAACACAGCCCACACAGCCCTCCAGCTCCCCGGTGCTCCTCCACTGTTCATTGTCCTCTTAATATCAGGAAATGGAATCAAAAGCCAGAGTTACCTTAATTGACGGACCTGTGGGGGAAAACAGCCCAAAGCCCTGCCCAGTCTGTCTCCCAGGAGGGCAGACTTGCCCCAGAGCCAGATGCAGCCAGGAGGAGCAAGTGCCAGGAGGGACCCCCTGGGATGAGGATGGGACATCACCAGTGACTTTGGTTTTCCCCCAGTTTGGGTCCTGGGTCTATGGGATTTTTTGGTCACCCACCTTCCAGGTTAAAGGACAGGGCAGATCCCTCGGGTCAAGAGGCCAGTAGTGCCCTACAAGGGGCTGAAGGGAAGAGGTGTCACACACCGAGGTGTGGCAAGGAACCATCTGACAAGAGTGTTCATGAGAAAAATCTGGCTGGCCCACTTGGGCTTTTCCTAACTAAATGAAGACACTTTTCTGCTCAGCTGCAAGTAGAATCTCCAACAGGACCAGGACTGACTCTCAGGGCCCTGGCTGTCCCTGTGGTGGTGGATGTCCATGGGGAAAGAGCTGGTGCTCCTTTCCAAGGCTTCAGGACCTGGGTCCAGCACGGAGGAAGAGCTCCCAGGGCAGAAGATCCAGGACCCCTAGGCTCAATGGCCAGCCCTGCCCCTAAGGTAAGTGGGCTCCTGACTGTGCTGCCCATGGCCTGGTGGCCTCCTGGAGTCCCTGGGAATGTGGCTGTGAGGACTGGGATCATCCCGAGGGCTTCTGGACGCTAAAGGGCCCCGCCTTCCACCACCACCCACAGAGGCACGGGGAGCCAGCTGGTCTGTGCTGTCTTCTTGCCAAGCCTTCCTGCCCAGGTGACCTAAGCTCCTGGGAGGCAGTACCCTTTACCCATGTCCCTCGCCATGAATAAGGCTACCTGTGTCTGGCTCTGGAACAGCTATGCCCACGGGAGAAGGCTGGGGGTGGGGGGTAGGGGGCATCCCTGTGCTTCTTCTCACAGGCTGTCCCATGGAGGAGCCCTGCAGTCAGTTATTTGCCTCTGAAAATGCACCAGACTAGACAGTCCTGCTCCTACCTCTGCTGAGACACATGCCTGGGGGCCCACGGATGCCAGAAGCACTACAGCTCCTTTGATGCACCCTGCAGGTGGCAGACAGCATCAGCCCAAAGTGTCAGACAGAGTGGAGGTGGAAGCTAGGGGCAGGGCCGCTAGAGCAGGCTACAGCTGGGGGCAGAGCCAATCCCCAGGGCCAGGCCAGCTGCTACAGCCACCTCTGCAAACTCCACCCCAGCACAGGTGGGCGCCTGACAATGCAGCCAACTACTTCTGGGGCTGCGCCCTGGCAGGGCAGGAAGGTTCGGGGGGCTACAGCCTCTTGGTGGCCCCACTAAGGTCAATGCTGGAGGAAGGGACAAGAGCAGGCTCTCCTGAGAACTCAGACCCTGCAGTTAGGCTAGGAGGGGGCCAGGCAGGCGCTAGGCGGGTCAGAGTGTGTTCCTTGTGCAGGTGCTTGAAGAATGCTGAGGAGTCCGCCTACCAGCCAACTGTACAGGGGCTGCTAAGCCAGCCTGGGGGCGGGGCAGAGACTATCACTTGCCCATCCCAAGGGCCTGCTTTCTGGTGTTTCTTTATTGGTATTTATGTG
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CTTTTAAATAAAACAACGCGGTTAGGTCAGTATTACTCGAAACAAATGGGACTGCCATCTGCTGTGCTACAACCACCAGAAGGCCCCATGCCCTCGGCACAGAGCATCCCCCACAAAGCCCTTCGAGCAGGCACAGCCTGGGTCCCACCAGGCCGGCCCTGCATCTGAGTGAGGTGGGAACTCACCAAGGGGTGTCCTACCCATGTGGCCCTCATGTCAAAAGGCAGCAGAGGCATCGCCAGGCTCTGGGCGGATTCCGCTGTGAATGACCCATGCCTGCCCCCACCTACTAAGGGCAGGGAACACACCACATCAGCCTCTGCTGCCGCCTGGCCTTCTACCTTGGGACCACAATGGCGGATGCGGTATGGGGTATGGGGGAGCCCCTGCCAGCCCTCTGCCTGACTGCACCCTGGGCTCAGCACTCCCTGGGCCCCCACTCACCGATCTTCATCTGGAAGTTGTTGAAGGAGTGCTCATTGATGTACTTCATCTGGTCCATCAGCTTCATGGCAAAGTCGGCCAGTGCCTTGATGTGGGTCTTGCCCACCTTGTCGTAGGTAGAGTCGTTGAGGCCGGAGGCAGCCATGTAGGTGCTGCCGATGGTCTTGATCTTCTCCAGCTGCCGGAACCGATCCTCGCTGATGATCTGGATGAAGGAGGCCAAACCTGGGTCACCCCAAGCCTGGGACACCGAGGGCCACAGGGAGGGACAGAGGATGTCCAGGGAAGTGCAGCAGCATGGCCCTTCATGTGTCCGCTCTTCACACAGTGGGGCCTGTCTCCATCCTCATCAGTGTGATGCCCGCAACGCTCCTGACACAGCCAGGCCCCTCCACACTCACTCACCCACTGGACAGTGCCTGTGGGCTACCTGCCCACCCTCACGCCAGGAGCCCTGAAGACAAGGTCACTAGTCACCTCTGGGTCTCTTGTCTCCCCTTCAACAAGCTCACACCTCCATCCCACCCAGGGAAACCTCCATTTGTCCAGCAGGCAAATTCTTTCCCTACCCCCTGGCCCCGGCCCTCCTGGAAGCCTTCCCACACTCAACTCAGCCAACTCCCATCACTCCACTGCCCCGGGAGTCTTGCAGGCCGTTCCTGACACTGCCTGGCCAAGCTCCATCATCCTGCTTCTCCCTGTGCCCCATGCCCAGGCCCGGCGTGCCCGCTGGGGTGGCCCCTCTCACGCCCATGACTCAGGAGCTCCCAGGGTCAAGACTGCCCTACCGGGCTCTGCATCCCCAGTGCCTCCACACGCCAGGTGCTCAACCAGAGTATGAGAAGGAAATGAAGGAATGCTTCAATTTGGCCTCTGCTACTCAGGGCCTCACATCTTTCTCCTGCCTCCTCCCTTAGCCTGAGGACTCCTCCTTCCTTTGGTTCTCTCAAAGCCCTGGGCACAGACACTGGGTTGTCCCAGGCCCTGGGACCCCATGCACCCTAGATGGCACAAGAGGAATGGTGGTCAGCGAGCCAGTCAGAGAGCTGCCAAAGGCTAAGTTCAAACAGTGTGGGCTGAAACCCCAGCTCTGCCACTTATTGGCAGTGACCTCAGGCCAGACACTTGAGTTCTGTGGGCCTCAGTTTCCTCATCTGTCACATGATGATGAGAGAGGCCATGTGTGCAAGGTGCCCATTGCAGCACCTGGGGACACGGTCAGGTTCCCGCCGGCAGAGCTCCCATCATCACTGCTTATGTCACGATGGTAGAAGGGGGCGCCAGGTCTCTTCACATCCCTCCCATACCAGGGACTTGTAGGCCCCTCCCAGGAACACAGCCTGACCCAGGCCCCGCTGTGCACCTCATCAAAGTCAGCGATGATCTCATTGAGTAGCCGCAGGCACTCGACACCCTCGTTGTTGGCCTCCAGCTCAACGTAGAACTCGGAGAAGTTGGCGATGGAGGCGAACATGACCGCCACACACTCACAGGACTGATAGTAGAGCTCATCATTGCGCCGCTCGCGGGCCAGGAAGTGAGCGGCCACGTCCTTGGGCAGGATGTTGTGCAGCAGCCGCCGGTTGTAGGCCTGCAGCTCCTCCTTCTCCTCTTTCTCCTCTGTGGCCTGAGAGAAAAAGACTGCAAGTCACCCAGATGCCAATGTGAGCCCAGATGTCGGCCCCTCCACCTCCTCCTCTCCGTGGCCTGGAGAAAAAGCACCAGTCACGCAAATGCCAACTTGTGCCCAGGATGTTGGCAAGTACCGCTGTCTCTCCTCCTCTCTCTGCTGTTTCTACTTCCAGGTTTTCTCCAAAGAGCAGGACTTTGACAATCAGAAAAGACATTTCTGAGCCTCGAACTCTCTCTGCCAGCCTCTCTGGGGGTGCTGAGCCTGCAGCAGGGAGCCCCGAGCAGGAACAAGCCTGGAGGTGAGGCTGCAAGGATCCTGTCTGCCAAAGGCCAGAACCAGGCTGGAAGGGAAAAGGATCCAAAACACAGCCCACACAGCCCTCCAGCTCCCCGGTGCTCCTCCACTGTTCATTGTCCTCTTAATATCAGGAAATGGAATCAAAAGCCAGAGTTACCTTAATTGACGGACCTGTGGGGGAAAACAGCCCAAAGCCCTGCCCAGTCTGTCTCCCAGGAGGGCAGACTTGCCCCAGAGCCAGATGCAGCCAGGAGGAGCAAGTGCCAGGAGGGACCCCCTGGGATGAGGATGGGACATCACCAGTGACTTTGGTTTTCCCCCAGTTTGGGTCCTGGGTCTATGGGATTTTTTGGTCACCCACCTTCCAGGTTAAAGGACAGGGCAGATCCCTCGGGTCAAGAGGCCAGTAGTGCCCTACAAGGGGCTGAAGGGAAGAGGTGTCACACACCGAGGTGTGGCAAGGAACCATCTGACAAGAGTGTTCATGAGAAAAATCTGGCTGGCCCACTTGGGCTTTTCCTAACTAAATGAAGACACTTTTCTGCTCAGCTGCAAGTAGAATCTCCAACAGGACCAGGACTGACTCTCAGGGCCCTGGCTGTCCCTGTGGTGGTGGATGTCCATGGGGAAAGAGCTGGTGCTCCTTTCCAAGGCTTCAGGACCTGGGTCCAGCACGGAGGAAGAGCTCCCAGGGCAGAAGATCCAGGACCCCTAGGCTCAATGGCCAGCCCTGCCCCTAAGGTAAGTGGGCTCCTGACTGTGCTGCCCATGGCCTGGTGGCCTCCTGGAGTCCCTGGGAATGTGGCTGTGAGGACTGGGATCATCCCGAGGGCTTCTGGACGCTAAAGGGCCCCGCCTTCCACCACCACCCACAGAGGCACGGGGAGCCAGCTGGTCTGTGCTGTCTTCTTGCCAAGCCTTCCTGCCCAGGTGACCTAAGCTCCTGGGAGGCAGTACCCTTTACCCATGTCCCTCGCCATGAATAAGGCTACCTGTGTCTGGCTCTGGAACAGCTATGCCCACGGGAGAAGGCTGGGGGTGGGGGGTAGGGGGCATCCCTGTGCTTCTTCTCACAGGCTGTCCCATGGAGGAGCCCTGCAGTCAGTTATTTGCCTCTGAAAATGCACCAGACTAGACAGTCCTGCTCCTACCTCTGCTGAGACACATGCCTGGGGGCCCACGGATGCCAGAAGCACTACAGCTCCTTTGATGCACCCTGCAGGTGGCAGACAGCATCAGCCCAAAGTGTCAGACAGAGTGGAGGTGGAAGCTAGGGGCAGGGCCGCTAGAGCAGGCTACAGCTGGGGGCAGAGCCAATCCCCAGGGCCAGGCCAGCTGCTACAGCCACCTCTGCAAACTCCACCCCAGCACAGGTGGGCGCCTGACAATGCAGCCAACTACTTCTGGGGCTGCGCCCTGGCAGGGCAGGAAGGTTCGGGGGGCTACAGCCTCTTGGTGGCCCCACTAAGGTCAATGCTGGAGGAAGGGACAAGAGCAGGCTCTCCTGAGAACTCAGACCCTGCAGTTAGGCTAGGAGGGGGCCAGGCAGGCGCTAGGCGGGTCAGAGTGTGTTCCTTGTGCAGGTGCTTGAAGAATGCTGAGGAGTCCGCCTACCAGCCAACTGTACAGGGGCTGCTAAGCCAGCCTGGGGGCGGGGCAGAGACTATCACTTGCCCATCCCAAGGGCCTGCTTTCTGGTGTTTCTTTATTGGTATTTATGTG
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Task1_train_7456
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Here is a genetic alteration in ADCY5 (adenylate cyclase 5) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant
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ACCTAGGACAATTTGAGCATTAAAATACATAGTGAGGGTTGCAGACGATAACCCACTGGATTACATGGGAATCTGCGAGTCCAGGCTGAGGTAGAGAAGTGAATAAATAAGCAAATCAATGGAGGAGGAGGGACAGCTCTTCTGTGCAGTAGAATGCCAACCAGCAAGTCCAGAAGGAATGGCGGACACTGGGCATTGCTATCGGGCATTTCCACAGCAGGCACTGAGACAAGCAGGAGCCACCAATGGATGCAAAGGCTGCTGGGCAGAGATTTGCTGAGGATCAGAAAATTAGTGGAATATCAGACTCTCTTTCCATAAAGTGCTAGTCAAATACAAAGGGGGAAAAGGGGACATGACAGTGGAGAAATCTGGCAGATGCTGGTTGAGCAGGCCATCAGGGCTGACATCACCGGTGGTGGGATGGGTCAACACGGTGGAGTCTCTCAGTGCGAGGCACCAAGGGGTGCCCGGCTCCATTTCTGTGTGCTTCCTCCAGGAAGGCTCAGCCTGAGTCTGGACATGGGTCTGAAGGTCCCAGAGTAACAAGTTCTTTAAGATTGGCAAGGACCATGAGATGAGGAGAGACTGAGGATCTACTGCAGACTGGAACAGCTCGATACAGAGGACCTGTGCACAGGATCCTGGACCAGCATCGGGACAGTCGGCAACACTGAGAGGGGCCTGCCGCACCCCTGCTGATCGCCGATGGGGAGGGTGCGCAGGGATGACGCAGGGAGTGACCTTGTTTTTGCAAGGTAGACATGGGAGTATTTAGGGGTGATGGGGCATCATGTCAGAAAATACATATGGCGGTGGGTGATAGAGCAAATGCAGAAAAATGAGAGCCTCCTGGAAATGTTCCCAAAGAAGAGGGGATTGAGGAAGAAGGCAGAGGCCTGACAAGGGGCAGGCTCACACAGGATCTTCCCCAGGGTGCCCCAGCCCAGGGCTTCACAAGGGGCATTCTGCACAGAACCCTTCTGGGATTCTCCCTGGTTTCCCCAAACTCAGGGGACCCCTCAACTGCAGACCTCCGTGCTCAATTCCAGCCAGAACCCATGCAAAATACTCAGCAGAAGGGACAACCATTTGCCCCCATCCTCACTCAGCATCCAACGAAAAGCAGGGCCTCCTGCTCCAGCCCAAAGACTTCCATCCTGATGCCTCTAAGAAGTCTGGGATGGAGGAGGTCAAAGTGAGCTGTGGGTGAGCTGAAGTGGTCTAGAGATAGGGGCCGGGCCAAGAGAGGCAGAGGCCGGGCCAGGCTAAGCTCTGCACAGGGCTGGGCTGGAATAAAAGGTGTGAGGCAGCCCACAGGAAGACAGGGCTTTCTCCTGCTGAGTGCTCTTGGGCACTCCCTCCTGGCCCTTCCGAGATGCTCCAGCAGGTAACCTGGCCCACAGGCACCCCTTCCTCCAGGGAGACACAAGGCACAGGGCAGGCAGCCTGGAGAGCCAAGTGCTGGCTGGAATGCATGCATCATGGTCAACAGTCTTTGCTCCTTCAGTCCATCCCCTCTGGAGAAGTCTTCAACCCAGCTCTGGCTAGGTCAAGCCCTGCTCAGAAACCTTTGGTGCCAGTTCCCTACCCTGGCCAGGTTCCTCCCCTACTCCTCCACTCACCTCTTGCCACTCTTCCTTCCCCCGTCCCAGATGCCTTGCTGCCCCCACCACAAAGGACCTGCCCGCACCTCCCCTCTGTCCCTGCCTGGCAACACACACAGTAAGTGCCCAGCCAGTATTTGCTGACTTCAAAGCATGCCTCCTGGACCCGTCAGAGTCCCAGCACTGTCAGCATGGGTTTGTCTGCACAGAGTAAGTCCCAGGGTTTTGCCTCTTGGCTCCAGAGTGCAGGGAGCAGACCCACGGGGACACAGGGCACCAAGTGGCTTCGATGGGGCCTGAGCAAGACAGCTTGACAGTGTAAGACGAAGGCCCGGCTTGGCCTGGCCCAGCAGACGAGCCTGTTGTCTCCGCCACCTGCTCCCAAATGCCTCCCTCCCCAGGTCCAGCCCCAGGGCCACCCACCTGCAGTTTCCAGAGGAAGTCGAGGCGGGCAGTGGACTCCACCTGCTGGGCGTGCAGGTACAGGGCCAGCACAAAGACTGAGATGATGATGGGCGTCACCACCTTCAATGCCACCTTGGTTGCATGCTCAGGGCTGTGGGGAGGTGGTGGACAGGCCTGAGACGGCCGTGGCTCCTCACAGCGGGCTCTGAGGACCCCACCCCCACCCACTGCTGGCCCTGTTTTCTTCCTCCCACTATACCTTCCCCTCTTCCTTATCCCCCTGCTCAAACTTTGCCGCACGCGTGCCTCCTCCAGAAAGCCTTCCTGGCTGGCAGCCCCATCTCAGACCCTGCTTGCACCTGCAGCTCAGGCAGCCATTACTCCTCTCCTGACGCCTTACAACCCCCCATCACTCGGGAGCTCCCCTCTGGTCAGATCAGGGGATGAACTTAGCTTTCTAAAAGGCAGCATGTACATCCAGATCCTTCTCTGGACAAGACAGGGGCAGTGGGTGCAGTAAAAGGGCACCACGCAGGCCATGCTGACCCTGTCTCTGGACAACCTTGGGCAAGTGTCTTAATCTCTCTGAACTTTAGTTTGCTTATCTGTACAACAGGATAACAATAGCCACATTTCAAGATGGTAGTAAGGATTAAAGAGATATTATAAACAAAATGCTTAGCACAGCATCTGACCAACAGTAGGTGCTGCAAACTAGTAGCATTATTGTCTAATTCTGTTTTTGTTACTAATAGATACTCTTAACAAAAGCAGCCATTCCAAATCCTACGTCTTGTGCCTGCCAAGAGCTCAACCCCTGGAAGGCTGCACAGAGGCTCCAGTGACCCCCCGCCCCTTGCCCAGGCAGCAGCCCTCAATGCAGGGACGGGTCCCACAAGCACTGCAGCCCTCGCCTTTGTTCCTTGACTCCAGAGGGAAAGTAGGTACCAGCTTCCATTCTCCTGTGTCTGAGGTTCTCACACAGGCTCCTGGGGAAGAGCTTGAGGTTAAATGCTTTAACATGAGGCCTATGGGATGATCTGAAGCCGGTGATCCCAACCACAGAGACTACAGATCACCTTGGCAGGGATCATGAAAGTGACCAGGGCCTCTGCCCCCCGAGGACGCCTTGCTACCCCAGGAGGAACCAGCCTCCCTGTCCTGTTGGCCTTCTCCTTCACTACCCACCTTGCCACCAAGGCCCCTCCCACCTGGGCACCAGCTGCCCTCCCTGTCTGCTCTGTGCTGAGGGCAGGGAGCGACCCTATCCGAGGAGCATCAACTCACCACTGGGAGGTCCCGTTGTTGAAGAAGTCTCTGTGAAGAGAGTTGGGGAAGACTGGTCAGGGCCACCCTTCTGCATAAGGCGGCCTCCACTCCTGCTCAGCCCCCACGCCCTGCTCTGCTGTCCCCACCACTGCTGCTCCTTGGCTCCCCAGCCCCATTCACCCTCCATATCCAACGACATTTTCAGGGTGGGAGGTGGCAGAAAGCCCAGCCCCAACTAGCATTGGATACTCATGACCACAAACCACCCAGCTCTTACCTGAAACCCTGCCTTCCCAGACCCCAGCATATCTACCTGGGTGGAGGCCTGCCCGCCTCTCCCCCTCCCAGGCCTTTGCTGCCATCCAGAGGGCGTGGAGGAGAGATCCCACAGCTGCGCTGCTTGGTGTGGCAGCCGCTGGCCACGTGCAGCTACTGAGCCTCAACATGGGGCTGGTGCAAGCTAAAATGTGCTGTATGTGTAAAACATACACCAGGTTTTGAATAATTAGTGTAAAAAAAGGTAAAATATTTCATTAAGAATTTTATATCGATTATATCTTAAAATGATATTTTGGCTATATAGTACTTGTTAAATAAAAGTCAAATTATACTTTTTGCCTTTTTAATATGGCTATAAGAAAATTTTAAATTACATAAGTGGCTTTTTATTTTTTTATTTTTTTGAGACAAAGTCTTGCTCTATCTTCCAGGCTGCAGTGCAGTGGTGCAATCTCGGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCTATTCTTGTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATG
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ACCTAGGACAATTTGAGCATTAAAATACATAGTGAGGGTTGCAGACGATAACCCACTGGATTACATGGGAATCTGCGAGTCCAGGCTGAGGTAGAGAAGTGAATAAATAAGCAAATCAATGGAGGAGGAGGGACAGCTCTTCTGTGCAGTAGAATGCCAACCAGCAAGTCCAGAAGGAATGGCGGACACTGGGCATTGCTATCGGGCATTTCCACAGCAGGCACTGAGACAAGCAGGAGCCACCAATGGATGCAAAGGCTGCTGGGCAGAGATTTGCTGAGGATCAGAAAATTAGTGGAATATCAGACTCTCTTTCCATAAAGTGCTAGTCAAATACAAAGGGGGAAAAGGGGACATGACAGTGGAGAAATCTGGCAGATGCTGGTTGAGCAGGCCATCAGGGCTGACATCACCGGTGGTGGGATGGGTCAACACGGTGGAGTCTCTCAGTGCGAGGCACCAAGGGGTGCCCGGCTCCATTTCTGTGTGCTTCCTCCAGGAAGGCTCAGCCTGAGTCTGGACATGGGTCTGAAGGTCCCAGAGTAACAAGTTCTTTAAGATTGGCAAGGACCATGAGATGAGGAGAGACTGAGGATCTACTGCAGACTGGAACAGCTCGATACAGAGGACCTGTGCACAGGATCCTGGACCAGCATCGGGACAGTCGGCAACACTGAGAGGGGCCTGCCGCACCCCTGCTGATCGCCGATGGGGAGGGTGCGCAGGGATGACGCAGGGAGTGACCTTGTTTTTGCAAGGTAGACATGGGAGTATTTAGGGGTGATGGGGCATCATGTCAGAAAATACATATGGCGGTGGGTGATAGAGCAAATGCAGAAAAATGAGAGCCTCCTGGAAATGTTCCCAAAGAAGAGGGGATTGAGGAAGAAGGCAGAGGCCTGACAAGGGGCAGGCTCACACAGGATCTTCCCCAGGGTGCCCCAGCCCAGGGCTTCACAAGGGGCATTCTGCACAGAACCCTTCTGGGATTCTCCCTGGTTTCCCCAAACTCAGGGGACCCCTCAACTGCAGACCTCCGTGCTCAATTCCAGCCAGAACCCATGCAAAATACTCAGCAGAAGGGACAACCATTTGCCCCCATCCTCACTCAGCATCCAACGAAAAGCAGGGCCTCCTGCTCCAGCCCAAAGACTTCCATCCTGATGCCTCTAAGAAGTCTGGGATGGAGGAGGTCAAAGTGAGCTGTGGGTGAGCTGAAGTGGTCTAGAGATAGGGGCCGGGCCAAGAGAGGCAGAGGCCGGGCCAGGCTAAGCTCTGCACAGGGCTGGGCTGGAATAAAAGGTGTGAGGCAGCCCACAGGAAGACAGGGCTTTCTCCTGCTGAGTGCTCTTGGGCACTCCCTCCTGGCCCTTCCGAGATGCTCCAGCAGGTAACCTGGCCCACAGGCACCCCTTCCTCCAGGGAGACACAAGGCACAGGGCAGGCAGCCTGGAGAGCCAAGTGCTGGCTGGAATGCATGCATCATGGTCAACAGTCTTTGCTCCTTCAGTCCATCCCCTCTGGAGAAGTCTTCAACCCAGCTCTGGCTAGGTCAAGCCCTGCTCAGAAACCTTTGGTGCCAGTTCCCTACCCTGGCCAGGTTCCTCCCCTACTCCTCCACTCACCTCTTGCCACTCTTCCTTCCCCCGTCCCAGATGCCTTGCTGCCCCCACCACAAAGGACCTGCCCGCACCTCCCCTCTGTCCCTGCCTGGCAACACACACAGTAAGTGCCCAGCCAGTATTTGCTGACTTCAAAGCATGCCTCCTGGACCCGTCAGAGTCCCAGCACTGTCAGCATGGGTTTGTCTGCACAGAGTAAGTCCCAGGGTTTTGCCTCTTGGCTCCAGAGTGCAGGGAGCAGACCCACGGGGACACAGGGCACCAAGTGGCTTCGATGGGGCCTGAGCAAGACAGCTTGACAGTGTAAGACGAAGGCCCGGCTTGGCCTGGCCCAGCAGACGAGCCTGTTGTCTCCGCCACCTGCTCCCAAATGCCTCCCTCCCCAGGTCCAGCCCCAGGGCCACCCACCTGCAGTTTCCAGAGGAATTCGAGGCGGGCAGTGGACTCCACCTGCTGGGCGTGCAGGTACAGGGCCAGCACAAAGACTGAGATGATGATGGGCGTCACCACCTTCAATGCCACCTTGGTTGCATGCTCAGGGCTGTGGGGAGGTGGTGGACAGGCCTGAGACGGCCGTGGCTCCTCACAGCGGGCTCTGAGGACCCCACCCCCACCCACTGCTGGCCCTGTTTTCTTCCTCCCACTATACCTTCCCCTCTTCCTTATCCCCCTGCTCAAACTTTGCCGCACGCGTGCCTCCTCCAGAAAGCCTTCCTGGCTGGCAGCCCCATCTCAGACCCTGCTTGCACCTGCAGCTCAGGCAGCCATTACTCCTCTCCTGACGCCTTACAACCCCCCATCACTCGGGAGCTCCCCTCTGGTCAGATCAGGGGATGAACTTAGCTTTCTAAAAGGCAGCATGTACATCCAGATCCTTCTCTGGACAAGACAGGGGCAGTGGGTGCAGTAAAAGGGCACCACGCAGGCCATGCTGACCCTGTCTCTGGACAACCTTGGGCAAGTGTCTTAATCTCTCTGAACTTTAGTTTGCTTATCTGTACAACAGGATAACAATAGCCACATTTCAAGATGGTAGTAAGGATTAAAGAGATATTATAAACAAAATGCTTAGCACAGCATCTGACCAACAGTAGGTGCTGCAAACTAGTAGCATTATTGTCTAATTCTGTTTTTGTTACTAATAGATACTCTTAACAAAAGCAGCCATTCCAAATCCTACGTCTTGTGCCTGCCAAGAGCTCAACCCCTGGAAGGCTGCACAGAGGCTCCAGTGACCCCCCGCCCCTTGCCCAGGCAGCAGCCCTCAATGCAGGGACGGGTCCCACAAGCACTGCAGCCCTCGCCTTTGTTCCTTGACTCCAGAGGGAAAGTAGGTACCAGCTTCCATTCTCCTGTGTCTGAGGTTCTCACACAGGCTCCTGGGGAAGAGCTTGAGGTTAAATGCTTTAACATGAGGCCTATGGGATGATCTGAAGCCGGTGATCCCAACCACAGAGACTACAGATCACCTTGGCAGGGATCATGAAAGTGACCAGGGCCTCTGCCCCCCGAGGACGCCTTGCTACCCCAGGAGGAACCAGCCTCCCTGTCCTGTTGGCCTTCTCCTTCACTACCCACCTTGCCACCAAGGCCCCTCCCACCTGGGCACCAGCTGCCCTCCCTGTCTGCTCTGTGCTGAGGGCAGGGAGCGACCCTATCCGAGGAGCATCAACTCACCACTGGGAGGTCCCGTTGTTGAAGAAGTCTCTGTGAAGAGAGTTGGGGAAGACTGGTCAGGGCCACCCTTCTGCATAAGGCGGCCTCCACTCCTGCTCAGCCCCCACGCCCTGCTCTGCTGTCCCCACCACTGCTGCTCCTTGGCTCCCCAGCCCCATTCACCCTCCATATCCAACGACATTTTCAGGGTGGGAGGTGGCAGAAAGCCCAGCCCCAACTAGCATTGGATACTCATGACCACAAACCACCCAGCTCTTACCTGAAACCCTGCCTTCCCAGACCCCAGCATATCTACCTGGGTGGAGGCCTGCCCGCCTCTCCCCCTCCCAGGCCTTTGCTGCCATCCAGAGGGCGTGGAGGAGAGATCCCACAGCTGCGCTGCTTGGTGTGGCAGCCGCTGGCCACGTGCAGCTACTGAGCCTCAACATGGGGCTGGTGCAAGCTAAAATGTGCTGTATGTGTAAAACATACACCAGGTTTTGAATAATTAGTGTAAAAAAAGGTAAAATATTTCATTAAGAATTTTATATCGATTATATCTTAAAATGATATTTTGGCTATATAGTACTTGTTAAATAAAAGTCAAATTATACTTTTTGCCTTTTTAATATGGCTATAAGAAAATTTTAAATTACATAAGTGGCTTTTTATTTTTTTATTTTTTTGAGACAAAGTCTTGCTCTATCTTCCAGGCTGCAGTGCAGTGGTGCAATCTCGGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCTATTCTTGTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATG
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Task1_train_7457
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Here is a genetic alteration in ADCY5 (adenylate cyclase 5) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; not provided
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ATCAATGGAGGAGGAGGGACAGCTCTTCTGTGCAGTAGAATGCCAACCAGCAAGTCCAGAAGGAATGGCGGACACTGGGCATTGCTATCGGGCATTTCCACAGCAGGCACTGAGACAAGCAGGAGCCACCAATGGATGCAAAGGCTGCTGGGCAGAGATTTGCTGAGGATCAGAAAATTAGTGGAATATCAGACTCTCTTTCCATAAAGTGCTAGTCAAATACAAAGGGGGAAAAGGGGACATGACAGTGGAGAAATCTGGCAGATGCTGGTTGAGCAGGCCATCAGGGCTGACATCACCGGTGGTGGGATGGGTCAACACGGTGGAGTCTCTCAGTGCGAGGCACCAAGGGGTGCCCGGCTCCATTTCTGTGTGCTTCCTCCAGGAAGGCTCAGCCTGAGTCTGGACATGGGTCTGAAGGTCCCAGAGTAACAAGTTCTTTAAGATTGGCAAGGACCATGAGATGAGGAGAGACTGAGGATCTACTGCAGACTGGAACAGCTCGATACAGAGGACCTGTGCACAGGATCCTGGACCAGCATCGGGACAGTCGGCAACACTGAGAGGGGCCTGCCGCACCCCTGCTGATCGCCGATGGGGAGGGTGCGCAGGGATGACGCAGGGAGTGACCTTGTTTTTGCAAGGTAGACATGGGAGTATTTAGGGGTGATGGGGCATCATGTCAGAAAATACATATGGCGGTGGGTGATAGAGCAAATGCAGAAAAATGAGAGCCTCCTGGAAATGTTCCCAAAGAAGAGGGGATTGAGGAAGAAGGCAGAGGCCTGACAAGGGGCAGGCTCACACAGGATCTTCCCCAGGGTGCCCCAGCCCAGGGCTTCACAAGGGGCATTCTGCACAGAACCCTTCTGGGATTCTCCCTGGTTTCCCCAAACTCAGGGGACCCCTCAACTGCAGACCTCCGTGCTCAATTCCAGCCAGAACCCATGCAAAATACTCAGCAGAAGGGACAACCATTTGCCCCCATCCTCACTCAGCATCCAACGAAAAGCAGGGCCTCCTGCTCCAGCCCAAAGACTTCCATCCTGATGCCTCTAAGAAGTCTGGGATGGAGGAGGTCAAAGTGAGCTGTGGGTGAGCTGAAGTGGTCTAGAGATAGGGGCCGGGCCAAGAGAGGCAGAGGCCGGGCCAGGCTAAGCTCTGCACAGGGCTGGGCTGGAATAAAAGGTGTGAGGCAGCCCACAGGAAGACAGGGCTTTCTCCTGCTGAGTGCTCTTGGGCACTCCCTCCTGGCCCTTCCGAGATGCTCCAGCAGGTAACCTGGCCCACAGGCACCCCTTCCTCCAGGGAGACACAAGGCACAGGGCAGGCAGCCTGGAGAGCCAAGTGCTGGCTGGAATGCATGCATCATGGTCAACAGTCTTTGCTCCTTCAGTCCATCCCCTCTGGAGAAGTCTTCAACCCAGCTCTGGCTAGGTCAAGCCCTGCTCAGAAACCTTTGGTGCCAGTTCCCTACCCTGGCCAGGTTCCTCCCCTACTCCTCCACTCACCTCTTGCCACTCTTCCTTCCCCCGTCCCAGATGCCTTGCTGCCCCCACCACAAAGGACCTGCCCGCACCTCCCCTCTGTCCCTGCCTGGCAACACACACAGTAAGTGCCCAGCCAGTATTTGCTGACTTCAAAGCATGCCTCCTGGACCCGTCAGAGTCCCAGCACTGTCAGCATGGGTTTGTCTGCACAGAGTAAGTCCCAGGGTTTTGCCTCTTGGCTCCAGAGTGCAGGGAGCAGACCCACGGGGACACAGGGCACCAAGTGGCTTCGATGGGGCCTGAGCAAGACAGCTTGACAGTGTAAGACGAAGGCCCGGCTTGGCCTGGCCCAGCAGACGAGCCTGTTGTCTCCGCCACCTGCTCCCAAATGCCTCCCTCCCCAGGTCCAGCCCCAGGGCCACCCACCTGCAGTTTCCAGAGGAAGTCGAGGCGGGCAGTGGACTCCACCTGCTGGGCGTGCAGGTACAGGGCCAGCACAAAGACTGAGATGATGATGGGCGTCACCACCTTCAATGCCACCTTGGTTGCATGCTCAGGGCTGTGGGGAGGTGGTGGACAGGCCTGAGACGGCCGTGGCTCCTCACAGCGGGCTCTGAGGACCCCACCCCCACCCACTGCTGGCCCTGTTTTCTTCCTCCCACTATACCTTCCCCTCTTCCTTATCCCCCTGCTCAAACTTTGCCGCACGCGTGCCTCCTCCAGAAAGCCTTCCTGGCTGGCAGCCCCATCTCAGACCCTGCTTGCACCTGCAGCTCAGGCAGCCATTACTCCTCTCCTGACGCCTTACAACCCCCCATCACTCGGGAGCTCCCCTCTGGTCAGATCAGGGGATGAACTTAGCTTTCTAAAAGGCAGCATGTACATCCAGATCCTTCTCTGGACAAGACAGGGGCAGTGGGTGCAGTAAAAGGGCACCACGCAGGCCATGCTGACCCTGTCTCTGGACAACCTTGGGCAAGTGTCTTAATCTCTCTGAACTTTAGTTTGCTTATCTGTACAACAGGATAACAATAGCCACATTTCAAGATGGTAGTAAGGATTAAAGAGATATTATAAACAAAATGCTTAGCACAGCATCTGACCAACAGTAGGTGCTGCAAACTAGTAGCATTATTGTCTAATTCTGTTTTTGTTACTAATAGATACTCTTAACAAAAGCAGCCATTCCAAATCCTACGTCTTGTGCCTGCCAAGAGCTCAACCCCTGGAAGGCTGCACAGAGGCTCCAGTGACCCCCCGCCCCTTGCCCAGGCAGCAGCCCTCAATGCAGGGACGGGTCCCACAAGCACTGCAGCCCTCGCCTTTGTTCCTTGACTCCAGAGGGAAAGTAGGTACCAGCTTCCATTCTCCTGTGTCTGAGGTTCTCACACAGGCTCCTGGGGAAGAGCTTGAGGTTAAATGCTTTAACATGAGGCCTATGGGATGATCTGAAGCCGGTGATCCCAACCACAGAGACTACAGATCACCTTGGCAGGGATCATGAAAGTGACCAGGGCCTCTGCCCCCCGAGGACGCCTTGCTACCCCAGGAGGAACCAGCCTCCCTGTCCTGTTGGCCTTCTCCTTCACTACCCACCTTGCCACCAAGGCCCCTCCCACCTGGGCACCAGCTGCCCTCCCTGTCTGCTCTGTGCTGAGGGCAGGGAGCGACCCTATCCGAGGAGCATCAACTCACCACTGGGAGGTCCCGTTGTTGAAGAAGTCTCTGTGAAGAGAGTTGGGGAAGACTGGTCAGGGCCACCCTTCTGCATAAGGCGGCCTCCACTCCTGCTCAGCCCCCACGCCCTGCTCTGCTGTCCCCACCACTGCTGCTCCTTGGCTCCCCAGCCCCATTCACCCTCCATATCCAACGACATTTTCAGGGTGGGAGGTGGCAGAAAGCCCAGCCCCAACTAGCATTGGATACTCATGACCACAAACCACCCAGCTCTTACCTGAAACCCTGCCTTCCCAGACCCCAGCATATCTACCTGGGTGGAGGCCTGCCCGCCTCTCCCCCTCCCAGGCCTTTGCTGCCATCCAGAGGGCGTGGAGGAGAGATCCCACAGCTGCGCTGCTTGGTGTGGCAGCCGCTGGCCACGTGCAGCTACTGAGCCTCAACATGGGGCTGGTGCAAGCTAAAATGTGCTGTATGTGTAAAACATACACCAGGTTTTGAATAATTAGTGTAAAAAAAGGTAAAATATTTCATTAAGAATTTTATATCGATTATATCTTAAAATGATATTTTGGCTATATAGTACTTGTTAAATAAAAGTCAAATTATACTTTTTGCCTTTTTAATATGGCTATAAGAAAATTTTAAATTACATAAGTGGCTTTTTATTTTTTTATTTTTTTGAGACAAAGTCTTGCTCTATCTTCCAGGCTGCAGTGCAGTGGTGCAATCTCGGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCTATTCTTGTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGACGTGGGATTTTGTAGGCCAGGCTGGACTCAAGTGATCCAACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTG
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ATCAATGGAGGAGGAGGGACAGCTCTTCTGTGCAGTAGAATGCCAACCAGCAAGTCCAGAAGGAATGGCGGACACTGGGCATTGCTATCGGGCATTTCCACAGCAGGCACTGAGACAAGCAGGAGCCACCAATGGATGCAAAGGCTGCTGGGCAGAGATTTGCTGAGGATCAGAAAATTAGTGGAATATCAGACTCTCTTTCCATAAAGTGCTAGTCAAATACAAAGGGGGAAAAGGGGACATGACAGTGGAGAAATCTGGCAGATGCTGGTTGAGCAGGCCATCAGGGCTGACATCACCGGTGGTGGGATGGGTCAACACGGTGGAGTCTCTCAGTGCGAGGCACCAAGGGGTGCCCGGCTCCATTTCTGTGTGCTTCCTCCAGGAAGGCTCAGCCTGAGTCTGGACATGGGTCTGAAGGTCCCAGAGTAACAAGTTCTTTAAGATTGGCAAGGACCATGAGATGAGGAGAGACTGAGGATCTACTGCAGACTGGAACAGCTCGATACAGAGGACCTGTGCACAGGATCCTGGACCAGCATCGGGACAGTCGGCAACACTGAGAGGGGCCTGCCGCACCCCTGCTGATCGCCGATGGGGAGGGTGCGCAGGGATGACGCAGGGAGTGACCTTGTTTTTGCAAGGTAGACATGGGAGTATTTAGGGGTGATGGGGCATCATGTCAGAAAATACATATGGCGGTGGGTGATAGAGCAAATGCAGAAAAATGAGAGCCTCCTGGAAATGTTCCCAAAGAAGAGGGGATTGAGGAAGAAGGCAGAGGCCTGACAAGGGGCAGGCTCACACAGGATCTTCCCCAGGGTGCCCCAGCCCAGGGCTTCACAAGGGGCATTCTGCACAGAACCCTTCTGGGATTCTCCCTGGTTTCCCCAAACTCAGGGGACCCCTCAACTGCAGACCTCCGTGCTCAATTCCAGCCAGAACCCATGCAAAATACTCAGCAGAAGGGACAACCATTTGCCCCCATCCTCACTCAGCATCCAACGAAAAGCAGGGCCTCCTGCTCCAGCCCAAAGACTTCCATCCTGATGCCTCTAAGAAGTCTGGGATGGAGGAGGTCAAAGTGAGCTGTGGGTGAGCTGAAGTGGTCTAGAGATAGGGGCCGGGCCAAGAGAGGCAGAGGCCGGGCCAGGCTAAGCTCTGCACAGGGCTGGGCTGGAATAAAAGGTGTGAGGCAGCCCACAGGAAGACAGGGCTTTCTCCTGCTGAGTGCTCTTGGGCACTCCCTCCTGGCCCTTCCGAGATGCTCCAGCAGGTAACCTGGCCCACAGGCACCCCTTCCTCCAGGGAGACACAAGGCACAGGGCAGGCAGCCTGGAGAGCCAAGTGCTGGCTGGAATGCATGCATCATGGTCAACAGTCTTTGCTCCTTCAGTCCATCCCCTCTGGAGAAGTCTTCAACCCAGCTCTGGCTAGGTCAAGCCCTGCTCAGAAACCTTTGGTGCCAGTTCCCTACCCTGGCCAGGTTCCTCCCCTACTCCTCCACTCACCTCTTGCCACTCTTCCTTCCCCCGTCCCAGATGCCTTGCTGCCCCCACCACAAAGGACCTGCCCGCACCTCCCCTCTGTCCCTGCCTGGCAACACACACAGTAAGTGCCCAGCCAGTATTTGCTGACTTCAAAGCATGCCTCCTGGACCCGTCAGAGTCCCAGCACTGTCAGCATGGGTTTGTCTGCACAGAGTAAGTCCCAGGGTTTTGCCTCTTGGCTCCAGAGTGCAGGGAGCAGACCCACGGGGACACAGGGCACCAAGTGGCTTCGATGGGGCCTGAGCAAGACAGCTTGACAGTGTAAGACGAAGGCCCGGCTTGGCCTGGCCCAGCAGACGAGCCTGTTGTCTCCGCCACCTGCTCCCAAATGCCTCCCTCCCCAGGTCCAGCCCCAGGGCCACCCACCTGCAGTTTCCAGAGGAAGTCGAGGCGGGCAGTGGACTCCACCTGCTGGGCGTGCAGGTACAGGGCCAGCACAAAGACTGAGATGATGATGGGCGTCACCACCTTCAATGCCACCTTGGTTGCATGCTCAGGTCTGTGGGGAGGTGGTGGACAGGCCTGAGACGGCCGTGGCTCCTCACAGCGGGCTCTGAGGACCCCACCCCCACCCACTGCTGGCCCTGTTTTCTTCCTCCCACTATACCTTCCCCTCTTCCTTATCCCCCTGCTCAAACTTTGCCGCACGCGTGCCTCCTCCAGAAAGCCTTCCTGGCTGGCAGCCCCATCTCAGACCCTGCTTGCACCTGCAGCTCAGGCAGCCATTACTCCTCTCCTGACGCCTTACAACCCCCCATCACTCGGGAGCTCCCCTCTGGTCAGATCAGGGGATGAACTTAGCTTTCTAAAAGGCAGCATGTACATCCAGATCCTTCTCTGGACAAGACAGGGGCAGTGGGTGCAGTAAAAGGGCACCACGCAGGCCATGCTGACCCTGTCTCTGGACAACCTTGGGCAAGTGTCTTAATCTCTCTGAACTTTAGTTTGCTTATCTGTACAACAGGATAACAATAGCCACATTTCAAGATGGTAGTAAGGATTAAAGAGATATTATAAACAAAATGCTTAGCACAGCATCTGACCAACAGTAGGTGCTGCAAACTAGTAGCATTATTGTCTAATTCTGTTTTTGTTACTAATAGATACTCTTAACAAAAGCAGCCATTCCAAATCCTACGTCTTGTGCCTGCCAAGAGCTCAACCCCTGGAAGGCTGCACAGAGGCTCCAGTGACCCCCCGCCCCTTGCCCAGGCAGCAGCCCTCAATGCAGGGACGGGTCCCACAAGCACTGCAGCCCTCGCCTTTGTTCCTTGACTCCAGAGGGAAAGTAGGTACCAGCTTCCATTCTCCTGTGTCTGAGGTTCTCACACAGGCTCCTGGGGAAGAGCTTGAGGTTAAATGCTTTAACATGAGGCCTATGGGATGATCTGAAGCCGGTGATCCCAACCACAGAGACTACAGATCACCTTGGCAGGGATCATGAAAGTGACCAGGGCCTCTGCCCCCCGAGGACGCCTTGCTACCCCAGGAGGAACCAGCCTCCCTGTCCTGTTGGCCTTCTCCTTCACTACCCACCTTGCCACCAAGGCCCCTCCCACCTGGGCACCAGCTGCCCTCCCTGTCTGCTCTGTGCTGAGGGCAGGGAGCGACCCTATCCGAGGAGCATCAACTCACCACTGGGAGGTCCCGTTGTTGAAGAAGTCTCTGTGAAGAGAGTTGGGGAAGACTGGTCAGGGCCACCCTTCTGCATAAGGCGGCCTCCACTCCTGCTCAGCCCCCACGCCCTGCTCTGCTGTCCCCACCACTGCTGCTCCTTGGCTCCCCAGCCCCATTCACCCTCCATATCCAACGACATTTTCAGGGTGGGAGGTGGCAGAAAGCCCAGCCCCAACTAGCATTGGATACTCATGACCACAAACCACCCAGCTCTTACCTGAAACCCTGCCTTCCCAGACCCCAGCATATCTACCTGGGTGGAGGCCTGCCCGCCTCTCCCCCTCCCAGGCCTTTGCTGCCATCCAGAGGGCGTGGAGGAGAGATCCCACAGCTGCGCTGCTTGGTGTGGCAGCCGCTGGCCACGTGCAGCTACTGAGCCTCAACATGGGGCTGGTGCAAGCTAAAATGTGCTGTATGTGTAAAACATACACCAGGTTTTGAATAATTAGTGTAAAAAAAGGTAAAATATTTCATTAAGAATTTTATATCGATTATATCTTAAAATGATATTTTGGCTATATAGTACTTGTTAAATAAAAGTCAAATTATACTTTTTGCCTTTTTAATATGGCTATAAGAAAATTTTAAATTACATAAGTGGCTTTTTATTTTTTTATTTTTTTGAGACAAAGTCTTGCTCTATCTTCCAGGCTGCAGTGCAGTGGTGCAATCTCGGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCTATTCTTGTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGACGTGGGATTTTGTAGGCCAGGCTGGACTCAAGTGATCCAACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTG
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Task1_train_7458
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A variant was discovered on Chromosome 3, affecting ADCY5 (adenylate cyclase 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant
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GCCTGGGCAACAGAGCGAGACGCTGTGTCCCCACCACGCCGACCCAAAAAAAAAAAAAAAAGAAGCATCTTTCATGCAGCTGTGCAGCGCCTAGTGAGAGTTGCCCACCCTGGAATGAGCACATCACCTTCCCGCCCAGAGAGGTCAGACCCCTGGCTTCCTACCCCACCAAGGGCACACTCAGAAACTTCTCTCCGTGCCTGAGCAAGTGCAGGCCAGACTCCCTGCTCTGTTCTCCTAAATGACCACCCCCTCCCACTCCTGGGATTCCCTGCAGCCAGAGGAAGGAGCCCAAGAGGGACGGGGATACTCACTGGGGCACGATGGTGATCTGGACAAAGCAGATGAAGAGGAAGACGAGCGAGGCACACGCCACATAGGCACCAAATCGGTCGTCTACCTGCTTGGAGTACTGAGAGGAGACGGGCAGGGTGAGAGGGGCCAAGGTACCTGGCCCGGTCTGCTCCAGCCCTGTCAATCCCACACACCCAGGGAAGCCACTCATGGCTGGTCACCTGTGCAGCCCACTCCCACAACAGGGAAGACTCGAGAACCAGAGTCAAACTTAGACCCCAGGAAACCAGTCCAGATCACCAGAAGGTAGTGCCTATGGAGAGGGCAGTTGAGACAGACCTGAAACCTTCTGCAGGTGGGTCACCTTCAGAGTAATCCATAATGATCATGGCTGTACATGACTGCATGCCATCTACACGCTAGGAAACATGCCAGGTGTCTACAGGCATCATCCAGCACCCCCACAACAGCCCAAGAAGTCGGAATAAAACTGCTGTCATTTCTTCTTCAGAGATGAGCAAGCTGGGCCTCAGAGAGCTCACATGACTTGTCCAAAGTCACATCTGAGGCTCCCAGCCCCAGCTCCGCCCATGATACCAAGCAGCCACACTGATGGAGGTTGGGCTGGCACAGTCACCCAGAGTAACACCCAAGTCAGGTCCATATACTGCTGGTCCCTTTCCACAGCTTCACCTTGCTAATTCAGTTTGCTTGCCTGGTTTAATGCTGATGAGCATACCACAAGTCCATTTTAACTGAACCCTGGGGAGATGCTGCCACAAAGTCCAAAGAGAACTGACTGGACCAGGGTCTGACTCCAGCTCTGTCACTACTTCACTGGGGGGCCGAAAGCAGGTCCCCCAACCACTCTGGGCTTTAGCTTTCTCATTCACAATGTGAAGAAATGCAACAGAGAGATCTTGACTGTCCCTGCCAACTTTAACACCTTGAGGTCCCAATGTGACAAAGCAGTTGGGCTGTCCATTGACAATGATAATAACAATAATGCAAATAGCAACTAATATGCACCGAACGCCTACTATGCGACAGATACTGTTTCATACATAGAAACTGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCATTTTGGGAGACCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGTCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCGGGCGCCTATAATCCCAGCTACACAGGAGGCTGAGGCAGGAGAATCACTTGAACCTCGGGGGAGGAGGTTGCAGTGAGCCAAGATCAAGCCACTGGACTCCAGCCTGGCCAACAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAATGAAAAAAGAAAAAAAAAAAGAAACTCATTTCATCCTCACTATGACCCTACGAAGTGGGAATGTTAACTGTCCCCATTTTCCAGATAATGAAACGAAGGCACAGAGAAGTCAAGGTGTATCCCTTCCAACCAGGGAAGCCTCCCTAGAACTCGCATCTCTCTAGGTAGTGCAGCATCAGAGCTGGGGAAACTGAGGCCACCCCTTCCGTGGTGCTGGGGGCATGAGGGAGCCCTCCTGTTTTCTTGCCCTCCTCCTCCTGGTCCTGGTTCAGCACAGGGGCCTCCTTCCCACCCAGGGTGCTGTACCTTCTTCTCTAAGTCAGGCTCCCTGAAGGTCAGGAGGAACTTGCGGACGTGCTCAGACCGAAGCCTATCAATGCTCCTGGCGTCAATGGCACGGCCCAGAAACTCATCCACTTCATCCTCAGGGTTCGCACTCTCCTGGGCGTTCCTGGGGAGCAGAAGGCACGGGCGTGAGACAGGCTGACCACAGGGGCACCAGCAGAGGGCTGGCTCTTCCGACCATCCCCCCAGACTCTCGGAGAGGCCTGGCAGCTGTCCACCATCAGCCCAATCAGGGCAGCGGGAGCTGAGACTGAGACCAGAAGCCTAAGCCGTGCTCTTAACAACTGCACAGATGAACAGACAACTGACCAAGTCTCAGTCCCCTTCGGGCTGAAGGGCCTTGCTGACAGGCTTTTCTGACTCTGTTAACATATTATATTAGCATAACAATGTGAGCTACCATTGACAGTTTAGTTGGACTTTCCCTACAGCTAACAGGCTCTGCTCTTTACCCTCTAGCTCTATCCTTCTGAAAAGAAGCCCTAGATCAGGCAGTGAGAGTTTCTGCCAGTTTCTGCCACAGGGACTGTGGCCCACCTGGTTTCTTTCACCCAGCTCAGGGCACTCTTGAGAAGCAGGTTTCATAGACTTGGAGTGCTGACCTTCAACACCCTGTTTCTCAGGGTGGAGCCCAGTCCTGGAGTGGAATTTCTGACAGTCCTGAGAACCAGAAGTGAAGGAGGGAGAAGAGGGCATTGCCTCGGGGCACTGGATGCCAGGCACTGCTGACCAGTGTGTAAGGTCTGCACTTTCCTGAGGGAGCCATGTGTGCACACGTGCACAAGCGTGTCACGGAGATAAAATGGGCAGTGCTGAGGCTCTGTCCTTCTGCTGGGTGGCCTGGGCTTCTGGGCTGCCCTGGCCTGTCTGGGGCTGCTGCTGACCACCTGACGGCTAGGGTGGGCTCCATTCACTCTCAGCTAAGACTGCAAGAGGAGTCATTTTCCATGGAGTGTGGAGAAACCAAGTGATAAGGTGGATTGGGAGATATCCCCCAGACCCAGGGAGCAGGAATAAGGAAGGGCATATTACTCACTTGTCCTTGGGGTCTTCAAAGCCCTAGAAGAGAAGGATAGAAAGAGAAAGAGAAGAGAATGAGAACAGAGAGAACTGAAAGCTCAGAGGCGTCTAGATGGCTGCAGCTCATCTCTACAGTCTCCCAAAGGACGTGGACATAGAGAGGATTGTCATTCAGCAGCTCCTTTCCTTCCTTCCTTCACTTGGAGAATACAGCTGGGTTCTCCCTAAGAGACAGGTGCTGTGCTAGACGCCGGGGATGCCCTGAGATTTCACTTCATCCACCGGCACAATCCATGTGTCTAAGCTCTTCCTGCCCCCATGCTCAACTCCTTTCCTAAATCTCTCCTCGCCATCCTCCTGCACCCTGGGCTCAGAGGGTCCCCTCTCAATCCTGCCTCTTACTCAGATGGAAATCGGGAATTGCTGGGCTGCACAATCTCTGTCACACGGACACACTCATGCACACTCACCTCCTTGTGTACATCACACCGAGCACACATAAAATCCCCAGGAGTTCGCACATTTTGCACTTAAAAAAACTACACTCTAGTTACCTGCAACAGCTGTTTCAGTAACTGAAAATCAATGCTTTCTTGTAAGGCCACGGTTGTTTGGGGACTCAGAGGGTAAGGAACCCACCTGCCACAGATCTGACTGCTGTTCTATCAGAGTTGAGGGTGGGAAGGGCCCTTACCGGCTGTCAAACTCAAAGCCCTCTTGAATCTATGAATTCCGCAAAGGGAGAGATGTGTGTCGGGGTCTCAGCAGTGGTGGCAGAATGGAGGCTTCCCCACTGTGGGGAGGGGTGGAATCTCAGAGGTGGTGCGGAAGGTGACAAGTAGCCCCAGGACTTGCTGTTTAGATTAGCCTCAGGATGCCAGGACTAGGACAGAGGATGCCCCTTCCCTGGCAGTGTGGAGCACTCTGCTGGGCAAACAGAGTTCGGCAAACACTGGGTGAACCCAAAATCCAAATGAACACACCACTCTTCATTCCCAATGAGGACACGGTTTGAAAATACAAAAAGAGGGATTTATGTTCCTCTCCATGAGCCAGGGCCACCAGGCAC
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GCCTGGGCAACAGAGCGAGACGCTGTGTCCCCACCACGCCGACCCAAAAAAAAAAAAAAAAGAAGCATCTTTCATGCAGCTGTGCAGCGCCTAGTGAGAGTTGCCCACCCTGGAATGAGCACATCACCTTCCCGCCCAGAGAGGTCAGACCCCTGGCTTCCTACCCCACCAAGGGCACACTCAGAAACTTCTCTCCGTGCCTGAGCAAGTGCAGGCCAGACTCCCTGCTCTGTTCTCCTAAATGACCACCCCCTCCCACTCCTGGGATTCCCTGCAGCCAGAGGAAGGAGCCCAAGAGGGACGGGGATACTCACTGGGGCACGATGGTGATCTGGACAAAGCAGATGAAGAGGAAGACGAGCGAGGCACACGCCACATAGGCACCAAATCGGTCGTCTACCTGCTTGGAGTACTGAGAGGAGACGGGCAGGGTGAGAGGGGCCAAGGTACCTGGCCCGGTCTGCTCCAGCCCTGTCAATCCCACACACCCAGGGAAGCCACTCATGGCTGGTCACCTGTGCAGCCCACTCCCACAACAGGGAAGACTCGAGAACCAGAGTCAAACTTAGACCCCAGGAAACCAGTCCAGATCACCAGAAGGTAGTGCCTATGGAGAGGGCAGTTGAGACAGACCTGAAACCTTCTGCAGGTGGGTCACCTTCAGAGTAATCCATAATGATCATGGCTGTACATGACTGCATGCCATCTACACGCTAGGAAACATGCCAGGTGTCTACAGGCATCATCCAGCACCCCCACAACAGCCCAAGAAGTCGGAATAAAACTGCTGTCATTTCTTCTTCAGAGATGAGCAAGCTGGGCCTCAGAGAGCTCACATGACTTGTCCAAAGTCACATCTGAGGCTCCCAGCCCCAGCTCCGCCCATGATACCAAGCAGCCACACTGATGGAGGTTGGGCTGGCACAGTCACCCAGAGTAACACCCAAGTCAGGTCCATATACTGCTGGTCCCTTTCCACAGCTTCACCTTGCTAATTCAGTTTGCTTGCCTGGTTTAATGCTGATGAGCATACCACAAGTCCATTTTAACTGAACCCTGGGGAGATGCTGCCACAAAGTCCAAAGAGAACTGACTGGACCAGGGTCTGACTCCAGCTCTGTCACTACTTCACTGGGGGGCCGAAAGCAGGTCCCCCAACCACTCTGGGCTTTAGCTTTCTCATTCACAATGTGAAGAAATGCAACAGAGAGATCTTGACTGTCCCTGCCAACTTTAACACCTTGAGGTCCCAATGTGACAAAGCAGTTGGGCTGTCCATTGACAATGATAATAACAATAATGCAAATAGCAACTAATATGCACCGAACGCCTACTATGCGACAGATACTGTTTCATACATAGAAACTGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCATTTTGGGAGACCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGTCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCGGGCGCCTATAATCCCAGCTACACAGGAGGCTGAGGCAGGAGAATCACTTGAACCTCGGGGGAGGAGGTTGCAGTGAGCCAAGATCAAGCCACTGGACTCCAGCCTGGCCAACAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAATGAAAAAAGAAAAAAAAAAAGAAACTCATTTCATCCTCACTATGACCCTACGAAGTGGGAATGTTAACTGTCCCCATTTTCCAGATAATGAAACGAAGGCACAGAGAAGTCAAGGTGTATCCCTTCCAACCAGGGAAGCCTCCCTAGAACTCGCATCTCTCTAGGTAGTGCAGCATCAGAGCTGGGGAAACTGAGGCCACCCCTTCCGTGGTGCTGGGGGCATGAGGGAGCCCTCCTGTTTTCTTGCCCTCCTCCTCCTGGTCCTGGTTCAGCACAGGGGCCTCCTTCCCACCCAGGGTGCTGTACCTTCTTCTCTAAGTCAGGCTCCCTGAAGGTCAGGAGGAACTTGCGGACGTGCTCAGACCGAAGCCTATCAATGCTCCTGGTGTCAATGGCACGGCCCAGAAACTCATCCACTTCATCCTCAGGGTTCGCACTCTCCTGGGCGTTCCTGGGGAGCAGAAGGCACGGGCGTGAGACAGGCTGACCACAGGGGCACCAGCAGAGGGCTGGCTCTTCCGACCATCCCCCCAGACTCTCGGAGAGGCCTGGCAGCTGTCCACCATCAGCCCAATCAGGGCAGCGGGAGCTGAGACTGAGACCAGAAGCCTAAGCCGTGCTCTTAACAACTGCACAGATGAACAGACAACTGACCAAGTCTCAGTCCCCTTCGGGCTGAAGGGCCTTGCTGACAGGCTTTTCTGACTCTGTTAACATATTATATTAGCATAACAATGTGAGCTACCATTGACAGTTTAGTTGGACTTTCCCTACAGCTAACAGGCTCTGCTCTTTACCCTCTAGCTCTATCCTTCTGAAAAGAAGCCCTAGATCAGGCAGTGAGAGTTTCTGCCAGTTTCTGCCACAGGGACTGTGGCCCACCTGGTTTCTTTCACCCAGCTCAGGGCACTCTTGAGAAGCAGGTTTCATAGACTTGGAGTGCTGACCTTCAACACCCTGTTTCTCAGGGTGGAGCCCAGTCCTGGAGTGGAATTTCTGACAGTCCTGAGAACCAGAAGTGAAGGAGGGAGAAGAGGGCATTGCCTCGGGGCACTGGATGCCAGGCACTGCTGACCAGTGTGTAAGGTCTGCACTTTCCTGAGGGAGCCATGTGTGCACACGTGCACAAGCGTGTCACGGAGATAAAATGGGCAGTGCTGAGGCTCTGTCCTTCTGCTGGGTGGCCTGGGCTTCTGGGCTGCCCTGGCCTGTCTGGGGCTGCTGCTGACCACCTGACGGCTAGGGTGGGCTCCATTCACTCTCAGCTAAGACTGCAAGAGGAGTCATTTTCCATGGAGTGTGGAGAAACCAAGTGATAAGGTGGATTGGGAGATATCCCCCAGACCCAGGGAGCAGGAATAAGGAAGGGCATATTACTCACTTGTCCTTGGGGTCTTCAAAGCCCTAGAAGAGAAGGATAGAAAGAGAAAGAGAAGAGAATGAGAACAGAGAGAACTGAAAGCTCAGAGGCGTCTAGATGGCTGCAGCTCATCTCTACAGTCTCCCAAAGGACGTGGACATAGAGAGGATTGTCATTCAGCAGCTCCTTTCCTTCCTTCCTTCACTTGGAGAATACAGCTGGGTTCTCCCTAAGAGACAGGTGCTGTGCTAGACGCCGGGGATGCCCTGAGATTTCACTTCATCCACCGGCACAATCCATGTGTCTAAGCTCTTCCTGCCCCCATGCTCAACTCCTTTCCTAAATCTCTCCTCGCCATCCTCCTGCACCCTGGGCTCAGAGGGTCCCCTCTCAATCCTGCCTCTTACTCAGATGGAAATCGGGAATTGCTGGGCTGCACAATCTCTGTCACACGGACACACTCATGCACACTCACCTCCTTGTGTACATCACACCGAGCACACATAAAATCCCCAGGAGTTCGCACATTTTGCACTTAAAAAAACTACACTCTAGTTACCTGCAACAGCTGTTTCAGTAACTGAAAATCAATGCTTTCTTGTAAGGCCACGGTTGTTTGGGGACTCAGAGGGTAAGGAACCCACCTGCCACAGATCTGACTGCTGTTCTATCAGAGTTGAGGGTGGGAAGGGCCCTTACCGGCTGTCAAACTCAAAGCCCTCTTGAATCTATGAATTCCGCAAAGGGAGAGATGTGTGTCGGGGTCTCAGCAGTGGTGGCAGAATGGAGGCTTCCCCACTGTGGGGAGGGGTGGAATCTCAGAGGTGGTGCGGAAGGTGACAAGTAGCCCCAGGACTTGCTGTTTAGATTAGCCTCAGGATGCCAGGACTAGGACAGAGGATGCCCCTTCCCTGGCAGTGTGGAGCACTCTGCTGGGCAAACAGAGTTCGGCAAACACTGGGTGAACCCAAAATCCAAATGAACACACCACTCTTCATTCCCAATGAGGACACGGTTTGAAAATACAAAAAGAGGGATTTATGTTCCTCTCCATGAGCCAGGGCCACCAGGCAC
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Task1_train_7459
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The variant affects gene ADCY5 (adenylate cyclase 5), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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TGTCAAGGAAACCATGAGGAGCTGTCCCCACAGGGCCCTGAATCCCCCATCCCTCTTCCTGGTGCCTGTGGAGGGTCTGACACAGCTCCCATGAAGGGCCCCCGAGCCAGGATCTGTCCCCTGGGGTACTGCATGGTAGGATAAGGTGTCCCTCTGATGTCCCTCTTGGCACGGGCACCTGCCCTCAACAGCCCTGCCTGCCTCCCTTTAAAAATCACCTTTGCTGTCATCCAAGACTCTCTGAACTCTTCTCACAGACTAATTTTGTCTTTCGTTTCACTTCTTAGGAAGAGAAATGGGGAAGCTTTTCTCTATCAAAGGGCACTGACTGGCAGATAAATTCCACAGAAAGACTCATAAGTAAAAGGCATTTTAGTTTAGGGAGAAATAGAAAATGTTCTCTTGATTTGCTTTAAAAATTAAGAGCATGGAACATGACACTATTAAAAATAGAACACTGAAGTCTGCTAATAATTTAGCTTTATATTTCAGCAAGTGTGGGCTGAGACAAAGGGGGAAAAAGAAACAGACTAGAAAGGGAAAGGGGAAAATAGGTTCAAGAAACAAAGACATAGGCACATGTGGAGATGGACACCGATCTATGGATCAGAGAGAGAGAGATTAGGGCAAGTGTCCACCCCAGTAAAAGGCAAATGAAAAGGAGAGAGATGGAGATAAAATATACGGTATCCACAGACTCCCTTGATGCTGATTTCCAGCTTGTGGACTTCTGATGTCTTGTTGCTAACTGATTTGAGGCCTGTTGCATTTTTGCAAAAGAAGCACTATTAAAAGATTCCCTCTTTACCATCCTTTTTGCAAGGCCTAACTGCCGGGGTCCTTTTTAAGATGCAGGAACCGCAACTGCATAAGAAATTCATGACTTCACTCAAGGAAAGAGAAGGAAGCAGCAGGTCACGAAAATGTTCCTCCCTGGAGGAAGGGAGCCCCTCAGCCCCCCGGCCCCCAGCCCACAGACCCGCTTCTGGGTGCAGCGCAGGATGAGGAAGGTCTCGATACTGTGCTCCTTGAGGTAGGCGTTGCGCTCGCCCCCACAGCCTGGCTCCACCTCGTAGTCCCCATTCAGGTAGTTGAGTGTAGCCTTGGTGATGTGGATGCGTCTACAGGGGGGCAGGGATCAGGGTGGAGAGGGCAGAAAACTCAAAGTCATAATGTCAGCCCCCGTGAAAAACCAAACTGCAATTAGTGGGTTCACCACAATTCAAACCCTAGGGCCCCAAGCTCTGCTCAAATCCTAACCTCAACCTTGCATGGTACCCTCCATTACTATCAAGTGGGCTCTCATGCCCACTGCAACCACACTGTCTCACACTGAACATCCTGGCACAGACCACTACATTAGCTTGCCCAAGACAACATGGCCTCCAGTCTTGCAAACTTTGCAAGCCTCTCACTCCTGCTCAGAAGCCAGCAATGGCTCCTGCACGCGACAGGACGGAGTCCAAATTCACGAGCCTGGCACTCATGCCTTCTGAACACAGGCGCTGTTTCTCCTAGCCGTCCCTAAAAGGCCATCGGCTCTTCTCCCATTCCTTGGAAATGCTGTGTCCCCCACACCTGTGCCTTGCCTCGCTGTGTTCCCTCCGCCTAGCAGCAGGCTCTTCCCACCCCACCTTCCTCACCCCTCCCAGTCCTGCCTCCTTTATGGTCTAGCCATCCCAGAAACTATCTGTGATTCCTCCCTCCTCCAGAACTCTGTCTATCACACCTCACCAGCCACCATGGTTTGGGTCAATATCTTCTGGGTCAAGGCTCAGGGAAGGGTGACATAATGCTCCCACAACTGGCCAACGGTGGCACAGGTGATTTGGCAAGTAGAGGAATTTCTACTTCCACTGTGCTCACCCCAGCGCCCCCACAGGTGCTTGCTGCCCATCCTGCCCACCCCACCCTGCCCCGCCTCGCCTCTGCAGGATGGTCACCCTGGGTGGGCTTGAGTGGGAACCCAGGTCGGGGCCCCAAGCCACCCACAGCTGTCACTCACCCTGCCTTGCCGCCAGCCTCCATGTGGTTGGCTAGCGTGACATCGTTAGACCAGACGTCGAACTGCCACTTCCTGAGACCAAGGACACCGCAGTGTACTCGCCCGCTGTGAATTCCCACACGCATGTTCACGTTCACCCCTGTCACCTCCCGGACCAACCTGGGGATGGAGCAGGAGTAAAGCTGGGAGAAGGCTGGAGGCCAGGCACACAGAATGGGGGTGAGGCTGCAGGTGCAGGGAAGGTGAAGGTGCGGGGGTCAAAGAGTCTTCTCTCTCCCATCCAGCCCTAGAGTCCAAGAACGTTCAGCCTGAAGGGCACTGGGGCGGGCGGCAGGTGCAGTCGGCTGTGAAAGGGGCTGTTCCCGGCCTGGCCACAAGGTGGCGCGGTGCCACACTAAAACCTAGAGCCCTGCTGCTTCCCCTCCAGGAGGGCACCTCTGGCCAGCACTGCCCTGTCAATTAAATTGTGATTGGAAAAATGCAAATGCACGTTAGGGCCGACTTGAATTAAACAGGGAAGTTACCACCACTCCAAACCCTATTTGTATAATGCTCTTGTGGGTAAGACAGAAATGGCTTTTGGATTATCTTTTTATTGGATTTATCCACACTGCTGCTTCCAAGATGTTAGCAGGGTGATGGCAAAAGCTGGTTACCCAGGTTTCAAGGGTATGGCCTGCTCAGGAGGGAAGGGGAGCCTGGGCAGGTGCAGGGGCTTAGGGTGCTCCATGCCCTAGAGGAAAGCTTGGTCCCGGCCACATGCACCACATATCCATATCTGGGAGCTCCCAGTAGACAGGGCAGGCCCTCCGTATGCACTTATAACTCCTCATGCTGGGCGAGCAGTGGAGGCAGACTGGGAAGGAAGCCATACATCTCCAGGTGCATGTCTGAGGCCCATGGGAACCTGCCCAGCATCTGCAGGAGAGGGTGCAGGTGCCAGGAAGTAGGGTAATGGATGAACTCAGATTGCACTTTCTAGGGCCCTAGACCCTCCCTAACACCTGGGGCATGGGCGCACTCAGCTAGCCAGGGGACCAGCAGTCTGACTTGCCCCAGTGGGTGGGACCACCACTGAGACTCCCTGACCCCATCCCACGCCATCAGCAAGAGGCTGACACCCACTGCAGGGGAGACTGAGGTCACCCATCATTTCTCTTGTCCTGAATCAACTTGGTAAATACCTCCACTGCAGCAGAATACCTTCACTGAAATACTTTCCATCCACAGTGCCTTTGGATACTTGCTTAGCTTGACAATGGCTCATTCTGTCTTTTTGGCTTAACTCCACGGCCACCTCCTTCAGGCAAACTCTCTTGATCCTCTCAGTGGAATCAACTGTCCCCTCCTGGGCCCTCCTTCAATAGTCTGCCTCCCTTACCTCGCCGTGTCCACATGACGTGCCTTGTATCTGAGCACCAGGAGTCCTGGTCTCTCTCCCTTAAGGCTCTGTGCTTCCGGGGAGACTGATTGTCTAGCTCAGGCTTGCTGGGGACACTTGGCAAGTGCTGCAAGTAGAACTGAGCCAAACCAACGGACCCGGCTGCCTTCCTGGCAGCCACTCCCGCCTCTGACCTTGCCCTCTGTGCCTTTTTTCTCTGCCCCTGCCCAAGCTATTTCTAAAGCCCAAAGTCTCTGACTTGCTCCCTTGGCTGTCACATAAGCTTGCACCACCCATGTTTTTCAATGACCAGGGCTCCTTCTGTGGCCAGTGATAGCCATGAATTGGCCAAAGTGCCTTTTTGCTATGGCTCACAGGCAGGGTGATTCTCTCTAAGCGGAACACCTGCATTTGAATCCGCCTGCCTGGTAGTAGCACCCTGGGGAGTTGTCTAACCCCTATGAGCCCAACCTTTCACATCTGGGAAGAAGTGGAACCAGCAGTTCGATGCCTGGCTGGGTGTCTGTAGGAAACATGAGGCCCCGGAAGTGCAAGGGCCTCACACGGCACAGGATCCTCACATGGCTGCCAGCCTCTCCTCCACTCCTGGAGTCTGCAGAGCCCTCCCCTCCCACACACTTCCTCTGGGAAAAGCTGCCCAGGCTGCTGTAGGGAACAGGAACCCTGGAGAAGGCAGAAAGTCTGGTGGC
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TGTCAAGGAAACCATGAGGAGCTGTCCCCACAGGGCCCTGAATCCCCCATCCCTCTTCCTGGTGCCTGTGGAGGGTCTGACACAGCTCCCATGAAGGGCCCCCGAGCCAGGATCTGTCCCCTGGGGTACTGCATGGTAGGATAAGGTGTCCCTCTGATGTCCCTCTTGGCACGGGCACCTGCCCTCAACAGCCCTGCCTGCCTCCCTTTAAAAATCACCTTTGCTGTCATCCAAGACTCTCTGAACTCTTCTCACAGACTAATTTTGTCTTTCGTTTCACTTCTTAGGAAGAGAAATGGGGAAGCTTTTCTCTATCAAAGGGCACTGACTGGCAGATAAATTCCACAGAAAGACTCATAAGTAAAAGGCATTTTAGTTTAGGGAGAAATAGAAAATGTTCTCTTGATTTGCTTTAAAAATTAAGAGCATGGAACATGACACTATTAAAAATAGAACACTGAAGTCTGCTAATAATTTAGCTTTATATTTCAGCAAGTGTGGGCTGAGACAAAGGGGGAAAAAGAAACAGACTAGAAAGGGAAAGGGGAAAATAGGTTCAAGAAACAAAGACATAGGCACATGTGGAGATGGACACCGATCTATGGATCAGAGAGAGAGAGATTAGGGCAAGTGTCCACCCCAGTAAAAGGCAAATGAAAAGGAGAGAGATGGAGATAAAATATACGGTATCCACAGACTCCCTTGATGCTGATTTCCAGCTTGTGGACTTCTGATGTCTTGTTGCTAACTGATTTGAGGCCTGTTGCATTTTTGCAAAAGAAGCACTATTAAAAGATTCCCTCTTTACCATCCTTTTTGCAAGGCCTAACTGCCGGGGTCCTTTTTAAGATGCAGGAACCGCAACTGCATAAGAAATTCATGACTTCACTCAAGGAAAGAGAAGGAAGCAGCAGGTCACGAAAATGTTCCTCCCTGGAGGAAGGGAGCCCCTCAGCCCCCCGGCCCCCAGCCCACAGACCCGCTTCTGGGTGCAGCGCAGGATGAGGAAGGTCTCGATACTGTGCTCCTTGAGGTAGGCGTTGCGCTCGCCCCCACAGCCTGGCTCCACCTCGTAGTCCCCATTCAGGTAGTTGAGTGTAGCCTTGGTGATGTGGATGCGTCTACAGGGGGGCAGGGATCAGGGTGGAGAGGGCAGAAAACTCAAAGTCATAATGTCAGCCCCCGTGAAAAACCAAACTGCAATTAGTGGGTTCACCACAATTCAAACCCTAGGGCCCCAAGCTCTGCTCAAATCCTAACCTCAACCTTGCATGGTACCCTCCATTACTATCAAGTGGGCTCTCATGCCCACTGCAACCACACTGTCTCACACTGAACATCCTGGCACAGACCACTACATTAGCTTGCCCAAGACAACATGGCCTCCAGTCTTGCAAACTTTGCAAGCCTCTCACTCCTGCTCAGAAGCCAGCAATGGCTCCTGCACGCGACAGGACGGAGTCCAAATTCACGAGCCTGGCACTCATGCCTTCTGAACACAGGCGCTGTTTCTCCTAGCCGTCCCTAAAAGGCCATCGGCTCTTCTCCCATTCCTTGGAAATGCTGTGTCCCCCACACCTGTGCCTTGCCTCGCTGTGTTCCCTCCGCCTAGCAGCAGGCTCTTCCCACCCCACCTTCCTCACCCCTCCCAGTCCTGCCTCCTTTATGGTCTAGCCATCCCAGAAACTATCTGTGATTCCTCCCTCCTCCAGAACTCTGTCTATCACACCTCACCAGCCACCATGGTTTGGGTCAATATCTTCTGGGTCAAGGCTCAGGGAAGGGTGACATAATGCTCCCACAACTGGCCAACGGTGGCACAGGTGATTTGGCAAGTAGAGGAATTTCTACTTCCACTGTGCTCACCCCAGCGCCCCCACAGGTGCTTGCTGCCCATCCTGCCCACCCCACCCTGCCCCGCCTCGCCTCTGCAGGATGGTCACCCTGGGTGGGCTTGAGTGGGAACCCAGGTCGGGGCCCCAAGCCACCCACAGCTGTCACTCACCCTGCCTTGCCGCCAGCCTCCATGTGGTTGGCTAGCGTGACATTGTTAGACCAGACGTCGAACTGCCACTTCCTGAGACCAAGGACACCGCAGTGTACTCGCCCGCTGTGAATTCCCACACGCATGTTCACGTTCACCCCTGTCACCTCCCGGACCAACCTGGGGATGGAGCAGGAGTAAAGCTGGGAGAAGGCTGGAGGCCAGGCACACAGAATGGGGGTGAGGCTGCAGGTGCAGGGAAGGTGAAGGTGCGGGGGTCAAAGAGTCTTCTCTCTCCCATCCAGCCCTAGAGTCCAAGAACGTTCAGCCTGAAGGGCACTGGGGCGGGCGGCAGGTGCAGTCGGCTGTGAAAGGGGCTGTTCCCGGCCTGGCCACAAGGTGGCGCGGTGCCACACTAAAACCTAGAGCCCTGCTGCTTCCCCTCCAGGAGGGCACCTCTGGCCAGCACTGCCCTGTCAATTAAATTGTGATTGGAAAAATGCAAATGCACGTTAGGGCCGACTTGAATTAAACAGGGAAGTTACCACCACTCCAAACCCTATTTGTATAATGCTCTTGTGGGTAAGACAGAAATGGCTTTTGGATTATCTTTTTATTGGATTTATCCACACTGCTGCTTCCAAGATGTTAGCAGGGTGATGGCAAAAGCTGGTTACCCAGGTTTCAAGGGTATGGCCTGCTCAGGAGGGAAGGGGAGCCTGGGCAGGTGCAGGGGCTTAGGGTGCTCCATGCCCTAGAGGAAAGCTTGGTCCCGGCCACATGCACCACATATCCATATCTGGGAGCTCCCAGTAGACAGGGCAGGCCCTCCGTATGCACTTATAACTCCTCATGCTGGGCGAGCAGTGGAGGCAGACTGGGAAGGAAGCCATACATCTCCAGGTGCATGTCTGAGGCCCATGGGAACCTGCCCAGCATCTGCAGGAGAGGGTGCAGGTGCCAGGAAGTAGGGTAATGGATGAACTCAGATTGCACTTTCTAGGGCCCTAGACCCTCCCTAACACCTGGGGCATGGGCGCACTCAGCTAGCCAGGGGACCAGCAGTCTGACTTGCCCCAGTGGGTGGGACCACCACTGAGACTCCCTGACCCCATCCCACGCCATCAGCAAGAGGCTGACACCCACTGCAGGGGAGACTGAGGTCACCCATCATTTCTCTTGTCCTGAATCAACTTGGTAAATACCTCCACTGCAGCAGAATACCTTCACTGAAATACTTTCCATCCACAGTGCCTTTGGATACTTGCTTAGCTTGACAATGGCTCATTCTGTCTTTTTGGCTTAACTCCACGGCCACCTCCTTCAGGCAAACTCTCTTGATCCTCTCAGTGGAATCAACTGTCCCCTCCTGGGCCCTCCTTCAATAGTCTGCCTCCCTTACCTCGCCGTGTCCACATGACGTGCCTTGTATCTGAGCACCAGGAGTCCTGGTCTCTCTCCCTTAAGGCTCTGTGCTTCCGGGGAGACTGATTGTCTAGCTCAGGCTTGCTGGGGACACTTGGCAAGTGCTGCAAGTAGAACTGAGCCAAACCAACGGACCCGGCTGCCTTCCTGGCAGCCACTCCCGCCTCTGACCTTGCCCTCTGTGCCTTTTTTCTCTGCCCCTGCCCAAGCTATTTCTAAAGCCCAAAGTCTCTGACTTGCTCCCTTGGCTGTCACATAAGCTTGCACCACCCATGTTTTTCAATGACCAGGGCTCCTTCTGTGGCCAGTGATAGCCATGAATTGGCCAAAGTGCCTTTTTGCTATGGCTCACAGGCAGGGTGATTCTCTCTAAGCGGAACACCTGCATTTGAATCCGCCTGCCTGGTAGTAGCACCCTGGGGAGTTGTCTAACCCCTATGAGCCCAACCTTTCACATCTGGGAAGAAGTGGAACCAGCAGTTCGATGCCTGGCTGGGTGTCTGTAGGAAACATGAGGCCCCGGAAGTGCAAGGGCCTCACACGGCACAGGATCCTCACATGGCTGCCAGCCTCTCCTCCACTCCTGGAGTCTGCAGAGCCCTCCCCTCCCACACACTTCCTCTGGGAAAAGCTGCCCAGGCTGCTGTAGGGAACAGGAACCCTGGAGAAGGCAGAAAGTCTGGTGGC
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Task1_train_7460
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An alteration has been detected in ADCY5 (adenylate cyclase 5) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Inborn genetic diseases
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GCTGCCAGCCTCTCCTCCACTCCTGGAGTCTGCAGAGCCCTCCCCTCCCACACACTTCCTCTGGGAAAAGCTGCCCAGGCTGCTGTAGGGAACAGGAACCCTGGAGAAGGCAGAAAGTCTGGTGGCACACGCCAACCCTCAGCTTGGCTGGGCACCTTTTGGCAGACAGTTTCACCCCACTGTTTCCCTGCCTCCAACTAGGCAGCCGGCAGGTCAGTCAGTCGCTCGGGCTGTGGACAGTCCCAGGGAGGGAGACGGTACCCGGGGGGTGGACACTTACGAGATGGCCTCGATCATGTCCATGCCCATCTCCACACAGCAGTGGGCGTGGTCAGCCCTTGCTTCAGGCAGCCCCGAGACGCAGTAATAACAATCCCCAAGGATCTTAATACGTAAACAGTGATTCTCCTGGAAAGCAAATTAATTTTACAAATTAAAAATAGTAGGAAAGAGAAGTGGGAGGGAAAGAAACGAGAAGCAAAAAGATTCACCCCGTGCCTGGAATAACTTGCCTTTTAGGGCAGTGAGCGCAGGCCCACGCCGGAACTCGGCATGGTCCTGGGACAGGCTTATCAGGAGACATTGGGGAGGGAGGGATTGTGGGGATGGAGGGATGGGCTGGGCAGCCCTGAGCGGCATTCCAGCTCCCAGACTCAGGAGCTCACTTTTAAAGATCCACTCCAGAGCCCCAAGAGGAATTTGGCTGGTCGAACTGCAGCTCAGCCAGCAGGGTGGCCTTATCAGCTTAAGGAAGGCCCCAAGCCCCAGTACAAGGGTCTCTGGTCCCCTCCACACCCCAGGAGTCACTCTGATTCGTTGCTTGAGATTCTATCAAAAGTTGTCTGATTCTCCTCCTTTTACAAAAAGACTGAAGCAGGCAGAAATGAGCTTTAACCAAAAGCTCACTGACTCAGCCTGTCTGAGACTTTTATCAAAAAAGAATTTTGCTCAACTAGCAAGCACATGAGTGCCAAGAATCCAACAGAGCTGCTGCTGAGTGACAGGTGCCACAGGGCCACCTGCAGGCCACCACCAATCCGTCAGTGGGATTGCGATAGAATATCAGTAATCATCAATTATGAGCGGTCCAACTCTGGCTCCCAAAGATAGTTGAGAAACAGGGATTCAAGTGCCCTTGTGGCCTGGACTCATTTGAGACCCAAGTGACAAGCAGGTGCTATTCACCTCATTCAGTTCAGTGACAAAATCCACAGGTAAGTATATGCGCTCCACCATGGAAGCCCCCAGAGAAGCCCTGGCACTGGCACTGACGGCACCAGCCTCTCATCAATAACCCGGCCTGGCGTCCTGTGTGGGCCAAGGGGAATGTGTCCACCCGTCAGTGGCCACTGACATTTAATCACTCTACAAAGGCCTAGAGCTGGGAAAGGATAATGGAGGGGTGAATAGGGGCCTAAGGAATGAACGTGTCGTTCACCACTCCCGGCCATGGAGTGTTACTTCCAATTTATCCAAACGTTTAAGAGTCCTCTTTCTGGATGCCGCTAGGGAATGGCACACAGCCGCCTGCAGGCCAGCTGGGGATTCAGACTCATTCTCTTATCAGTCTGGCCAATCTCATCAGGAATGTAGCTTGATGGCCCCTAATATGCCCCAGACAAACAGCTTATTCCCCTGGGGTTTGGGCAGTGTGACCGGCAGGCCTCACCACCCGCTTCCAAGGATGGGGGGCATGGAGGGCTCCCTACACTCTCGCTTGTGGTCAGCGACAGTGCTGAAAGCAACTCCAGCTAAGTGTGTCTCCAGGGCCCACGCAGGGCGTGAGGACACAGCCGCAGCCTAAGGGTCCCCTCTGCCCATCACCAGCAGGCTCTGCTCAGCAGGATATACCCAGGCACATGCCCATCCCTGGGGTTCAGCAGGTCCTCGACCACAGCAGCCTCCCTCAACAGCCCAGGTCAGGCCACCCCAACCCCCGGCTCAGGGTGACTCACTGCGGCCAGCTTGTCAAAGCGGGCGAAGAGCTCGTTGAGGGTCATGACCAGTTCCTGTGCAGTGCACTGGGACGCCAGGCTGGTGAAGCCCTCGATGTCAGCAAACAGGATGCTGGGGGACAGGCAGAGGAGGAAGACCCTGCTATAGGCTGAATCTTTGTGTCTCCCAAATTCATACATTACATCTTTTTTTTCTTTTCTTTTTTTTTAAGAAGAGGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGTGTGATCAAGGCTCACTGCAGCCTCGACTTCTTGGGCTCAGGGGATCCTCTCCCCTCAGCCTCCCAAGTAGCTGGGACTACAAGAGTTTGCCACCCTACCTGGCTAACTTTTTTTTTTTTTTTGGGTAGAGACAGGGTCTCGCTATGTTGTCCAGGCAGGTCTCAAACTCCTGGGCTCAAGCAATCCACCCACCTTGGCCTCACAAAGTGCTGGGATTACAGCCACGAGCCACCACACCTGGTTCCATTAAATCCTAATGCCCAATGTGATGGTATTAGGTGGGGCCTTTGAAAGATAATGAGGTCACAAGGGTGGAGCCCTCACGAATGGATTAGTGCCCTTATAAGAAGAGACAAGAGAGCTTGCTTCTTTGCTTTCTGCTCACCACTTCGTGACGATATGAGAAGGTGGCCGTCAGCAACCCAAAAGAGGGCCCTTGCCAGACTCTGATCATGCTGGCACCCTGATCCCAGACTTCCAGCCTCCAGAACCGTGAGAAATACACTGCTGTTGTCTGTAAGCCCCCGTTCTTTGGTATTCTCTTAGAGCAGCCTGAACAGACCAAGACAGACTTCCATGAGGGAGGAGAGGCAGGGCTTATGGCCAGGGCCCGGCCTGGAGCTCCCTGGGCCTGAGAGGGCTGCCAGCCAGCAAGAGTGCTGGGGGCTCCACGCGGCTGCTGGGCAGGGGACAAAGGCCCTGGCACTGGAGGGCCGAGGACGCTGCCTCTTTCTGCTGCTATCCTCCTTCTGTGCTCTAACGGCACCCTCCCCCAGCCCAGGAGGAAGGCAGGGGAGGGGCGTGAGGCCTGGGTGTGTGCCTCAGGAGGGTGCGGGACAGGGGGCCAGGCCCCAACTCCCAGTCATCTCTCAGGCCTGCCCGTTTGACCTCTGAGCACACCTCGAGGGCACTGGGCCTGCTCCTGGGGAAGAGAAGCCTTTTATACCTCTGCTCTGGAAGGCATTTCAGGCCAGAATGATGGCCCTGCAAACTCTGACTTCCCAATCCCACACAGAAAGGACTCTAGCCCCAAGCCCTCCATCCTGAGGGAGTCCTCTATCCCCTACAAGAAACACAGTAAAAGAGACCCAGGGAGGAGAAAGGAAGACACAGCCCGTCAGCGTCCCTGGAAGCCCCCAATTCCTCCTTCCCAGTTCCTCAGTGCACCAGCTGGTGATAGATCTTTCACCCGTCCCTGTGGCTTGTGTTCCCTAAGTTGAAAACATTTTCTTTTTCCTTTGAAATGGGAAGGGAAGTCCCCAGGACCAGAATCTGTAAGGGCCCCTGAATTTATTTTTCTTAAAAGGGACACAAAAATCTAAAAACTCTCATGTACTGAGATGCTCCTGGCAGCCAGGAGCTAAGCGGGAGGCTTCCAACATGTCATCTCACTGAGTCCGCGCAAAAGCCCTGCAAGTGAGGGGTCAGTGTCCCCATTTCACAGACGGGAGCCAAGTCTCAGAGCAGCCAGAGACAGCGGCGTGGCAGGATTCTTCCTCCAAGGTCTGTGCTCCTTCCCAGGCACCTCGGGACTCCTAAGGCTCCAGAACCATGTTTCAGTTTTAAAATTGATGTTGAACTAAACATATTTTGTCCTTTTATTCTAAAAATGTGTATTGGTACATTAAGCATGTCTTTTTAAATCAAATATTGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTTAAGTGGGCGGACCACTTGAGGTCAGGTGTTCGAGCCCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAGATACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCTCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACTCTGGAGACGGAGGTTGCAGTGAGCCGAGACAGTGCCACTGCAC
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GCTGCCAGCCTCTCCTCCACTCCTGGAGTCTGCAGAGCCCTCCCCTCCCACACACTTCCTCTGGGAAAAGCTGCCCAGGCTGCTGTAGGGAACAGGAACCCTGGAGAAGGCAGAAAGTCTGGTGGCACACGCCAACCCTCAGCTTGGCTGGGCACCTTTTGGCAGACAGTTTCACCCCACTGTTTCCCTGCCTCCAACTAGGCAGCCGGCAGGTCAGTCAGTCGCTCGGGCTGTGGACAGTCCCAGGGAGGGAGACGGTACCCGGGGGGTGGACACTTACGAGATGGCCTCGATCATGTCCATGCCCATCTCCACACAGCAGTGGGCGTGGTCAGCCCTTGCTTCAGGCAGCCCCGAGACGCAGTAATAACAATCCCCAAGGATCTTAATACGTAAACAGTGATTCTCCTGGAAAGCAAATTAATTTTACAAATTAAAAATAGTAGGAAAGAGAAGTGGGAGGGAAAGAAACGAGAAGCAAAAAGATTCACCCCGTGCCTGGAATAACTTGCCTTTTAGGGCAGTGAGCGCAGGCCCACGCCGGAACTCGGCATGGTCCTGGGACAGGCTTATCAGGAGACATTGGGGAGGGAGGGATTGTGGGGATGGAGGGATGGGCTGGGCAGCCCTGAGCGGCATTCCAGCTCCCAGACTCAGGAGCTCACTTTTAAAGATCCACTCCAGAGCCCCAAGAGGAATTTGGCTGGTCGAACTGCAGCTCAGCCAGCAGGGTGGCCTTATCAGCTTAAGGAAGGCCCCAAGCCCCAGTACAAGGGTCTCTGGTCCCCTCCACACCCCAGGAGTCACTCTGATTCGTTGCTTGAGATTCTATCAAAAGTTGTCTGATTCTCCTCCTTTTACAAAAAGACTGAAGCAGGCAGAAATGAGCTTTAACCAAAAGCTCACTGACTCAGCCTGTCTGAGACTTTTATCAAAAAAGAATTTTGCTCAACTAGCAAGCACATGAGTGCCAAGAATCCAACAGAGCTGCTGCTGAGTGACAGGTGCCACAGGGCCACCTGCAGGCCACCACCAATCCGTCAGTGGGATTGCGATAGAATATCAGTAATCATCAATTATGAGCGGTCCAACTCTGGCTCCCAAAGATAGTTGAGAAACAGGGATTCAAGTGCCCTTGTGGCCTGGACTCATTTGAGACCCAAGTGACAAGCAGGTGCTATTCACCTCATTCAGTTCAGTGACAAAATCCACAGGTAAGTATATGCGCTCCACCATGGAAGCCCCCAGAGAAGCCCTGGCACTGGCACTGACGGCACCAGCCTCTCATCAATAACCCGGCCTGGCGTCCTGTGTGGGCCAAGGGGAATGTGTCCACCCGTCAGTGGCCACTGACATTTAATCACTCTACAAAGGCCTAGAGCTGGGAAAGGATAATGGAGGGGTGAATAGGGGCCTAAGGAATGAACGTGTCGTTCACCACTCCCGGCCATGGAGTGTTACTTCCAATTTATCCAAACGTTTAAGAGTCCTCTTTCTGGATGCCGCTAGGGAATGGCACACAGCCGCCTGCAGGCCAGCTGGGGATTCAGACTCATTCTCTTATCAGTCTGGCCAATCTCATCAGGAATGTAGCTTGATGGCCCCTAATATGCCCCAGACAAACAGCTTATTCCCCTGGGGTTTGGGCAGTGTGACCGGCAGGCCTCACCACCCGCTTCCAAGGATGGGGGGCATGGAGGGCTCCCTACACTCTCGCTTGTGGTCAGCGACAGTGCTGAAAGCAACTCCAGCTAAGTGTGTCTCCAGGGCCCACGCAGGGCGTGAGGACACAGCCGCAGCCTAAGGGTCCCCTCTGCCCATCACCAGCAGGCTCTGCTCAGCAGGATATACCCAGGCACATGCCCATCCCTGGGGTTCAGCAGGTCCTCGACCACAGCAGCCTCCCTCAACAGCCCAGGTCAGGCCACCCCAACCCCCGGCTCAGGGTGACTCACTGCGGCCAGCTTGTCAAAGCGGGCGAAGAGCTCGTTGAGGGTCATGACCAGTTCCTGTGCAGTGCACTGGGACGCCAGGCTGGTGAAGCCCTCCATGTCAGCAAACAGGATGCTGGGGGACAGGCAGAGGAGGAAGACCCTGCTATAGGCTGAATCTTTGTGTCTCCCAAATTCATACATTACATCTTTTTTTTCTTTTCTTTTTTTTTAAGAAGAGGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGTGTGATCAAGGCTCACTGCAGCCTCGACTTCTTGGGCTCAGGGGATCCTCTCCCCTCAGCCTCCCAAGTAGCTGGGACTACAAGAGTTTGCCACCCTACCTGGCTAACTTTTTTTTTTTTTTTGGGTAGAGACAGGGTCTCGCTATGTTGTCCAGGCAGGTCTCAAACTCCTGGGCTCAAGCAATCCACCCACCTTGGCCTCACAAAGTGCTGGGATTACAGCCACGAGCCACCACACCTGGTTCCATTAAATCCTAATGCCCAATGTGATGGTATTAGGTGGGGCCTTTGAAAGATAATGAGGTCACAAGGGTGGAGCCCTCACGAATGGATTAGTGCCCTTATAAGAAGAGACAAGAGAGCTTGCTTCTTTGCTTTCTGCTCACCACTTCGTGACGATATGAGAAGGTGGCCGTCAGCAACCCAAAAGAGGGCCCTTGCCAGACTCTGATCATGCTGGCACCCTGATCCCAGACTTCCAGCCTCCAGAACCGTGAGAAATACACTGCTGTTGTCTGTAAGCCCCCGTTCTTTGGTATTCTCTTAGAGCAGCCTGAACAGACCAAGACAGACTTCCATGAGGGAGGAGAGGCAGGGCTTATGGCCAGGGCCCGGCCTGGAGCTCCCTGGGCCTGAGAGGGCTGCCAGCCAGCAAGAGTGCTGGGGGCTCCACGCGGCTGCTGGGCAGGGGACAAAGGCCCTGGCACTGGAGGGCCGAGGACGCTGCCTCTTTCTGCTGCTATCCTCCTTCTGTGCTCTAACGGCACCCTCCCCCAGCCCAGGAGGAAGGCAGGGGAGGGGCGTGAGGCCTGGGTGTGTGCCTCAGGAGGGTGCGGGACAGGGGGCCAGGCCCCAACTCCCAGTCATCTCTCAGGCCTGCCCGTTTGACCTCTGAGCACACCTCGAGGGCACTGGGCCTGCTCCTGGGGAAGAGAAGCCTTTTATACCTCTGCTCTGGAAGGCATTTCAGGCCAGAATGATGGCCCTGCAAACTCTGACTTCCCAATCCCACACAGAAAGGACTCTAGCCCCAAGCCCTCCATCCTGAGGGAGTCCTCTATCCCCTACAAGAAACACAGTAAAAGAGACCCAGGGAGGAGAAAGGAAGACACAGCCCGTCAGCGTCCCTGGAAGCCCCCAATTCCTCCTTCCCAGTTCCTCAGTGCACCAGCTGGTGATAGATCTTTCACCCGTCCCTGTGGCTTGTGTTCCCTAAGTTGAAAACATTTTCTTTTTCCTTTGAAATGGGAAGGGAAGTCCCCAGGACCAGAATCTGTAAGGGCCCCTGAATTTATTTTTCTTAAAAGGGACACAAAAATCTAAAAACTCTCATGTACTGAGATGCTCCTGGCAGCCAGGAGCTAAGCGGGAGGCTTCCAACATGTCATCTCACTGAGTCCGCGCAAAAGCCCTGCAAGTGAGGGGTCAGTGTCCCCATTTCACAGACGGGAGCCAAGTCTCAGAGCAGCCAGAGACAGCGGCGTGGCAGGATTCTTCCTCCAAGGTCTGTGCTCCTTCCCAGGCACCTCGGGACTCCTAAGGCTCCAGAACCATGTTTCAGTTTTAAAATTGATGTTGAACTAAACATATTTTGTCCTTTTATTCTAAAAATGTGTATTGGTACATTAAGCATGTCTTTTTAAATCAAATATTGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTTAAGTGGGCGGACCACTTGAGGTCAGGTGTTCGAGCCCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAGATACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCTCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACTCTGGAGACGGAGGTTGCAGTGAGCCGAGACAGTGCCACTGCAC
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Task1_train_7461
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A sequence alteration has been identified in ADCY5 (adenylate cyclase 5) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant
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GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAAATATTTTCTCCCCTAAATCCCTGTGGATTTGGTGGAATGCCCAGACTGGCCCGGGCAGAGCAAGGAAACTGTGGCAAGCTGTAAAATGGTAATTCCCCTGGAGAAGTGAGAGGCACAGCCCCAAAAATGGAAGGAGGAGGTATCCTGATCTCAGGTGAGAGATGCTGAGGCCTGGAATGGGGATGATGAGGGGCTTTTCAGGAATGCTGAGGCCTGGGGGTGAGTGTGGTGCAGTGTGCCAGAGGCGAGGTACATGTGTTAATAAAGGGCAGTGGGAGGACCCCAGGGACCCTGCCAGCAAGGGCTTCCTTCAAGATGCTGGACCAGAAGCTCAGACAGGGCCAGAGTGAATGGGGAGAGCCAGGCTGGGGACTGGTCAGCTTAAGTGGAGACCTGACAAGACATGGCGACCACCGAGGCAGCGCTGGAAGGGAAGTGGAGACAGGTGGGGACTGGGGGGCCTGGAGAGGTACTACAGAGCTTTGCCCCCTCGTTTGGCTGTCTGGATGTCACCAGCCATATCACTGTGACTCACTTAGGATGCAACCAGATGGCATCAAGGACACCCCCCACAGTACTAAAACATTCTGCACTCAGGGTGGCCACAGCATGTGCTCCGTGCCAGCCTGGAGCCATGAGTGACCACTGCCATCTTGGCCATTTCTCCGTGTCCCCCACACTCAAAGGCAGACCTTCCATGTTCATATCAGCCATGGGGGCTGACGCAGCATGCGGCACTTAGATGAGCTCCACTGATGCTTGCTGAGGGTCTGGGGAGATGGTAATCTAAGATGGGAGGGAAGGCCTCCGGTTTGGAGCAACCTTATCTCACAGGAGCTAGTGGGAGCCCCATCACCCTGCAGACCCGCCCACTCTCTCCCCTAGGCCACACAGCCCCCCAGGCCTCCCATGTGTGAGCCATGACTCAGAGTCACCAGACCCCTACCTGATTCACACACAGAAGAGGAGACAGTGGGGATCCAGACCTGGAATCCAAACAGGACTCCGCCCCCAAAGAGGGAAGGGCTGGACCCCTGATGTGGCCCTCAGCCCTGCTCCCACCCCACCCAAGAGTGGTGCACACAGGGCAGGTCCCTCTTTGCACCAGGAATCTGTGGCCCTGGGAATGGCCTGCCTTCCCTGACCCAGGCAGTCGGTCTAGGAAGAGATGGGACTTTCTTCCTTCTCAGAACCACCAAACCCCAGAACTCAGAGAGGGGAATAGCCAGGTGTGGGGTGTTTCAGGGGATGACAGCTCCTGTCTCCTCTTCTTCTCCCTCATCCCTCCCCTGCGGAGCACCTTAATCCCAGTTAGGAATGCTGGCTTCTCTCCTTACTCCAACTCAAGGCGGGGTGCAGTGCGGGGAGGGAGTGGTGAGCAGTGTGGGGAAGGAGTGGGGGCCGTGTGGGGAGGGAGAGAGGGACCCTCTGGCTGCTGGGCTTGTTTGCAAACCACAGGGACGCCACATGGCTATGGGCACCAGGCCTTGGGCACGGGCTGGGTAGAACTCACTTCCCACAGGGCCTGGAATGCTGGACTCTCTCCAGGGGAAACATTCCCCATGGGTTGGTCCCCTCCCGGGGAGTGGGGCTGGCAGCCGTAATAAGCACTGCCCGCCCTAGGCCAGGCACTCAGCTGAGGTACATCTCAGGGCTCGACTCCGTCCCACTGTGCAAGGGCAGGGGCCTCACTCACCTGCTGCTGGTTCTCCCGCTGCGAGTGGAGCCGCGCCTGGATGCACTCTCGGGTCTCCTGGAAAGCCTGTCTCTGGGAGACCTCAGCCGGATAGTGGGTGCAGACACCCACGATGTTGGTGCAGGAGAAAATGAGAACATTGGAGACAAGCTGCAGAGGGAGAGAGGAGCACACCTAGCTCAGATCCTGACCTTCCTGGCCCCAAAGCATGAAGCCCTCAGCCCCTGTCTCAGCAAACTCACACCTGGCGCTAGCAAACAAATGCTGAGGGCACCCCACACGCGGCCAACCACTGTGAGCAGCCGAGCATAATCGATCGGGCTCTCTGATGTCCTCAAAGCCAGAAGTTTGGCTGGCTTGTCATGGGATATGTCCTCTAAAGACACTGAATCACCTAATAATCATACTAAACATGCCTATAGTACCAGAAATTAAAAGGCTACATGTACTGTGACAGAGCTGTGTGTGTGCTCGGGGCAGGAGGGCCACTGCAAGGAAGGTGCCACAAGGGTGCTGGGATTTCACTTTTGAAAGTGTGATAGAGTCCAGTACAGGACAAGGGGCCACCCTCCCCCAGAGATCAGCTCCGATGAATCAAGGATTCTCGAATCCCCTCAGGTCCCCAGCACTGTGCTAAATGCTCTAGGGAACAAAAGGGCAAGGCTGGCCAGTCGGGGTCCATGGCCACAGTGGGTCTCCACTCCTTCCTCCCTAGGCTTCTGGTCTTTCTGTTGCCAGCTCTCTGACAACCACTGCACCAGCCGGCCAGTGCCTGCCATTTCCCCCGCTCCCCAACAACTGAGATGTGTGTGTGGAAAAACACCACTGACCCTCCAGGTCAGCAAAGTCAAAGCTGGAATTCTTTTGAAGGGAATACTTACTGAAAAGCTAAGGGAAAATGAAACACAATACAACACGACACGGAAAGCAAGGTTATACGGTACATTCAGATCCCAGTGAGTGATGTGTAGGCAAAATTTCTCTTGGCAGGTAGAGCTCCTGGATATCTGAGTACATGGGTCCTGTTGTTGTCCTTGACTTGGGGCCACATGGAACAGAGCCACACAATGATGCTCCGGCTCCTAGGCTGTGGGGGCTTTGAGCTGCACCTCAGTTACTCCCACCAAAAACTTCCTTAGTCCCAGCTCCAGAAAAGGAGCCTGGGTCAGCCGCTGCACCTTCTGCTGTGGCTCCCTTAGCCCTCAGGAGGCCTGTGTTAGTCCCAAGTCCTGGGGTAAGGAGGGCACTTGGCCATTTGGATCCCAAAGAGTCTTGCTGTGGGACGTCGGCTGCCTGGCAGTGGCCCTGGCAGATGACTCCTACGCTCTTCTCTAGGGGCCTCTTGGCTCTCGACTCAGGTCTGCTTTCTACCAGAAGGCTTTGCCCACCACAGCTTTGCGATGGTCCTGCTCTTGCTCCTTGCTGAATGTGGTACCATCTTTCCCTGGAGACATCCCATGGTGTGTGTGCCCCGGTCCATGAAGACTTTCTCTTTCCTATTTCAGGCTCTCACTCCCTCCTGGCTGAAGAATGCCCTGAGCTCCCCATGTGTCTCCTGGATGTGCCTTCCAGGAAGGGGCAAGTTCAGATTTCTAGCTCCACTGACTCAGACGACTACTGTTGCTGACTCATAACTCCCATATCCTTCCACTCCAACCCCATCTACGCTAGCATCCCATTGCTGTCATTTTATGTAAACACATGGCATAGGAAAAGCCAACCTATTTATCATAAGGAAAGACCCCTGCTCTTCAGAAACTTACAATCTACTTGAAGAGTGTTATAGATGGAATGTTTGTGTCCCCCAAAAGGACTGCTGAACCAAAGAATGGCTGCTTGAGCCCACGGCTTCTGGAAGATTCATCAGAGGCAAGAGTGCAGGAATGGGAGACGGGTCCAGATGCTGCCACAGAAGCCCAAAGCATGAGGGAACAAAGACCTGCGTGTGGCTGGGAGCCATTCAGGGCAGAGCTGACTCAGAAGGAAGAGCCCCTAAGACCAGGGAGAAGAAAGTCCAGGAAGAAATAGACCATGGCCTGAAGTAGTAACCAATGCTGTGATTATGAAGTGAGACCCCAA
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GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAAATATTTTCTCCCCTAAATCCCTGTGGATTTGGTGGAATGCCCAGACTGGCCCGGGCAGAGCAAGGAAACTGTGGCAAGCTGTAAAATGGTAATTCCCCTGGAGAAGTGAGAGGCACAGCCCCAAAAATGGAAGGAGGAGGTATCCTGATCTCAGGTGAGAGATGCTGAGGCCTGGAATGGGGATGATGAGGGGCTTTTCAGGAATGCTGAGGCCTGGGGGTGAGTGTGGTGCAGTGTGCCAGAGGCGAGGTACATGTGTTAATAAAGGGCAGTGGGAGGACCCCAGGGACCCTGCCAGCAAGGGCTTCCTTCAAGATGCTGGACCAGAAGCTCAGACAGGGCCAGAGTGAATGGGGAGAGCCAGGCTGGGGACTGGTCAGCTTAAGTGGAGACCTGACAAGACATGGCGACCACCGAGGCAGCGCTGGAAGGGAAGTGGAGACAGGTGGGGACTGGGGGGCCTGGAGAGGTACTACAGAGCTTTGCCCCCTCGTTTGGCTGTCTGGATGTCACCAGCCATATCACTGTGACTCACTTAGGATGCAACCAGATGGCATCAAGGACACCCCCCACAGTACTAAAACATTCTGCACTCAGGGTGGCCACAGCATGTGCTCCGTGCCAGCCTGGAGCCATGAGTGACCACTGCCATCTTGGCCATTTCTCCGTGTCCCCCACACTCAAAGGCAGACCTTCCATGTTCATATCAGCCATGGGGGCTGACGCAGCATGCGGCACTTAGATGAGCTCCACTGATGCTTGCTGAGGGTCTGGGGAGATGGTAATCTAAGATGGGAGGGAAGGCCTCCGGTTTGGAGCAACCTTATCTCACAGGAGCTAGTGGGAGCCCCATCACCCTGCAGACCCGCCCACTCTCTCCCCTAGGCCACACAGCCCCCCAGGCCTCCCATGTGTGAGCCATGACTCAGAGTCACCAGACCCCTACCTGATTCACACACAGAAGAGGAGACAGTGGGGATCCAGACCTGGAATCCAAACAGGACTCCGCCCCCAAAGAGGGAAGGGCTGGACCCCTGATGTGGCCCTCAGCCCTGCTCCCACCCCACCCAAGAGTGGTGCACACAGGGCAGGTCCCTCTTTGCACCAGGAATCTGTGGCCCTGGGAATGGCCTGCCTTCCCTGACCCAGGCAGTCGGTCTAGGAAGAGATGGGACTTTCTTCCTTCTCAGAACCACCAAACCCCAGAACTCAGAGAGGGGAATAGCCAGGTGTGGGGTGTTTCAGGGGATGACAGCTCCTGTCTCCTCTTCTTCTCCCTCATCCCTCCCCTGCGGAGCACCTTAATCCCAGTTAGGAATGCTGGCTTCTCTCCTTACTCCAACTCAAGGCGGGGTGCAGTGCGGGGAGGGAGTGGTGAGCAGTGTGGGGAAGGAGTGGGGGCCGTGTGGGGAGGGAGAGAGGGACCCTCTGGCTGCTGGGCTTGTTTGCAAACCACAGGGACGCCACATGGCTATGGGCACCAGGCCTTGGGCACGGGCTGGGTAGAACTCACTTCCCACAGGGCCTGGAATGCTGGACTCTCTCCAGGGGAAACATTCCCCATGGGTTGGTCCCCTCCCGGGGAGTGGGGCTGGCAGCCGTAATAAGCACTGCCCGCCCTAGGCCAGGCACTCAGCTGAGGTACATCTCAGGGCTCGACTCCGTCCCACTGTGCAAGGGCAGGGGCCTCACTCACCTGCTGCTGGTTCTCCCGCTGCGAGTGGAGCTGCGCCTGGATGCACTCTCGGGTCTCCTGGAAAGCCTGTCTCTGGGAGACCTCAGCCGGATAGTGGGTGCAGACACCCACGATGTTGGTGCAGGAGAAAATGAGAACATTGGAGACAAGCTGCAGAGGGAGAGAGGAGCACACCTAGCTCAGATCCTGACCTTCCTGGCCCCAAAGCATGAAGCCCTCAGCCCCTGTCTCAGCAAACTCACACCTGGCGCTAGCAAACAAATGCTGAGGGCACCCCACACGCGGCCAACCACTGTGAGCAGCCGAGCATAATCGATCGGGCTCTCTGATGTCCTCAAAGCCAGAAGTTTGGCTGGCTTGTCATGGGATATGTCCTCTAAAGACACTGAATCACCTAATAATCATACTAAACATGCCTATAGTACCAGAAATTAAAAGGCTACATGTACTGTGACAGAGCTGTGTGTGTGCTCGGGGCAGGAGGGCCACTGCAAGGAAGGTGCCACAAGGGTGCTGGGATTTCACTTTTGAAAGTGTGATAGAGTCCAGTACAGGACAAGGGGCCACCCTCCCCCAGAGATCAGCTCCGATGAATCAAGGATTCTCGAATCCCCTCAGGTCCCCAGCACTGTGCTAAATGCTCTAGGGAACAAAAGGGCAAGGCTGGCCAGTCGGGGTCCATGGCCACAGTGGGTCTCCACTCCTTCCTCCCTAGGCTTCTGGTCTTTCTGTTGCCAGCTCTCTGACAACCACTGCACCAGCCGGCCAGTGCCTGCCATTTCCCCCGCTCCCCAACAACTGAGATGTGTGTGTGGAAAAACACCACTGACCCTCCAGGTCAGCAAAGTCAAAGCTGGAATTCTTTTGAAGGGAATACTTACTGAAAAGCTAAGGGAAAATGAAACACAATACAACACGACACGGAAAGCAAGGTTATACGGTACATTCAGATCCCAGTGAGTGATGTGTAGGCAAAATTTCTCTTGGCAGGTAGAGCTCCTGGATATCTGAGTACATGGGTCCTGTTGTTGTCCTTGACTTGGGGCCACATGGAACAGAGCCACACAATGATGCTCCGGCTCCTAGGCTGTGGGGGCTTTGAGCTGCACCTCAGTTACTCCCACCAAAAACTTCCTTAGTCCCAGCTCCAGAAAAGGAGCCTGGGTCAGCCGCTGCACCTTCTGCTGTGGCTCCCTTAGCCCTCAGGAGGCCTGTGTTAGTCCCAAGTCCTGGGGTAAGGAGGGCACTTGGCCATTTGGATCCCAAAGAGTCTTGCTGTGGGACGTCGGCTGCCTGGCAGTGGCCCTGGCAGATGACTCCTACGCTCTTCTCTAGGGGCCTCTTGGCTCTCGACTCAGGTCTGCTTTCTACCAGAAGGCTTTGCCCACCACAGCTTTGCGATGGTCCTGCTCTTGCTCCTTGCTGAATGTGGTACCATCTTTCCCTGGAGACATCCCATGGTGTGTGTGCCCCGGTCCATGAAGACTTTCTCTTTCCTATTTCAGGCTCTCACTCCCTCCTGGCTGAAGAATGCCCTGAGCTCCCCATGTGTCTCCTGGATGTGCCTTCCAGGAAGGGGCAAGTTCAGATTTCTAGCTCCACTGACTCAGACGACTACTGTTGCTGACTCATAACTCCCATATCCTTCCACTCCAACCCCATCTACGCTAGCATCCCATTGCTGTCATTTTATGTAAACACATGGCATAGGAAAAGCCAACCTATTTATCATAAGGAAAGACCCCTGCTCTTCAGAAACTTACAATCTACTTGAAGAGTGTTATAGATGGAATGTTTGTGTCCCCCAAAAGGACTGCTGAACCAAAGAATGGCTGCTTGAGCCCACGGCTTCTGGAAGATTCATCAGAGGCAAGAGTGCAGGAATGGGAGACGGGTCCAGATGCTGCCACAGAAGCCCAAAGCATGAGGGAACAAAGACCTGCGTGTGGCTGGGAGCCATTCAGGGCAGAGCTGACTCAGAAGGAAGAGCCCCTAAGACCAGGGAGAAGAAAGTCCAGGAAGAAATAGACCATGGCCTGAAGTAGTAACCAATGCTGTGATTATGAAGTGAGACCCCAA
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Task1_train_7462
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Assess the clinical impact of this variant on gene ADCY5 (adenylate cyclase 5), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Neurodevelopmental delay
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GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAAATATTTTCTCCCCTAAATCCCTGTGGATTTGGTGGAATGCCCAGACTGGCCCGGGCAGAGCAAGGAAACTGTGGCAAGCTGTAAAATGGTAATTCCCCTGGAGAAGTGAGAGGCACAGCCCCAAAAATGGAAGGAGGAGGTATCCTGATCTCAGGTGAGAGATGCTGAGGCCTGGAATGGGGATGATGAGGGGCTTTTCAGGAATGCTGAGGCCTGGGGGTGAGTGTGGTGCAGTGTGCCAGAGGCGAGGTACATGTGTTAATAAAGGGCAGTGGGAGGACCCCAGGGACCCTGCCAGCAAGGGCTTCCTTCAAGATGCTGGACCAGAAGCTCAGACAGGGCCAGAGTGAATGGGGAGAGCCAGGCTGGGGACTGGTCAGCTTAAGTGGAGACCTGACAAGACATGGCGACCACCGAGGCAGCGCTGGAAGGGAAGTGGAGACAGGTGGGGACTGGGGGGCCTGGAGAGGTACTACAGAGCTTTGCCCCCTCGTTTGGCTGTCTGGATGTCACCAGCCATATCACTGTGACTCACTTAGGATGCAACCAGATGGCATCAAGGACACCCCCCACAGTACTAAAACATTCTGCACTCAGGGTGGCCACAGCATGTGCTCCGTGCCAGCCTGGAGCCATGAGTGACCACTGCCATCTTGGCCATTTCTCCGTGTCCCCCACACTCAAAGGCAGACCTTCCATGTTCATATCAGCCATGGGGGCTGACGCAGCATGCGGCACTTAGATGAGCTCCACTGATGCTTGCTGAGGGTCTGGGGAGATGGTAATCTAAGATGGGAGGGAAGGCCTCCGGTTTGGAGCAACCTTATCTCACAGGAGCTAGTGGGAGCCCCATCACCCTGCAGACCCGCCCACTCTCTCCCCTAGGCCACACAGCCCCCCAGGCCTCCCATGTGTGAGCCATGACTCAGAGTCACCAGACCCCTACCTGATTCACACACAGAAGAGGAGACAGTGGGGATCCAGACCTGGAATCCAAACAGGACTCCGCCCCCAAAGAGGGAAGGGCTGGACCCCTGATGTGGCCCTCAGCCCTGCTCCCACCCCACCCAAGAGTGGTGCACACAGGGCAGGTCCCTCTTTGCACCAGGAATCTGTGGCCCTGGGAATGGCCTGCCTTCCCTGACCCAGGCAGTCGGTCTAGGAAGAGATGGGACTTTCTTCCTTCTCAGAACCACCAAACCCCAGAACTCAGAGAGGGGAATAGCCAGGTGTGGGGTGTTTCAGGGGATGACAGCTCCTGTCTCCTCTTCTTCTCCCTCATCCCTCCCCTGCGGAGCACCTTAATCCCAGTTAGGAATGCTGGCTTCTCTCCTTACTCCAACTCAAGGCGGGGTGCAGTGCGGGGAGGGAGTGGTGAGCAGTGTGGGGAAGGAGTGGGGGCCGTGTGGGGAGGGAGAGAGGGACCCTCTGGCTGCTGGGCTTGTTTGCAAACCACAGGGACGCCACATGGCTATGGGCACCAGGCCTTGGGCACGGGCTGGGTAGAACTCACTTCCCACAGGGCCTGGAATGCTGGACTCTCTCCAGGGGAAACATTCCCCATGGGTTGGTCCCCTCCCGGGGAGTGGGGCTGGCAGCCGTAATAAGCACTGCCCGCCCTAGGCCAGGCACTCAGCTGAGGTACATCTCAGGGCTCGACTCCGTCCCACTGTGCAAGGGCAGGGGCCTCACTCACCTGCTGCTGGTTCTCCCGCTGCGAGTGGAGCCGCGCCTGGATGCACTCTCGGGTCTCCTGGAAAGCCTGTCTCTGGGAGACCTCAGCCGGATAGTGGGTGCAGACACCCACGATGTTGGTGCAGGAGAAAATGAGAACATTGGAGACAAGCTGCAGAGGGAGAGAGGAGCACACCTAGCTCAGATCCTGACCTTCCTGGCCCCAAAGCATGAAGCCCTCAGCCCCTGTCTCAGCAAACTCACACCTGGCGCTAGCAAACAAATGCTGAGGGCACCCCACACGCGGCCAACCACTGTGAGCAGCCGAGCATAATCGATCGGGCTCTCTGATGTCCTCAAAGCCAGAAGTTTGGCTGGCTTGTCATGGGATATGTCCTCTAAAGACACTGAATCACCTAATAATCATACTAAACATGCCTATAGTACCAGAAATTAAAAGGCTACATGTACTGTGACAGAGCTGTGTGTGTGCTCGGGGCAGGAGGGCCACTGCAAGGAAGGTGCCACAAGGGTGCTGGGATTTCACTTTTGAAAGTGTGATAGAGTCCAGTACAGGACAAGGGGCCACCCTCCCCCAGAGATCAGCTCCGATGAATCAAGGATTCTCGAATCCCCTCAGGTCCCCAGCACTGTGCTAAATGCTCTAGGGAACAAAAGGGCAAGGCTGGCCAGTCGGGGTCCATGGCCACAGTGGGTCTCCACTCCTTCCTCCCTAGGCTTCTGGTCTTTCTGTTGCCAGCTCTCTGACAACCACTGCACCAGCCGGCCAGTGCCTGCCATTTCCCCCGCTCCCCAACAACTGAGATGTGTGTGTGGAAAAACACCACTGACCCTCCAGGTCAGCAAAGTCAAAGCTGGAATTCTTTTGAAGGGAATACTTACTGAAAAGCTAAGGGAAAATGAAACACAATACAACACGACACGGAAAGCAAGGTTATACGGTACATTCAGATCCCAGTGAGTGATGTGTAGGCAAAATTTCTCTTGGCAGGTAGAGCTCCTGGATATCTGAGTACATGGGTCCTGTTGTTGTCCTTGACTTGGGGCCACATGGAACAGAGCCACACAATGATGCTCCGGCTCCTAGGCTGTGGGGGCTTTGAGCTGCACCTCAGTTACTCCCACCAAAAACTTCCTTAGTCCCAGCTCCAGAAAAGGAGCCTGGGTCAGCCGCTGCACCTTCTGCTGTGGCTCCCTTAGCCCTCAGGAGGCCTGTGTTAGTCCCAAGTCCTGGGGTAAGGAGGGCACTTGGCCATTTGGATCCCAAAGAGTCTTGCTGTGGGACGTCGGCTGCCTGGCAGTGGCCCTGGCAGATGACTCCTACGCTCTTCTCTAGGGGCCTCTTGGCTCTCGACTCAGGTCTGCTTTCTACCAGAAGGCTTTGCCCACCACAGCTTTGCGATGGTCCTGCTCTTGCTCCTTGCTGAATGTGGTACCATCTTTCCCTGGAGACATCCCATGGTGTGTGTGCCCCGGTCCATGAAGACTTTCTCTTTCCTATTTCAGGCTCTCACTCCCTCCTGGCTGAAGAATGCCCTGAGCTCCCCATGTGTCTCCTGGATGTGCCTTCCAGGAAGGGGCAAGTTCAGATTTCTAGCTCCACTGACTCAGACGACTACTGTTGCTGACTCATAACTCCCATATCCTTCCACTCCAACCCCATCTACGCTAGCATCCCATTGCTGTCATTTTATGTAAACACATGGCATAGGAAAAGCCAACCTATTTATCATAAGGAAAGACCCCTGCTCTTCAGAAACTTACAATCTACTTGAAGAGTGTTATAGATGGAATGTTTGTGTCCCCCAAAAGGACTGCTGAACCAAAGAATGGCTGCTTGAGCCCACGGCTTCTGGAAGATTCATCAGAGGCAAGAGTGCAGGAATGGGAGACGGGTCCAGATGCTGCCACAGAAGCCCAAAGCATGAGGGAACAAAGACCTGCGTGTGGCTGGGAGCCATTCAGGGCAGAGCTGACTCAGAAGGAAGAGCCCCTAAGACCAGGGAGAAGAAAGTCCAGGAAGAAATAGACCATGGCCTGAAGTAGTAACCAATGCTGTGATTATGAAGTGAGACCCCAA
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GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAAATATTTTCTCCCCTAAATCCCTGTGGATTTGGTGGAATGCCCAGACTGGCCCGGGCAGAGCAAGGAAACTGTGGCAAGCTGTAAAATGGTAATTCCCCTGGAGAAGTGAGAGGCACAGCCCCAAAAATGGAAGGAGGAGGTATCCTGATCTCAGGTGAGAGATGCTGAGGCCTGGAATGGGGATGATGAGGGGCTTTTCAGGAATGCTGAGGCCTGGGGGTGAGTGTGGTGCAGTGTGCCAGAGGCGAGGTACATGTGTTAATAAAGGGCAGTGGGAGGACCCCAGGGACCCTGCCAGCAAGGGCTTCCTTCAAGATGCTGGACCAGAAGCTCAGACAGGGCCAGAGTGAATGGGGAGAGCCAGGCTGGGGACTGGTCAGCTTAAGTGGAGACCTGACAAGACATGGCGACCACCGAGGCAGCGCTGGAAGGGAAGTGGAGACAGGTGGGGACTGGGGGGCCTGGAGAGGTACTACAGAGCTTTGCCCCCTCGTTTGGCTGTCTGGATGTCACCAGCCATATCACTGTGACTCACTTAGGATGCAACCAGATGGCATCAAGGACACCCCCCACAGTACTAAAACATTCTGCACTCAGGGTGGCCACAGCATGTGCTCCGTGCCAGCCTGGAGCCATGAGTGACCACTGCCATCTTGGCCATTTCTCCGTGTCCCCCACACTCAAAGGCAGACCTTCCATGTTCATATCAGCCATGGGGGCTGACGCAGCATGCGGCACTTAGATGAGCTCCACTGATGCTTGCTGAGGGTCTGGGGAGATGGTAATCTAAGATGGGAGGGAAGGCCTCCGGTTTGGAGCAACCTTATCTCACAGGAGCTAGTGGGAGCCCCATCACCCTGCAGACCCGCCCACTCTCTCCCCTAGGCCACACAGCCCCCCAGGCCTCCCATGTGTGAGCCATGACTCAGAGTCACCAGACCCCTACCTGATTCACACACAGAAGAGGAGACAGTGGGGATCCAGACCTGGAATCCAAACAGGACTCCGCCCCCAAAGAGGGAAGGGCTGGACCCCTGATGTGGCCCTCAGCCCTGCTCCCACCCCACCCAAGAGTGGTGCACACAGGGCAGGTCCCTCTTTGCACCAGGAATCTGTGGCCCTGGGAATGGCCTGCCTTCCCTGACCCAGGCAGTCGGTCTAGGAAGAGATGGGACTTTCTTCCTTCTCAGAACCACCAAACCCCAGAACTCAGAGAGGGGAATAGCCAGGTGTGGGGTGTTTCAGGGGATGACAGCTCCTGTCTCCTCTTCTTCTCCCTCATCCCTCCCCTGCGGAGCACCTTAATCCCAGTTAGGAATGCTGGCTTCTCTCCTTACTCCAACTCAAGGCGGGGTGCAGTGCGGGGAGGGAGTGGTGAGCAGTGTGGGGAAGGAGTGGGGGCCGTGTGGGGAGGGAGAGAGGGACCCTCTGGCTGCTGGGCTTGTTTGCAAACCACAGGGACGCCACATGGCTATGGGCACCAGGCCTTGGGCACGGGCTGGGTAGAACTCACTTCCCACAGGGCCTGGAATGCTGGACTCTCTCCAGGGGAAACATTCCCCATGGGTTGGTCCCCTCCCGGGGAGTGGGGCTGGCAGCCGTAATAAGCACTGCCCGCCCTAGGCCAGGCACTCAGCTGAGGTACATCTCAGGGCTCGACTCCGTCCCACTGTGCAAGGGCAGGGGCCTCACTCACCTGCTGCTGGTTCTCCCGCTGCGAGTGGAGCTGCGCCTGGATGCACTCTCGGGTCTCCTGGAAAGCCTGTCTCTGGGAGACCTCAGCCGGATAGTGGGTGCAGACACCCACGATGTTGGTGCAGGAGAAAATGAGAACATTGGAGACAAGCTGCAGAGGGAGAGAGGAGCACACCTAGCTCAGATCCTGACCTTCCTGGCCCCAAAGCATGAAGCCCTCAGCCCCTGTCTCAGCAAACTCACACCTGGCGCTAGCAAACAAATGCTGAGGGCACCCCACACGCGGCCAACCACTGTGAGCAGCCGAGCATAATCGATCGGGCTCTCTGATGTCCTCAAAGCCAGAAGTTTGGCTGGCTTGTCATGGGATATGTCCTCTAAAGACACTGAATCACCTAATAATCATACTAAACATGCCTATAGTACCAGAAATTAAAAGGCTACATGTACTGTGACAGAGCTGTGTGTGTGCTCGGGGCAGGAGGGCCACTGCAAGGAAGGTGCCACAAGGGTGCTGGGATTTCACTTTTGAAAGTGTGATAGAGTCCAGTACAGGACAAGGGGCCACCCTCCCCCAGAGATCAGCTCCGATGAATCAAGGATTCTCGAATCCCCTCAGGTCCCCAGCACTGTGCTAAATGCTCTAGGGAACAAAAGGGCAAGGCTGGCCAGTCGGGGTCCATGGCCACAGTGGGTCTCCACTCCTTCCTCCCTAGGCTTCTGGTCTTTCTGTTGCCAGCTCTCTGACAACCACTGCACCAGCCGGCCAGTGCCTGCCATTTCCCCCGCTCCCCAACAACTGAGATGTGTGTGTGGAAAAACACCACTGACCCTCCAGGTCAGCAAAGTCAAAGCTGGAATTCTTTTGAAGGGAATACTTACTGAAAAGCTAAGGGAAAATGAAACACAATACAACACGACACGGAAAGCAAGGTTATACGGTACATTCAGATCCCAGTGAGTGATGTGTAGGCAAAATTTCTCTTGGCAGGTAGAGCTCCTGGATATCTGAGTACATGGGTCCTGTTGTTGTCCTTGACTTGGGGCCACATGGAACAGAGCCACACAATGATGCTCCGGCTCCTAGGCTGTGGGGGCTTTGAGCTGCACCTCAGTTACTCCCACCAAAAACTTCCTTAGTCCCAGCTCCAGAAAAGGAGCCTGGGTCAGCCGCTGCACCTTCTGCTGTGGCTCCCTTAGCCCTCAGGAGGCCTGTGTTAGTCCCAAGTCCTGGGGTAAGGAGGGCACTTGGCCATTTGGATCCCAAAGAGTCTTGCTGTGGGACGTCGGCTGCCTGGCAGTGGCCCTGGCAGATGACTCCTACGCTCTTCTCTAGGGGCCTCTTGGCTCTCGACTCAGGTCTGCTTTCTACCAGAAGGCTTTGCCCACCACAGCTTTGCGATGGTCCTGCTCTTGCTCCTTGCTGAATGTGGTACCATCTTTCCCTGGAGACATCCCATGGTGTGTGTGCCCCGGTCCATGAAGACTTTCTCTTTCCTATTTCAGGCTCTCACTCCCTCCTGGCTGAAGAATGCCCTGAGCTCCCCATGTGTCTCCTGGATGTGCCTTCCAGGAAGGGGCAAGTTCAGATTTCTAGCTCCACTGACTCAGACGACTACTGTTGCTGACTCATAACTCCCATATCCTTCCACTCCAACCCCATCTACGCTAGCATCCCATTGCTGTCATTTTATGTAAACACATGGCATAGGAAAAGCCAACCTATTTATCATAAGGAAAGACCCCTGCTCTTCAGAAACTTACAATCTACTTGAAGAGTGTTATAGATGGAATGTTTGTGTCCCCCAAAAGGACTGCTGAACCAAAGAATGGCTGCTTGAGCCCACGGCTTCTGGAAGATTCATCAGAGGCAAGAGTGCAGGAATGGGAGACGGGTCCAGATGCTGCCACAGAAGCCCAAAGCATGAGGGAACAAAGACCTGCGTGTGGCTGGGAGCCATTCAGGGCAGAGCTGACTCAGAAGGAAGAGCCCCTAAGACCAGGGAGAAGAAAGTCCAGGAAGAAATAGACCATGGCCTGAAGTAGTAACCAATGCTGTGATTATGAAGTGAGACCCCAA
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Task1_train_7463
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This mutation occurs in ADCY5 (adenylate cyclase 5) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; See cases
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GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAAATATTTTCTCCCCTAAATCCCTGTGGATTTGGTGGAATGCCCAGACTGGCCCGGGCAGAGCAAGGAAACTGTGGCAAGCTGTAAAATGGTAATTCCCCTGGAGAAGTGAGAGGCACAGCCCCAAAAATGGAAGGAGGAGGTATCCTGATCTCAGGTGAGAGATGCTGAGGCCTGGAATGGGGATGATGAGGGGCTTTTCAGGAATGCTGAGGCCTGGGGGTGAGTGTGGTGCAGTGTGCCAGAGGCGAGGTACATGTGTTAATAAAGGGCAGTGGGAGGACCCCAGGGACCCTGCCAGCAAGGGCTTCCTTCAAGATGCTGGACCAGAAGCTCAGACAGGGCCAGAGTGAATGGGGAGAGCCAGGCTGGGGACTGGTCAGCTTAAGTGGAGACCTGACAAGACATGGCGACCACCGAGGCAGCGCTGGAAGGGAAGTGGAGACAGGTGGGGACTGGGGGGCCTGGAGAGGTACTACAGAGCTTTGCCCCCTCGTTTGGCTGTCTGGATGTCACCAGCCATATCACTGTGACTCACTTAGGATGCAACCAGATGGCATCAAGGACACCCCCCACAGTACTAAAACATTCTGCACTCAGGGTGGCCACAGCATGTGCTCCGTGCCAGCCTGGAGCCATGAGTGACCACTGCCATCTTGGCCATTTCTCCGTGTCCCCCACACTCAAAGGCAGACCTTCCATGTTCATATCAGCCATGGGGGCTGACGCAGCATGCGGCACTTAGATGAGCTCCACTGATGCTTGCTGAGGGTCTGGGGAGATGGTAATCTAAGATGGGAGGGAAGGCCTCCGGTTTGGAGCAACCTTATCTCACAGGAGCTAGTGGGAGCCCCATCACCCTGCAGACCCGCCCACTCTCTCCCCTAGGCCACACAGCCCCCCAGGCCTCCCATGTGTGAGCCATGACTCAGAGTCACCAGACCCCTACCTGATTCACACACAGAAGAGGAGACAGTGGGGATCCAGACCTGGAATCCAAACAGGACTCCGCCCCCAAAGAGGGAAGGGCTGGACCCCTGATGTGGCCCTCAGCCCTGCTCCCACCCCACCCAAGAGTGGTGCACACAGGGCAGGTCCCTCTTTGCACCAGGAATCTGTGGCCCTGGGAATGGCCTGCCTTCCCTGACCCAGGCAGTCGGTCTAGGAAGAGATGGGACTTTCTTCCTTCTCAGAACCACCAAACCCCAGAACTCAGAGAGGGGAATAGCCAGGTGTGGGGTGTTTCAGGGGATGACAGCTCCTGTCTCCTCTTCTTCTCCCTCATCCCTCCCCTGCGGAGCACCTTAATCCCAGTTAGGAATGCTGGCTTCTCTCCTTACTCCAACTCAAGGCGGGGTGCAGTGCGGGGAGGGAGTGGTGAGCAGTGTGGGGAAGGAGTGGGGGCCGTGTGGGGAGGGAGAGAGGGACCCTCTGGCTGCTGGGCTTGTTTGCAAACCACAGGGACGCCACATGGCTATGGGCACCAGGCCTTGGGCACGGGCTGGGTAGAACTCACTTCCCACAGGGCCTGGAATGCTGGACTCTCTCCAGGGGAAACATTCCCCATGGGTTGGTCCCCTCCCGGGGAGTGGGGCTGGCAGCCGTAATAAGCACTGCCCGCCCTAGGCCAGGCACTCAGCTGAGGTACATCTCAGGGCTCGACTCCGTCCCACTGTGCAAGGGCAGGGGCCTCACTCACCTGCTGCTGGTTCTCCCGCTGCGAGTGGAGCCGCGCCTGGATGCACTCTCGGGTCTCCTGGAAAGCCTGTCTCTGGGAGACCTCAGCCGGATAGTGGGTGCAGACACCCACGATGTTGGTGCAGGAGAAAATGAGAACATTGGAGACAAGCTGCAGAGGGAGAGAGGAGCACACCTAGCTCAGATCCTGACCTTCCTGGCCCCAAAGCATGAAGCCCTCAGCCCCTGTCTCAGCAAACTCACACCTGGCGCTAGCAAACAAATGCTGAGGGCACCCCACACGCGGCCAACCACTGTGAGCAGCCGAGCATAATCGATCGGGCTCTCTGATGTCCTCAAAGCCAGAAGTTTGGCTGGCTTGTCATGGGATATGTCCTCTAAAGACACTGAATCACCTAATAATCATACTAAACATGCCTATAGTACCAGAAATTAAAAGGCTACATGTACTGTGACAGAGCTGTGTGTGTGCTCGGGGCAGGAGGGCCACTGCAAGGAAGGTGCCACAAGGGTGCTGGGATTTCACTTTTGAAAGTGTGATAGAGTCCAGTACAGGACAAGGGGCCACCCTCCCCCAGAGATCAGCTCCGATGAATCAAGGATTCTCGAATCCCCTCAGGTCCCCAGCACTGTGCTAAATGCTCTAGGGAACAAAAGGGCAAGGCTGGCCAGTCGGGGTCCATGGCCACAGTGGGTCTCCACTCCTTCCTCCCTAGGCTTCTGGTCTTTCTGTTGCCAGCTCTCTGACAACCACTGCACCAGCCGGCCAGTGCCTGCCATTTCCCCCGCTCCCCAACAACTGAGATGTGTGTGTGGAAAAACACCACTGACCCTCCAGGTCAGCAAAGTCAAAGCTGGAATTCTTTTGAAGGGAATACTTACTGAAAAGCTAAGGGAAAATGAAACACAATACAACACGACACGGAAAGCAAGGTTATACGGTACATTCAGATCCCAGTGAGTGATGTGTAGGCAAAATTTCTCTTGGCAGGTAGAGCTCCTGGATATCTGAGTACATGGGTCCTGTTGTTGTCCTTGACTTGGGGCCACATGGAACAGAGCCACACAATGATGCTCCGGCTCCTAGGCTGTGGGGGCTTTGAGCTGCACCTCAGTTACTCCCACCAAAAACTTCCTTAGTCCCAGCTCCAGAAAAGGAGCCTGGGTCAGCCGCTGCACCTTCTGCTGTGGCTCCCTTAGCCCTCAGGAGGCCTGTGTTAGTCCCAAGTCCTGGGGTAAGGAGGGCACTTGGCCATTTGGATCCCAAAGAGTCTTGCTGTGGGACGTCGGCTGCCTGGCAGTGGCCCTGGCAGATGACTCCTACGCTCTTCTCTAGGGGCCTCTTGGCTCTCGACTCAGGTCTGCTTTCTACCAGAAGGCTTTGCCCACCACAGCTTTGCGATGGTCCTGCTCTTGCTCCTTGCTGAATGTGGTACCATCTTTCCCTGGAGACATCCCATGGTGTGTGTGCCCCGGTCCATGAAGACTTTCTCTTTCCTATTTCAGGCTCTCACTCCCTCCTGGCTGAAGAATGCCCTGAGCTCCCCATGTGTCTCCTGGATGTGCCTTCCAGGAAGGGGCAAGTTCAGATTTCTAGCTCCACTGACTCAGACGACTACTGTTGCTGACTCATAACTCCCATATCCTTCCACTCCAACCCCATCTACGCTAGCATCCCATTGCTGTCATTTTATGTAAACACATGGCATAGGAAAAGCCAACCTATTTATCATAAGGAAAGACCCCTGCTCTTCAGAAACTTACAATCTACTTGAAGAGTGTTATAGATGGAATGTTTGTGTCCCCCAAAAGGACTGCTGAACCAAAGAATGGCTGCTTGAGCCCACGGCTTCTGGAAGATTCATCAGAGGCAAGAGTGCAGGAATGGGAGACGGGTCCAGATGCTGCCACAGAAGCCCAAAGCATGAGGGAACAAAGACCTGCGTGTGGCTGGGAGCCATTCAGGGCAGAGCTGACTCAGAAGGAAGAGCCCCTAAGACCAGGGAGAAGAAAGTCCAGGAAGAAATAGACCATGGCCTGAAGTAGTAACCAATGCTGTGATTATGAAGTGAGACCCCAA
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GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAAATATTTTCTCCCCTAAATCCCTGTGGATTTGGTGGAATGCCCAGACTGGCCCGGGCAGAGCAAGGAAACTGTGGCAAGCTGTAAAATGGTAATTCCCCTGGAGAAGTGAGAGGCACAGCCCCAAAAATGGAAGGAGGAGGTATCCTGATCTCAGGTGAGAGATGCTGAGGCCTGGAATGGGGATGATGAGGGGCTTTTCAGGAATGCTGAGGCCTGGGGGTGAGTGTGGTGCAGTGTGCCAGAGGCGAGGTACATGTGTTAATAAAGGGCAGTGGGAGGACCCCAGGGACCCTGCCAGCAAGGGCTTCCTTCAAGATGCTGGACCAGAAGCTCAGACAGGGCCAGAGTGAATGGGGAGAGCCAGGCTGGGGACTGGTCAGCTTAAGTGGAGACCTGACAAGACATGGCGACCACCGAGGCAGCGCTGGAAGGGAAGTGGAGACAGGTGGGGACTGGGGGGCCTGGAGAGGTACTACAGAGCTTTGCCCCCTCGTTTGGCTGTCTGGATGTCACCAGCCATATCACTGTGACTCACTTAGGATGCAACCAGATGGCATCAAGGACACCCCCCACAGTACTAAAACATTCTGCACTCAGGGTGGCCACAGCATGTGCTCCGTGCCAGCCTGGAGCCATGAGTGACCACTGCCATCTTGGCCATTTCTCCGTGTCCCCCACACTCAAAGGCAGACCTTCCATGTTCATATCAGCCATGGGGGCTGACGCAGCATGCGGCACTTAGATGAGCTCCACTGATGCTTGCTGAGGGTCTGGGGAGATGGTAATCTAAGATGGGAGGGAAGGCCTCCGGTTTGGAGCAACCTTATCTCACAGGAGCTAGTGGGAGCCCCATCACCCTGCAGACCCGCCCACTCTCTCCCCTAGGCCACACAGCCCCCCAGGCCTCCCATGTGTGAGCCATGACTCAGAGTCACCAGACCCCTACCTGATTCACACACAGAAGAGGAGACAGTGGGGATCCAGACCTGGAATCCAAACAGGACTCCGCCCCCAAAGAGGGAAGGGCTGGACCCCTGATGTGGCCCTCAGCCCTGCTCCCACCCCACCCAAGAGTGGTGCACACAGGGCAGGTCCCTCTTTGCACCAGGAATCTGTGGCCCTGGGAATGGCCTGCCTTCCCTGACCCAGGCAGTCGGTCTAGGAAGAGATGGGACTTTCTTCCTTCTCAGAACCACCAAACCCCAGAACTCAGAGAGGGGAATAGCCAGGTGTGGGGTGTTTCAGGGGATGACAGCTCCTGTCTCCTCTTCTTCTCCCTCATCCCTCCCCTGCGGAGCACCTTAATCCCAGTTAGGAATGCTGGCTTCTCTCCTTACTCCAACTCAAGGCGGGGTGCAGTGCGGGGAGGGAGTGGTGAGCAGTGTGGGGAAGGAGTGGGGGCCGTGTGGGGAGGGAGAGAGGGACCCTCTGGCTGCTGGGCTTGTTTGCAAACCACAGGGACGCCACATGGCTATGGGCACCAGGCCTTGGGCACGGGCTGGGTAGAACTCACTTCCCACAGGGCCTGGAATGCTGGACTCTCTCCAGGGGAAACATTCCCCATGGGTTGGTCCCCTCCCGGGGAGTGGGGCTGGCAGCCGTAATAAGCACTGCCCGCCCTAGGCCAGGCACTCAGCTGAGGTACATCTCAGGGCTCGACTCCGTCCCACTGTGCAAGGGCAGGGGCCTCACTCACCTGCTGCTGGTTCTCCCGCTGCGAGTGGAGCTGCGCCTGGATGCACTCTCGGGTCTCCTGGAAAGCCTGTCTCTGGGAGACCTCAGCCGGATAGTGGGTGCAGACACCCACGATGTTGGTGCAGGAGAAAATGAGAACATTGGAGACAAGCTGCAGAGGGAGAGAGGAGCACACCTAGCTCAGATCCTGACCTTCCTGGCCCCAAAGCATGAAGCCCTCAGCCCCTGTCTCAGCAAACTCACACCTGGCGCTAGCAAACAAATGCTGAGGGCACCCCACACGCGGCCAACCACTGTGAGCAGCCGAGCATAATCGATCGGGCTCTCTGATGTCCTCAAAGCCAGAAGTTTGGCTGGCTTGTCATGGGATATGTCCTCTAAAGACACTGAATCACCTAATAATCATACTAAACATGCCTATAGTACCAGAAATTAAAAGGCTACATGTACTGTGACAGAGCTGTGTGTGTGCTCGGGGCAGGAGGGCCACTGCAAGGAAGGTGCCACAAGGGTGCTGGGATTTCACTTTTGAAAGTGTGATAGAGTCCAGTACAGGACAAGGGGCCACCCTCCCCCAGAGATCAGCTCCGATGAATCAAGGATTCTCGAATCCCCTCAGGTCCCCAGCACTGTGCTAAATGCTCTAGGGAACAAAAGGGCAAGGCTGGCCAGTCGGGGTCCATGGCCACAGTGGGTCTCCACTCCTTCCTCCCTAGGCTTCTGGTCTTTCTGTTGCCAGCTCTCTGACAACCACTGCACCAGCCGGCCAGTGCCTGCCATTTCCCCCGCTCCCCAACAACTGAGATGTGTGTGTGGAAAAACACCACTGACCCTCCAGGTCAGCAAAGTCAAAGCTGGAATTCTTTTGAAGGGAATACTTACTGAAAAGCTAAGGGAAAATGAAACACAATACAACACGACACGGAAAGCAAGGTTATACGGTACATTCAGATCCCAGTGAGTGATGTGTAGGCAAAATTTCTCTTGGCAGGTAGAGCTCCTGGATATCTGAGTACATGGGTCCTGTTGTTGTCCTTGACTTGGGGCCACATGGAACAGAGCCACACAATGATGCTCCGGCTCCTAGGCTGTGGGGGCTTTGAGCTGCACCTCAGTTACTCCCACCAAAAACTTCCTTAGTCCCAGCTCCAGAAAAGGAGCCTGGGTCAGCCGCTGCACCTTCTGCTGTGGCTCCCTTAGCCCTCAGGAGGCCTGTGTTAGTCCCAAGTCCTGGGGTAAGGAGGGCACTTGGCCATTTGGATCCCAAAGAGTCTTGCTGTGGGACGTCGGCTGCCTGGCAGTGGCCCTGGCAGATGACTCCTACGCTCTTCTCTAGGGGCCTCTTGGCTCTCGACTCAGGTCTGCTTTCTACCAGAAGGCTTTGCCCACCACAGCTTTGCGATGGTCCTGCTCTTGCTCCTTGCTGAATGTGGTACCATCTTTCCCTGGAGACATCCCATGGTGTGTGTGCCCCGGTCCATGAAGACTTTCTCTTTCCTATTTCAGGCTCTCACTCCCTCCTGGCTGAAGAATGCCCTGAGCTCCCCATGTGTCTCCTGGATGTGCCTTCCAGGAAGGGGCAAGTTCAGATTTCTAGCTCCACTGACTCAGACGACTACTGTTGCTGACTCATAACTCCCATATCCTTCCACTCCAACCCCATCTACGCTAGCATCCCATTGCTGTCATTTTATGTAAACACATGGCATAGGAAAAGCCAACCTATTTATCATAAGGAAAGACCCCTGCTCTTCAGAAACTTACAATCTACTTGAAGAGTGTTATAGATGGAATGTTTGTGTCCCCCAAAAGGACTGCTGAACCAAAGAATGGCTGCTTGAGCCCACGGCTTCTGGAAGATTCATCAGAGGCAAGAGTGCAGGAATGGGAGACGGGTCCAGATGCTGCCACAGAAGCCCAAAGCATGAGGGAACAAAGACCTGCGTGTGGCTGGGAGCCATTCAGGGCAGAGCTGACTCAGAAGGAAGAGCCCCTAAGACCAGGGAGAAGAAAGTCCAGGAAGAAATAGACCATGGCCTGAAGTAGTAACCAATGCTGTGATTATGAAGTGAGACCCCAA
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Task1_train_7464
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This variant affects gene ADCY5 (adenylate cyclase 5) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
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Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant
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TAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAAATATTTTCTCCCCTAAATCCCTGTGGATTTGGTGGAATGCCCAGACTGGCCCGGGCAGAGCAAGGAAACTGTGGCAAGCTGTAAAATGGTAATTCCCCTGGAGAAGTGAGAGGCACAGCCCCAAAAATGGAAGGAGGAGGTATCCTGATCTCAGGTGAGAGATGCTGAGGCCTGGAATGGGGATGATGAGGGGCTTTTCAGGAATGCTGAGGCCTGGGGGTGAGTGTGGTGCAGTGTGCCAGAGGCGAGGTACATGTGTTAATAAAGGGCAGTGGGAGGACCCCAGGGACCCTGCCAGCAAGGGCTTCCTTCAAGATGCTGGACCAGAAGCTCAGACAGGGCCAGAGTGAATGGGGAGAGCCAGGCTGGGGACTGGTCAGCTTAAGTGGAGACCTGACAAGACATGGCGACCACCGAGGCAGCGCTGGAAGGGAAGTGGAGACAGGTGGGGACTGGGGGGCCTGGAGAGGTACTACAGAGCTTTGCCCCCTCGTTTGGCTGTCTGGATGTCACCAGCCATATCACTGTGACTCACTTAGGATGCAACCAGATGGCATCAAGGACACCCCCCACAGTACTAAAACATTCTGCACTCAGGGTGGCCACAGCATGTGCTCCGTGCCAGCCTGGAGCCATGAGTGACCACTGCCATCTTGGCCATTTCTCCGTGTCCCCCACACTCAAAGGCAGACCTTCCATGTTCATATCAGCCATGGGGGCTGACGCAGCATGCGGCACTTAGATGAGCTCCACTGATGCTTGCTGAGGGTCTGGGGAGATGGTAATCTAAGATGGGAGGGAAGGCCTCCGGTTTGGAGCAACCTTATCTCACAGGAGCTAGTGGGAGCCCCATCACCCTGCAGACCCGCCCACTCTCTCCCCTAGGCCACACAGCCCCCCAGGCCTCCCATGTGTGAGCCATGACTCAGAGTCACCAGACCCCTACCTGATTCACACACAGAAGAGGAGACAGTGGGGATCCAGACCTGGAATCCAAACAGGACTCCGCCCCCAAAGAGGGAAGGGCTGGACCCCTGATGTGGCCCTCAGCCCTGCTCCCACCCCACCCAAGAGTGGTGCACACAGGGCAGGTCCCTCTTTGCACCAGGAATCTGTGGCCCTGGGAATGGCCTGCCTTCCCTGACCCAGGCAGTCGGTCTAGGAAGAGATGGGACTTTCTTCCTTCTCAGAACCACCAAACCCCAGAACTCAGAGAGGGGAATAGCCAGGTGTGGGGTGTTTCAGGGGATGACAGCTCCTGTCTCCTCTTCTTCTCCCTCATCCCTCCCCTGCGGAGCACCTTAATCCCAGTTAGGAATGCTGGCTTCTCTCCTTACTCCAACTCAAGGCGGGGTGCAGTGCGGGGAGGGAGTGGTGAGCAGTGTGGGGAAGGAGTGGGGGCCGTGTGGGGAGGGAGAGAGGGACCCTCTGGCTGCTGGGCTTGTTTGCAAACCACAGGGACGCCACATGGCTATGGGCACCAGGCCTTGGGCACGGGCTGGGTAGAACTCACTTCCCACAGGGCCTGGAATGCTGGACTCTCTCCAGGGGAAACATTCCCCATGGGTTGGTCCCCTCCCGGGGAGTGGGGCTGGCAGCCGTAATAAGCACTGCCCGCCCTAGGCCAGGCACTCAGCTGAGGTACATCTCAGGGCTCGACTCCGTCCCACTGTGCAAGGGCAGGGGCCTCACTCACCTGCTGCTGGTTCTCCCGCTGCGAGTGGAGCCGCGCCTGGATGCACTCTCGGGTCTCCTGGAAAGCCTGTCTCTGGGAGACCTCAGCCGGATAGTGGGTGCAGACACCCACGATGTTGGTGCAGGAGAAAATGAGAACATTGGAGACAAGCTGCAGAGGGAGAGAGGAGCACACCTAGCTCAGATCCTGACCTTCCTGGCCCCAAAGCATGAAGCCCTCAGCCCCTGTCTCAGCAAACTCACACCTGGCGCTAGCAAACAAATGCTGAGGGCACCCCACACGCGGCCAACCACTGTGAGCAGCCGAGCATAATCGATCGGGCTCTCTGATGTCCTCAAAGCCAGAAGTTTGGCTGGCTTGTCATGGGATATGTCCTCTAAAGACACTGAATCACCTAATAATCATACTAAACATGCCTATAGTACCAGAAATTAAAAGGCTACATGTACTGTGACAGAGCTGTGTGTGTGCTCGGGGCAGGAGGGCCACTGCAAGGAAGGTGCCACAAGGGTGCTGGGATTTCACTTTTGAAAGTGTGATAGAGTCCAGTACAGGACAAGGGGCCACCCTCCCCCAGAGATCAGCTCCGATGAATCAAGGATTCTCGAATCCCCTCAGGTCCCCAGCACTGTGCTAAATGCTCTAGGGAACAAAAGGGCAAGGCTGGCCAGTCGGGGTCCATGGCCACAGTGGGTCTCCACTCCTTCCTCCCTAGGCTTCTGGTCTTTCTGTTGCCAGCTCTCTGACAACCACTGCACCAGCCGGCCAGTGCCTGCCATTTCCCCCGCTCCCCAACAACTGAGATGTGTGTGTGGAAAAACACCACTGACCCTCCAGGTCAGCAAAGTCAAAGCTGGAATTCTTTTGAAGGGAATACTTACTGAAAAGCTAAGGGAAAATGAAACACAATACAACACGACACGGAAAGCAAGGTTATACGGTACATTCAGATCCCAGTGAGTGATGTGTAGGCAAAATTTCTCTTGGCAGGTAGAGCTCCTGGATATCTGAGTACATGGGTCCTGTTGTTGTCCTTGACTTGGGGCCACATGGAACAGAGCCACACAATGATGCTCCGGCTCCTAGGCTGTGGGGGCTTTGAGCTGCACCTCAGTTACTCCCACCAAAAACTTCCTTAGTCCCAGCTCCAGAAAAGGAGCCTGGGTCAGCCGCTGCACCTTCTGCTGTGGCTCCCTTAGCCCTCAGGAGGCCTGTGTTAGTCCCAAGTCCTGGGGTAAGGAGGGCACTTGGCCATTTGGATCCCAAAGAGTCTTGCTGTGGGACGTCGGCTGCCTGGCAGTGGCCCTGGCAGATGACTCCTACGCTCTTCTCTAGGGGCCTCTTGGCTCTCGACTCAGGTCTGCTTTCTACCAGAAGGCTTTGCCCACCACAGCTTTGCGATGGTCCTGCTCTTGCTCCTTGCTGAATGTGGTACCATCTTTCCCTGGAGACATCCCATGGTGTGTGTGCCCCGGTCCATGAAGACTTTCTCTTTCCTATTTCAGGCTCTCACTCCCTCCTGGCTGAAGAATGCCCTGAGCTCCCCATGTGTCTCCTGGATGTGCCTTCCAGGAAGGGGCAAGTTCAGATTTCTAGCTCCACTGACTCAGACGACTACTGTTGCTGACTCATAACTCCCATATCCTTCCACTCCAACCCCATCTACGCTAGCATCCCATTGCTGTCATTTTATGTAAACACATGGCATAGGAAAAGCCAACCTATTTATCATAAGGAAAGACCCCTGCTCTTCAGAAACTTACAATCTACTTGAAGAGTGTTATAGATGGAATGTTTGTGTCCCCCAAAAGGACTGCTGAACCAAAGAATGGCTGCTTGAGCCCACGGCTTCTGGAAGATTCATCAGAGGCAAGAGTGCAGGAATGGGAGACGGGTCCAGATGCTGCCACAGAAGCCCAAAGCATGAGGGAACAAAGACCTGCGTGTGGCTGGGAGCCATTCAGGGCAGAGCTGACTCAGAAGGAAGAGCCCCTAAGACCAGGGAGAAGAAAGTCCAGGAAGAAATAGACCATGGCCTGAAGTAGTAACCAATGCTGTGATTATGAAGTGAGACCCCAAA
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TAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAAATATTTTCTCCCCTAAATCCCTGTGGATTTGGTGGAATGCCCAGACTGGCCCGGGCAGAGCAAGGAAACTGTGGCAAGCTGTAAAATGGTAATTCCCCTGGAGAAGTGAGAGGCACAGCCCCAAAAATGGAAGGAGGAGGTATCCTGATCTCAGGTGAGAGATGCTGAGGCCTGGAATGGGGATGATGAGGGGCTTTTCAGGAATGCTGAGGCCTGGGGGTGAGTGTGGTGCAGTGTGCCAGAGGCGAGGTACATGTGTTAATAAAGGGCAGTGGGAGGACCCCAGGGACCCTGCCAGCAAGGGCTTCCTTCAAGATGCTGGACCAGAAGCTCAGACAGGGCCAGAGTGAATGGGGAGAGCCAGGCTGGGGACTGGTCAGCTTAAGTGGAGACCTGACAAGACATGGCGACCACCGAGGCAGCGCTGGAAGGGAAGTGGAGACAGGTGGGGACTGGGGGGCCTGGAGAGGTACTACAGAGCTTTGCCCCCTCGTTTGGCTGTCTGGATGTCACCAGCCATATCACTGTGACTCACTTAGGATGCAACCAGATGGCATCAAGGACACCCCCCACAGTACTAAAACATTCTGCACTCAGGGTGGCCACAGCATGTGCTCCGTGCCAGCCTGGAGCCATGAGTGACCACTGCCATCTTGGCCATTTCTCCGTGTCCCCCACACTCAAAGGCAGACCTTCCATGTTCATATCAGCCATGGGGGCTGACGCAGCATGCGGCACTTAGATGAGCTCCACTGATGCTTGCTGAGGGTCTGGGGAGATGGTAATCTAAGATGGGAGGGAAGGCCTCCGGTTTGGAGCAACCTTATCTCACAGGAGCTAGTGGGAGCCCCATCACCCTGCAGACCCGCCCACTCTCTCCCCTAGGCCACACAGCCCCCCAGGCCTCCCATGTGTGAGCCATGACTCAGAGTCACCAGACCCCTACCTGATTCACACACAGAAGAGGAGACAGTGGGGATCCAGACCTGGAATCCAAACAGGACTCCGCCCCCAAAGAGGGAAGGGCTGGACCCCTGATGTGGCCCTCAGCCCTGCTCCCACCCCACCCAAGAGTGGTGCACACAGGGCAGGTCCCTCTTTGCACCAGGAATCTGTGGCCCTGGGAATGGCCTGCCTTCCCTGACCCAGGCAGTCGGTCTAGGAAGAGATGGGACTTTCTTCCTTCTCAGAACCACCAAACCCCAGAACTCAGAGAGGGGAATAGCCAGGTGTGGGGTGTTTCAGGGGATGACAGCTCCTGTCTCCTCTTCTTCTCCCTCATCCCTCCCCTGCGGAGCACCTTAATCCCAGTTAGGAATGCTGGCTTCTCTCCTTACTCCAACTCAAGGCGGGGTGCAGTGCGGGGAGGGAGTGGTGAGCAGTGTGGGGAAGGAGTGGGGGCCGTGTGGGGAGGGAGAGAGGGACCCTCTGGCTGCTGGGCTTGTTTGCAAACCACAGGGACGCCACATGGCTATGGGCACCAGGCCTTGGGCACGGGCTGGGTAGAACTCACTTCCCACAGGGCCTGGAATGCTGGACTCTCTCCAGGGGAAACATTCCCCATGGGTTGGTCCCCTCCCGGGGAGTGGGGCTGGCAGCCGTAATAAGCACTGCCCGCCCTAGGCCAGGCACTCAGCTGAGGTACATCTCAGGGCTCGACTCCGTCCCACTGTGCAAGGGCAGGGGCCTCACTCACCTGCTGCTGGTTCTCCCGCTGCGAGTGGAGCCACGCCTGGATGCACTCTCGGGTCTCCTGGAAAGCCTGTCTCTGGGAGACCTCAGCCGGATAGTGGGTGCAGACACCCACGATGTTGGTGCAGGAGAAAATGAGAACATTGGAGACAAGCTGCAGAGGGAGAGAGGAGCACACCTAGCTCAGATCCTGACCTTCCTGGCCCCAAAGCATGAAGCCCTCAGCCCCTGTCTCAGCAAACTCACACCTGGCGCTAGCAAACAAATGCTGAGGGCACCCCACACGCGGCCAACCACTGTGAGCAGCCGAGCATAATCGATCGGGCTCTCTGATGTCCTCAAAGCCAGAAGTTTGGCTGGCTTGTCATGGGATATGTCCTCTAAAGACACTGAATCACCTAATAATCATACTAAACATGCCTATAGTACCAGAAATTAAAAGGCTACATGTACTGTGACAGAGCTGTGTGTGTGCTCGGGGCAGGAGGGCCACTGCAAGGAAGGTGCCACAAGGGTGCTGGGATTTCACTTTTGAAAGTGTGATAGAGTCCAGTACAGGACAAGGGGCCACCCTCCCCCAGAGATCAGCTCCGATGAATCAAGGATTCTCGAATCCCCTCAGGTCCCCAGCACTGTGCTAAATGCTCTAGGGAACAAAAGGGCAAGGCTGGCCAGTCGGGGTCCATGGCCACAGTGGGTCTCCACTCCTTCCTCCCTAGGCTTCTGGTCTTTCTGTTGCCAGCTCTCTGACAACCACTGCACCAGCCGGCCAGTGCCTGCCATTTCCCCCGCTCCCCAACAACTGAGATGTGTGTGTGGAAAAACACCACTGACCCTCCAGGTCAGCAAAGTCAAAGCTGGAATTCTTTTGAAGGGAATACTTACTGAAAAGCTAAGGGAAAATGAAACACAATACAACACGACACGGAAAGCAAGGTTATACGGTACATTCAGATCCCAGTGAGTGATGTGTAGGCAAAATTTCTCTTGGCAGGTAGAGCTCCTGGATATCTGAGTACATGGGTCCTGTTGTTGTCCTTGACTTGGGGCCACATGGAACAGAGCCACACAATGATGCTCCGGCTCCTAGGCTGTGGGGGCTTTGAGCTGCACCTCAGTTACTCCCACCAAAAACTTCCTTAGTCCCAGCTCCAGAAAAGGAGCCTGGGTCAGCCGCTGCACCTTCTGCTGTGGCTCCCTTAGCCCTCAGGAGGCCTGTGTTAGTCCCAAGTCCTGGGGTAAGGAGGGCACTTGGCCATTTGGATCCCAAAGAGTCTTGCTGTGGGACGTCGGCTGCCTGGCAGTGGCCCTGGCAGATGACTCCTACGCTCTTCTCTAGGGGCCTCTTGGCTCTCGACTCAGGTCTGCTTTCTACCAGAAGGCTTTGCCCACCACAGCTTTGCGATGGTCCTGCTCTTGCTCCTTGCTGAATGTGGTACCATCTTTCCCTGGAGACATCCCATGGTGTGTGTGCCCCGGTCCATGAAGACTTTCTCTTTCCTATTTCAGGCTCTCACTCCCTCCTGGCTGAAGAATGCCCTGAGCTCCCCATGTGTCTCCTGGATGTGCCTTCCAGGAAGGGGCAAGTTCAGATTTCTAGCTCCACTGACTCAGACGACTACTGTTGCTGACTCATAACTCCCATATCCTTCCACTCCAACCCCATCTACGCTAGCATCCCATTGCTGTCATTTTATGTAAACACATGGCATAGGAAAAGCCAACCTATTTATCATAAGGAAAGACCCCTGCTCTTCAGAAACTTACAATCTACTTGAAGAGTGTTATAGATGGAATGTTTGTGTCCCCCAAAAGGACTGCTGAACCAAAGAATGGCTGCTTGAGCCCACGGCTTCTGGAAGATTCATCAGAGGCAAGAGTGCAGGAATGGGAGACGGGTCCAGATGCTGCCACAGAAGCCCAAAGCATGAGGGAACAAAGACCTGCGTGTGGCTGGGAGCCATTCAGGGCAGAGCTGACTCAGAAGGAAGAGCCCCTAAGACCAGGGAGAAGAAAGTCCAGGAAGAAATAGACCATGGCCTGAAGTAGTAACCAATGCTGTGATTATGAAGTGAGACCCCAAA
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Task1_train_7465
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This genomic variant is located on Chromosome 3, within the ADCY5 (adenylate cyclase 5) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Inborn genetic diseases
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TAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAAATATTTTCTCCCCTAAATCCCTGTGGATTTGGTGGAATGCCCAGACTGGCCCGGGCAGAGCAAGGAAACTGTGGCAAGCTGTAAAATGGTAATTCCCCTGGAGAAGTGAGAGGCACAGCCCCAAAAATGGAAGGAGGAGGTATCCTGATCTCAGGTGAGAGATGCTGAGGCCTGGAATGGGGATGATGAGGGGCTTTTCAGGAATGCTGAGGCCTGGGGGTGAGTGTGGTGCAGTGTGCCAGAGGCGAGGTACATGTGTTAATAAAGGGCAGTGGGAGGACCCCAGGGACCCTGCCAGCAAGGGCTTCCTTCAAGATGCTGGACCAGAAGCTCAGACAGGGCCAGAGTGAATGGGGAGAGCCAGGCTGGGGACTGGTCAGCTTAAGTGGAGACCTGACAAGACATGGCGACCACCGAGGCAGCGCTGGAAGGGAAGTGGAGACAGGTGGGGACTGGGGGGCCTGGAGAGGTACTACAGAGCTTTGCCCCCTCGTTTGGCTGTCTGGATGTCACCAGCCATATCACTGTGACTCACTTAGGATGCAACCAGATGGCATCAAGGACACCCCCCACAGTACTAAAACATTCTGCACTCAGGGTGGCCACAGCATGTGCTCCGTGCCAGCCTGGAGCCATGAGTGACCACTGCCATCTTGGCCATTTCTCCGTGTCCCCCACACTCAAAGGCAGACCTTCCATGTTCATATCAGCCATGGGGGCTGACGCAGCATGCGGCACTTAGATGAGCTCCACTGATGCTTGCTGAGGGTCTGGGGAGATGGTAATCTAAGATGGGAGGGAAGGCCTCCGGTTTGGAGCAACCTTATCTCACAGGAGCTAGTGGGAGCCCCATCACCCTGCAGACCCGCCCACTCTCTCCCCTAGGCCACACAGCCCCCCAGGCCTCCCATGTGTGAGCCATGACTCAGAGTCACCAGACCCCTACCTGATTCACACACAGAAGAGGAGACAGTGGGGATCCAGACCTGGAATCCAAACAGGACTCCGCCCCCAAAGAGGGAAGGGCTGGACCCCTGATGTGGCCCTCAGCCCTGCTCCCACCCCACCCAAGAGTGGTGCACACAGGGCAGGTCCCTCTTTGCACCAGGAATCTGTGGCCCTGGGAATGGCCTGCCTTCCCTGACCCAGGCAGTCGGTCTAGGAAGAGATGGGACTTTCTTCCTTCTCAGAACCACCAAACCCCAGAACTCAGAGAGGGGAATAGCCAGGTGTGGGGTGTTTCAGGGGATGACAGCTCCTGTCTCCTCTTCTTCTCCCTCATCCCTCCCCTGCGGAGCACCTTAATCCCAGTTAGGAATGCTGGCTTCTCTCCTTACTCCAACTCAAGGCGGGGTGCAGTGCGGGGAGGGAGTGGTGAGCAGTGTGGGGAAGGAGTGGGGGCCGTGTGGGGAGGGAGAGAGGGACCCTCTGGCTGCTGGGCTTGTTTGCAAACCACAGGGACGCCACATGGCTATGGGCACCAGGCCTTGGGCACGGGCTGGGTAGAACTCACTTCCCACAGGGCCTGGAATGCTGGACTCTCTCCAGGGGAAACATTCCCCATGGGTTGGTCCCCTCCCGGGGAGTGGGGCTGGCAGCCGTAATAAGCACTGCCCGCCCTAGGCCAGGCACTCAGCTGAGGTACATCTCAGGGCTCGACTCCGTCCCACTGTGCAAGGGCAGGGGCCTCACTCACCTGCTGCTGGTTCTCCCGCTGCGAGTGGAGCCGCGCCTGGATGCACTCTCGGGTCTCCTGGAAAGCCTGTCTCTGGGAGACCTCAGCCGGATAGTGGGTGCAGACACCCACGATGTTGGTGCAGGAGAAAATGAGAACATTGGAGACAAGCTGCAGAGGGAGAGAGGAGCACACCTAGCTCAGATCCTGACCTTCCTGGCCCCAAAGCATGAAGCCCTCAGCCCCTGTCTCAGCAAACTCACACCTGGCGCTAGCAAACAAATGCTGAGGGCACCCCACACGCGGCCAACCACTGTGAGCAGCCGAGCATAATCGATCGGGCTCTCTGATGTCCTCAAAGCCAGAAGTTTGGCTGGCTTGTCATGGGATATGTCCTCTAAAGACACTGAATCACCTAATAATCATACTAAACATGCCTATAGTACCAGAAATTAAAAGGCTACATGTACTGTGACAGAGCTGTGTGTGTGCTCGGGGCAGGAGGGCCACTGCAAGGAAGGTGCCACAAGGGTGCTGGGATTTCACTTTTGAAAGTGTGATAGAGTCCAGTACAGGACAAGGGGCCACCCTCCCCCAGAGATCAGCTCCGATGAATCAAGGATTCTCGAATCCCCTCAGGTCCCCAGCACTGTGCTAAATGCTCTAGGGAACAAAAGGGCAAGGCTGGCCAGTCGGGGTCCATGGCCACAGTGGGTCTCCACTCCTTCCTCCCTAGGCTTCTGGTCTTTCTGTTGCCAGCTCTCTGACAACCACTGCACCAGCCGGCCAGTGCCTGCCATTTCCCCCGCTCCCCAACAACTGAGATGTGTGTGTGGAAAAACACCACTGACCCTCCAGGTCAGCAAAGTCAAAGCTGGAATTCTTTTGAAGGGAATACTTACTGAAAAGCTAAGGGAAAATGAAACACAATACAACACGACACGGAAAGCAAGGTTATACGGTACATTCAGATCCCAGTGAGTGATGTGTAGGCAAAATTTCTCTTGGCAGGTAGAGCTCCTGGATATCTGAGTACATGGGTCCTGTTGTTGTCCTTGACTTGGGGCCACATGGAACAGAGCCACACAATGATGCTCCGGCTCCTAGGCTGTGGGGGCTTTGAGCTGCACCTCAGTTACTCCCACCAAAAACTTCCTTAGTCCCAGCTCCAGAAAAGGAGCCTGGGTCAGCCGCTGCACCTTCTGCTGTGGCTCCCTTAGCCCTCAGGAGGCCTGTGTTAGTCCCAAGTCCTGGGGTAAGGAGGGCACTTGGCCATTTGGATCCCAAAGAGTCTTGCTGTGGGACGTCGGCTGCCTGGCAGTGGCCCTGGCAGATGACTCCTACGCTCTTCTCTAGGGGCCTCTTGGCTCTCGACTCAGGTCTGCTTTCTACCAGAAGGCTTTGCCCACCACAGCTTTGCGATGGTCCTGCTCTTGCTCCTTGCTGAATGTGGTACCATCTTTCCCTGGAGACATCCCATGGTGTGTGTGCCCCGGTCCATGAAGACTTTCTCTTTCCTATTTCAGGCTCTCACTCCCTCCTGGCTGAAGAATGCCCTGAGCTCCCCATGTGTCTCCTGGATGTGCCTTCCAGGAAGGGGCAAGTTCAGATTTCTAGCTCCACTGACTCAGACGACTACTGTTGCTGACTCATAACTCCCATATCCTTCCACTCCAACCCCATCTACGCTAGCATCCCATTGCTGTCATTTTATGTAAACACATGGCATAGGAAAAGCCAACCTATTTATCATAAGGAAAGACCCCTGCTCTTCAGAAACTTACAATCTACTTGAAGAGTGTTATAGATGGAATGTTTGTGTCCCCCAAAAGGACTGCTGAACCAAAGAATGGCTGCTTGAGCCCACGGCTTCTGGAAGATTCATCAGAGGCAAGAGTGCAGGAATGGGAGACGGGTCCAGATGCTGCCACAGAAGCCCAAAGCATGAGGGAACAAAGACCTGCGTGTGGCTGGGAGCCATTCAGGGCAGAGCTGACTCAGAAGGAAGAGCCCCTAAGACCAGGGAGAAGAAAGTCCAGGAAGAAATAGACCATGGCCTGAAGTAGTAACCAATGCTGTGATTATGAAGTGAGACCCCAAA
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TAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAAATATTTTCTCCCCTAAATCCCTGTGGATTTGGTGGAATGCCCAGACTGGCCCGGGCAGAGCAAGGAAACTGTGGCAAGCTGTAAAATGGTAATTCCCCTGGAGAAGTGAGAGGCACAGCCCCAAAAATGGAAGGAGGAGGTATCCTGATCTCAGGTGAGAGATGCTGAGGCCTGGAATGGGGATGATGAGGGGCTTTTCAGGAATGCTGAGGCCTGGGGGTGAGTGTGGTGCAGTGTGCCAGAGGCGAGGTACATGTGTTAATAAAGGGCAGTGGGAGGACCCCAGGGACCCTGCCAGCAAGGGCTTCCTTCAAGATGCTGGACCAGAAGCTCAGACAGGGCCAGAGTGAATGGGGAGAGCCAGGCTGGGGACTGGTCAGCTTAAGTGGAGACCTGACAAGACATGGCGACCACCGAGGCAGCGCTGGAAGGGAAGTGGAGACAGGTGGGGACTGGGGGGCCTGGAGAGGTACTACAGAGCTTTGCCCCCTCGTTTGGCTGTCTGGATGTCACCAGCCATATCACTGTGACTCACTTAGGATGCAACCAGATGGCATCAAGGACACCCCCCACAGTACTAAAACATTCTGCACTCAGGGTGGCCACAGCATGTGCTCCGTGCCAGCCTGGAGCCATGAGTGACCACTGCCATCTTGGCCATTTCTCCGTGTCCCCCACACTCAAAGGCAGACCTTCCATGTTCATATCAGCCATGGGGGCTGACGCAGCATGCGGCACTTAGATGAGCTCCACTGATGCTTGCTGAGGGTCTGGGGAGATGGTAATCTAAGATGGGAGGGAAGGCCTCCGGTTTGGAGCAACCTTATCTCACAGGAGCTAGTGGGAGCCCCATCACCCTGCAGACCCGCCCACTCTCTCCCCTAGGCCACACAGCCCCCCAGGCCTCCCATGTGTGAGCCATGACTCAGAGTCACCAGACCCCTACCTGATTCACACACAGAAGAGGAGACAGTGGGGATCCAGACCTGGAATCCAAACAGGACTCCGCCCCCAAAGAGGGAAGGGCTGGACCCCTGATGTGGCCCTCAGCCCTGCTCCCACCCCACCCAAGAGTGGTGCACACAGGGCAGGTCCCTCTTTGCACCAGGAATCTGTGGCCCTGGGAATGGCCTGCCTTCCCTGACCCAGGCAGTCGGTCTAGGAAGAGATGGGACTTTCTTCCTTCTCAGAACCACCAAACCCCAGAACTCAGAGAGGGGAATAGCCAGGTGTGGGGTGTTTCAGGGGATGACAGCTCCTGTCTCCTCTTCTTCTCCCTCATCCCTCCCCTGCGGAGCACCTTAATCCCAGTTAGGAATGCTGGCTTCTCTCCTTACTCCAACTCAAGGCGGGGTGCAGTGCGGGGAGGGAGTGGTGAGCAGTGTGGGGAAGGAGTGGGGGCCGTGTGGGGAGGGAGAGAGGGACCCTCTGGCTGCTGGGCTTGTTTGCAAACCACAGGGACGCCACATGGCTATGGGCACCAGGCCTTGGGCACGGGCTGGGTAGAACTCACTTCCCACAGGGCCTGGAATGCTGGACTCTCTCCAGGGGAAACATTCCCCATGGGTTGGTCCCCTCCCGGGGAGTGGGGCTGGCAGCCGTAATAAGCACTGCCCGCCCTAGGCCAGGCACTCAGCTGAGGTACATCTCAGGGCTCGACTCCGTCCCACTGTGCAAGGGCAGGGGCCTCACTCACCTGCTGCTGGTTCTCCCGCTGCGAGTGGAGCCACGCCTGGATGCACTCTCGGGTCTCCTGGAAAGCCTGTCTCTGGGAGACCTCAGCCGGATAGTGGGTGCAGACACCCACGATGTTGGTGCAGGAGAAAATGAGAACATTGGAGACAAGCTGCAGAGGGAGAGAGGAGCACACCTAGCTCAGATCCTGACCTTCCTGGCCCCAAAGCATGAAGCCCTCAGCCCCTGTCTCAGCAAACTCACACCTGGCGCTAGCAAACAAATGCTGAGGGCACCCCACACGCGGCCAACCACTGTGAGCAGCCGAGCATAATCGATCGGGCTCTCTGATGTCCTCAAAGCCAGAAGTTTGGCTGGCTTGTCATGGGATATGTCCTCTAAAGACACTGAATCACCTAATAATCATACTAAACATGCCTATAGTACCAGAAATTAAAAGGCTACATGTACTGTGACAGAGCTGTGTGTGTGCTCGGGGCAGGAGGGCCACTGCAAGGAAGGTGCCACAAGGGTGCTGGGATTTCACTTTTGAAAGTGTGATAGAGTCCAGTACAGGACAAGGGGCCACCCTCCCCCAGAGATCAGCTCCGATGAATCAAGGATTCTCGAATCCCCTCAGGTCCCCAGCACTGTGCTAAATGCTCTAGGGAACAAAAGGGCAAGGCTGGCCAGTCGGGGTCCATGGCCACAGTGGGTCTCCACTCCTTCCTCCCTAGGCTTCTGGTCTTTCTGTTGCCAGCTCTCTGACAACCACTGCACCAGCCGGCCAGTGCCTGCCATTTCCCCCGCTCCCCAACAACTGAGATGTGTGTGTGGAAAAACACCACTGACCCTCCAGGTCAGCAAAGTCAAAGCTGGAATTCTTTTGAAGGGAATACTTACTGAAAAGCTAAGGGAAAATGAAACACAATACAACACGACACGGAAAGCAAGGTTATACGGTACATTCAGATCCCAGTGAGTGATGTGTAGGCAAAATTTCTCTTGGCAGGTAGAGCTCCTGGATATCTGAGTACATGGGTCCTGTTGTTGTCCTTGACTTGGGGCCACATGGAACAGAGCCACACAATGATGCTCCGGCTCCTAGGCTGTGGGGGCTTTGAGCTGCACCTCAGTTACTCCCACCAAAAACTTCCTTAGTCCCAGCTCCAGAAAAGGAGCCTGGGTCAGCCGCTGCACCTTCTGCTGTGGCTCCCTTAGCCCTCAGGAGGCCTGTGTTAGTCCCAAGTCCTGGGGTAAGGAGGGCACTTGGCCATTTGGATCCCAAAGAGTCTTGCTGTGGGACGTCGGCTGCCTGGCAGTGGCCCTGGCAGATGACTCCTACGCTCTTCTCTAGGGGCCTCTTGGCTCTCGACTCAGGTCTGCTTTCTACCAGAAGGCTTTGCCCACCACAGCTTTGCGATGGTCCTGCTCTTGCTCCTTGCTGAATGTGGTACCATCTTTCCCTGGAGACATCCCATGGTGTGTGTGCCCCGGTCCATGAAGACTTTCTCTTTCCTATTTCAGGCTCTCACTCCCTCCTGGCTGAAGAATGCCCTGAGCTCCCCATGTGTCTCCTGGATGTGCCTTCCAGGAAGGGGCAAGTTCAGATTTCTAGCTCCACTGACTCAGACGACTACTGTTGCTGACTCATAACTCCCATATCCTTCCACTCCAACCCCATCTACGCTAGCATCCCATTGCTGTCATTTTATGTAAACACATGGCATAGGAAAAGCCAACCTATTTATCATAAGGAAAGACCCCTGCTCTTCAGAAACTTACAATCTACTTGAAGAGTGTTATAGATGGAATGTTTGTGTCCCCCAAAAGGACTGCTGAACCAAAGAATGGCTGCTTGAGCCCACGGCTTCTGGAAGATTCATCAGAGGCAAGAGTGCAGGAATGGGAGACGGGTCCAGATGCTGCCACAGAAGCCCAAAGCATGAGGGAACAAAGACCTGCGTGTGGCTGGGAGCCATTCAGGGCAGAGCTGACTCAGAAGGAAGAGCCCCTAAGACCAGGGAGAAGAAAGTCCAGGAAGAAATAGACCATGGCCTGAAGTAGTAACCAATGCTGTGATTATGAAGTGAGACCCCAAA
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Task1_train_7466
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A mutation in ADCY5 (adenylate cyclase 5), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant
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CTGTGCTTAGGTAAGGGTGAGAGAATAGAGGAGGAAAAACACATACACCTTGGGATTTGTGCATCCATGGAGGTTACACTGGACAGACAGCAAAACAAGTGGACACTGGAAAATGAATAAGTGCTCCACTCTGTGCCTCTGACTCTATTGTTAATCATACAGAAGACCACGAGGTCAGTGTGGCTGGAATGGAAGAAGAAGGTTCCTTGCAGGGGTACAGCTTGGGGCAGAGGACGTTAGAAGTGGAAGGGACATAAACATTCCTCTCATTCTCTAGAAAAGGTAGCAAAGGCCCAGAGAGCTTGTGTGTCCCCTCCGTCCCAGTCACAGAGCACCCTGCAGGTTCAGCTAGAGCCCAGAGCCCTGAAACCCATAACAGTGCTATTCTCTATGGAAGAATACTATGTCCAGGAAGCCAGGGGACACAGGAGAGCAACTCAAGAAAGATGCGGTACTCAAGAGGATAAAAGTCTAAGAGAAGGCACTAGAAGAGGGGAGACAGAGGAAGGCAATGACAATGGAAAACCCTTAAGAGGTTCTATTCGAGAAGGCAGACACCAGTGGGCAGATGTGTGCACTGGGGTCCAAGGTGAAGAGACTTGCCTGTAGCAAGGGCCCAGTGGACTCTCACAGTGGAGCAGCATGCAAACAAGCAGGTTCAGAAGCAATCATGGATGAGGACCAGGAAACCAGACCACAGGACACTAAAGGGAGATATGGTATGGATGGCAGGGGGGCTCCTCTCACCCTGAGGTCAGGATAGCCAACATGCCCCTCTCACAGAAGCCTTTAAGAGAGTCACCAGCTAACCAGGCAAAAGTTGTATTTCTTCCTGAACCTGCAGTTCTAGACTCACCCAACAAATCCCAGCAGGGATAAAATGTCCCTACCACAAGCAATGACCAGGGGCACCCACTTGAAGGGGTCATGATGTTCAACAACAGCTTTCTGCTCAGGCCGGAAGGGGAATTGCCACCACACACATCTCGGAGGCTCCTTCCCACTTTAGCGAAGGGCAGGTTTTTGGCTTGGGGCGCTCTGCTAACTGAAACAAACTTGTCAGTCCTTCTGCAAGTTCAGGGATATCTCCAGCTACCAAATCCCCAGCCTTAGACAGGTGGCAGGCTCATGCTACCTCCTCCTTACCACTGAGCAAGGGGTGCAGGGTGTCCCCTCACCAACCCTCTATCCAGGGCTGGATTAACAAAGCAGCAGTGGCACTCACGAGGGGGTGGCTGCTAGAGGGTCCAGCCACTTTCGTTAGGGGCCTTTTGTATATAGGAACAGAAGCTCAGGAAGAGATGGGAAACACTCCTTATAATTTTCTCCTCCAACCTTCCTCACTGCATTCCCACAGTGATGGCTACAGTTCAGTACACGTTATCTAAGGGGCAAGGAACACTGCAAACGACACAAGGGCACTCTTTTTGTAAATGAAGCCGCTGGGGCTCAGAGTGGGGTAAGAAGCTCCCAAATAGCCTACATGGCCGAGCCCTGTCTCTCTGGCTCTTTTCACCATTCGAAAGGGTGAGGGTGGGATCCCTTTCTTTGGAGTCCAGCTGAGGCCTGCCCGCCCCGCAATCCAGTCCCGGTGGCCAGGTCGGCCCCTACCTGCTTCAGCAGGAACTGGTCCTGGGCGTTGGTGCGCAGGGCGATGGCCAGGTGGAGGGCGGACAGGAGCACCCCGCTGAGCACTGCGGCCCGCATGCGCACGGGCAGCAGCGTGTAGATGGTGTAGATGAAGAACACGGTCCACCAGATGCCCTCAGAGGCGCTGCGTGGCTGCGGCAGCAGCAGGCCCACCACCTGGACGGCCAGCACCACGGCGATGAGCGCATAGCAGGCCAGGCCCATGTGGTCCTGGTGGAAGGCGGCGCGGTTGCAAAGCACAGCCATGATGAGGATCACGCCGACGGCGGCCGCCAGCACGGCCAGGTAGGGCAGCTGGAGCGGGGGCCGCGCCGCGTGGAAGGCCAACATGACCAGGCACACGAGCACCAGCACGGCCATGAGCATGGTGAGGCTGCTCTGGTTCAGGCGGAAGAAGTAGCGCTGGTACAGCCGCTCCAGTTTGTCCGACGGGAACTTCTTGGAGCGGAATATCTGCAGCAACGCCAGGCAGCAGGCGCCCAGGGACAGCACCGCGCCGGGCCCCGCGCCCGAGCCCGAGTCCGCCGAGCTGCCGCCATCCCCGGACCCCTCGCCGCCCTCGACGGCGCCGGCCTCCAGCTCGTCGGCCGCGCGCCCCTTGCCCCGCCGCTCCTCCAGACCCACCTCCACCGAGCGAGGGCGCACCTCCGTCCCGCCCGCCGAGGCAGCCGCCGCCGCCGAGCCGCCGCCGCCGCCCGCAGGGGGCGCCCGGGTGCTGCCCCCGCTGGCCGCGCCCCGCCGCTGCCGGCGGCTGCCGCGACCGCAGTCGTCGCCGCCGCGCTCCTGCCAGGCGGACTTGGAGCGGAAGCTGAAGCCGAAGCCCCCGGCCAGGGGGTCGTCACCGCTCAGCGGAGGATCGTCGTCGTCGTCGCTGCGCCAGCGGCTGGCCAGGCGCTGCTGCTGCTGCGGGGTCACCGCCCCCCCGGGTTTCTTGGTGGAGCCGCGGGCAGAGCCCCCGGGGGCATGGGGGTAGCCATTCGCGCGGGAATCGGCCTCGCCCCACGCAGAGCGGTGTTCGGGGCCTCCCCGGGGCGCCGGCGCCGCAGTCTTCTGCGCCGCGTAGCCCGGGGGGCTCACGCTTTTGGAGCCGGACATCCCCCCCTCGGCCTCGTCGTCTCCTTCCTCCTCCCCCGGAAGCCGGGCCGGGGGTCTCCAAGGGGAGGGCGGACGGCCGAGCAGGGGGACCAGGCTAGGGTCACACGTCGGGGGCGGCCCGGGGCCCTGCGCTGCAGCGGGGCATCTTGGCACCCCCGTCCTGAGCGGAGGAGGAGGGCACAGCCCCGAGGTGAGAAGTAGCTGAGGATCCGCGTCAGAAGTCCCAGGTCCGAAATGGAGTTGCCTCCGAGGTGGGGTCGCAGGGACTGGTCTGGCTGCTGCTGCGCCGCACGCGGAGAGACGTCCGGGATCCTGGCTCGCGTCGAGCTCGACGAGGGCCGGAGTTGCGGACGAGACGGGACGGAGTGGTGTCCTTGCGGGCGGTGCCTCCTCGGGCCGGCAGTGCCCGGGCGCGGCGCTCGCTGATTCCGCCTAAGCGGAGCCCAGCTGCTCTCGGGGCTCGGCGGCGGCGAGGGCGGCTCGGCGGGGGTCCCGGCGAAGAGACACTGCGGGTGCGCTTTCCTCGCAGCGGACTGGGAGCGACTGGGAGGTGCGGGCGCCAGCCAGCATTATTTTCTTACGAGGGGTGGGGAGGTGGGATGGGAGGTGGAGAGGACGGGGGAGGGGGCGACGGGCGGAGCAACAGCTCCGGAGCCCCGGGGGGGAGGGTCCTGGAGCCCGGGGGGGCCGTTGCCCGCATCCCCCACCTCTCGCGGCGAGAGTGGATGCGTGGCCCCGGCGAAAGCCGAGCCGAGCCTTCGGCGCGTCCGCGCAGGGGGCGGGGTCCGGGTCAGGGACCGGCTCCTGCGGTGCGGCCCTTCCCCTCTCGCCTCTCCCTTTCCCGCAAACGGAGCGGGGCCGGCCGGGACCTGCCGGCCCGGAGAGCTGTCGCGCCCGCTTCGCAAGCCCCAAGCTCCTCGTCGCCGGCTGCGGGCCCACCGCGGCCGGCGCGGAACGACTAGGCGGAGGACGGAATCCGGCGCAGCGCTGCCGCGGTTCTGCCCCGACGCAGGCAGGCTTCTCCCGGGGAGTAAGGCATCCAGAGATCCAGCGCCGGGGCTCAGAAGCAGCCGGCCCAGAGGGGCCCGCCTGAGAGCCGCGGCGCCCGAGAGGCGCTCCGGGGGGGCCCGCGGGAGCCCGGCTCAGGGCGCGCCATGCACGCTTCGGGCCCTGCGCCGCTCCGGCCGCTCGCGCCGCTCCTCCCTTCTCGCCCGCTCGCCGCCGCCGGAGAGCCCTCCGCATCCCCTCCTCCCGCTGCCTCCCCGCCCCCCGCGCCGCCCGGGCCTCGGCTCACAGCCGCGCGAGGCCGCCTCCGCCCCCGGCCTGGCCATGGCCCCAGCCTCGGCGCCCC
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CTGTGCTTAGGTAAGGGTGAGAGAATAGAGGAGGAAAAACACATACACCTTGGGATTTGTGCATCCATGGAGGTTACACTGGACAGACAGCAAAACAAGTGGACACTGGAAAATGAATAAGTGCTCCACTCTGTGCCTCTGACTCTATTGTTAATCATACAGAAGACCACGAGGTCAGTGTGGCTGGAATGGAAGAAGAAGGTTCCTTGCAGGGGTACAGCTTGGGGCAGAGGACGTTAGAAGTGGAAGGGACATAAACATTCCTCTCATTCTCTAGAAAAGGTAGCAAAGGCCCAGAGAGCTTGTGTGTCCCCTCCGTCCCAGTCACAGAGCACCCTGCAGGTTCAGCTAGAGCCCAGAGCCCTGAAACCCATAACAGTGCTATTCTCTATGGAAGAATACTATGTCCAGGAAGCCAGGGGACACAGGAGAGCAACTCAAGAAAGATGCGGTACTCAAGAGGATAAAAGTCTAAGAGAAGGCACTAGAAGAGGGGAGACAGAGGAAGGCAATGACAATGGAAAACCCTTAAGAGGTTCTATTCGAGAAGGCAGACACCAGTGGGCAGATGTGTGCACTGGGGTCCAAGGTGAAGAGACTTGCCTGTAGCAAGGGCCCAGTGGACTCTCACAGTGGAGCAGCATGCAAACAAGCAGGTTCAGAAGCAATCATGGATGAGGACCAGGAAACCAGACCACAGGACACTAAAGGGAGATATGGTATGGATGGCAGGGGGGCTCCTCTCACCCTGAGGTCAGGATAGCCAACATGCCCCTCTCACAGAAGCCTTTAAGAGAGTCACCAGCTAACCAGGCAAAAGTTGTATTTCTTCCTGAACCTGCAGTTCTAGACTCACCCAACAAATCCCAGCAGGGATAAAATGTCCCTACCACAAGCAATGACCAGGGGCACCCACTTGAAGGGGTCATGATGTTCAACAACAGCTTTCTGCTCAGGCCGGAAGGGGAATTGCCACCACACACATCTCGGAGGCTCCTTCCCACTTTAGCGAAGGGCAGGTTTTTGGCTTGGGGCGCTCTGCTAACTGAAACAAACTTGTCAGTCCTTCTGCAAGTTCAGGGATATCTCCAGCTACCAAATCCCCAGCCTTAGACAGGTGGCAGGCTCATGCTACCTCCTCCTTACCACTGAGCAAGGGGTGCAGGGTGTCCCCTCACCAACCCTCTATCCAGGGCTGGATTAACAAAGCAGCAGTGGCACTCACGAGGGGGTGGCTGCTAGAGGGTCCAGCCACTTTCGTTAGGGGCCTTTTGTATATAGGAACAGAAGCTCAGGAAGAGATGGGAAACACTCCTTATAATTTTCTCCTCCAACCTTCCTCACTGCATTCCCACAGTGATGGCTACAGTTCAGTACACGTTATCTAAGGGGCAAGGAACACTGCAAACGACACAAGGGCACTCTTTTTGTAAATGAAGCCGCTGGGGCTCAGAGTGGGGTAAGAAGCTCCCAAATAGCCTACATGGCCGAGCCCTGTCTCTCTGGCTCTTTTCACCATTCGAAAGGGTGAGGGTGGGATCCCTTTCTTTGGAGTCCAGCTGAGGCCTGCCCGCCCCGCAATCCAGTCCCGGTGGCCAGGTCGGCCCCTACCTGCTTCAGCAGGAACTGGTCCTGGGCGTTGGTGCGCAGGGCGATGGCCAGGTGGAGGGCGGACAGGAGCACCCCGCTGAGCACTGCGGCCCGCATGCGCACGGGCAGCAGCGTGTAGATGGTGTAGATGAAGAACACGGTCCACCAGATGCCCTCAGAGGCGCTGCGTGGCTGCGGCAGCAGCAGGCCCACCACCTGGACGGCCAGCACCACGGCGATGAGCGCATAGCAGGCCAGGCCCATGTGGTCCTGGTGGAAGGCGGCGCGGTTGCAAAGCACAGCCATGATGAGGATCACGCCGACGGCGGCCGCCAGCACGGCCAGGTAGGGCAGCTGGAGCGGGGGCCGCGCCGCGTGGAAGGCCAACATGACCAGGCACACGAGCACCAGCACGGCCATGAGCATGGTGAGGCTGCTCTGGTTCAGGCGGAAGAAGTGGCGCTGGTACAGCCGCTCCAGTTTGTCCGACGGGAACTTCTTGGAGCGGAATATCTGCAGCAACGCCAGGCAGCAGGCGCCCAGGGACAGCACCGCGCCGGGCCCCGCGCCCGAGCCCGAGTCCGCCGAGCTGCCGCCATCCCCGGACCCCTCGCCGCCCTCGACGGCGCCGGCCTCCAGCTCGTCGGCCGCGCGCCCCTTGCCCCGCCGCTCCTCCAGACCCACCTCCACCGAGCGAGGGCGCACCTCCGTCCCGCCCGCCGAGGCAGCCGCCGCCGCCGAGCCGCCGCCGCCGCCCGCAGGGGGCGCCCGGGTGCTGCCCCCGCTGGCCGCGCCCCGCCGCTGCCGGCGGCTGCCGCGACCGCAGTCGTCGCCGCCGCGCTCCTGCCAGGCGGACTTGGAGCGGAAGCTGAAGCCGAAGCCCCCGGCCAGGGGGTCGTCACCGCTCAGCGGAGGATCGTCGTCGTCGTCGCTGCGCCAGCGGCTGGCCAGGCGCTGCTGCTGCTGCGGGGTCACCGCCCCCCCGGGTTTCTTGGTGGAGCCGCGGGCAGAGCCCCCGGGGGCATGGGGGTAGCCATTCGCGCGGGAATCGGCCTCGCCCCACGCAGAGCGGTGTTCGGGGCCTCCCCGGGGCGCCGGCGCCGCAGTCTTCTGCGCCGCGTAGCCCGGGGGGCTCACGCTTTTGGAGCCGGACATCCCCCCCTCGGCCTCGTCGTCTCCTTCCTCCTCCCCCGGAAGCCGGGCCGGGGGTCTCCAAGGGGAGGGCGGACGGCCGAGCAGGGGGACCAGGCTAGGGTCACACGTCGGGGGCGGCCCGGGGCCCTGCGCTGCAGCGGGGCATCTTGGCACCCCCGTCCTGAGCGGAGGAGGAGGGCACAGCCCCGAGGTGAGAAGTAGCTGAGGATCCGCGTCAGAAGTCCCAGGTCCGAAATGGAGTTGCCTCCGAGGTGGGGTCGCAGGGACTGGTCTGGCTGCTGCTGCGCCGCACGCGGAGAGACGTCCGGGATCCTGGCTCGCGTCGAGCTCGACGAGGGCCGGAGTTGCGGACGAGACGGGACGGAGTGGTGTCCTTGCGGGCGGTGCCTCCTCGGGCCGGCAGTGCCCGGGCGCGGCGCTCGCTGATTCCGCCTAAGCGGAGCCCAGCTGCTCTCGGGGCTCGGCGGCGGCGAGGGCGGCTCGGCGGGGGTCCCGGCGAAGAGACACTGCGGGTGCGCTTTCCTCGCAGCGGACTGGGAGCGACTGGGAGGTGCGGGCGCCAGCCAGCATTATTTTCTTACGAGGGGTGGGGAGGTGGGATGGGAGGTGGAGAGGACGGGGGAGGGGGCGACGGGCGGAGCAACAGCTCCGGAGCCCCGGGGGGGAGGGTCCTGGAGCCCGGGGGGGCCGTTGCCCGCATCCCCCACCTCTCGCGGCGAGAGTGGATGCGTGGCCCCGGCGAAAGCCGAGCCGAGCCTTCGGCGCGTCCGCGCAGGGGGCGGGGTCCGGGTCAGGGACCGGCTCCTGCGGTGCGGCCCTTCCCCTCTCGCCTCTCCCTTTCCCGCAAACGGAGCGGGGCCGGCCGGGACCTGCCGGCCCGGAGAGCTGTCGCGCCCGCTTCGCAAGCCCCAAGCTCCTCGTCGCCGGCTGCGGGCCCACCGCGGCCGGCGCGGAACGACTAGGCGGAGGACGGAATCCGGCGCAGCGCTGCCGCGGTTCTGCCCCGACGCAGGCAGGCTTCTCCCGGGGAGTAAGGCATCCAGAGATCCAGCGCCGGGGCTCAGAAGCAGCCGGCCCAGAGGGGCCCGCCTGAGAGCCGCGGCGCCCGAGAGGCGCTCCGGGGGGGCCCGCGGGAGCCCGGCTCAGGGCGCGCCATGCACGCTTCGGGCCCTGCGCCGCTCCGGCCGCTCGCGCCGCTCCTCCCTTCTCGCCCGCTCGCCGCCGCCGGAGAGCCCTCCGCATCCCCTCCTCCCGCTGCCTCCCCGCCCCCCGCGCCGCCCGGGCCTCGGCTCACAGCCGCGCGAGGCCGCCTCCGCCCCCGGCCTGGCCATGGCCCCAGCCTCGGCGCCCC
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Task1_train_7467
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A genomic change on Chromosome 3 affects MYLK (myosin light chain kinase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Aortic aneurysm, familial thoracic 7
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GAACTACTATTGCCTTTCCTAAGGAACACATACGGAAAGGAAATACTTGTGTGCCAGAATGTTAATGGCATGAGGGGAGAGAAAAGACTAATATTCCACTCATATCTACAGCTTGGGGATGTCTTACTGGACTCAACTTTCCTGGGAGAGAATTCCAAGATGCTAACAGAGCCCTCACCAAAGGACAGAGACCCCCCAAGTTCAGGATGAGCATTTCAAGGATGTTGAAAGCAATTTCACAATATCTCTAAAGATTTCAAATGTGCATACCCTTTAACCCAGCTCTCCTTCACTTCTGGGAGTTTATCCTATAGATATTCACAGGCATGAGTGAAAAGATGTGTGTACAAGGTTACAAACGATGCTTGTTTGTAAAAGCAAAAGGCTGGAAACCACTCAATCTCTATCAAAAGAAGGCTGCTTAAATGAATTGTGATTTTCTATACAACAAAACCCCACAGAGCTGTGAGAATGAGGAAGCTCACTAGGTAGTGAGATGGGACTAACTCCCATAGCAATTTGCTGAAAAAGCAAAGTAGGTTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGATGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAATCCTATCTGTACAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGAGCCTGTGGTGAGGTGGGAGGATCGCTTGAACCTGGGAGGCGGAGGTTGCAATAAGCCGAGATGGCACCACTGCCCTCCAGCCTCGGCGACAGAGTGAGACTCTGTCTCAAACAACAACAACAACAAACAAACCAAACTAAAAAAGCAAAGTATATGACAGTGAGTATAAGAAGTTACTTTTTGTGTTAAAAGGCAAGAAAATAAGAATATATATATGTGTGTGTGTGTCTGTATACACTTATATTTTCATAAAGAAACTTTGGAAGGATACAGATAAAAGCCAATAAAATTGTTTGTGTTGGTGATGGTTGTAGTGTTTAGGAAAGGATAGACAGGAATAATGGTGGAAATTAGACTTTTCACTGTGTATTTCCTAATATTTTTTGAGGTGATTGTAGCATATATTCTAAAAATTCAGATAAAAAAGGAAACTGTTAAGAATGCAGATGCTGTGGGGGATGCCTGGCTTGCTGATGCCAGTGTGCATGCTTGACTGTATGTGTGTGTGTGTGCATGTGTGTGTGTGCGTGTGTACACGCATGCACCAACAGCTCAGAGGTAAGGGAGGTGGAGGATTCAGGTGCAGAAGAAACAATGAATTCTGCGAAAGGCTTGGCTGGAGGTCATCTGATAATCCCCCTGCCTTTGTACAACCCCATAGGGAAAGCACCACTCTTTAGTGAGTGAGAAGTCCAAAGAGTACAAACAAGAGTAGACCAGGGGCATGTGGAGACACAGGATGGGACTGAGGACCAGAGAGAGGCTTCCATCCTGGATTTCAAGCCCCCAGCCAGGGGCCCCCTTATCTTTCACAGGGAAGTCAGGAAGCTGCCCTGTCCCTCCCCTAAACCACCTTCAGGTGTGAATGCCCCAAATGAAACCAAGGAGCCTAGGGATAGCTTTGGCCCTTTCATGGGGAGATGAGGGCGAGAAAGACACCAGGGTCCTCAAAGATCTACTGGTTTGTTTTGGAAATAAGCACAAGGCTGCAGCTGGGCTGGTGCTCAGAGGCTCAGGGCCAGCACTGTGCACAGACCTTCGGTTCTGTTTGGTCAGGCCTGGCTGTATGGCTGGTGAGCATCTTACATATCACACTCCTGTCTGCAGTGCTTTCCATCTTGGGGCAGAGGTGGCTGGGGTAGGGCAGTAGGGGAGACACGTTTGGGGGCTCCCTGTGGTGCCCACGCTGCTGGCAGTGGGCCACTCACATCTCCAGGACCATGACGATGTTGGCCTTTTCTTCAAAGGCATCCACACACTGGACCAGCTTAGGGTGGTGGAGGCAGTTCATGATGCTAATCTCCTGCCGGATATTCTCTTTCTCTTTTGCTGAATATGCCTTGAAGAACTTCCCTGCCCAGACTTTTCGAGTTTTCTTTTCTACAAGTCGAAAGACCTGTCCAAATTTCCCACTGCAAATGAAAGGGGGAGGAGAGAAAAGCCACATTTAGCCAAGCTTTCCGCTAACTTGGGGTTGGCAAATTATGGCCCATGGGACAGATCTGGCCCACCTCCTTTTATAAGTAAGGTGTTACTGGAGCACAGCCCTGCCTGGCTGTTTGCATGTTGTCTATGGCAGCTTTTGTGCTACAGTGGCAGAGCTAAAGGCATATCGCCCATAAAATCTAAGATATCAGCCTTTATGAAAGGCCCAGACTCCTGCTCTAGAGCAATGAGGCACATTTGTTTTTTCTTATCTTTAAACATTTTTTTTTTTTTAGAGATGGGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAAGCGTGAGCCACCACACCTGGCCTTTGAAGCACATTTCTAATGTTGACAAGCCTACTGTCAACTTTGGCTGATGGCATCTCTTCCCCTCCCTGCAGTGGAACCCATGAAGATGGGTGGAGACAGCCCTTCCCAAATGCAGAGTATTACTGAGCAGTTGCCTTCCTTCCTTCCACTCCCTACCACTGACCCCCTGGTGATGGCCCAGGCAGGGTCCTGCTTCCTACTGCTGAGAGAGGGGAGAGTGGGGCTCCTCTGTGATGGCACTGACTTCTTTCTGACACTGTTACCCAGTTTGCATCACTCCTTCATTTCCCAGAAACCACTGGAAATACAAGTGGAGTCCCACTCCTTTCTCTCCCACCTCTTCTATTCCTCCAGGGACAGCGTAAGGGCAGATGAACAGCTTGGCTCAGGGTTGGGGTCTGAGCCCACTCTATCCTCCATGCCCTAGGGAGAAGCCAGAGTAAGCAGTGCGAGCCAAGTTCATGAGGGAGCTTGATGACTGCTGCGCGTTTAATGGAGCACTAACGCAGGCATTGCTTTACAGTGAGCACTGATCAGGCTACACTGACTTCTGTGGATCAAATGGAAGGGGTGCCAAAGATAATCTGATCCAGTCCTCTCATTTTATTTTATTTTAAAAATTATTTTATTTTATTGTTTTTAAGTTCCAGGGTACATGTGCAGGATGTGTACGTTACGTAGGTAAACGTGTGCCATGGTGGTTTGCTGCACCTAACACCCCACCATCTAGGTATTAAGCTCAGCATGCATTAGCTCTTCTCCCTAATGTTCTGCTCCCCGCACCCCCTGCTCTCCCCTGACAGGCCCCAGTGAGTGTTATTCCCCTCCCTGTGTCTCATTTTGGTCCTGGGCTCTGAACAGAGGCACAGAAAAGGAAGGACTTGCCCACAGCCTTTGCAGAGTTGGGGCAGTGTAGGACCGCATGGGCAACTCTGCAGAGAGTCCTGGGTGAGTGAGTGATGCTTTCGTGGGTCAGTCCTTTGGATCCTGCAGGACTCTCAGTCTGGGGAGGAGGCAGGCCCCAGGGAGCAACAGGAAGCTGAGGCACTGAATCTAACTGTGAGACCCGCACCACCCTCACCCTGGGAGCCCAGAGGCAACTTCCCACTCCACTTACGATCCTAATCTCTCCTCAATGTCGTAGAAGTCAGATACTTTTTGTTCAGTATTGATTGTCACTGTCCGGTAATCAACCTCGGGCTCCTTCTCATCTGTGGGGCACAGGTCAGGGTTGGTGTGAGTCTCAGATGCCCCCACTCAGCCCCCTCCACCCCAAGAGCCTGACCCGAAGACAGGGGCTGCACTCACCATCATCTGACACCTCCACTTCATCCTTCGGCTCTGGGGGGGGCACAAGGAAGGACAGAGAGGACACAGGTGATTAGTACTGAAGGCCCACTGAGAGCAAGATGTGCTGGGGGCCCTGCCAGGCCTCAGCCTCCCCAGGCAGACGACTACCAGGTCCAGAGCTCTGGGCATCCCCTGGGGCTGGTCAGTCCATATAGCAAATAGGGCCCAGTGCAGACTGGCAGGTGCCAGCCTCCTCCCTCCACTCAGCTCCACTTC
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GAACTACTATTGCCTTTCCTAAGGAACACATACGGAAAGGAAATACTTGTGTGCCAGAATGTTAATGGCATGAGGGGAGAGAAAAGACTAATATTCCACTCATATCTACAGCTTGGGGATGTCTTACTGGACTCAACTTTCCTGGGAGAGAATTCCAAGATGCTAACAGAGCCCTCACCAAAGGACAGAGACCCCCCAAGTTCAGGATGAGCATTTCAAGGATGTTGAAAGCAATTTCACAATATCTCTAAAGATTTCAAATGTGCATACCCTTTAACCCAGCTCTCCTTCACTTCTGGGAGTTTATCCTATAGATATTCACAGGCATGAGTGAAAAGATGTGTGTACAAGGTTACAAACGATGCTTGTTTGTAAAAGCAAAAGGCTGGAAACCACTCAATCTCTATCAAAAGAAGGCTGCTTAAATGAATTGTGATTTTCTATACAACAAAACCCCACAGAGCTGTGAGAATGAGGAAGCTCACTAGGTAGTGAGATGGGACTAACTCCCATAGCAATTTGCTGAAAAAGCAAAGTAGGTTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGATGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAATCCTATCTGTACAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGAGCCTGTGGTGAGGTGGGAGGATCGCTTGAACCTGGGAGGCGGAGGTTGCAATAAGCCGAGATGGCACCACTGCCCTCCAGCCTCGGCGACAGAGTGAGACTCTGTCTCAAACAACAACAACAACAAACAAACCAAACTAAAAAAGCAAAGTATATGACAGTGAGTATAAGAAGTTACTTTTTGTGTTAAAAGGCAAGAAAATAAGAATATATATATGTGTGTGTGTGTCTGTATACACTTATATTTTCATAAAGAAACTTTGGAAGGATACAGATAAAAGCCAATAAAATTGTTTGTGTTGGTGATGGTTGTAGTGTTTAGGAAAGGATAGACAGGAATAATGGTGGAAATTAGACTTTTCACTGTGTATTTCCTAATATTTTTTGAGGTGATTGTAGCATATATTCTAAAAATTCAGATAAAAAAGGAAACTGTTAAGAATGCAGATGCTGTGGGGGATGCCTGGCTTGCTGATGCCAGTGTGCATGCTTGACTGTATGTGTGTGTGTGTGCATGTGTGTGTGTGCGTGTGTACACGCATGCACCAACAGCTCAGAGGTAAGGGAGGTGGAGGATTCAGGTGCAGAAGAAACAATGAATTCTGCGAAAGGCTTGGCTGGAGGTCATCTGATAATCCCCCTGCCTTTGTACAACCCCATAGGGAAAGCACCACTCTTTAGTGAGTGAGAAGTCCAAAGAGTACAAACAAGAGTAGACCAGGGGCATGTGGAGACACAGGATGGGACTGAGGACCAGAGAGAGGCTTCCATCCTGGATTTCAAGCCCCCAGCCAGGGGCCCCCTTATCTTTCACAGGGAAGTCAGGAAGCTGCCCTGTCCCTCCCCTAAACCACCTTCAGGTGTGAATGCCCCAAATGAAACCAAGGAGCCTAGGGATAGCTTTGGCCCTTTCATGGGGAGATGAGGGCGAGAAAGACACCAGGGTCCTCAAAGATCTACTGGTTTGTTTTGGAAATAAGCACAAGGCTGCAGCTGGGCTGGTGCTCAGAGGCTCAGGGCCAGCACTGTGCACAGACCTTCGGTTCTGTTTGGTCAGGCCTGGCTGTATGGCTGGTGAGCATCTTACATATCACACTCCTGTCTGCAGTGCTTTCCATCTTGGGGCAGAGGTGGCTGGGGTAGGGCAGTAGGGGAGACACGTTTGGGGGCTCCCTGTGGTGCCCACGCTGCTGGCAGTGGGCCACTCACATCTCCAGGACCATGACGATGTTGGCCTTTTCTTCAAAGGCATCCACACACTGGACCAGCTTAGGGTGGTGGAGGCAGTTCATGATGCTAATCTCCTGCCGGATATTCTCTTTCTCTTTTGCTGAATATGCCTTGAAGAACTTCCCTGACCAGACTTTTCGAGTTTTCTTTTCTACAAGTCGAAAGACCTGTCCAAATTTCCCACTGCAAATGAAAGGGGGAGGAGAGAAAAGCCACATTTAGCCAAGCTTTCCGCTAACTTGGGGTTGGCAAATTATGGCCCATGGGACAGATCTGGCCCACCTCCTTTTATAAGTAAGGTGTTACTGGAGCACAGCCCTGCCTGGCTGTTTGCATGTTGTCTATGGCAGCTTTTGTGCTACAGTGGCAGAGCTAAAGGCATATCGCCCATAAAATCTAAGATATCAGCCTTTATGAAAGGCCCAGACTCCTGCTCTAGAGCAATGAGGCACATTTGTTTTTTCTTATCTTTAAACATTTTTTTTTTTTTAGAGATGGGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAAGCGTGAGCCACCACACCTGGCCTTTGAAGCACATTTCTAATGTTGACAAGCCTACTGTCAACTTTGGCTGATGGCATCTCTTCCCCTCCCTGCAGTGGAACCCATGAAGATGGGTGGAGACAGCCCTTCCCAAATGCAGAGTATTACTGAGCAGTTGCCTTCCTTCCTTCCACTCCCTACCACTGACCCCCTGGTGATGGCCCAGGCAGGGTCCTGCTTCCTACTGCTGAGAGAGGGGAGAGTGGGGCTCCTCTGTGATGGCACTGACTTCTTTCTGACACTGTTACCCAGTTTGCATCACTCCTTCATTTCCCAGAAACCACTGGAAATACAAGTGGAGTCCCACTCCTTTCTCTCCCACCTCTTCTATTCCTCCAGGGACAGCGTAAGGGCAGATGAACAGCTTGGCTCAGGGTTGGGGTCTGAGCCCACTCTATCCTCCATGCCCTAGGGAGAAGCCAGAGTAAGCAGTGCGAGCCAAGTTCATGAGGGAGCTTGATGACTGCTGCGCGTTTAATGGAGCACTAACGCAGGCATTGCTTTACAGTGAGCACTGATCAGGCTACACTGACTTCTGTGGATCAAATGGAAGGGGTGCCAAAGATAATCTGATCCAGTCCTCTCATTTTATTTTATTTTAAAAATTATTTTATTTTATTGTTTTTAAGTTCCAGGGTACATGTGCAGGATGTGTACGTTACGTAGGTAAACGTGTGCCATGGTGGTTTGCTGCACCTAACACCCCACCATCTAGGTATTAAGCTCAGCATGCATTAGCTCTTCTCCCTAATGTTCTGCTCCCCGCACCCCCTGCTCTCCCCTGACAGGCCCCAGTGAGTGTTATTCCCCTCCCTGTGTCTCATTTTGGTCCTGGGCTCTGAACAGAGGCACAGAAAAGGAAGGACTTGCCCACAGCCTTTGCAGAGTTGGGGCAGTGTAGGACCGCATGGGCAACTCTGCAGAGAGTCCTGGGTGAGTGAGTGATGCTTTCGTGGGTCAGTCCTTTGGATCCTGCAGGACTCTCAGTCTGGGGAGGAGGCAGGCCCCAGGGAGCAACAGGAAGCTGAGGCACTGAATCTAACTGTGAGACCCGCACCACCCTCACCCTGGGAGCCCAGAGGCAACTTCCCACTCCACTTACGATCCTAATCTCTCCTCAATGTCGTAGAAGTCAGATACTTTTTGTTCAGTATTGATTGTCACTGTCCGGTAATCAACCTCGGGCTCCTTCTCATCTGTGGGGCACAGGTCAGGGTTGGTGTGAGTCTCAGATGCCCCCACTCAGCCCCCTCCACCCCAAGAGCCTGACCCGAAGACAGGGGCTGCACTCACCATCATCTGACACCTCCACTTCATCCTTCGGCTCTGGGGGGGGCACAAGGAAGGACAGAGAGGACACAGGTGATTAGTACTGAAGGCCCACTGAGAGCAAGATGTGCTGGGGGCCCTGCCAGGCCTCAGCCTCCCCAGGCAGACGACTACCAGGTCCAGAGCTCTGGGCATCCCCTGGGGCTGGTCAGTCCATATAGCAAATAGGGCCCAGTGCAGACTGGCAGGTGCCAGCCTCCTCCCTCCACTCAGCTCCACTTC
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Task1_train_7468
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A change on Chromosome 3 affects gene UMPS (uridine monophosphate synthetase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Oroticaciduria
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AACAGCACATACTTTCCCAGTATGTTTGTATTTAAACTTCATGAAAAGTAATCCATGGATAAAATTACTCTCATAAAGCAGTGTAAACACCTCAGAGAGATATTTTTGTGGGTTCATGGCAATAGATTATCAGGTGACTTGCTTTAAAACCCGAAAATTTGTCCAGGCACCATGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGTAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACGTGGTAAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTATGCACCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCAGGAGATGCGCTTGAACCCAGGAGGTGGAGGTTGCAATGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACCCTATTTCAAACAAAAAAAACCCTGAAAATTGGCCAGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGGCAAGGTGGGAGGATAGCTTGAGCCCAGGAGTTTGAGACCAGCTTTGGCAACGTTTGTCTCTACAAAAATAAAAAAAGAATACAAAATTAGCTGAGTGTCACAGTTACATGGGAGGCTGAGGCAGGAGGATGCCTTGAGCCCAGGAGCTGAAGGTTGCAGTGAGCTATGATTATGCCACTGCACTGCACCCTGGGTGACAGAGCAAGACTGTCAAAAAATAAATAAATAAAACCTGAAAAGCAATCTTAATGATAGTAAGGAATTAATGGGCTTTTTTGTTTATGTTGGTTTATTAGTGTTTTGTTACTTTTTTTAAAACAAATCCTTCTTCTACAGATGCATTCTGAAAATTTTTATGATTAAAAAAAAGAAACATATTAGTTGAGTTTTTGTGGCGTAAGGGCAGTGTTAGTTTTTCTGTTTTTGTTTTTTGTTTTTTTGAGACAAGGTCTCACTCTGTTGCCCAGGCTGGTCTTGAACTCCTGGTCTCAAGCCATCCTCCTGCCTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCAGCTGAGACTTTCTGAGCTAAAAAAAAACTGTATGAATCCCTACCCATAAGAAAACTCTTATTTCTATTATTTTATGTTTTAAAAACTGTTTCTATGAAATTATGCATTTTTAAATATACTATAAATACTTGCAGTCTTGTGTTCTAGCTTAAGCTGATTCAGTTAAACTTACCAGTTGTTCAAGAAGCGGAAAGGATTTGATGAGTCTAAAGTCTACAGCCCAAGTTATTTACGTTTTGTAGATTATCTGAAAATAGTCTAGTGGGATTTGGGTAGAGAAGTATATATTTAATCACATTGCATTATATAATTCTTTAGATTGTAGTAATGGGTCTAAATGATTGCTGAATATTTTTCCTTCTGAATTTGTGTCTTCAAAAAGTCAATTATTTGGCTGATCTTGAATAGTGAACTTAAAATACTTTGATGGAAAAAGGAATTATTTCATTCATGATACTGGATTATTCTGTTTCATAACTTTCCTTGATCTAGGTGATCTTGCTGTAAGAAACTCTGTATTTAGGCTGGACGTGGTGGCTCACACCTATAATCCTAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTAGACAACATAGTGAGACCTCATCTCTATGATAAAACAGATTTTTTTAAAGTAAAAAAAAAACCTCTCTATTTGAAAATTTGATCATAAAACACATTAAGCAGTGTTTATAATGTGAAATAATTTACTTGATTTACTATAAATATACTGTATGTGTAACTGGCAAGTTTGGTATACAGAGTTGGCTTTATACATAAATATACTGTATGTGCAACTAGCAAGTTTGGTATACAGAATTGGTATACACATATACTGTATGTGTAACTGGCAAGTTTTGTATACAGAGTGTGTGTACGTATATACGCACATATACATACATATTTAAATTTGGAATCAGCAAAATTTTTTCTTTTCTAGGAACTAAGCGTCTTGTAGAAGGAACTATTAATCCAGGAGAAACCTGTTTAATCATTGAAGATGTTGTCACCAGTGGATCTAGTGTTTTGGAAACTGTTGAGGTTCTTCAGAAGGAGGGCTTGAAGGTCACTGATGCCATAGTGCTGTTGGACAGAGAGCAGGGAGGCAAGGACAAGTTGCAGGCGCACGGGATCCGCCTCCACTCAGTGTGTACATTGTCCAAAATGCTGGAGATTCTCGAGCAGCAGAAAAAAGTTGATGCTGAGACAGTTGGGAGAGTGAAGAGGTTTATTCAGGAGAATGTCTTTGTGGCAGCGAATCATAATGGTTCTCCCCTTTCTATAAAGGAAGCACCCAAAGAACTCAGCTTCGGTGCACGTGCAGAGCTGCCCAGGATCCACCCAGTTGCATCGAAGCTTCTCAGGCTTATGCAAAAGAAGGAGACCAATCTGTGTCTATCTGCTGATGTTTCACTGGCCAGAGAGCTGTTGCAGCTAGCAGATGCTTTAGGACCTAGTATCTGCATGCTGAAGACTCATGTAGATATTTTGAATGATTTTACTCTGGATGTGATGAAGGAGTTGATAACTCTGGCAAAATGCCATGAGTTCTTGATATTTGAAGACCGGAAGTTTGCAGATATAGGAAACACAGTGAAAAAGCAGTATGAAGGTAAGTGTATTATTCAGGAATCTGCAAGAATCAGAAATCCAGCTTAAACTGAAGAAGAAAAAGGAAATGCTCATGTCATTGAAAGTCCATTCATAGAGCAGGCTGTCAAGCGTGGTTGGATCCAGGAGCTCAAGTGATATCTTCATGACTTGCTTTCTCTCCATCTCTCAGCTCTGCTTTCTTCTCTGTTGACTTCTTTCTCAGGTAGGCATACTCTGCATGCTCACCCCAAACCAATCACTCTAGCTTGGGATGTAGAATACCTTCATTAACTAGCCTGGGCAATTTGCTCTGCAACTGTGAGGTTGTTAACTCTGTATGACCTTCTTGAAATAAGAACCAGTCAGGGATAATTTCCTTAAAGAAAATGGATGTGCTAGTACCAGAAGAAGGGTATGTGCCTGGGCAAGCAAATTTGACAGATGTCCTTGGCAGAATATGATGTTTTGAATGAAAATTCCACATAAAGGAAACAATGAAAAAGAAATATAAAATGGTAAGATTTATTTGTAGCAGAAAAAGTTCTATTGATAAACATTATTTAAAGATTTTTCTTTTATCAAATAGGGACTCAAAGTAGTGCATGTGTTGGTTGAGAAAAATGCTTAGTTCTACTGCCTATTCTATGCAAATTTCTGTCTATGTTTTTACAACTGTGTGATCAGACTATATTTAATGCATTTTTCACTTAACCTGGTAACAGATATTTGGTTGTGTCATATAACATTTTTTGTAGGCATCTTTGAGGTAACTTTTCTTTAATGTATGCATGTTCATAAGCTATTTCTTTAAAATAGATTTGTCTTTAAGTGACTTCTTCATGTGCTTAAGATGTCCTGCCCTCATCACATTGCCTAGCTTACTTTAGCTGATTGACTGACATAAGAGTTTTATACAAACTTTCTTCAGCTCTGCATAGAGTTTTTTCGAAAATCAGGCTTGTTACTGTCCGCTTTTAAAAGGAATATAGTTGCCTATTGAAATTAGATAGCTAAGGAGATCTAAGGAACACGTAGAAATATTGAGCGATAGTAAAGCTGCTGAGAGACCCCTGCAGAGTGAAAACTTGTCATCTTCAAGAAGAATTTTATTTTTATTATTATTTTTTTTGAGATGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGACTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCGCCACCACACCTAGCTAATTTTTTTGTATTTTTGGTAGAGATGGAGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTAAACTCAAGCAATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCACCATGCCCA
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AACAGCACATACTTTCCCAGTATGTTTGTATTTAAACTTCATGAAAAGTAATCCATGGATAAAATTACTCTCATAAAGCAGTGTAAACACCTCAGAGAGATATTTTTGTGGGTTCATGGCAATAGATTATCAGGTGACTTGCTTTAAAACCCGAAAATTTGTCCAGGCACCATGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGTAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACGTGGTAAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTATGCACCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCAGGAGATGCGCTTGAACCCAGGAGGTGGAGGTTGCAATGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACCCTATTTCAAACAAAAAAAACCCTGAAAATTGGCCAGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGGCAAGGTGGGAGGATAGCTTGAGCCCAGGAGTTTGAGACCAGCTTTGGCAACGTTTGTCTCTACAAAAATAAAAAAAGAATACAAAATTAGCTGAGTGTCACAGTTACATGGGAGGCTGAGGCAGGAGGATGCCTTGAGCCCAGGAGCTGAAGGTTGCAGTGAGCTATGATTATGCCACTGCACTGCACCCTGGGTGACAGAGCAAGACTGTCAAAAAATAAATAAATAAAACCTGAAAAGCAATCTTAATGATAGTAAGGAATTAATGGGCTTTTTTGTTTATGTTGGTTTATTAGTGTTTTGTTACTTTTTTTAAAACAAATCCTTCTTCTACAGATGCATTCTGAAAATTTTTATGATTAAAAAAAAGAAACATATTAGTTGAGTTTTTGTGGCGTAAGGGCAGTGTTAGTTTTTCTGTTTTTGTTTTTTGTTTTTTTGAGACAAGGTCTCACTCTGTTGCCCAGGCTGGTCTTGAACTCCTGGTCTCAAGCCATCCTCCTGCCTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCAGCTGAGACTTTCTGAGCTAAAAAAAAACTGTATGAATCCCTACCCATAAGAAAACTCTTATTTCTATTATTTTATGTTTTAAAAACTGTTTCTATGAAATTATGCATTTTTAAATATACTATAAATACTTGCAGTCTTGTGTTCTAGCTTAAGCTGATTCAGTTAAACTTACCAGTTGTTCAAGAAGCGGAAAGGATTTGATGAGTCTAAAGTCTACAGCCCAAGTTATTTACGTTTTGTAGATTATCTGAAAATAGTCTAGTGGGATTTGGGTAGAGAAGTATATATTTAATCACATTGCATTATATAATTCTTTAGATTGTAGTAATGGGTCTAAATGATTGCTGAATATTTTTCCTTCTGAATTTGTGTCTTCAAAAAGTCAATTATTTGGCTGATCTTGAATAGTGAACTTAAAATACTTTGATGGAAAAAGGAATTATTTCATTCATGATACTGGATTATTCTGTTTCATAACTTTCCTTGATCTAGGTGATCTTGCTGTAAGAAACTCTGTATTTAGGCTGGACGTGGTGGCTCACACCTATAATCCTAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTAGACAACATAGTGAGACCTCATCTCTATGATAAAACAGATTTTTTTAAAGTAAAAAAAAAACCTCTCTATTTGAAAATTTGATCATAAAACACATTAAGCAGTGTTTATAATGTGAAATAATTTACTTGATTTACTATAAATATACTGTATGTGTAACTGGCAAGTTTGGTATACAGAGTTGGCTTTATACATAAATATACTGTATGTGCAACTAGCAAGTTTGGTATACAGAATTGGTATACACATATACTGTATGTGTAACTGGCAAGTTTTGTATACAGAGTGTGTGTACGTATATACGCACATATACATACATATTTAAATTTGGAATCAGCAAAATTTTTTCTTTTCTAGGAACTAAGCGTCTTGGAGAAGGAACTATTAATCCAGGAGAAACCTGTTTAATCATTGAAGATGTTGTCACCAGTGGATCTAGTGTTTTGGAAACTGTTGAGGTTCTTCAGAAGGAGGGCTTGAAGGTCACTGATGCCATAGTGCTGTTGGACAGAGAGCAGGGAGGCAAGGACAAGTTGCAGGCGCACGGGATCCGCCTCCACTCAGTGTGTACATTGTCCAAAATGCTGGAGATTCTCGAGCAGCAGAAAAAAGTTGATGCTGAGACAGTTGGGAGAGTGAAGAGGTTTATTCAGGAGAATGTCTTTGTGGCAGCGAATCATAATGGTTCTCCCCTTTCTATAAAGGAAGCACCCAAAGAACTCAGCTTCGGTGCACGTGCAGAGCTGCCCAGGATCCACCCAGTTGCATCGAAGCTTCTCAGGCTTATGCAAAAGAAGGAGACCAATCTGTGTCTATCTGCTGATGTTTCACTGGCCAGAGAGCTGTTGCAGCTAGCAGATGCTTTAGGACCTAGTATCTGCATGCTGAAGACTCATGTAGATATTTTGAATGATTTTACTCTGGATGTGATGAAGGAGTTGATAACTCTGGCAAAATGCCATGAGTTCTTGATATTTGAAGACCGGAAGTTTGCAGATATAGGAAACACAGTGAAAAAGCAGTATGAAGGTAAGTGTATTATTCAGGAATCTGCAAGAATCAGAAATCCAGCTTAAACTGAAGAAGAAAAAGGAAATGCTCATGTCATTGAAAGTCCATTCATAGAGCAGGCTGTCAAGCGTGGTTGGATCCAGGAGCTCAAGTGATATCTTCATGACTTGCTTTCTCTCCATCTCTCAGCTCTGCTTTCTTCTCTGTTGACTTCTTTCTCAGGTAGGCATACTCTGCATGCTCACCCCAAACCAATCACTCTAGCTTGGGATGTAGAATACCTTCATTAACTAGCCTGGGCAATTTGCTCTGCAACTGTGAGGTTGTTAACTCTGTATGACCTTCTTGAAATAAGAACCAGTCAGGGATAATTTCCTTAAAGAAAATGGATGTGCTAGTACCAGAAGAAGGGTATGTGCCTGGGCAAGCAAATTTGACAGATGTCCTTGGCAGAATATGATGTTTTGAATGAAAATTCCACATAAAGGAAACAATGAAAAAGAAATATAAAATGGTAAGATTTATTTGTAGCAGAAAAAGTTCTATTGATAAACATTATTTAAAGATTTTTCTTTTATCAAATAGGGACTCAAAGTAGTGCATGTGTTGGTTGAGAAAAATGCTTAGTTCTACTGCCTATTCTATGCAAATTTCTGTCTATGTTTTTACAACTGTGTGATCAGACTATATTTAATGCATTTTTCACTTAACCTGGTAACAGATATTTGGTTGTGTCATATAACATTTTTTGTAGGCATCTTTGAGGTAACTTTTCTTTAATGTATGCATGTTCATAAGCTATTTCTTTAAAATAGATTTGTCTTTAAGTGACTTCTTCATGTGCTTAAGATGTCCTGCCCTCATCACATTGCCTAGCTTACTTTAGCTGATTGACTGACATAAGAGTTTTATACAAACTTTCTTCAGCTCTGCATAGAGTTTTTTCGAAAATCAGGCTTGTTACTGTCCGCTTTTAAAAGGAATATAGTTGCCTATTGAAATTAGATAGCTAAGGAGATCTAAGGAACACGTAGAAATATTGAGCGATAGTAAAGCTGCTGAGAGACCCCTGCAGAGTGAAAACTTGTCATCTTCAAGAAGAATTTTATTTTTATTATTATTTTTTTTGAGATGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGACTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCGCCACCACACCTAGCTAATTTTTTTGTATTTTTGGTAGAGATGGAGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTAAACTCAAGCAATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCACCATGCCCA
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Task1_train_7469
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A variant has been detected on Chromosome 3 in UROC1 (urocanate hydratase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Urocanate hydratase deficiency
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TTCACAGACACCTTCACTGCAGGAGAGAGGACAGCAGGCGTCAGAGACCCTCCAGGGGCACAGACCTGCCCTCAGGCAGGCTGCTCAGCTCAGCACAGACCCTGCCCCGAGCCCACCACTGAGCTAGGACACAAGGTGAGGGAGCCCACCCCACCCCACCCCTGCCTTTGTGAACTTGGGGACCAGCAGTGCCAGTGGCCCCATGAATTAATAATGCACAGCCGTGCAGCGCACTGCCTGATGCACTCGGTCCCTCCACAAATAGCTATTCAGTGCCTACTATACACCAACACTGAGCAAGGCACCAGGAACAAAGACCGCTGTGGGCCGTGAGGAACACAGGACTGTGTTGAGGGCTCCCCAGGATGGTGGATGCGGGGGCTTTCTGAGGAAGTGGCCATCAAGCTGAGTCTAAAGGCTGGGAAGGAACCGGACAAGGAAGCTCTGAGGGAACAGCCTTCCAGGCAGAGGGAACAGTCAGTGCAAAGGCCCTGAGGTGAAAATAAACTTGGCCTATGCAGGAGCTACCTGGCCAAGCTCACGGAGTATGTGTGCATGTGAGAGGGCACAGGAGCCAGCCTGACCAGCTCGTGAAAGCAGACTGGTAATTTTCCAGAAATTGTGGGAGCCAGTGGTTAACATAAATATCATTAAAATTTTAAATAAGCTTACACTTTTACCAAATTATATTAAAATGAAGGTAATAGAAATCCCTCACTCCTGTGACTTCACAGCCTTCGACTAGAGTATCTGCCTGGTGGAGATGCCGCAGGGCATGTGCTGCGGGCATGTGGAGCTGGGTCAGCACGCCTGGAAACCAGCCAGGCCTGGAGTCTTTACTCCAGGGTCTTCGTGGGTGCAGCAGCTCAGGGCTTCTTTCCGGAGGGCTGGTCGTTCCCCACTGGCTGCCTGCTGTTCTCACACCAGGGAAGCCCAGGAGACATCTGACCAGACCCCCAGGAGAAGGCCCCTGCTTCCCCTGCCCTCCTGCCTGGGCCCCTGCCCGCCTCCTCCTCCACAGGTGACCACGTCTCCCCTCTGCCTGGCTCTCCTACTCTGAGTCTGTGTAACCTGGGCCCCTGCCCAGCCCACCGAACATGGCCAGCAGCAGGGTGTAAGGGCCCTAGAGATGTGAAGCACACAGCAGAGGCTGGTGAACCACACAGAAAAGCCACCCGACCTGCAGGAAAGCTGCAGAGAGACCGGGGTAAGAACTGCAACAACAGAGGAAGTGTCATAAAATAACCATGAAACAACAACGTCAGACCCACTCAACGAGAACAAAGGTTGGTTAAAACCCAGGCAGGCCATGTAGACATGGAAAAACACAACCCTCTGGCAGAACCAACACTCAGCATCAGCAAAACCCAGGATGAACATGGGGGACCCTGATGCAGAGGAGACCCTTGTGGACCTGGCAGGCGTGGAAGGCTGGCGGGAGCATGTGGAGACAGCTTCATCATGGAAGACAGCAAGAAGGAACTAGAAGCACTGCTGTCAGCACTGCCCTGGCCACGTGGAGGGGGAGGCTGGGTCTGAGAGGGACTGTGGTGTGCTGCGGGCTGCCCAGAAAGCCTGGCCCCGGCCACTGCTGCCTGGCCACCCTAGCCCTGGACCGTCCTGCTTCAGCCGCTTTGAGGGGCTTTCTGTCACTCGCAGCCAGAGGTCCTCACTGGCAGAGCCCAGGACAGCTCTGGAGGGCAGAGGCTTGGTGTGGGTGGGGCCTGTGCCTCCACGGCTGAGAACGACACTTGGGGACCAGGATCTTTGCAACTCACTCAAGTTTCTTTAAGTCCCTTTGTGTTGCCAGCTGAGCACCCACCAGACTCACAAAGTCATCTGCGCCCAGGTTCCCTCCCAGAATTAGCTAGGTGGGCCTGCTATAGAAGCTTGTCTCTATGGAGGCAGAAGCTTTGGGGGGGCCACCCACCCATGGGCATCCCCACCAATGGCGTCACCTCCATCAGCAATGGCTTCCTCCAGCACAGATGTGGCCAGTTCGTCTGTGACCGCCAGGTCCTGGGGGTCCCCCGATGTGCACACCCAGCGGAAAGGCCCAAATCCCTGGGAGAATATGTCCCTGCAAGCACAGATGCCTCCTCACCCTGGGCCCGCTGGCTTGTTGGGGGAGGGGGTGCAGGTGTGAGCATGCCAGGGAGGAGGGCTCAGCATCCAGAAGTCAGGTGTGGAACCCCCTAAGCTGTCATTGGACAGAAAGTTCCAGGGGCCTCCCTGTCCCCTCTCTGTGTCCCAGTGCCCCCAGCCCTCCATCCCTGCCTCCTGGCTGTACCATCTCTAGCTACAGGAGTGGGGAGCTGGGACCTGGGCAAACAGAAATGACCCCAATTGCTGTTACAGATGACAAGAAAATCCATCACCTAAAAGTGACAGTCACATTGAGAGGAGAGTCAACCTGGGGCTGTAGCCTTGGGGAACTCGCCCTAGGTGAGCTTATCTTCCCAGGAGCCAGGCTCCAGGACAGGGCTGTCCTGGGGGGAGGATGCCGTGGCCTGGGCCCTCCCTGGGCTCCTGCACTTGCTAGGCCAGGGGGTGCCTCCTCCTGGGCAGCCCTCCCTCTCCGGAGAGTGCCAGCTGACAGTGCTCAGCCCCTCCCACCTCTGCACCCCACAGTGAGCTTGACAGTAAGTGGCATTTGCCTTTCTCACCTCCATCTCTCTCTCGTCCCATGTGGCACCCACTGAGGACTGGCACATCTTCCAAAAGTCATGTGGTCCCTCCTGCCCCCAGCAGAAAGCCCAGACTTCTCAGCTTGGCCCAGGCTCCTCTCTGGCTCCCGCCCTCATCCCCTGCTTGTCCTGGGCTGCTGGCCTTCCCTAGACCTGCACCCCCATGGCCAGAGAGGCCCACGACCCCCAGGGCCACAGCAGGTGCTGGGCTTCATGATCCAGCCATCAGCCACCCACGAGGGCCTGTGAAGACATATTATTCAGGTGCAGTTGTTTGCCAGGAAGTGGCCTCAGCCTCTAGGCCCCGCAGCCCCCTGTTCTCACTGAGGCCCTGCAGGAGGCGTCTCTCGTCTGCATTTCCTCCTCACCTGCCTGTCTGTGGTGGAAAACCCATGGACAGAGCCTGGCCACTTTGGGGCAGTGTGGAGGTCTCAGCGCATGACCTCAGGGGCGGTCAGAGGCTGAAGCTTCTCCAACCTAAATACCCAGGACGCAGACCCTGAACGGGGCAGGGGTGGCACTGGGCACACTAGATGTGGCAGCCGCCCATCACTCACCCCATGATGTGCTGCACATAGGAAGGGTAGCGGAACTCTGTCCTGCCAGCACCTTTCTTCTCCACATCCGCTCCTGTGGGCAGAGCCCGGACAGTCACCACCCAAGGCAGGACACCCATGGCCACCCTAGATGGCAACTTAAACACAGGGCCCAGAGGGAGGCTGGGGAAGGATGCACAAGGTCTTTTTCATGTAAAAGAAGAGAAAAGCAGGGGCAGCCGTGGCCAGCATGCTGCTGTCTGTGTGGCCAGGTGCAGGATGCATGCGCTTGCCATGGACGCTGTGTCAGCCTCCAGCGCGCCAGAGCCCGCCACCTGCAGGGAGGTAGACAGGGCTGGGGGGGCTTCCCACTGCGGACACTGTGCCTTTTGAACCTCATACCCCATGAAAGAATTGCCCATTTTACAGAAGGAAGTTTCCATCACAGAAAAGGAAAGCTGCAATTTTGGGACTGGAGCTTGCACCTGAGTCTTGTACCTGCTCTCCGTATGGGACTTTATGTTCCTAAAGCACATGGAGAAACTGAGGCCCAGAGAGGCTGAGCCACCTGGCTGGGCCTCAGCATCCAGAAGGCCTGGCAGAGGCACAGTGAAGCCTCGGTCAGGATTTGCTGGGCCACCCATGGCACCTCCGAGTGAGGTGGGAGCCAGTGGCACTGGCCTGAGAGGCTGGGCCCAGGGTGGTGGCCCCTCCCTCCTCCTCCCTCCTCCTTCCTCCTACCTGCTCTCTGGGCCTCCAAGAGGAAGGCATTGCCGTAGTCCCAGAAGAAGAACTTCTCCTCGGCCAACCTGTTGATGGCTGAGACTTGCCTCCTCAGGCTGCAACAAGCCATGGGTCAGCACCACCGCTGTG
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TTCACAGACACCTTCACTGCAGGAGAGAGGACAGCAGGCGTCAGAGACCCTCCAGGGGCACAGACCTGCCCTCAGGCAGGCTGCTCAGCTCAGCACAGACCCTGCCCCGAGCCCACCACTGAGCTAGGACACAAGGTGAGGGAGCCCACCCCACCCCACCCCTGCCTTTGTGAACTTGGGGACCAGCAGTGCCAGTGGCCCCATGAATTAATAATGCACAGCCGTGCAGCGCACTGCCTGATGCACTCGGTCCCTCCACAAATAGCTATTCAGTGCCTACTATACACCAACACTGAGCAAGGCACCAGGAACAAAGACCGCTGTGGGCCGTGAGGAACACAGGACTGTGTTGAGGGCTCCCCAGGATGGTGGATGCGGGGGCTTTCTGAGGAAGTGGCCATCAAGCTGAGTCTAAAGGCTGGGAAGGAACCGGACAAGGAAGCTCTGAGGGAACAGCCTTCCAGGCAGAGGGAACAGTCAGTGCAAAGGCCCTGAGGTGAAAATAAACTTGGCCTATGCAGGAGCTACCTGGCCAAGCTCACGGAGTATGTGTGCATGTGAGAGGGCACAGGAGCCAGCCTGACCAGCTCGTGAAAGCAGACTGGTAATTTTCCAGAAATTGTGGGAGCCAGTGGTTAACATAAATATCATTAAAATTTTAAATAAGCTTACACTTTTACCAAATTATATTAAAATGAAGGTAATAGAAATCCCTCACTCCTGTGACTTCACAGCCTTCGACTAGAGTATCTGCCTGGTGGAGATGCCGCAGGGCATGTGCTGCGGGCATGTGGAGCTGGGTCAGCACGCCTGGAAACCAGCCAGGCCTGGAGTCTTTACTCCAGGGTCTTCGTGGGTGCAGCAGCTCAGGGCTTCTTTCCGGAGGGCTGGTCGTTCCCCACTGGCTGCCTGCTGTTCTCACACCAGGGAAGCCCAGGAGACATCTGACCAGACCCCCAGGAGAAGGCCCCTGCTTCCCCTGCCCTCCTGCCTGGGCCCCTGCCCGCCTCCTCCTCCACAGGTGACCACGTCTCCCCTCTGCCTGGCTCTCCTACTCTGAGTCTGTGTAACCTGGGCCCCTGCCCAGCCCACCGAACATGGCCAGCAGCAGGGTGTAAGGGCCCTAGAGATGTGAAGCACACAGCAGAGGCTGGTGAACCACACAGAAAAGCCACCCGACCTGCAGGAAAGCTGCAGAGAGACCGGGGTAAGAACTGCAACAACAGAGGAAGTGTCATAAAATAACCATGAAACAACAACGTCAGACCCACTCAACGAGAACAAAGGTTGGTTAAAACCCAGGCAGGCCATGTAGACATGGAAAAACACAACCCTCTGGCAGAACCAACACTCAGCATCAGCAAAACCCAGGATGAACATGGGGGACCCTGATGCAGAGGAGACCCTTGTGGACCTGGCAGGCGTGGAAGGCTGGCGGGAGCATGTGGAGACAGCTTCATCATGGAAGACAGCAAGAAGGAACTAGAAGCACTGCTGTCAGCACTGCCCTGGCCACGTGGAGGGGGAGGCTGGGTCTGAGAGGGACTGTGGTGTGCTGCGGGCTGCCCAGAAAGCCTGGCCCCGGCCACTGCTGCCTGGCCACCCTAGCCCTGGACCGTCCTGCTTCAGCCGCTTTGAGGGGCTTTCTGTCACTCGCAGCCAGAGGTCCTCACTGGCAGAGCCCAGGACAGCTCTGGAGGGCAGAGGCTTGGTGTGGGTGGGGCCTGTGCCTCCACGGCTGAGAACGACACTTGGGGACCAGGATCTTTGCAACTCACTCAAGTTTCTTTAAGTCCCTTTGTGTTGCCAGCTGAGCACCCACCAGACTCACAAAGTCATCTGCGCCCAGGTTCCCTCCCAGAATTAGCTAGGTGGGCCTGCTATAGAAGCTTGTCTCTATGGAGGCAGAAGCTTTGGGGGGGCCACCCACCCATGGGCATCCCCACCAATGGCGTCACCTCCATCAGCAATGGCTTCCTCCAGCACAGATGTGGCCAGTTCGTCTGTGACCGCCAGGTCCTGGGGGTCCCCCGATGTGCACACCCAGCAGAAAGGCCCAAATCCCTGGGAGAATATGTCCCTGCAAGCACAGATGCCTCCTCACCCTGGGCCCGCTGGCTTGTTGGGGGAGGGGGTGCAGGTGTGAGCATGCCAGGGAGGAGGGCTCAGCATCCAGAAGTCAGGTGTGGAACCCCCTAAGCTGTCATTGGACAGAAAGTTCCAGGGGCCTCCCTGTCCCCTCTCTGTGTCCCAGTGCCCCCAGCCCTCCATCCCTGCCTCCTGGCTGTACCATCTCTAGCTACAGGAGTGGGGAGCTGGGACCTGGGCAAACAGAAATGACCCCAATTGCTGTTACAGATGACAAGAAAATCCATCACCTAAAAGTGACAGTCACATTGAGAGGAGAGTCAACCTGGGGCTGTAGCCTTGGGGAACTCGCCCTAGGTGAGCTTATCTTCCCAGGAGCCAGGCTCCAGGACAGGGCTGTCCTGGGGGGAGGATGCCGTGGCCTGGGCCCTCCCTGGGCTCCTGCACTTGCTAGGCCAGGGGGTGCCTCCTCCTGGGCAGCCCTCCCTCTCCGGAGAGTGCCAGCTGACAGTGCTCAGCCCCTCCCACCTCTGCACCCCACAGTGAGCTTGACAGTAAGTGGCATTTGCCTTTCTCACCTCCATCTCTCTCTCGTCCCATGTGGCACCCACTGAGGACTGGCACATCTTCCAAAAGTCATGTGGTCCCTCCTGCCCCCAGCAGAAAGCCCAGACTTCTCAGCTTGGCCCAGGCTCCTCTCTGGCTCCCGCCCTCATCCCCTGCTTGTCCTGGGCTGCTGGCCTTCCCTAGACCTGCACCCCCATGGCCAGAGAGGCCCACGACCCCCAGGGCCACAGCAGGTGCTGGGCTTCATGATCCAGCCATCAGCCACCCACGAGGGCCTGTGAAGACATATTATTCAGGTGCAGTTGTTTGCCAGGAAGTGGCCTCAGCCTCTAGGCCCCGCAGCCCCCTGTTCTCACTGAGGCCCTGCAGGAGGCGTCTCTCGTCTGCATTTCCTCCTCACCTGCCTGTCTGTGGTGGAAAACCCATGGACAGAGCCTGGCCACTTTGGGGCAGTGTGGAGGTCTCAGCGCATGACCTCAGGGGCGGTCAGAGGCTGAAGCTTCTCCAACCTAAATACCCAGGACGCAGACCCTGAACGGGGCAGGGGTGGCACTGGGCACACTAGATGTGGCAGCCGCCCATCACTCACCCCATGATGTGCTGCACATAGGAAGGGTAGCGGAACTCTGTCCTGCCAGCACCTTTCTTCTCCACATCCGCTCCTGTGGGCAGAGCCCGGACAGTCACCACCCAAGGCAGGACACCCATGGCCACCCTAGATGGCAACTTAAACACAGGGCCCAGAGGGAGGCTGGGGAAGGATGCACAAGGTCTTTTTCATGTAAAAGAAGAGAAAAGCAGGGGCAGCCGTGGCCAGCATGCTGCTGTCTGTGTGGCCAGGTGCAGGATGCATGCGCTTGCCATGGACGCTGTGTCAGCCTCCAGCGCGCCAGAGCCCGCCACCTGCAGGGAGGTAGACAGGGCTGGGGGGGCTTCCCACTGCGGACACTGTGCCTTTTGAACCTCATACCCCATGAAAGAATTGCCCATTTTACAGAAGGAAGTTTCCATCACAGAAAAGGAAAGCTGCAATTTTGGGACTGGAGCTTGCACCTGAGTCTTGTACCTGCTCTCCGTATGGGACTTTATGTTCCTAAAGCACATGGAGAAACTGAGGCCCAGAGAGGCTGAGCCACCTGGCTGGGCCTCAGCATCCAGAAGGCCTGGCAGAGGCACAGTGAAGCCTCGGTCAGGATTTGCTGGGCCACCCATGGCACCTCCGAGTGAGGTGGGAGCCAGTGGCACTGGCCTGAGAGGCTGGGCCCAGGGTGGTGGCCCCTCCCTCCTCCTCCCTCCTCCTTCCTCCTACCTGCTCTCTGGGCCTCCAAGAGGAAGGCATTGCCGTAGTCCCAGAAGAAGAACTTCTCCTCGGCCAACCTGTTGATGGCTGAGACTTGCCTCCTCAGGCTGCAACAAGCCATGGGTCAGCACCACCGCTGTG
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Task1_train_7470
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A mutation in UROC1 (urocanate hydratase 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Urocanate hydratase deficiency
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GCTTGGGGTCAGGGGCAGATCTGGGTCTGGGGTCACTCTGGGAACTCAGCCTGGGGTCAAAGGCAGGGTTGATCTGTGACCAGGGTCTGGGGCCAGGGCCAGGGTTTAGGGCGTTTCCACCTACTAGGCGAAGTGGTCACATTCTGGCAACATATCACCCCCAAGGAATGCAGGGACACACCCCAGAGGCATTCCATTCTCAAATATGGGCAGCTGCTCTATAGACTGGCTCAGGGTGCCCAAGACAGGCACATGGGGCCAGATCCATGCTACCCAATATGGTGGCCACCAGTCATGAGTGGCTTTTCAGCTCTGCTCCTTGCATAGATACACCCCTGATTTCAAAGGCTCAGGATGAAAAACAATGTAAAATATCTCATTAATAATGTTTATATAGATTACATGTTAAAATAATAATATTTTGGATCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCCGGAGGTTGAGGTTGCAGTGAGCCAAGATCAAGCCACTATACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCTCTAAAAAAAAAAAAAAAAGTAAAAAAATAATATTTTTGATATATCAGGATGAATAAAATATAGTGTAAATTTGTTTATTTTTACTTTTTCATATGGCTGCTAGAATATTTAAAATTGGACGTGTGTCCACTGCAGCCACAGTGACTTCCTGGTTTTGAGGCTGTACTATAGACACGGATGCAAACACTGGGGGAAGCCGAGGGAAGGGCCAGGGACCTCTCTTACTAGCTTTGCAACTTTCTGTGAATCTATAATTATCTCAAAATTAAGAGCTTAAAAGCATGACACGTGTGTCTCGTGTTCTGTTTCTGCTGGACAGTGCTGGGCCTCGGTTTCCCTGGCTATTACCTGGGCCACGGCAGGATCCAGGTTGTTCATAATCATGTGCATGATGGCGGCAGCCACTTTCGTCTGGCAGGGGTACTGCTCAATCGGGTAGGCCCTGCAAGGGAAAGCCCAACCACCAGGCTGCCCTTCCCGCCAAAGCACAGCATCTAGCCTGGCCCCGCCCAGCCCCTGGCCGCTCAGGCAAGGATAGCCGGACACGGGGCCTGCAGAACTAGCTAGGAACGTACAGTGGGGGCTCCAGAGCCACTAGGGCTGAGGGAGGTGGCGTTCAGGCCCCAACCCACCCTGCTCTCCCTCCCCACTTGGCACACTCCACCTGGGAGACAGCTGCTGGCAAAGCAGAACTGATGGCTGCTCTCCAGAAGCCTCTCCGTCTGGGTAAGCAGAGTTTATTCATTTGTTCTTTCATTCATTCAACAAACACTTTTGGGCACCAATTCTCCAGCAGGTGCCAGGCCCGGAGGTACTGGCTGGAGTGAGGAACGTGGCTCCTACTTTAAAGGGAACAACCCTGGGATGACTCAAGGCAAGCCTGGGCCGCTGGCACCTTCAAGAACAATGAACTGCAGAAACGCAGACTCGAAGCTCCACCCCAGAACTGCTGGGTCTGAAACTGGGGTGAAGCCTGGCAGCCCATGTTCCCACAAGGCCTCCAGGGGTGCTGTGCACACTGTGGTTTGAGACCCTTATCGAGATCGTGAGGTATTTGAAGTCACTGCCAGAGCTCCCCAAAGCTCTCCCTGCCCTCTGGCAGAAAAACAAGCCATGGTTTTTAAAAGGGGTTTTGTATACAATTTGTCTCCAGAATTGCACAGGACTGGCTGCTCAGGACAGATGGGCCGGGCCTGAGAGACCTGAGAAGCTGCCCCTATCTTCTGGCAGGCTCAGGGCGGCAGCCAGCGCTGGGCTCCGGCTCCCGAGGCGACGACACAGAATCTTCCCTCCCCTGCCTCCTGGTCTGGACAGACTGGGTTTCCCCCTCACTGCCGACTCCCTCCTTGTTCCTGGCCCCCAGCACAGTCCCTTGCGGGAGCTGCCTGCCCCTCGGGTCCCTTTGAAGCTGTACCCACAAGGCTGACCTCATTTCAATGTCGGGGCAAAACCGGTACATGTAGATGTGTCCGTACAGTTGCAGCTCCTGGGCAAACTCTGGGGCCAGCAGCTCCTGGACATCCGGGGGGAAGTAGCGCAGGGCGTTCCTCAGCGCCAGCTGGGGTAGGAGAGCGGAGAGGCAGTCGGGGCTGGGACTCCAGGCCCGGTGTTCTGAGGCCCCGCGATGGGCCATCCTCCTCCCAAATGGATTTGTCTCTGCTCCACTCAGAAGCCTGTTGCCCACCCAGAGACTGTTCTCACCCCAGGCCCATCTACAGTGTCACCTCCTGCAGAAAGCCTTCCCTGATCGCCCCCTCCTGCCCCTTTCATGAAGGCAGACTGATCCCTCTCTCTTCTTGCTTACGGTGAACCATCTCCTGTTCTGGGGATGGCGCTGCTTACCCCCAGGCAGGCACCAGAGAGGGGCCTGCCTGAGGCTTGTGGCTATGGTGTAGAATGCAGAAGCTCCAGGGTGGAAAGTAGACCCCACATGGCCTTAAGTACCCTGTGCAAGTGCAAGCACATATAAGAAAAAGCTGTCAAAAGCAACATATATTTTACACACACACATGAACTCTTTTGATCGTGAGCCATAGGAAGCAATTCCTATGGCTACCCAGATACATACACCCATACTCCATGCAACAAGACAACCTTCCCACGTGGGTTCTAATACATCCATCCTCTTCTAACTCCTTTCATTTCACTTTCAAGTCAATACTGCTGCACCTCCTAAACTGATTTCACAGCCTGCTGGTTAGGTGGTAGCTGCAGCCTGACACCACTGTCCTCACTATTCTAAAGGCAGTGCCAGCCGCCGCCTCGGGGCTTGACGGGACATTTTACTCACGTGCTAGACAAGGAGGACTTCTTTCATAATCAGTTGTGTCAAATGCATTAGAAACATTGTTCAGATAATTACATAGCTCAAAAAGTACAACAAAGGTTCTGTGAAAATTAGTGAATTTAAAATCATGTCAGTTGATGGAAATGACTCGGCCATTCTTAAAGGTGAAATGTGTAAGAAGCTCAATCTGTTCTGAAATGAAGCACAAACTTGTGCCCTAAGCAAAGGAGATTCTGGCAATTTTTCCAAATCCGAAATACAGCCCCAAAGCTCTGTCTGCCACATTTTCCCCTTGTATAAAATTTCCATTTGCTAACCATTGAATTTTTCTTTATTGCTGAAATTCAGTAATTTAGCCTAGATATGTCTTCATGCTGATTATTCTATATCAAGGGTTTTTTTTCTTTCCAGGATAAACTGTCTGTTTATCTGCAATTTCATGTTTTTATTTAGTTCATGAAAGTTGTCTTCTATTTTTGTTTAATACTTCATCCTCTGTATCTAGAGTTACCTAACAGGCATGCAATAAATATTCTTTTAAGTGGGGAAGAAAGGCTCACTCTCACTGGCCTGGACTTAATCCTCCATGCCTTGGACTGGAGGCAGCTCTCCACATTAAAACAAGACGATGGGGCTCACACAGGTCGTGTGACCTGCCAAGGCCCTGCAACAGGACTGTGGGTGGCCTGGAGGGAGGCCCAGTGCCTCCACCCACCCTGGCAACCTCAGCAGAGGAGGAGTTTCAGGCTGAGCAGTGCCCACTGTTCCCAGGAAGGGCTGTGTGGTGTGATGGGGCCCACAGCTTCCTGATGACCACGGAACAATGGGCACTGCGGCACTGCGGCACTTCATCCAGCTCCCTCCAGAAGGAGCACGGCGCTCCCAGGATTTTTATATGTTTATGCTACGAAAAATATAAGGCTAGGCGTGGTGGCTAATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGTAGGAGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGTAACATAGGGAGACCCCCATCTTTACGAAAAATAAAAAATTGCCAGGCATGGTGCATATGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTAGGAAGATTGCTTGAGCCCAGGTGTTTGAGGTTACAGTGACCTATGATCACGTTGCTGCACTCCAGCTTGGACAAAACTAGACCCTGTCTCTAAAATGTATACATATGTATATATATAATGAACTTTTCAA
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GCTTGGGGTCAGGGGCAGATCTGGGTCTGGGGTCACTCTGGGAACTCAGCCTGGGGTCAAAGGCAGGGTTGATCTGTGACCAGGGTCTGGGGCCAGGGCCAGGGTTTAGGGCGTTTCCACCTACTAGGCGAAGTGGTCACATTCTGGCAACATATCACCCCCAAGGAATGCAGGGACACACCCCAGAGGCATTCCATTCTCAAATATGGGCAGCTGCTCTATAGACTGGCTCAGGGTGCCCAAGACAGGCACATGGGGCCAGATCCATGCTACCCAATATGGTGGCCACCAGTCATGAGTGGCTTTTCAGCTCTGCTCCTTGCATAGATACACCCCTGATTTCAAAGGCTCAGGATGAAAAACAATGTAAAATATCTCATTAATAATGTTTATATAGATTACATGTTAAAATAATAATATTTTGGATCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCCGGAGGTTGAGGTTGCAGTGAGCCAAGATCAAGCCACTATACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCTCTAAAAAAAAAAAAAAAAGTAAAAAAATAATATTTTTGATATATCAGGATGAATAAAATATAGTGTAAATTTGTTTATTTTTACTTTTTCATATGGCTGCTAGAATATTTAAAATTGGACGTGTGTCCACTGCAGCCACAGTGACTTCCTGGTTTTGAGGCTGTACTATAGACACGGATGCAAACACTGGGGGAAGCCGAGGGAAGGGCCAGGGACCTCTCTTACTAGCTTTGCAACTTTCTGTGAATCTATAATTATCTCAAAATTAAGAGCTTAAAAGCATGACACGTGTGTCTCGTGTTCTGTTTCTGCTGGACAGTGCTGGGCCTCGGTTTCCCTGGCTATTACCTGGGCCACGGCAGGATCCAGGTTGTTCATAATCATGTGCATGATGGCGGCAGCCACTTTCGTCTGGCAGGGGTACTGCTCAATCGGGTAGGCCCTGCAAGGGAAAGCCCAACCACCAGGCTGCCCTTCCCGCCAAAGCACAGCATCTAGCCTGGCCCCGCCCAGCCCCTGGCCGCTCAGGCAAGGATAGCCGGACACGGGGCCTGCAGAACTAGCTAGGAACGTACAGTGGGGGCTCCAGAGCCACTAGGGCTGAGGGAGGTGGCGTTCAGGCCCCAACCCACCCTGCTCTCCCTCCCCACTTGGCACACTCCACCTGGGAGACAGCTGCTGGCAAAGCAGAACTGATGGCTGCTCTCCAGAAGCCTCTCCGTCTGGGTAAGCAGAGTTTATTCATTTGTTCTTTCATTCATTCAACAAACACTTTTGGGCACCAATTCTCCAGCAGGTGCCAGGCCCGGAGGTACTGGCTGGAGTGAGGAACGTGGCTCCTACTTTAAAGGGAACAACCCTGGGATGACTCAAGGCAAGCCTGGGCCGCTGGCACCTTCAAGAACAATGAACTGCAGAAACGCAGACTCGAAGCTCCACCCCAGAACTGCTGGGTCTGAAACTGGGGTGAAGCCTGGCAGCCCATGTTCCCACAAGGCCTCCAGGGGTGCTGTGCACACTGTGGTTTGAGACCCTTATCGAGATCGTGAGGTATTTGAAGTCACTGCCAGAGCTCCCCAAAGCTCTCCCTGCCCTCTGGCAGAAAAACAAGCCATGGTTTTTAAAAGGGGTTTTGTATACAATTTGTCTCCAGAATTGCACAGGACTGGCTGCTCAGGACAGATGGGCCGGGCCTGAGAGACCTGAGAAGCTGCCCCTATCTTCTGGCAGGCTCAGGGCGGCAGCCAGCGCTGGGCTCCGGCTCCCGAGGCGACGACACAGAATCTTCCCTCCCCTGCCTCCTGGTCTGGACAGACTGGGTTTCCCCCTCACTGCCGACTCCCTCCTTGTTCCTGGCCCCCAGCACAGTCCCTTGCGGGAGCTGCCTGCCCCTCGGGTCCCTTTGAAGCTGTACCCACAAGGCTGACCTCATTTCAATGTCGGGGCAAAACCGGTACATGTAGATGTGTCCGTACGGTTGCAGCTCCTGGGCAAACTCTGGGGCCAGCAGCTCCTGGACATCCGGGGGGAAGTAGCGCAGGGCGTTCCTCAGCGCCAGCTGGGGTAGGAGAGCGGAGAGGCAGTCGGGGCTGGGACTCCAGGCCCGGTGTTCTGAGGCCCCGCGATGGGCCATCCTCCTCCCAAATGGATTTGTCTCTGCTCCACTCAGAAGCCTGTTGCCCACCCAGAGACTGTTCTCACCCCAGGCCCATCTACAGTGTCACCTCCTGCAGAAAGCCTTCCCTGATCGCCCCCTCCTGCCCCTTTCATGAAGGCAGACTGATCCCTCTCTCTTCTTGCTTACGGTGAACCATCTCCTGTTCTGGGGATGGCGCTGCTTACCCCCAGGCAGGCACCAGAGAGGGGCCTGCCTGAGGCTTGTGGCTATGGTGTAGAATGCAGAAGCTCCAGGGTGGAAAGTAGACCCCACATGGCCTTAAGTACCCTGTGCAAGTGCAAGCACATATAAGAAAAAGCTGTCAAAAGCAACATATATTTTACACACACACATGAACTCTTTTGATCGTGAGCCATAGGAAGCAATTCCTATGGCTACCCAGATACATACACCCATACTCCATGCAACAAGACAACCTTCCCACGTGGGTTCTAATACATCCATCCTCTTCTAACTCCTTTCATTTCACTTTCAAGTCAATACTGCTGCACCTCCTAAACTGATTTCACAGCCTGCTGGTTAGGTGGTAGCTGCAGCCTGACACCACTGTCCTCACTATTCTAAAGGCAGTGCCAGCCGCCGCCTCGGGGCTTGACGGGACATTTTACTCACGTGCTAGACAAGGAGGACTTCTTTCATAATCAGTTGTGTCAAATGCATTAGAAACATTGTTCAGATAATTACATAGCTCAAAAAGTACAACAAAGGTTCTGTGAAAATTAGTGAATTTAAAATCATGTCAGTTGATGGAAATGACTCGGCCATTCTTAAAGGTGAAATGTGTAAGAAGCTCAATCTGTTCTGAAATGAAGCACAAACTTGTGCCCTAAGCAAAGGAGATTCTGGCAATTTTTCCAAATCCGAAATACAGCCCCAAAGCTCTGTCTGCCACATTTTCCCCTTGTATAAAATTTCCATTTGCTAACCATTGAATTTTTCTTTATTGCTGAAATTCAGTAATTTAGCCTAGATATGTCTTCATGCTGATTATTCTATATCAAGGGTTTTTTTTCTTTCCAGGATAAACTGTCTGTTTATCTGCAATTTCATGTTTTTATTTAGTTCATGAAAGTTGTCTTCTATTTTTGTTTAATACTTCATCCTCTGTATCTAGAGTTACCTAACAGGCATGCAATAAATATTCTTTTAAGTGGGGAAGAAAGGCTCACTCTCACTGGCCTGGACTTAATCCTCCATGCCTTGGACTGGAGGCAGCTCTCCACATTAAAACAAGACGATGGGGCTCACACAGGTCGTGTGACCTGCCAAGGCCCTGCAACAGGACTGTGGGTGGCCTGGAGGGAGGCCCAGTGCCTCCACCCACCCTGGCAACCTCAGCAGAGGAGGAGTTTCAGGCTGAGCAGTGCCCACTGTTCCCAGGAAGGGCTGTGTGGTGTGATGGGGCCCACAGCTTCCTGATGACCACGGAACAATGGGCACTGCGGCACTGCGGCACTTCATCCAGCTCCCTCCAGAAGGAGCACGGCGCTCCCAGGATTTTTATATGTTTATGCTACGAAAAATATAAGGCTAGGCGTGGTGGCTAATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGTAGGAGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGTAACATAGGGAGACCCCCATCTTTACGAAAAATAAAAAATTGCCAGGCATGGTGCATATGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTAGGAAGATTGCTTGAGCCCAGGTGTTTGAGGTTACAGTGACCTATGATCACGTTGCTGCACTCCAGCTTGGACAAAACTAGACCCTGTCTCTAAAATGTATACATATGTATATATATAATGAACTTTTCAA
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Task1_train_7471
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A mutation found in PLXNA1 (plexin A1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; PLXNA1-related disorder
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TTTCCACGGCCTGGGTGCTGCCCCTCCCCTCCTGTGCCTAGGCCAGCTCCAGGGCTCCCTGGCTCACCTTGGGCTGTGCCTGAGAAACCTGGAAGTACTGGCTCTGAAGTGCAGCTCCCGGGCATGCGGGCTCCTAGTCTGGGGAACTGTCTGTGGGGGTAAGCAGGCCAAGTGGGGCCTGTCCCCATGTGGCCCGAGGGGGACTTTCCTGAGAGTTTCAGCAAGTTCCCTCTTCCTGCAGACACCAACCTTCTACCGTGTGAGCCCCTCCCGTGGGCCTCTGTCAGGGGGCACCTGGATTGGCATCGAGGGAAGCCACCTGAACGCAGGCAGTGATGTGGCTGTGTCGGTCGGTGGCCGGCCCTGCTCCTTCTCCTGGTACGGGGTGCAGGTGGGGGTGGGGGCCTGGCTGCCCCTCCTCCTGTTTCAGATGGTTGCATGCCCCTTCTTGTTGCCTGGGCAACGGGGCTATGGAGAGCCTGGCTGGGGTGATCACTGTGAAACCCAGAGGCGGAGGTTACCATGGAAACAGGCTACCTCCAGAGTGGTAGGACTGGGCGGTGATGGGCGTGGGGCCTGCCTTTGTGGGGCGGGGCAACTTGGCTGCCTCTGCCCTGGTTCTTCCCTGTGGGGAAGGGGGGAATCCCTTGGGTACAAAATAAGAAGTATTTTTTAAAAATTTTTAAGAGAGAAAACAGAAATCTTAACAAAAGCCCTGAGGCTTGAAGTGGATAATTTTAGATTAGGGATGATAATGGAATGTCCCTTTAAATATTTTCCTATGGTAATTACCCGTTATCAGACTAATCATTGGTGTCTGCAGCTGAGGGGGCCTGGTGGCTGTGGGGCTCCTGGCAGTGGTGGAAGAACTGAGGGTCCGGACCCAGGTGTGGGCTATGCCTGGCTGCCTGCCCAGTGGGGTGTCCCCGTGACCCCCACCCAGGCCAGCTCATCTAGTCTCCTCACAGCCCCCTGGGATGCGGGGATAGGGCGAGGTATTCCCACTGGGACAGGTGCCGAGAGGGAAGGTGTCTGCCTGGCCCAGGGTAGTAGGAGTGGGTGCTGGGCTCCCAGCACTCGGAGCCCCGGCTGAGTGAGGCTGGCCCTGAGACAGGCAGGGAAGGTCGCGCCAGGGCTTAGTCTCGCCAGCCCTCCCCAGGGACAGAGGGAGGGCAGCATGAGCCTACCTCCCAGCCTGGCGTGCGTGGGACGGGCCTGCTGCCTACTGCCTCTGGGGAGGCAGAGGCCTGGTGGGTGTGGAGCCCTGGCCAGGGTCACCAGGAGTGGGTGTGGGCGACAGGGAGGCTGTGATGAAAGCAGACCTGGAGAGGCGGCAGGCCGGGTCCCAAATGCCAGGCTGGGCAACAGTGGGGGCCTGAAGGGGCTGGGAGCCAGGGCGAGGGTAGGACAGACATGCACAGCCCTGGGAGGGAAAGTAGCGGTGATAGTATGCAGCCACCCAAGGCAGTACCTGTGACAGATGGCGCTGTTCCCACCGTCCCTCAATGCATCTGCATTCCACCTGCCTGGGTTCCACCCGTGTGCTCCTCACTGTCCCACTCGGGCACCTCCAGGAGGAACTCCCGTGAGATCCGGTGCCTGACACCCCCCGGGCAGAGCCCTGGCAGCGCTCCCATCATCATCAACATCAACCGCGCCCAGCTCACCAACCCTGAGGTGAAGTACAACTACACCGAGGACCCCACCATCCTGAGGATCGACCCCGAGTGGAGCATCAACAGGTGGGGCCCAGCAACACCCATTCCCTATCCCCAGCTATTGAGAGCAGCGCTGAGCCAGGAGCTCTTCCACTGGGCACTTGGCGGTGGCCCTCCTGCATGCCGGGTACTATCCTGCCGGGAAGCACCCCTTGCCAAGAGCTTTTACCTGTTTCCTGTCTTTGGGGAAGGCAGGCTTTGCCTGGCTGAGCTGTGGCCCACGTTTCCAGCTCACTGGGCCCCAGCATCATTTGGTGACCCCCCCACCCCTGTCCTGTTCCAGCGGTGGGACCCTCCTGACGGTCACAGGCACCAACCTGGCCACTGTCCGTGAACCCCGAATCCGGGCCAAGTATGGAGGCATTGAGAGGGAGAACGTGAGTCCCTGCCCTCAGCTGCCCACCTCGGTCCAGGCCTTCACCTGGGATGGGGCTCCTGCTAGGAATACCCGTGTCCCTGCCCCTGCCCCTACCCCTGCCCCTTCCCAGCTTATGCCAACCTTGGCTGTGCCTGGAGACCCCTGGGGAGGCACCTGTCCTGCCTGGCGGGTAGAAGGTCTGGCTCTGGGTTGCTGGCTGCACACACCTCTCCTTCAGGCCACATGTCCCTGGTCCACGTCGGGTGGGTGGCCCAGGACCAGCCCTGCTAGTGCCTGGCATCATCTGTGCAGGGAGCAGGCAGCCCCCAGGCCAGGGGCTCTGTCACTGGGAGCTGCCGGGCCACTCGCGGAGGTCCCGCCCAGCATCCCCACCCTGTGTCTCCAGGGCTGCCTGGTGTACAATGACACCACCATGGTATGCCGCGCCCCGTCTGTGGCCAACCCTGTGCGCAGCCCACCAGAGCTGGGGGAGCGGCCGGATGAGCTGGGCTTCGTCATGGACAACGTGCGCTCCCTGCTTGTGCTCAACTCCACCTCCTTCCTCTACTACCCTGACCCCGTACTGGAGCCACTCAGCCCCACTGGCCTGCTGGAGCTGAAGCCCAGCTCCCCACTCATCCTCAAGGTGGGTCACCATTGCCCGTAGGCTGGGCCAAGCCAGGGAAGAGGCCCCTCGTCCTGGGCTCTGGCTCACCCCCATCTCCTACAGGGCCGGAACCTCTTGCCACCTGCACCCGGCAACTCCCGACTCAACTACACGGTGCTCATCGGCTCCACACCCTGTACCCTCACCGTGTCGGAGACGCAACTGCTGTGCGAGGCGCCCAACCTCACTGGGCAGCACAAGGTCACGGTGCGTCTGTCCACCGGGGGTGCAGAGCTGGGAGAGCCATGCCCCACCTGTGGACCCTGCCCCACTAGCACAGCCCCAGCTCTGACCTTGCCCGAGACTCACCCCTAGCTCAGAGGGCGCCCGGCTCCAGTGCAGGCCCTGCCGTAGCCTTCAGCCTGCCACCTCCTTGAGCCCCCCGAGACTGCCTACCCACCCTGAGCCCTTGCCATGCCAGTGGTGCCCTGGCTGGCCAGGCGCCTGCCCTGGGTCCCAGTGTCTCCACCCTGGTGACCACTCTGTGCCCCTGTCGGTGGGACCTTTCCCACAGGCAGGTGTTGGGGGTGGGTCTTGCCCATCGGGAGGGGCTCCCAAGCTTTGTGGAAAGCATGGGAAGCTCCTGAGTGGCCTCCACCCACTGGCAGGTGCGGGCAGGTGGCTTCGAGTTCTCGCCAGGGACACTGCAGGTGTACTCGGACAGCCTGCTGACGCTGCCTGCCATTGTGGGCATTGGCGGAGGCGGGGGTCTCCTGCTGCTGGTCATCGTGGCTGTGCTCATCGCCTACAAGCGCAAGTCACGAGATGCTGACCGCACACTCAAGCGGCTGCAGCTCCAGATGGACAACCTGGAGTCCCGCGTGGCCCTCGAATGCAAGGAAGGTCTGTTGGGGCCAGGGCTCACTGGGGCAACTGCCACCTCCGAGCCAGGCCCTGGCCTGTCCCCACACCTACTTCCCACCGCCGCCCCCACCCTGCTTCAGCTCAGTTTACAATGTTCCTGATAGCCTTGCTGTGCCAGAGCTGGTCCCAGGGCAGTGGGCGGGTGCCTGACCAGGGCCTGGCCCTGCAGCAGGTACCACCTCCTTGGGGTGCTGCTTGCGACACAGAACCCAAAGCCAGACTGTTTGCATTTGTATCCCAGCTGGGCTATAAGGCTGAAGGTGGCTACTTACCCTTCTGTGGCTCAGTCTTGTCGTCTCTAGAGTGGGCACAATGACAGTGCCTACTTTCCCTGGGTGCTGGGAGTCGTGGTGGGTTGGCTGGTGCCAGCGGAGCAGCAGAGAGGGGTGCTTCCACCATGCAGCAATGGGGAGCCCTTGCGCTTTGGCAGTCCCTGGGCACATAGAGATCTTGGCCTGAGCTGACCTTTGTCCTTGAGATGTCTATAGG
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TTTCCACGGCCTGGGTGCTGCCCCTCCCCTCCTGTGCCTAGGCCAGCTCCAGGGCTCCCTGGCTCACCTTGGGCTGTGCCTGAGAAACCTGGAAGTACTGGCTCTGAAGTGCAGCTCCCGGGCATGCGGGCTCCTAGTCTGGGGAACTGTCTGTGGGGGTAAGCAGGCCAAGTGGGGCCTGTCCCCATGTGGCCCGAGGGGGACTTTCCTGAGAGTTTCAGCAAGTTCCCTCTTCCTGCAGACACCAACCTTCTACCGTGTGAGCCCCTCCCGTGGGCCTCTGTCAGGGGGCACCTGGATTGGCATCGAGGGAAGCCACCTGAACGCAGGCAGTGATGTGGCTGTGTCGGTCGGTGGCCGGCCCTGCTCCTTCTCCTGGTACGGGGTGCAGGTGGGGGTGGGGGCCTGGCTGCCCCTCCTCCTGTTTCAGATGGTTGCATGCCCCTTCTTGTTGCCTGGGCAACGGGGCTATGGAGAGCCTGGCTGGGGTGATCACTGTGAAACCCAGAGGCGGAGGTTACCATGGAAACAGGCTACCTCCAGAGTGGTAGGACTGGGCGGTGATGGGCGTGGGGCCTGCCTTTGTGGGGCGGGGCAACTTGGCTGCCTCTGCCCTGGTTCTTCCCTGTGGGGAAGGGGGGAATCCCTTGGGTACAAAATAAGAAGTATTTTTTAAAAATTTTTAAGAGAGAAAACAGAAATCTTAACAAAAGCCCTGAGGCTTGAAGTGGATAATTTTAGATTAGGGATGATAATGGAATGTCCCTTTAAATATTTTCCTATGGTAATTACCCGTTATCAGACTAATCATTGGTGTCTGCAGCTGAGGGGGCCTGGTGGCTGTGGGGCTCCTGGCAGTGGTGGAAGAACTGAGGGTCCGGACCCAGGTGTGGGCTATGCCTGGCTGCCTGCCCAGTGGGGTGTCCCCGTGACCCCCACCCAGGCCAGCTCATCTAGTCTCCTCACAGCCCCCTGGGATGCGGGGATAGGGCGAGGTATTCCCACTGGGACAGGTGCCGAGAGGGAAGGTGTCTGCCTGGCCCAGGGTAGTAGGAGTGGGTGCTGGGCTCCCAGCACTCGGAGCCCCGGCTGAGTGAGGCTGGCCCTGAGACAGGCAGGGAAGGTCGCGCCAGGGCTTAGTCTCGCCAGCCCTCCCCAGGGACAGAGGGAGGGCAGCATGAGCCTACCTCCCAGCCTGGCGTGCGTGGGACGGGCCTGCTGCCTACTGCCTCTGGGGAGGCAGAGGCCTGGTGGGTGTGGAGCCCTGGCCAGGGTCACCAGGAGTGGGTGTGGGCGACAGGGAGGCTGTGATGAAAGCAGACCTGGAGAGGCGGCAGGCCGGGTCCCAAATGCCAGGCTGGGCAACAGTGGGGGCCTGAAGGGGCTGGGAGCCAGGGCGAGGGTAGGACAGACATGCACAGCCCTGGGAGGGAAAGTAGCGGTGATAGTATGCAGCCACCCAAGGCAGTACCTGTGACAGATGGCGCTGTTCCCACCGTCCCTCAATGCATCTGCATTCCACCTGCCTGGGTTCCACCCGTGTGCTCCTCACTGTCCCACTCGGGCACCTCCAGGAGGAACTCCCGTGAGATCCGGTGCCTGACACCCCCCGGGCAGAGCCCTGGCAGCGCTCCCATCATCATCAACATCAACCGCGCCCAGCTCACCAACCCTGAGGTGAAGTACAACTACACCGAGGACCCCACCATCCTGAGGATCGACCCCGAGTGGAGCATCAACAGGTGGGGCCCAGCAACACCCATTCCCTATCCCCAGCTATTGAGAGCAGCGCTGAGCCAGGAGCTCTTCCACTGGGCACTTGGCGGTGGCCCTCCTGCATGCCGGGTACTATCCTGCCGGGAAGCACCCCTTGCCAAGAGCTTTTACCTGTTTCCTGTCTTTGGGGAAGGCAGGCTTTGCCTGGCTGAGCTGTGGCCCACGTTTCCAGCTCACTGGGCCCCAGCATCATTTGGTGACCCCCCCACCCCTGTCCTGTTCCAGCGGTGGGACCCTCCTGACGGTCACAGGCACCAACCTGGCCACTGTCCATGAACCCCGAATCCGGGCCAAGTATGGAGGCATTGAGAGGGAGAACGTGAGTCCCTGCCCTCAGCTGCCCACCTCGGTCCAGGCCTTCACCTGGGATGGGGCTCCTGCTAGGAATACCCGTGTCCCTGCCCCTGCCCCTACCCCTGCCCCTTCCCAGCTTATGCCAACCTTGGCTGTGCCTGGAGACCCCTGGGGAGGCACCTGTCCTGCCTGGCGGGTAGAAGGTCTGGCTCTGGGTTGCTGGCTGCACACACCTCTCCTTCAGGCCACATGTCCCTGGTCCACGTCGGGTGGGTGGCCCAGGACCAGCCCTGCTAGTGCCTGGCATCATCTGTGCAGGGAGCAGGCAGCCCCCAGGCCAGGGGCTCTGTCACTGGGAGCTGCCGGGCCACTCGCGGAGGTCCCGCCCAGCATCCCCACCCTGTGTCTCCAGGGCTGCCTGGTGTACAATGACACCACCATGGTATGCCGCGCCCCGTCTGTGGCCAACCCTGTGCGCAGCCCACCAGAGCTGGGGGAGCGGCCGGATGAGCTGGGCTTCGTCATGGACAACGTGCGCTCCCTGCTTGTGCTCAACTCCACCTCCTTCCTCTACTACCCTGACCCCGTACTGGAGCCACTCAGCCCCACTGGCCTGCTGGAGCTGAAGCCCAGCTCCCCACTCATCCTCAAGGTGGGTCACCATTGCCCGTAGGCTGGGCCAAGCCAGGGAAGAGGCCCCTCGTCCTGGGCTCTGGCTCACCCCCATCTCCTACAGGGCCGGAACCTCTTGCCACCTGCACCCGGCAACTCCCGACTCAACTACACGGTGCTCATCGGCTCCACACCCTGTACCCTCACCGTGTCGGAGACGCAACTGCTGTGCGAGGCGCCCAACCTCACTGGGCAGCACAAGGTCACGGTGCGTCTGTCCACCGGGGGTGCAGAGCTGGGAGAGCCATGCCCCACCTGTGGACCCTGCCCCACTAGCACAGCCCCAGCTCTGACCTTGCCCGAGACTCACCCCTAGCTCAGAGGGCGCCCGGCTCCAGTGCAGGCCCTGCCGTAGCCTTCAGCCTGCCACCTCCTTGAGCCCCCCGAGACTGCCTACCCACCCTGAGCCCTTGCCATGCCAGTGGTGCCCTGGCTGGCCAGGCGCCTGCCCTGGGTCCCAGTGTCTCCACCCTGGTGACCACTCTGTGCCCCTGTCGGTGGGACCTTTCCCACAGGCAGGTGTTGGGGGTGGGTCTTGCCCATCGGGAGGGGCTCCCAAGCTTTGTGGAAAGCATGGGAAGCTCCTGAGTGGCCTCCACCCACTGGCAGGTGCGGGCAGGTGGCTTCGAGTTCTCGCCAGGGACACTGCAGGTGTACTCGGACAGCCTGCTGACGCTGCCTGCCATTGTGGGCATTGGCGGAGGCGGGGGTCTCCTGCTGCTGGTCATCGTGGCTGTGCTCATCGCCTACAAGCGCAAGTCACGAGATGCTGACCGCACACTCAAGCGGCTGCAGCTCCAGATGGACAACCTGGAGTCCCGCGTGGCCCTCGAATGCAAGGAAGGTCTGTTGGGGCCAGGGCTCACTGGGGCAACTGCCACCTCCGAGCCAGGCCCTGGCCTGTCCCCACACCTACTTCCCACCGCCGCCCCCACCCTGCTTCAGCTCAGTTTACAATGTTCCTGATAGCCTTGCTGTGCCAGAGCTGGTCCCAGGGCAGTGGGCGGGTGCCTGACCAGGGCCTGGCCCTGCAGCAGGTACCACCTCCTTGGGGTGCTGCTTGCGACACAGAACCCAAAGCCAGACTGTTTGCATTTGTATCCCAGCTGGGCTATAAGGCTGAAGGTGGCTACTTACCCTTCTGTGGCTCAGTCTTGTCGTCTCTAGAGTGGGCACAATGACAGTGCCTACTTTCCCTGGGTGCTGGGAGTCGTGGTGGGTTGGCTGGTGCCAGCGGAGCAGCAGAGAGGGGTGCTTCCACCATGCAGCAATGGGGAGCCCTTGCGCTTTGGCAGTCCCTGGGCACATAGAGATCTTGGCCTGAGCTGACCTTTGTCCTTGAGATGTCTATAGG
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Task1_train_7472
|
Here is a mutation in PLXNA1 (plexin A1) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Dworschak-Punetha neurodevelopmental syndrome
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TTTCCACGGCCTGGGTGCTGCCCCTCCCCTCCTGTGCCTAGGCCAGCTCCAGGGCTCCCTGGCTCACCTTGGGCTGTGCCTGAGAAACCTGGAAGTACTGGCTCTGAAGTGCAGCTCCCGGGCATGCGGGCTCCTAGTCTGGGGAACTGTCTGTGGGGGTAAGCAGGCCAAGTGGGGCCTGTCCCCATGTGGCCCGAGGGGGACTTTCCTGAGAGTTTCAGCAAGTTCCCTCTTCCTGCAGACACCAACCTTCTACCGTGTGAGCCCCTCCCGTGGGCCTCTGTCAGGGGGCACCTGGATTGGCATCGAGGGAAGCCACCTGAACGCAGGCAGTGATGTGGCTGTGTCGGTCGGTGGCCGGCCCTGCTCCTTCTCCTGGTACGGGGTGCAGGTGGGGGTGGGGGCCTGGCTGCCCCTCCTCCTGTTTCAGATGGTTGCATGCCCCTTCTTGTTGCCTGGGCAACGGGGCTATGGAGAGCCTGGCTGGGGTGATCACTGTGAAACCCAGAGGCGGAGGTTACCATGGAAACAGGCTACCTCCAGAGTGGTAGGACTGGGCGGTGATGGGCGTGGGGCCTGCCTTTGTGGGGCGGGGCAACTTGGCTGCCTCTGCCCTGGTTCTTCCCTGTGGGGAAGGGGGGAATCCCTTGGGTACAAAATAAGAAGTATTTTTTAAAAATTTTTAAGAGAGAAAACAGAAATCTTAACAAAAGCCCTGAGGCTTGAAGTGGATAATTTTAGATTAGGGATGATAATGGAATGTCCCTTTAAATATTTTCCTATGGTAATTACCCGTTATCAGACTAATCATTGGTGTCTGCAGCTGAGGGGGCCTGGTGGCTGTGGGGCTCCTGGCAGTGGTGGAAGAACTGAGGGTCCGGACCCAGGTGTGGGCTATGCCTGGCTGCCTGCCCAGTGGGGTGTCCCCGTGACCCCCACCCAGGCCAGCTCATCTAGTCTCCTCACAGCCCCCTGGGATGCGGGGATAGGGCGAGGTATTCCCACTGGGACAGGTGCCGAGAGGGAAGGTGTCTGCCTGGCCCAGGGTAGTAGGAGTGGGTGCTGGGCTCCCAGCACTCGGAGCCCCGGCTGAGTGAGGCTGGCCCTGAGACAGGCAGGGAAGGTCGCGCCAGGGCTTAGTCTCGCCAGCCCTCCCCAGGGACAGAGGGAGGGCAGCATGAGCCTACCTCCCAGCCTGGCGTGCGTGGGACGGGCCTGCTGCCTACTGCCTCTGGGGAGGCAGAGGCCTGGTGGGTGTGGAGCCCTGGCCAGGGTCACCAGGAGTGGGTGTGGGCGACAGGGAGGCTGTGATGAAAGCAGACCTGGAGAGGCGGCAGGCCGGGTCCCAAATGCCAGGCTGGGCAACAGTGGGGGCCTGAAGGGGCTGGGAGCCAGGGCGAGGGTAGGACAGACATGCACAGCCCTGGGAGGGAAAGTAGCGGTGATAGTATGCAGCCACCCAAGGCAGTACCTGTGACAGATGGCGCTGTTCCCACCGTCCCTCAATGCATCTGCATTCCACCTGCCTGGGTTCCACCCGTGTGCTCCTCACTGTCCCACTCGGGCACCTCCAGGAGGAACTCCCGTGAGATCCGGTGCCTGACACCCCCCGGGCAGAGCCCTGGCAGCGCTCCCATCATCATCAACATCAACCGCGCCCAGCTCACCAACCCTGAGGTGAAGTACAACTACACCGAGGACCCCACCATCCTGAGGATCGACCCCGAGTGGAGCATCAACAGGTGGGGCCCAGCAACACCCATTCCCTATCCCCAGCTATTGAGAGCAGCGCTGAGCCAGGAGCTCTTCCACTGGGCACTTGGCGGTGGCCCTCCTGCATGCCGGGTACTATCCTGCCGGGAAGCACCCCTTGCCAAGAGCTTTTACCTGTTTCCTGTCTTTGGGGAAGGCAGGCTTTGCCTGGCTGAGCTGTGGCCCACGTTTCCAGCTCACTGGGCCCCAGCATCATTTGGTGACCCCCCCACCCCTGTCCTGTTCCAGCGGTGGGACCCTCCTGACGGTCACAGGCACCAACCTGGCCACTGTCCGTGAACCCCGAATCCGGGCCAAGTATGGAGGCATTGAGAGGGAGAACGTGAGTCCCTGCCCTCAGCTGCCCACCTCGGTCCAGGCCTTCACCTGGGATGGGGCTCCTGCTAGGAATACCCGTGTCCCTGCCCCTGCCCCTACCCCTGCCCCTTCCCAGCTTATGCCAACCTTGGCTGTGCCTGGAGACCCCTGGGGAGGCACCTGTCCTGCCTGGCGGGTAGAAGGTCTGGCTCTGGGTTGCTGGCTGCACACACCTCTCCTTCAGGCCACATGTCCCTGGTCCACGTCGGGTGGGTGGCCCAGGACCAGCCCTGCTAGTGCCTGGCATCATCTGTGCAGGGAGCAGGCAGCCCCCAGGCCAGGGGCTCTGTCACTGGGAGCTGCCGGGCCACTCGCGGAGGTCCCGCCCAGCATCCCCACCCTGTGTCTCCAGGGCTGCCTGGTGTACAATGACACCACCATGGTATGCCGCGCCCCGTCTGTGGCCAACCCTGTGCGCAGCCCACCAGAGCTGGGGGAGCGGCCGGATGAGCTGGGCTTCGTCATGGACAACGTGCGCTCCCTGCTTGTGCTCAACTCCACCTCCTTCCTCTACTACCCTGACCCCGTACTGGAGCCACTCAGCCCCACTGGCCTGCTGGAGCTGAAGCCCAGCTCCCCACTCATCCTCAAGGTGGGTCACCATTGCCCGTAGGCTGGGCCAAGCCAGGGAAGAGGCCCCTCGTCCTGGGCTCTGGCTCACCCCCATCTCCTACAGGGCCGGAACCTCTTGCCACCTGCACCCGGCAACTCCCGACTCAACTACACGGTGCTCATCGGCTCCACACCCTGTACCCTCACCGTGTCGGAGACGCAACTGCTGTGCGAGGCGCCCAACCTCACTGGGCAGCACAAGGTCACGGTGCGTCTGTCCACCGGGGGTGCAGAGCTGGGAGAGCCATGCCCCACCTGTGGACCCTGCCCCACTAGCACAGCCCCAGCTCTGACCTTGCCCGAGACTCACCCCTAGCTCAGAGGGCGCCCGGCTCCAGTGCAGGCCCTGCCGTAGCCTTCAGCCTGCCACCTCCTTGAGCCCCCCGAGACTGCCTACCCACCCTGAGCCCTTGCCATGCCAGTGGTGCCCTGGCTGGCCAGGCGCCTGCCCTGGGTCCCAGTGTCTCCACCCTGGTGACCACTCTGTGCCCCTGTCGGTGGGACCTTTCCCACAGGCAGGTGTTGGGGGTGGGTCTTGCCCATCGGGAGGGGCTCCCAAGCTTTGTGGAAAGCATGGGAAGCTCCTGAGTGGCCTCCACCCACTGGCAGGTGCGGGCAGGTGGCTTCGAGTTCTCGCCAGGGACACTGCAGGTGTACTCGGACAGCCTGCTGACGCTGCCTGCCATTGTGGGCATTGGCGGAGGCGGGGGTCTCCTGCTGCTGGTCATCGTGGCTGTGCTCATCGCCTACAAGCGCAAGTCACGAGATGCTGACCGCACACTCAAGCGGCTGCAGCTCCAGATGGACAACCTGGAGTCCCGCGTGGCCCTCGAATGCAAGGAAGGTCTGTTGGGGCCAGGGCTCACTGGGGCAACTGCCACCTCCGAGCCAGGCCCTGGCCTGTCCCCACACCTACTTCCCACCGCCGCCCCCACCCTGCTTCAGCTCAGTTTACAATGTTCCTGATAGCCTTGCTGTGCCAGAGCTGGTCCCAGGGCAGTGGGCGGGTGCCTGACCAGGGCCTGGCCCTGCAGCAGGTACCACCTCCTTGGGGTGCTGCTTGCGACACAGAACCCAAAGCCAGACTGTTTGCATTTGTATCCCAGCTGGGCTATAAGGCTGAAGGTGGCTACTTACCCTTCTGTGGCTCAGTCTTGTCGTCTCTAGAGTGGGCACAATGACAGTGCCTACTTTCCCTGGGTGCTGGGAGTCGTGGTGGGTTGGCTGGTGCCAGCGGAGCAGCAGAGAGGGGTGCTTCCACCATGCAGCAATGGGGAGCCCTTGCGCTTTGGCAGTCCCTGGGCACATAGAGATCTTGGCCTGAGCTGACCTTTGTCCTTGAGATGTCTATAGG
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TTTCCACGGCCTGGGTGCTGCCCCTCCCCTCCTGTGCCTAGGCCAGCTCCAGGGCTCCCTGGCTCACCTTGGGCTGTGCCTGAGAAACCTGGAAGTACTGGCTCTGAAGTGCAGCTCCCGGGCATGCGGGCTCCTAGTCTGGGGAACTGTCTGTGGGGGTAAGCAGGCCAAGTGGGGCCTGTCCCCATGTGGCCCGAGGGGGACTTTCCTGAGAGTTTCAGCAAGTTCCCTCTTCCTGCAGACACCAACCTTCTACCGTGTGAGCCCCTCCCGTGGGCCTCTGTCAGGGGGCACCTGGATTGGCATCGAGGGAAGCCACCTGAACGCAGGCAGTGATGTGGCTGTGTCGGTCGGTGGCCGGCCCTGCTCCTTCTCCTGGTACGGGGTGCAGGTGGGGGTGGGGGCCTGGCTGCCCCTCCTCCTGTTTCAGATGGTTGCATGCCCCTTCTTGTTGCCTGGGCAACGGGGCTATGGAGAGCCTGGCTGGGGTGATCACTGTGAAACCCAGAGGCGGAGGTTACCATGGAAACAGGCTACCTCCAGAGTGGTAGGACTGGGCGGTGATGGGCGTGGGGCCTGCCTTTGTGGGGCGGGGCAACTTGGCTGCCTCTGCCCTGGTTCTTCCCTGTGGGGAAGGGGGGAATCCCTTGGGTACAAAATAAGAAGTATTTTTTAAAAATTTTTAAGAGAGAAAACAGAAATCTTAACAAAAGCCCTGAGGCTTGAAGTGGATAATTTTAGATTAGGGATGATAATGGAATGTCCCTTTAAATATTTTCCTATGGTAATTACCCGTTATCAGACTAATCATTGGTGTCTGCAGCTGAGGGGGCCTGGTGGCTGTGGGGCTCCTGGCAGTGGTGGAAGAACTGAGGGTCCGGACCCAGGTGTGGGCTATGCCTGGCTGCCTGCCCAGTGGGGTGTCCCCGTGACCCCCACCCAGGCCAGCTCATCTAGTCTCCTCACAGCCCCCTGGGATGCGGGGATAGGGCGAGGTATTCCCACTGGGACAGGTGCCGAGAGGGAAGGTGTCTGCCTGGCCCAGGGTAGTAGGAGTGGGTGCTGGGCTCCCAGCACTCGGAGCCCCGGCTGAGTGAGGCTGGCCCTGAGACAGGCAGGGAAGGTCGCGCCAGGGCTTAGTCTCGCCAGCCCTCCCCAGGGACAGAGGGAGGGCAGCATGAGCCTACCTCCCAGCCTGGCGTGCGTGGGACGGGCCTGCTGCCTACTGCCTCTGGGGAGGCAGAGGCCTGGTGGGTGTGGAGCCCTGGCCAGGGTCACCAGGAGTGGGTGTGGGCGACAGGGAGGCTGTGATGAAAGCAGACCTGGAGAGGCGGCAGGCCGGGTCCCAAATGCCAGGCTGGGCAACAGTGGGGGCCTGAAGGGGCTGGGAGCCAGGGCGAGGGTAGGACAGACATGCACAGCCCTGGGAGGGAAAGTAGCGGTGATAGTATGCAGCCACCCAAGGCAGTACCTGTGACAGATGGCGCTGTTCCCACCGTCCCTCAATGCATCTGCATTCCACCTGCCTGGGTTCCACCCGTGTGCTCCTCACTGTCCCACTCGGGCACCTCCAGGAGGAACTCCCGTGAGATCCGGTGCCTGACACCCCCCGGGCAGAGCCCTGGCAGCGCTCCCATCATCATCAACATCAACCGCGCCCAGCTCACCAACCCTGAGGTGAAGTACAACTACACCGAGGACCCCACCATCCTGAGGATCGACCCCGAGTGGAGCATCAACAGGTGGGGCCCAGCAACACCCATTCCCTATCCCCAGCTATTGAGAGCAGCGCTGAGCCAGGAGCTCTTCCACTGGGCACTTGGCGGTGGCCCTCCTGCATGCCGGGTACTATCCTGCCGGGAAGCACCCCTTGCCAAGAGCTTTTACCTGTTTCCTGTCTTTGGGGAAGGCAGGCTTTGCCTGGCTGAGCTGTGGCCCACGTTTCCAGCTCACTGGGCCCCAGCATCATTTGGTGACCCCCCCACCCCTGTCCTGTTCCAGCGGTGGGACCCTCCTGACGGTCACAGGCACCAACCTGGCCACTGTCCATGAACCCCGAATCCGGGCCAAGTATGGAGGCATTGAGAGGGAGAACGTGAGTCCCTGCCCTCAGCTGCCCACCTCGGTCCAGGCCTTCACCTGGGATGGGGCTCCTGCTAGGAATACCCGTGTCCCTGCCCCTGCCCCTACCCCTGCCCCTTCCCAGCTTATGCCAACCTTGGCTGTGCCTGGAGACCCCTGGGGAGGCACCTGTCCTGCCTGGCGGGTAGAAGGTCTGGCTCTGGGTTGCTGGCTGCACACACCTCTCCTTCAGGCCACATGTCCCTGGTCCACGTCGGGTGGGTGGCCCAGGACCAGCCCTGCTAGTGCCTGGCATCATCTGTGCAGGGAGCAGGCAGCCCCCAGGCCAGGGGCTCTGTCACTGGGAGCTGCCGGGCCACTCGCGGAGGTCCCGCCCAGCATCCCCACCCTGTGTCTCCAGGGCTGCCTGGTGTACAATGACACCACCATGGTATGCCGCGCCCCGTCTGTGGCCAACCCTGTGCGCAGCCCACCAGAGCTGGGGGAGCGGCCGGATGAGCTGGGCTTCGTCATGGACAACGTGCGCTCCCTGCTTGTGCTCAACTCCACCTCCTTCCTCTACTACCCTGACCCCGTACTGGAGCCACTCAGCCCCACTGGCCTGCTGGAGCTGAAGCCCAGCTCCCCACTCATCCTCAAGGTGGGTCACCATTGCCCGTAGGCTGGGCCAAGCCAGGGAAGAGGCCCCTCGTCCTGGGCTCTGGCTCACCCCCATCTCCTACAGGGCCGGAACCTCTTGCCACCTGCACCCGGCAACTCCCGACTCAACTACACGGTGCTCATCGGCTCCACACCCTGTACCCTCACCGTGTCGGAGACGCAACTGCTGTGCGAGGCGCCCAACCTCACTGGGCAGCACAAGGTCACGGTGCGTCTGTCCACCGGGGGTGCAGAGCTGGGAGAGCCATGCCCCACCTGTGGACCCTGCCCCACTAGCACAGCCCCAGCTCTGACCTTGCCCGAGACTCACCCCTAGCTCAGAGGGCGCCCGGCTCCAGTGCAGGCCCTGCCGTAGCCTTCAGCCTGCCACCTCCTTGAGCCCCCCGAGACTGCCTACCCACCCTGAGCCCTTGCCATGCCAGTGGTGCCCTGGCTGGCCAGGCGCCTGCCCTGGGTCCCAGTGTCTCCACCCTGGTGACCACTCTGTGCCCCTGTCGGTGGGACCTTTCCCACAGGCAGGTGTTGGGGGTGGGTCTTGCCCATCGGGAGGGGCTCCCAAGCTTTGTGGAAAGCATGGGAAGCTCCTGAGTGGCCTCCACCCACTGGCAGGTGCGGGCAGGTGGCTTCGAGTTCTCGCCAGGGACACTGCAGGTGTACTCGGACAGCCTGCTGACGCTGCCTGCCATTGTGGGCATTGGCGGAGGCGGGGGTCTCCTGCTGCTGGTCATCGTGGCTGTGCTCATCGCCTACAAGCGCAAGTCACGAGATGCTGACCGCACACTCAAGCGGCTGCAGCTCCAGATGGACAACCTGGAGTCCCGCGTGGCCCTCGAATGCAAGGAAGGTCTGTTGGGGCCAGGGCTCACTGGGGCAACTGCCACCTCCGAGCCAGGCCCTGGCCTGTCCCCACACCTACTTCCCACCGCCGCCCCCACCCTGCTTCAGCTCAGTTTACAATGTTCCTGATAGCCTTGCTGTGCCAGAGCTGGTCCCAGGGCAGTGGGCGGGTGCCTGACCAGGGCCTGGCCCTGCAGCAGGTACCACCTCCTTGGGGTGCTGCTTGCGACACAGAACCCAAAGCCAGACTGTTTGCATTTGTATCCCAGCTGGGCTATAAGGCTGAAGGTGGCTACTTACCCTTCTGTGGCTCAGTCTTGTCGTCTCTAGAGTGGGCACAATGACAGTGCCTACTTTCCCTGGGTGCTGGGAGTCGTGGTGGGTTGGCTGGTGCCAGCGGAGCAGCAGAGAGGGGTGCTTCCACCATGCAGCAATGGGGAGCCCTTGCGCTTTGGCAGTCCCTGGGCACATAGAGATCTTGGCCTGAGCTGACCTTTGTCCTTGAGATGTCTATAGG
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Task1_train_7473
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This mutation is located in gene MCM2 (minichromosome maintenance complex component 2) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 70
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CACCCTGCTCAAAATGCTTCCATGGCCTTCCATTGCTTTCAGAATACAGAATAGTCAAACTCTCTAGAAAAACATCTAGCTCTTTTTTGATCCGGATTTTCTCTCCCTCAAGTCTTGTCTGTTGCCCGGCATCATAAGCTCCTAGGGTTAGTTCTTAGGGAGGGGCTTGCACATCCGGGCCCTGCCATGACCTCTGCAGCTTTGCACATGGCATCCTTCTATCTGTAACATCCTCCCTGCGTCTTCGCTCCCCTGGGCAAAGATAACTCCTACTAAAGCCTCAGATGTGACCTCCTACAAAATCCCAGAGTTGTCCAGCTGCTTGAAGTATTGAGCCTTTGAGCTTTGGGAGAAGTTAAACCATTGTGCTCCTAAGACGGTAAGAAGCGTCAGAAAACCAGGCTCTGAACCTCTGCTGTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCCCGTGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAAAGACTGGGTTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGAGCTTGTGATCCGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGTTGTCTTGTCAGCAAAATGGCCCTGGTGTGACCGAGGTCACGCAGCCAGCAAGTGTCGTCGGGTCCCCTGGAGCCTCAGCTTCTACCTCCGCTCCAGCTCCCACCACAGCGCAGGCGAGCGCACGCGCACAGCGCCGGGCCGCACACCTCCGGGCTCTGGGCGGAGCGCCTCGGGCGTTGTAGGCGGGACCGGACCCTCTGGCCCGCCCCTCCGTGTCCCTTCTGGTCGCCAGTGGACGCCGACGTCATGACGTCGCGTTCCGTAGGGCTCTTCCCGGGCTTTGGTGGGTCACGTGAACCACTTTTCGCGCGAAACCTGGTTGTTGCTGTAGTGGCGGAGAGGATCGTGGTACTGCTATGGCGGTGAGCGCGCTGGCGCGTGGCGGGCGGGCGCCGGGGACATGGGTGCGGAGGCTGCGCGCTTCCCGTACTCTGGCCCCGGCCCAGGGCGGCGCTCTGGGTGAGGCTGGGCCCCAGGCTCTGGGGCGCAGCTACTTTCTCGCCTGCACCCTGCGTGAGGCGACTCGCCTACCTACCACTGACCTGGGGCCCTGGGCTCCCTAAGGCGAGCTCGGCCCGTTCAGCCTCTGTCCTTTATTCACCCCACACATACTTATTGGGCGCCATCTGTGTGGCGCTGAGCGTACAAAAGACAGGCCCCCATTTCACTACACTCCTTTAAACTTTTTTTTTTTTTAATTTCCCAATGATCCTTGTTCCAAACACTACACTTACTTTTGTATTACCTTCTTGTCCCTTTGTCTTGTATACTGTCTGTTCCACATCTGAGTTCCAGACCTCTTGTTTTGGTGGCTCTTCTATGCCATCTCTATCACAATACCTTGCGCACTGTGTGTGCTGAAATAGGTCTAATGCTTAAGGGGAGATAATAGACAGTAAACAGGTAAATAGGCAAATGACATAACCTCAGTGGTTTTTCATGGAGAAAGCACGGTGATGTGGGTGACCCCGATATTTGAGCTGGCTTCTATTTGTTTGGAAGCCACTGACTCAGATTGCTCAGCTGAGAGCATTCCAGGTGAGAGAACAGCAAGGGCAAAGATCTGGAGGCTGGAAGGGGTTTGGTGTGTTGGAGGACAAGAGTCACAGGTGGAGAGAAAGAAGGGAAGGCCCCTGATGGTAAAAAGGAAGCTGTATCATGCCTCACCAGCTTCCTAGGTTTCTGACAACCGCACCTTCTCTTGCAGGAATCATCGGAATCCTTCACCATGGCATCCAGCCCGGCCCAGCGTCGGCGAGGCAATGATCCTCTCACCTCCAGCCCTGGCCGAAGCTCCCGGCGTACTGATGCCCTCACCTCCAGCCCTGGCCGTGACCTTCCACCATTTGAGGATGAGTCCGAGGGGCTCCTAGGCACAGAGGGGCCCCTGGAGGAAGAAGAGGATGGAGAGGAGCTCATTGGAGATGGCATGGAAAGGTAATTTCATTCAAGGCCCTGGACTCAGCAGATAGTTTTGCAGAGAGCCCATTGTGTGCCTGGTGGCCTGGCTTTGGGAGCTGGGAGCAGATGAATCGATGGCATTCTTGCCTTTGAGCACAGCTTGATCCAGGGTTCTGAGGAGACAGGTTTACAGAGCCATGACACAGGTCTCTTTAACTTACTGCATGTAACTTGGAAAGACTAGACCCTAAGCTGAGGATAAGCCCCGACTCCATAAGCACCCCAGAGAATGTAGGGGTCTCTAATCTGGAATACTCCAACTCAAAAAGACAGGAAGCAGGAAGCCCAGTGTTTCCCAGTAACTTTTCAAAGGAAAGGTGCATGGGGGAGGAGGGATCTGATAAATAAAGTTTTAGAGTCAATCAGCAAACATTTATTGTACCTAATGTGCACCATGCCCTTTGTTAGGAATGGTCTTGTTTATTAGTAAACATGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAAACCAGCCTGGTCAACAGGGTGAAACCCCGTCTCTGCTAAAAATACAAAAAATTAGCTGTGCATGGTGGTGCGTGCTTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTTCAACCCAGGAGGCATAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGAAAAGAGTGAAACTCTGTTTCAAAAATAAATAAATAAATAAGTTAGCAAGACTTAATGCTAGGAGAGTGGAGTAAGCTCTGCGCATAAGCAAGGCTAGATTTCTACCCCTGCCTTACTCTGCATTTCCAGCTGCGATCTGGTAGATAACGTCAGTAGCGGAATTGTGTGAATGCCCAGGAGCCTCGTGGAGATGCTCCTTTTGTGCCTTTTCAGCCTTAGCATGTGTGAGAGTACTGTGCAGGGCATCCTGCCGTCCCTAGGATGTCAGACAGTTGAGAGGCTTTCAAGGGCACTCCAGACTGGATGCATCTTTGCTATTATCAGTACCACCCCCAACGATGAGACTGCATGTGCTGTAGGCTGTAGAAGGAATGAGGAGTCTGGATAAATCTGCCCTGGACTTGGGGTCAGGGCATGGGTCCTAGACGGCTTTCCTGTTCTGCCTGATGGAGTTGTTCAGGCCGGATGCCCCTCCTCTGCTGTTTCCCCTCCCTGTCTTGACCCTTTCTCTTTGCTTCTCTGAGAAGCAAAGAGAGAGGCCCTTGGCAGGGGGCTTCTGGGTAGAGGTATCTGAGGGATGGCTGAGCCCAATTACATTTGTTTTTGTGGTTTTTCAAAAAAAAAAAAAAAAACTTTATTGGGCTATAGTTTTTTAGAGTTTACCCCTTGCGAAAATATAATTCAATGCAAATTCATGGTAAATTTCCTGAGTTATGCAGCCTTCACCACAATCCAGTGTGAGAACAGGGCCGTTTTCCCATTGAGGTCCCTCCTGCCTGCTTATAGTTCATTCTCAGTTCTTACCCAACCCACAGGTAAGAATTAAAGACCTGTCTCTAGATTTTCCAATCTGGTCATTTCATATAAATTGAATCATATTATATATGCACTTTTGTGGTGGGCTTTTTTCTCTTAGTGTGGTTTTAAGGTCTTTCTGTGTTCTTGCATGTGCAGCACTCCATTCCTTTTTGTGGCTGAATCATATTTCTTTGTATGGAGATACCACATCTATTCATCAGTTGATGGATGTTGGCTTCCTCAAGCCTTTTGGCGATTATGAATAATGTTGCTATGAACATTCATTACAGGTCGTGTTTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGTTTTGCTCTGTCGCTTAGGCTGCAGTGTAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAG
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CACCCTGCTCAAAATGCTTCCATGGCCTTCCATTGCTTTCAGAATACAGAATAGTCAAACTCTCTAGAAAAACATCTAGCTCTTTTTTGATCCGGATTTTCTCTCCCTCAAGTCTTGTCTGTTGCCCGGCATCATAAGCTCCTAGGGTTAGTTCTTAGGGAGGGGCTTGCACATCCGGGCCCTGCCATGACCTCTGCAGCTTTGCACATGGCATCCTTCTATCTGTAACATCCTCCCTGCGTCTTCGCTCCCCTGGGCAAAGATAACTCCTACTAAAGCCTCAGATGTGACCTCCTACAAAATCCCAGAGTTGTCCAGCTGCTTGAAGTATTGAGCCTTTGAGCTTTGGGAGAAGTTAAACCATTGTGCTCCTAAGACGGTAAGAAGCGTCAGAAAACCAGGCTCTGAACCTCTGCTGTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCCCGTGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAAAGACTGGGTTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGAGCTTGTGATCCGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGTTGTCTTGTCAGCAAAATGGCCCTGGTGTGACCGAGGTCACGCAGCCAGCAAGTGTCGTCGGGTCCCCTGGAGCCTCAGCTTCTACCTCCGCTCCAGCTCCCACCACAGCGCAGGCGAGCGCACGCGCACAGCGCCGGGCCGCACACCTCCGGGCTCTGGGCGGAGCGCCTCGGGCGTTGTAGGCGGGACCGGACCCTCTGGCCCGCCCCTCCGTGTCCCTTCTGGTCGCCAGTGGACGCCGACGTCATGACGTCGCGTTCCGTAGGGCTCTTCCCGGGCTTTGGTGGGTCACGTGAACCACTTTTCGCGCGAAACCTGGTTGTTGCTGTAGTGGCGGAGAGGATCGTGGTACTGCTATGGCGGTGAGCGCGCTGGCGCGTGGCGGGCGGGCGCCGGGGACATGGGTGCGGAGGCTGCGCGCTTCCCGTACTCTGGCCCCGGCCCAGGGCGGCGCTCTGGGTGAGGCTGGGCCCCAGGCTCTGGGGCGCAGCTACTTTCTCGCCTGCACCCTGCGTGAGGCGACTCGCCTACCTACCACTGACCTGGGGCCCTGGGCTCCCTAAGGCGAGCTCGGCCCGTTCAGCCTCTGTCCTTTATTCACCCCACACATACTTATTGGGCGCCATCTGTGTGGCGCTGAGCGTACAAAAGACAGGCCCCCATTTCACTACACTCCTTTAAACTTTTTTTTTTTTTAATTTCCCAATGATCCTTGTTCCAAACACTACACTTACTTTTGTATTACCTTCTTGTCCCTTTGTCTTGTATACTGTCTGTTCCACATCTGAGTTCCAGACCTCTTGTTTTGGTGGCTCTTCTATGCCATCTCTATCACAATACCTTGCGCACTGTGTGTGCTGAAATAGGTCTAATGCTTAAGGGGAGATAATAGACAGTAAACAGGTAAATAGGCAAATGACATAACCTCAGTGGTTTTTCATGGAGAAAGCACGGTGATGTGGGTGACCCCGATATTTGAGCTGGCTTCTATTTGTTTGGAAGCCACTGACTCAGATTGCTCAGCTGAGAGCATTCCAGGTGAGAGAACAGCAAGGGCAAAGATCTGGAGGCTGGAAGGGGTTTGGTGTGTTGGAGGACAAGAGTCACAGGTGGAGAGAAAGAAGGGAAGGCCCCTGATGGTAAAAAGGAAGCTGTATCATGCCTCACCAGCTTCCTAGGTTTCTGACAACCGCACCTTCTCTTGCAGGAATCATCGGAATCCTTCACCATGGCATCCAGCCCGGCCCAGCGTCGGCGAGGCAATGATCCTCTCACCTCCAGCCCTGGCCGAAGCTCCCGGCGTACTGATGCCCTCACCTCCAGCCCTGGCTGTGACCTTCCACCATTTGAGGATGAGTCCGAGGGGCTCCTAGGCACAGAGGGGCCCCTGGAGGAAGAAGAGGATGGAGAGGAGCTCATTGGAGATGGCATGGAAAGGTAATTTCATTCAAGGCCCTGGACTCAGCAGATAGTTTTGCAGAGAGCCCATTGTGTGCCTGGTGGCCTGGCTTTGGGAGCTGGGAGCAGATGAATCGATGGCATTCTTGCCTTTGAGCACAGCTTGATCCAGGGTTCTGAGGAGACAGGTTTACAGAGCCATGACACAGGTCTCTTTAACTTACTGCATGTAACTTGGAAAGACTAGACCCTAAGCTGAGGATAAGCCCCGACTCCATAAGCACCCCAGAGAATGTAGGGGTCTCTAATCTGGAATACTCCAACTCAAAAAGACAGGAAGCAGGAAGCCCAGTGTTTCCCAGTAACTTTTCAAAGGAAAGGTGCATGGGGGAGGAGGGATCTGATAAATAAAGTTTTAGAGTCAATCAGCAAACATTTATTGTACCTAATGTGCACCATGCCCTTTGTTAGGAATGGTCTTGTTTATTAGTAAACATGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAAACCAGCCTGGTCAACAGGGTGAAACCCCGTCTCTGCTAAAAATACAAAAAATTAGCTGTGCATGGTGGTGCGTGCTTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTTCAACCCAGGAGGCATAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGAAAAGAGTGAAACTCTGTTTCAAAAATAAATAAATAAATAAGTTAGCAAGACTTAATGCTAGGAGAGTGGAGTAAGCTCTGCGCATAAGCAAGGCTAGATTTCTACCCCTGCCTTACTCTGCATTTCCAGCTGCGATCTGGTAGATAACGTCAGTAGCGGAATTGTGTGAATGCCCAGGAGCCTCGTGGAGATGCTCCTTTTGTGCCTTTTCAGCCTTAGCATGTGTGAGAGTACTGTGCAGGGCATCCTGCCGTCCCTAGGATGTCAGACAGTTGAGAGGCTTTCAAGGGCACTCCAGACTGGATGCATCTTTGCTATTATCAGTACCACCCCCAACGATGAGACTGCATGTGCTGTAGGCTGTAGAAGGAATGAGGAGTCTGGATAAATCTGCCCTGGACTTGGGGTCAGGGCATGGGTCCTAGACGGCTTTCCTGTTCTGCCTGATGGAGTTGTTCAGGCCGGATGCCCCTCCTCTGCTGTTTCCCCTCCCTGTCTTGACCCTTTCTCTTTGCTTCTCTGAGAAGCAAAGAGAGAGGCCCTTGGCAGGGGGCTTCTGGGTAGAGGTATCTGAGGGATGGCTGAGCCCAATTACATTTGTTTTTGTGGTTTTTCAAAAAAAAAAAAAAAAACTTTATTGGGCTATAGTTTTTTAGAGTTTACCCCTTGCGAAAATATAATTCAATGCAAATTCATGGTAAATTTCCTGAGTTATGCAGCCTTCACCACAATCCAGTGTGAGAACAGGGCCGTTTTCCCATTGAGGTCCCTCCTGCCTGCTTATAGTTCATTCTCAGTTCTTACCCAACCCACAGGTAAGAATTAAAGACCTGTCTCTAGATTTTCCAATCTGGTCATTTCATATAAATTGAATCATATTATATATGCACTTTTGTGGTGGGCTTTTTTCTCTTAGTGTGGTTTTAAGGTCTTTCTGTGTTCTTGCATGTGCAGCACTCCATTCCTTTTTGTGGCTGAATCATATTTCTTTGTATGGAGATACCACATCTATTCATCAGTTGATGGATGTTGGCTTCCTCAAGCCTTTTGGCGATTATGAATAATGTTGCTATGAACATTCATTACAGGTCGTGTTTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGTTTTGCTCTGTCGCTTAGGCTGCAGTGTAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAG
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Task1_train_7474
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This sequence change occurs on Chromosome 3, altering SEC61A1 (SEC61 translocon subunit alpha 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Hyperuricemic nephropathy, familial juvenile type 4
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GCCCATGTGCTGCTTTTAATGGACGAATTTGTAAAGCTTTACCCCCTCAATTCCAGTGTAGCGAAGGGGCATGGCTCTGGAGGCAGGCAAGCCTAGGTCCCACCCTTTACATAGCACCTTAATAGCTATGTGACCTTGGCCTTGTAACTCAGTGTGGTAGACGGAACAAGGGAAATACGTGCAAGGTATAGCAGTGGCTCAGGAAGGGATTAACTCTGGGAGACATGATGTCTTATGGTGGTTTTGAAGGAGAAATAGAAGTCTCCTTGAAGGGACGGAAAGGAATTCCAAATAAAAGGAGTATATAGTTTGCAAAGGCATTGGTGACAAGAGTGTAGCATGTTTGGATGGGAGGTTATTAGATGTAGTTGCTATTGATAGAACATAATTGTAGGTGGGGAACATTAGGAGATGAATAACAAGGGCCAGACATGAGAATGTCACTTTGGAAGAAAAGGAGAGGACTAGAGTTGGTTTAGAGGCTTTTCACATCAGAGGATGAACTGTGGTACTGAGCAAGAATGGATTTAGGGGCTACTAAGAAGCAGAGGAGACAGGACTTGGATAAAGAGCTTTTGGGGTTTTGATGTTAAATTTGATTGTAACCAGGAGAGAGGACTTGGTGATTAGAAAGGGAGTTTTGAAAAAATTGTCTGCTCTTTGTTTCCCATCAAGATTCATTTCAGACAGGTTACTCTGAAATGGCGTTGCCTTCTCTTGGCCACTTTCTAATTTCTTAGTGTGGTGGGATGGTAGGTGGGAAGAGGACCATTCTCAAGAGAAGAAGAGTCCTGTGAATGCCCCCAGCTTTGGATGGAGTATCTGAACACTGATTCACCCACTGTTGTGTGGCCGTATGACTGTGTCCTACTTTGCCTGCATGTATAGTTAGAGGACTGTGACTCCAGTTCTGGCCAGAGGGCCAGGAATGCTGACTCAGTGCCTGCCTAGAAGTGTTTTTAAAGAACACAGTTTTGTCACTTAATACTGTCAGTCTCTCACAAGGTATTTCAACCTCAGAATCTTCCGTCTGTACAATAATTAATGTTTGTTAAGCCCTCTAAAGCCATTAATGTAGTGTAGGCAGCAGGTATTAGTGAAGACACTCAGTTTCAGAGGCAGAAAACCTGGAAGAGTTCCCACTCTACTCTTTAGTGACAGAGGTTTTGGGTGGGAGGTTTTCTAATGATACTTAATACTTAATAGTCATCTTTACAGTGATTCTTGTCACCTATGCAACCTATGTACCTGAGAAGATGTGAAAATCCTTAAACAAATGTTACTAGTAGGTTAAACATGCAACTCTCCTGCCCTTCCCCAATATGGTTTATTACACTGTTTTACCCTTAATTCATAGAAAATACACTATTGAGCAATTCCAAATTACTTGACTCTAGAATAACAAGGTTTTGTGACTGAAACTCAAATGAAAAGTGGTTGCTCGTGTGTTTTACAAGTCATGTTCTATTGTGACATTCTTTGTTCTTGAGTCTTAACTGTTAATGCTAATGGTTAAAAGCACAGTTTGGGACTCAAACTCACTTTAGCATTGGGGTTTGGTACAAATTATTTAGCTCTTCTAAGGCTCAGTTGTAAAATAAAGGTAATGCTCTGTGGTGTGAGGTGAGCTGGGGTGATGCCTGTAGGTCCTTGCATTGTGCTCTGTGCAGAGGAAGTTACGCAGTACATGGTACTTATGTTTGGTACATGGTTTGGCTTCTCTGCTGAACAGAGAAAAGAGTCTGGTTGGAGTCCATTTTTAGAGAAAGGGGTCTGATTGGAGTCCATTTTTATTAATTTGCTTTTCAAAGTAACTCCCTGCTTCAATTCATTCTCTCCTACTCTAGATTCAGTTTAAGGAGAAAGTGCTGTGGACCGCTATCACCCTCTTTATCTTCTTAGTGTGCTGCCAGGTAAGCTCAGGCTTGTATTTCGTATTGGGGAGGGGGATAAGAGTGGCTGGAAACAGGAGTGCTGACTGTTTTGCTCTTTGCCTGTTCCCAGATTCCCCTGTTTGGGATCATGTCTTCAGATTCAGCTGACCCTTTCTATTGGATGAGAGTGATTCTAGCCTCTAACAGAGGTAGGACTCTGGCTCTGTCTTTTCTCTGTAGAGTGTAGGCTTACCTAGCTTCACTTAGTTAAATTAATAGGCTTTGGCTTTATATGGAACTTAGAGAGTGACTTGGAAAATAGAGTGAAGAATGTTAAAGTGCTGTGTTGAATAGCCTTATTAAATGCTGAGTTCAGCACCAAGGCATACCATCATATTTGGAATTGTATTTGAATGCAGTACAAAACCTGTAATGAGAAGATAAGTCTATGCTATAGAGAGAATAAAAAACATGGAAAAACTAGAATACTTTTTGAATACCTGAAATGATGACATTTCCATTGATAACATTCTTCAGAATATGTAATTTGTTTTTCAGCTGTATCTTTTTCATATCTATAGGTTACATATAGTGTCAAAAAATATGTAACAGTGTTTTATATCCTCTAACCAGTTACTTATGGGACTGGGGAGGATTCTGAATGTGTAGGTTGATACTGCATTTGATTAACTCATTTAAAAAATATAGTTCAATTAAATTCCAAATCAGTTGGAAGTGTAGCTCATTTTAACATAATGGGAAGTAGAGGCTTATTCACAACTAGATACAATTGTACAGGCTCCTTTTCCAGACTCTGGAAATTATTTGAATGTTATCCTTTTTTTATTAACTGATGAAGAGACGAACATTTCTTATCTCTAAAACCAGAATGAATCTGTTTATGGTGAATTTAAATGCAGCAGTCTGTTTAGACACCATGTGACTTCCTAAACAGAATAAGCTGTTGCCTGGCAGGCTGAACAGAATGAATTGAATTATATACTAATCGTTGATATTTTGGGGTTCTAAATTAAACACAGCTAGGAAACTGAAACACATTGGTTTTATATAAGGGGTACCCAGTCAAATTTTGCGTATTCATTTTTAAAATAACGTACTACGTTTCCAAGCTGATATTGACTGTTTTGCTTCCCCGTTTCCTCAAGGCACATTGATGGAGCTAGGGATCTCTCCTATTGTCACGTCTGGCCTTATAATGCAACTCTTGGCTGGCGCCAAGATAATTGAAGTTGGTGACACCCCAAAAGACCGAGCTCTCTTCAACGGAGCCCAAAAGTGTAAGAAAGATTGTGAATAATCTGATGTCTATAGTTGGAAAATTTGAATTTGCTATAAGATTTTGGTATCAGTTTTTCTTTTTTTATTTATTTTTTATTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGACGCAGTCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGATTTCACTACATAGGCCATGCTGGTCTTGAACTCCTGATCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCAAACAGTATTTTCTTTTGTGCTGCAACCTCCTTGGCCTGCCAACCCTGCAGGAGCTCCATGCCCTGTGTTAGCGTGAGAGAGCACTTCTGGTAGAGCAGAGGTGGTGGGTGCTGGGGATGGGCTGGGCAAGGCAGGGGAGAGTGTCTGGAGTGCCCCTGAGGCCATGTAATGGAGGAGAAGGATCAGAGCTTGGAGGTCTTAGCACCCTTGGCCACCATTTCATTATTGCTTAAAAGGAAGTAATGGCTACTTCAGAGCTGTCATAAGGATTAAATAATCACTGTCACAATGCCTGGCACATAGTAGTTATTTGGCAAGTGTTTTATAAAAGAATTTAACTGACTGGGGGGCGGTGGCTCACGCCTGTAACCCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATCTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGACAAGGTGCCTTAATCCCAGCTACTTGAGAGGCAGAGG
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GCCCATGTGCTGCTTTTAATGGACGAATTTGTAAAGCTTTACCCCCTCAATTCCAGTGTAGCGAAGGGGCATGGCTCTGGAGGCAGGCAAGCCTAGGTCCCACCCTTTACATAGCACCTTAATAGCTATGTGACCTTGGCCTTGTAACTCAGTGTGGTAGACGGAACAAGGGAAATACGTGCAAGGTATAGCAGTGGCTCAGGAAGGGATTAACTCTGGGAGACATGATGTCTTATGGTGGTTTTGAAGGAGAAATAGAAGTCTCCTTGAAGGGACGGAAAGGAATTCCAAATAAAAGGAGTATATAGTTTGCAAAGGCATTGGTGACAAGAGTGTAGCATGTTTGGATGGGAGGTTATTAGATGTAGTTGCTATTGATAGAACATAATTGTAGGTGGGGAACATTAGGAGATGAATAACAAGGGCCAGACATGAGAATGTCACTTTGGAAGAAAAGGAGAGGACTAGAGTTGGTTTAGAGGCTTTTCACATCAGAGGATGAACTGTGGTACTGAGCAAGAATGGATTTAGGGGCTACTAAGAAGCAGAGGAGACAGGACTTGGATAAAGAGCTTTTGGGGTTTTGATGTTAAATTTGATTGTAACCAGGAGAGAGGACTTGGTGATTAGAAAGGGAGTTTTGAAAAAATTGTCTGCTCTTTGTTTCCCATCAAGATTCATTTCAGACAGGTTACTCTGAAATGGCGTTGCCTTCTCTTGGCCACTTTCTAATTTCTTAGTGTGGTGGGATGGTAGGTGGGAAGAGGACCATTCTCAAGAGAAGAAGAGTCCTGTGAATGCCCCCAGCTTTGGATGGAGTATCTGAACACTGATTCACCCACTGTTGTGTGGCCGTATGACTGTGTCCTACTTTGCCTGCATGTATAGTTAGAGGACTGTGACTCCAGTTCTGGCCAGAGGGCCAGGAATGCTGACTCAGTGCCTGCCTAGAAGTGTTTTTAAAGAACACAGTTTTGTCACTTAATACTGTCAGTCTCTCACAAGGTATTTCAACCTCAGAATCTTCCGTCTGTACAATAATTAATGTTTGTTAAGCCCTCTAAAGCCATTAATGTAGTGTAGGCAGCAGGTATTAGTGAAGACACTCAGTTTCAGAGGCAGAAAACCTGGAAGAGTTCCCACTCTACTCTTTAGTGACAGAGGTTTTGGGTGGGAGGTTTTCTAATGATACTTAATACTTAATAGTCATCTTTACAGTGATTCTTGTCACCTATGCAACCTATGTACCTGAGAAGATGTGAAAATCCTTAAACAAATGTTACTAGTAGGTTAAACATGCAACTCTCCTGCCCTTCCCCAATATGGTTTATTACACTGTTTTACCCTTAATTCATAGAAAATACACTATTGAGCAATTCCAAATTACTTGACTCTAGAATAACAAGGTTTTGTGACTGAAACTCAAATGAAAAGTGGTTGCTCGTGTGTTTTACAAGTCATGTTCTATTGTGACATTCTTTGTTCTTGAGTCTTAACTGTTAATGCTAATGGTTAAAAGCACAGTTTGGGACTCAAACTCACTTTAGCATTGGGGTTTGGTACAAATTATTTAGCTCTTCTAAGGCTCAGTTGTAAAATAAAGGTAATGCTCTGTGGTGTGAGGTGAGCTGGGGTGATGCCTGTAGGTCCTTGCATTGTGCTCTGTGCAGAGGAAGTTACGCAGTACATGGTACTTATGTTTGGTACATGGTTTGGCTTCTCTGCTGAACAGAGAAAAGAGTCTGGTTGGAGTCCATTTTTAGAGAAAGGGGTCTGATTGGAGTCCATTTTTATTAATTTGCTTTTCAAAGTAACTCCCTGCTTCAATTCATTCTCTCCTACTCTAGATTCAGTTTAAGGAGAAAGTGCTGTGGACCGCTATCACCCTCTTTATCTTCTTAGTGTGCTGCCAGGTAAGCTCAGGCTTGTATTTCGTATTGGGGAGGGGGATAAGAGTGGCTGGAAACAGGAGTGCTGACTGTTTTGCTCTTTGCCTGTTCCCAGATTCCCCTGTTTGGGATCATGTCTTCAGATTCAGCTGACCCTTTATATTGGATGAGAGTGATTCTAGCCTCTAACAGAGGTAGGACTCTGGCTCTGTCTTTTCTCTGTAGAGTGTAGGCTTACCTAGCTTCACTTAGTTAAATTAATAGGCTTTGGCTTTATATGGAACTTAGAGAGTGACTTGGAAAATAGAGTGAAGAATGTTAAAGTGCTGTGTTGAATAGCCTTATTAAATGCTGAGTTCAGCACCAAGGCATACCATCATATTTGGAATTGTATTTGAATGCAGTACAAAACCTGTAATGAGAAGATAAGTCTATGCTATAGAGAGAATAAAAAACATGGAAAAACTAGAATACTTTTTGAATACCTGAAATGATGACATTTCCATTGATAACATTCTTCAGAATATGTAATTTGTTTTTCAGCTGTATCTTTTTCATATCTATAGGTTACATATAGTGTCAAAAAATATGTAACAGTGTTTTATATCCTCTAACCAGTTACTTATGGGACTGGGGAGGATTCTGAATGTGTAGGTTGATACTGCATTTGATTAACTCATTTAAAAAATATAGTTCAATTAAATTCCAAATCAGTTGGAAGTGTAGCTCATTTTAACATAATGGGAAGTAGAGGCTTATTCACAACTAGATACAATTGTACAGGCTCCTTTTCCAGACTCTGGAAATTATTTGAATGTTATCCTTTTTTTATTAACTGATGAAGAGACGAACATTTCTTATCTCTAAAACCAGAATGAATCTGTTTATGGTGAATTTAAATGCAGCAGTCTGTTTAGACACCATGTGACTTCCTAAACAGAATAAGCTGTTGCCTGGCAGGCTGAACAGAATGAATTGAATTATATACTAATCGTTGATATTTTGGGGTTCTAAATTAAACACAGCTAGGAAACTGAAACACATTGGTTTTATATAAGGGGTACCCAGTCAAATTTTGCGTATTCATTTTTAAAATAACGTACTACGTTTCCAAGCTGATATTGACTGTTTTGCTTCCCCGTTTCCTCAAGGCACATTGATGGAGCTAGGGATCTCTCCTATTGTCACGTCTGGCCTTATAATGCAACTCTTGGCTGGCGCCAAGATAATTGAAGTTGGTGACACCCCAAAAGACCGAGCTCTCTTCAACGGAGCCCAAAAGTGTAAGAAAGATTGTGAATAATCTGATGTCTATAGTTGGAAAATTTGAATTTGCTATAAGATTTTGGTATCAGTTTTTCTTTTTTTATTTATTTTTTATTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGACGCAGTCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGATTTCACTACATAGGCCATGCTGGTCTTGAACTCCTGATCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCAAACAGTATTTTCTTTTGTGCTGCAACCTCCTTGGCCTGCCAACCCTGCAGGAGCTCCATGCCCTGTGTTAGCGTGAGAGAGCACTTCTGGTAGAGCAGAGGTGGTGGGTGCTGGGGATGGGCTGGGCAAGGCAGGGGAGAGTGTCTGGAGTGCCCCTGAGGCCATGTAATGGAGGAGAAGGATCAGAGCTTGGAGGTCTTAGCACCCTTGGCCACCATTTCATTATTGCTTAAAAGGAAGTAATGGCTACTTCAGAGCTGTCATAAGGATTAAATAATCACTGTCACAATGCCTGGCACATAGTAGTTATTTGGCAAGTGTTTTATAAAAGAATTTAACTGACTGGGGGGCGGTGGCTCACGCCTGTAACCCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATCTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGACAAGGTGCCTTAATCCCAGCTACTTGAGAGGCAGAGG
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Task1_train_7475
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Given a variant located on Chromosome 3 and affecting SEC61A1 (SEC61 translocon subunit alpha 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Hyperuricemic nephropathy, familial juvenile type 4
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TTTAATGGACGAATTTGTAAAGCTTTACCCCCTCAATTCCAGTGTAGCGAAGGGGCATGGCTCTGGAGGCAGGCAAGCCTAGGTCCCACCCTTTACATAGCACCTTAATAGCTATGTGACCTTGGCCTTGTAACTCAGTGTGGTAGACGGAACAAGGGAAATACGTGCAAGGTATAGCAGTGGCTCAGGAAGGGATTAACTCTGGGAGACATGATGTCTTATGGTGGTTTTGAAGGAGAAATAGAAGTCTCCTTGAAGGGACGGAAAGGAATTCCAAATAAAAGGAGTATATAGTTTGCAAAGGCATTGGTGACAAGAGTGTAGCATGTTTGGATGGGAGGTTATTAGATGTAGTTGCTATTGATAGAACATAATTGTAGGTGGGGAACATTAGGAGATGAATAACAAGGGCCAGACATGAGAATGTCACTTTGGAAGAAAAGGAGAGGACTAGAGTTGGTTTAGAGGCTTTTCACATCAGAGGATGAACTGTGGTACTGAGCAAGAATGGATTTAGGGGCTACTAAGAAGCAGAGGAGACAGGACTTGGATAAAGAGCTTTTGGGGTTTTGATGTTAAATTTGATTGTAACCAGGAGAGAGGACTTGGTGATTAGAAAGGGAGTTTTGAAAAAATTGTCTGCTCTTTGTTTCCCATCAAGATTCATTTCAGACAGGTTACTCTGAAATGGCGTTGCCTTCTCTTGGCCACTTTCTAATTTCTTAGTGTGGTGGGATGGTAGGTGGGAAGAGGACCATTCTCAAGAGAAGAAGAGTCCTGTGAATGCCCCCAGCTTTGGATGGAGTATCTGAACACTGATTCACCCACTGTTGTGTGGCCGTATGACTGTGTCCTACTTTGCCTGCATGTATAGTTAGAGGACTGTGACTCCAGTTCTGGCCAGAGGGCCAGGAATGCTGACTCAGTGCCTGCCTAGAAGTGTTTTTAAAGAACACAGTTTTGTCACTTAATACTGTCAGTCTCTCACAAGGTATTTCAACCTCAGAATCTTCCGTCTGTACAATAATTAATGTTTGTTAAGCCCTCTAAAGCCATTAATGTAGTGTAGGCAGCAGGTATTAGTGAAGACACTCAGTTTCAGAGGCAGAAAACCTGGAAGAGTTCCCACTCTACTCTTTAGTGACAGAGGTTTTGGGTGGGAGGTTTTCTAATGATACTTAATACTTAATAGTCATCTTTACAGTGATTCTTGTCACCTATGCAACCTATGTACCTGAGAAGATGTGAAAATCCTTAAACAAATGTTACTAGTAGGTTAAACATGCAACTCTCCTGCCCTTCCCCAATATGGTTTATTACACTGTTTTACCCTTAATTCATAGAAAATACACTATTGAGCAATTCCAAATTACTTGACTCTAGAATAACAAGGTTTTGTGACTGAAACTCAAATGAAAAGTGGTTGCTCGTGTGTTTTACAAGTCATGTTCTATTGTGACATTCTTTGTTCTTGAGTCTTAACTGTTAATGCTAATGGTTAAAAGCACAGTTTGGGACTCAAACTCACTTTAGCATTGGGGTTTGGTACAAATTATTTAGCTCTTCTAAGGCTCAGTTGTAAAATAAAGGTAATGCTCTGTGGTGTGAGGTGAGCTGGGGTGATGCCTGTAGGTCCTTGCATTGTGCTCTGTGCAGAGGAAGTTACGCAGTACATGGTACTTATGTTTGGTACATGGTTTGGCTTCTCTGCTGAACAGAGAAAAGAGTCTGGTTGGAGTCCATTTTTAGAGAAAGGGGTCTGATTGGAGTCCATTTTTATTAATTTGCTTTTCAAAGTAACTCCCTGCTTCAATTCATTCTCTCCTACTCTAGATTCAGTTTAAGGAGAAAGTGCTGTGGACCGCTATCACCCTCTTTATCTTCTTAGTGTGCTGCCAGGTAAGCTCAGGCTTGTATTTCGTATTGGGGAGGGGGATAAGAGTGGCTGGAAACAGGAGTGCTGACTGTTTTGCTCTTTGCCTGTTCCCAGATTCCCCTGTTTGGGATCATGTCTTCAGATTCAGCTGACCCTTTCTATTGGATGAGAGTGATTCTAGCCTCTAACAGAGGTAGGACTCTGGCTCTGTCTTTTCTCTGTAGAGTGTAGGCTTACCTAGCTTCACTTAGTTAAATTAATAGGCTTTGGCTTTATATGGAACTTAGAGAGTGACTTGGAAAATAGAGTGAAGAATGTTAAAGTGCTGTGTTGAATAGCCTTATTAAATGCTGAGTTCAGCACCAAGGCATACCATCATATTTGGAATTGTATTTGAATGCAGTACAAAACCTGTAATGAGAAGATAAGTCTATGCTATAGAGAGAATAAAAAACATGGAAAAACTAGAATACTTTTTGAATACCTGAAATGATGACATTTCCATTGATAACATTCTTCAGAATATGTAATTTGTTTTTCAGCTGTATCTTTTTCATATCTATAGGTTACATATAGTGTCAAAAAATATGTAACAGTGTTTTATATCCTCTAACCAGTTACTTATGGGACTGGGGAGGATTCTGAATGTGTAGGTTGATACTGCATTTGATTAACTCATTTAAAAAATATAGTTCAATTAAATTCCAAATCAGTTGGAAGTGTAGCTCATTTTAACATAATGGGAAGTAGAGGCTTATTCACAACTAGATACAATTGTACAGGCTCCTTTTCCAGACTCTGGAAATTATTTGAATGTTATCCTTTTTTTATTAACTGATGAAGAGACGAACATTTCTTATCTCTAAAACCAGAATGAATCTGTTTATGGTGAATTTAAATGCAGCAGTCTGTTTAGACACCATGTGACTTCCTAAACAGAATAAGCTGTTGCCTGGCAGGCTGAACAGAATGAATTGAATTATATACTAATCGTTGATATTTTGGGGTTCTAAATTAAACACAGCTAGGAAACTGAAACACATTGGTTTTATATAAGGGGTACCCAGTCAAATTTTGCGTATTCATTTTTAAAATAACGTACTACGTTTCCAAGCTGATATTGACTGTTTTGCTTCCCCGTTTCCTCAAGGCACATTGATGGAGCTAGGGATCTCTCCTATTGTCACGTCTGGCCTTATAATGCAACTCTTGGCTGGCGCCAAGATAATTGAAGTTGGTGACACCCCAAAAGACCGAGCTCTCTTCAACGGAGCCCAAAAGTGTAAGAAAGATTGTGAATAATCTGATGTCTATAGTTGGAAAATTTGAATTTGCTATAAGATTTTGGTATCAGTTTTTCTTTTTTTATTTATTTTTTATTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGACGCAGTCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGATTTCACTACATAGGCCATGCTGGTCTTGAACTCCTGATCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCAAACAGTATTTTCTTTTGTGCTGCAACCTCCTTGGCCTGCCAACCCTGCAGGAGCTCCATGCCCTGTGTTAGCGTGAGAGAGCACTTCTGGTAGAGCAGAGGTGGTGGGTGCTGGGGATGGGCTGGGCAAGGCAGGGGAGAGTGTCTGGAGTGCCCCTGAGGCCATGTAATGGAGGAGAAGGATCAGAGCTTGGAGGTCTTAGCACCCTTGGCCACCATTTCATTATTGCTTAAAAGGAAGTAATGGCTACTTCAGAGCTGTCATAAGGATTAAATAATCACTGTCACAATGCCTGGCACATAGTAGTTATTTGGCAAGTGTTTTATAAAAGAATTTAACTGACTGGGGGGCGGTGGCTCACGCCTGTAACCCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATCTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGACAAGGTGCCTTAATCCCAGCTACTTGAGAGGCAGAGGCAGGAGAATTGTTT
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TTTAATGGACGAATTTGTAAAGCTTTACCCCCTCAATTCCAGTGTAGCGAAGGGGCATGGCTCTGGAGGCAGGCAAGCCTAGGTCCCACCCTTTACATAGCACCTTAATAGCTATGTGACCTTGGCCTTGTAACTCAGTGTGGTAGACGGAACAAGGGAAATACGTGCAAGGTATAGCAGTGGCTCAGGAAGGGATTAACTCTGGGAGACATGATGTCTTATGGTGGTTTTGAAGGAGAAATAGAAGTCTCCTTGAAGGGACGGAAAGGAATTCCAAATAAAAGGAGTATATAGTTTGCAAAGGCATTGGTGACAAGAGTGTAGCATGTTTGGATGGGAGGTTATTAGATGTAGTTGCTATTGATAGAACATAATTGTAGGTGGGGAACATTAGGAGATGAATAACAAGGGCCAGACATGAGAATGTCACTTTGGAAGAAAAGGAGAGGACTAGAGTTGGTTTAGAGGCTTTTCACATCAGAGGATGAACTGTGGTACTGAGCAAGAATGGATTTAGGGGCTACTAAGAAGCAGAGGAGACAGGACTTGGATAAAGAGCTTTTGGGGTTTTGATGTTAAATTTGATTGTAACCAGGAGAGAGGACTTGGTGATTAGAAAGGGAGTTTTGAAAAAATTGTCTGCTCTTTGTTTCCCATCAAGATTCATTTCAGACAGGTTACTCTGAAATGGCGTTGCCTTCTCTTGGCCACTTTCTAATTTCTTAGTGTGGTGGGATGGTAGGTGGGAAGAGGACCATTCTCAAGAGAAGAAGAGTCCTGTGAATGCCCCCAGCTTTGGATGGAGTATCTGAACACTGATTCACCCACTGTTGTGTGGCCGTATGACTGTGTCCTACTTTGCCTGCATGTATAGTTAGAGGACTGTGACTCCAGTTCTGGCCAGAGGGCCAGGAATGCTGACTCAGTGCCTGCCTAGAAGTGTTTTTAAAGAACACAGTTTTGTCACTTAATACTGTCAGTCTCTCACAAGGTATTTCAACCTCAGAATCTTCCGTCTGTACAATAATTAATGTTTGTTAAGCCCTCTAAAGCCATTAATGTAGTGTAGGCAGCAGGTATTAGTGAAGACACTCAGTTTCAGAGGCAGAAAACCTGGAAGAGTTCCCACTCTACTCTTTAGTGACAGAGGTTTTGGGTGGGAGGTTTTCTAATGATACTTAATACTTAATAGTCATCTTTACAGTGATTCTTGTCACCTATGCAACCTATGTACCTGAGAAGATGTGAAAATCCTTAAACAAATGTTACTAGTAGGTTAAACATGCAACTCTCCTGCCCTTCCCCAATATGGTTTATTACACTGTTTTACCCTTAATTCATAGAAAATACACTATTGAGCAATTCCAAATTACTTGACTCTAGAATAACAAGGTTTTGTGACTGAAACTCAAATGAAAAGTGGTTGCTCGTGTGTTTTACAAGTCATGTTCTATTGTGACATTCTTTGTTCTTGAGTCTTAACTGTTAATGCTAATGGTTAAAAGCACAGTTTGGGACTCAAACTCACTTTAGCATTGGGGTTTGGTACAAATTATTTAGCTCTTCTAAGGCTCAGTTGTAAAATAAAGGTAATGCTCTGTGGTGTGAGGTGAGCTGGGGTGATGCCTGTAGGTCCTTGCATTGTGCTCTGTGCAGAGGAAGTTACGCAGTACATGGTACTTATGTTTGGTACATGGTTTGGCTTCTCTGCTGAACAGAGAAAAGAGTCTGGTTGGAGTCCATTTTTAGAGAAAGGGGTCTGATTGGAGTCCATTTTTATTAATTTGCTTTTCAAAGTAACTCCCTGCTTCAATTCATTCTCTCCTACTCTAGATTCAGTTTAAGGAGAAAGTGCTGTGGACCGCTATCACCCTCTTTATCTTCTTAGTGTGCTGCCAGGTAAGCTCAGGCTTGTATTTCGTATTGGGGAGGGGGATAAGAGTGGCTGGAAACAGGAGTGCTGACTGTTTTGCTCTTTGCCTGTTCCCAGATTCCCCTGTTTGGGATCATGTCTTCAGATTCAGCTGACCCTTTCTATTGGATGAGAGGGATTCTAGCCTCTAACAGAGGTAGGACTCTGGCTCTGTCTTTTCTCTGTAGAGTGTAGGCTTACCTAGCTTCACTTAGTTAAATTAATAGGCTTTGGCTTTATATGGAACTTAGAGAGTGACTTGGAAAATAGAGTGAAGAATGTTAAAGTGCTGTGTTGAATAGCCTTATTAAATGCTGAGTTCAGCACCAAGGCATACCATCATATTTGGAATTGTATTTGAATGCAGTACAAAACCTGTAATGAGAAGATAAGTCTATGCTATAGAGAGAATAAAAAACATGGAAAAACTAGAATACTTTTTGAATACCTGAAATGATGACATTTCCATTGATAACATTCTTCAGAATATGTAATTTGTTTTTCAGCTGTATCTTTTTCATATCTATAGGTTACATATAGTGTCAAAAAATATGTAACAGTGTTTTATATCCTCTAACCAGTTACTTATGGGACTGGGGAGGATTCTGAATGTGTAGGTTGATACTGCATTTGATTAACTCATTTAAAAAATATAGTTCAATTAAATTCCAAATCAGTTGGAAGTGTAGCTCATTTTAACATAATGGGAAGTAGAGGCTTATTCACAACTAGATACAATTGTACAGGCTCCTTTTCCAGACTCTGGAAATTATTTGAATGTTATCCTTTTTTTATTAACTGATGAAGAGACGAACATTTCTTATCTCTAAAACCAGAATGAATCTGTTTATGGTGAATTTAAATGCAGCAGTCTGTTTAGACACCATGTGACTTCCTAAACAGAATAAGCTGTTGCCTGGCAGGCTGAACAGAATGAATTGAATTATATACTAATCGTTGATATTTTGGGGTTCTAAATTAAACACAGCTAGGAAACTGAAACACATTGGTTTTATATAAGGGGTACCCAGTCAAATTTTGCGTATTCATTTTTAAAATAACGTACTACGTTTCCAAGCTGATATTGACTGTTTTGCTTCCCCGTTTCCTCAAGGCACATTGATGGAGCTAGGGATCTCTCCTATTGTCACGTCTGGCCTTATAATGCAACTCTTGGCTGGCGCCAAGATAATTGAAGTTGGTGACACCCCAAAAGACCGAGCTCTCTTCAACGGAGCCCAAAAGTGTAAGAAAGATTGTGAATAATCTGATGTCTATAGTTGGAAAATTTGAATTTGCTATAAGATTTTGGTATCAGTTTTTCTTTTTTTATTTATTTTTTATTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGACGCAGTCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGATTTCACTACATAGGCCATGCTGGTCTTGAACTCCTGATCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCAAACAGTATTTTCTTTTGTGCTGCAACCTCCTTGGCCTGCCAACCCTGCAGGAGCTCCATGCCCTGTGTTAGCGTGAGAGAGCACTTCTGGTAGAGCAGAGGTGGTGGGTGCTGGGGATGGGCTGGGCAAGGCAGGGGAGAGTGTCTGGAGTGCCCCTGAGGCCATGTAATGGAGGAGAAGGATCAGAGCTTGGAGGTCTTAGCACCCTTGGCCACCATTTCATTATTGCTTAAAAGGAAGTAATGGCTACTTCAGAGCTGTCATAAGGATTAAATAATCACTGTCACAATGCCTGGCACATAGTAGTTATTTGGCAAGTGTTTTATAAAAGAATTTAACTGACTGGGGGGCGGTGGCTCACGCCTGTAACCCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATCTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGACAAGGTGCCTTAATCCCAGCTACTTGAGAGGCAGAGGCAGGAGAATTGTTT
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Task1_train_7476
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Gene SEC61A1 (SEC61 translocon subunit alpha 1), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Hyperuricemic nephropathy, familial juvenile type 4
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AAAAATTAGGATTCTAAAATACACACATGTGGCTGGGAGCGGTGGCTCATACTTGTATCCCAGCACTTTGGGAGGCCAAGGCAGGATGATTGCTTGAGGCCAGGAGTTCGTGACTAGCCTGGGTAACACAGTGAGAGAGACCCCATCTCTACAAAACAACAACAACAAATTAGCCAAGTGTGGTGATGCACCTGTAGTTCTAGCTACTAGGGAGGCTGAGGTGGGAGGATCACTTAAGCCCAGGAGTTTGAGGCTGCTAGTGCACCACTGCACTCCTGCCCGGGCAACAGAGCCTGTCTCTTAAAACAAAACAAAAAACACTAAGAAAACAAAAAAAGTACAAGCACAAATTGGCTGTTTTCTCTTTGGTCTTCACAATGTTTTGAATGTTTTCCTGCATTAAGAACTAATTGTTGTGGAGCACTTTTTAAAAAGTCAAATAGGGACTGTATTTGATGGCCACTTTGGAGTAAAATTAATTTTACATGACAGATTAAATAGGAAAGCTGAAACTGAAGGTCAGACTGTACTTAGAGGACCCATCTAGTACTGTGGAACTTGTCAAATGTGTCCATTCCCTTGTGCCTAACAGTGAAATAGAGTGAGTTGTAAGAAATGAAGACACCCTACAAAAAGGAAAGCTTTTGCCAGGCGTGGCTCATGTCTGTAATCCCCGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTGGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTACACTAAAAATACAAAAAATTAGCTGGCTGTGGTGGCACGTGCCTGTAATCCTAGCTACTCCAGAGGCTGAGGCAGGAAAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACCGTACTCCAGCCTGGGCGACAGAGACTCCGTCTCAAAAAAAAAAAAAAGGAAAGCTTCTATTAGACCAAAATAGCTTGGTACCTAAGGGAATGGGAAGAGCAGCCAAATCAATGGTACGTGGGGTTTTCCTTTTAAAAGCACATTAAATAAAAACTTGAGAAGGGATCACTTTACCCCAGAGCTAATAATTCTGTCCTCTGGACCCAGACCTGGATGGTGAGCCTAGAGAGGTGGCCCAAATCTGTAGTTCAGCTCTTGAGCCATCGAGACCCCAAGTGCCTGACATTGAGTTTGGGTGCTGCAGGTGTGACATCTCCAGATTGTGTCTCCGGATGCTGTCAGGAGTAGGTTCTACTCCCTGATTTTCTTTGAATAGAACAAATTTTCCAAGTTTCACTTTTACTCCTCCCATGACTAAAAAGCAAGTGAATCTAGGAAAAGGTAAAACTAAAGAAGAAGTGTGCTTTTGTTAAAAGGCTTTTGATTCATCATGTACTTTGCTGATGTGATGGTTTAGCGCGTTCTCAGCCGAGCCCCTTGGAGGTAGTATCACTGCTCTTCATCTTTGTTCTCCCCCGTGCCTGGCGTTGAATTGGTGTTTCTTAATTGTTTCTTTTGTTCTGTGTAGTGACCCACTTGGAAAACACTTCTTTCTTTCAATTCTAGTATTTGGCATGATCATTACTATCGGCCAGTCTATCGTGTATGTGATGACCGGGATGTATGGGGACCCTTCTGAAATGGGTGCTGGAATTTGCCTGCTAATCACCATTCAGGTAATTATTATGCTAACATCTCCCTTTGAGTAGCCCCTCACACTTACCTACAATTCTCACATAACGAATCTCAAGCACACCTAAAAGGAACTCCTACTGAAAGGAAGCAGAAGCCTAAGACTCTGGGTTAGCCCTCTGAATTCAGCAGAGAAAGGCTTTACTGACCGCTCTCTGGGGCTGAGGATGTGATCTCATTCCGTCTTCAGCGTTTATATCAGAGAACCCAATTACTGAAGGACGGAACCATGTCCGTGGGGAGCAGTAACACATAGTCTTGTATTTTTGAATTTTTACAGCTCTTTGTTGCTGGCTTAATTGTCCTACTTTTGGATGAACTCCTGCAAAAAGGATATGGCCTTGGCTCTGGTATTTCTCTCTTCATTGCAACTAACATCTGTGAAACCATCGTATGGAAGGCATTCAGCCCCACTACTGTCAACACTGGCCGAGGTAAGGGCCCTGTGCTCCCCTGGTGGCGACAGCTTTCAGCAAAAACAATTGAGCAATGCAAAGCAGAAGACAAAAATCCCCCCATTCCACAGAAAAATAATGTCAGTTTTAGGTTTATCTCTTCTGGTGTTTGGGTCCATCTGCAAAGTTTTAAAAACACAAATAGGCTTGTAATTATGATGATACCTAACTTGCACTTTTCATATAAAAATATCTCCTGGACGTTTGGCACGTCAGAATACACAATCCTGCCTCACTTTTCTTAGCACAGTATAAGCTTATATTGCAACGATAAAGCAACGTTAAGTCATTTCCAGGTTTTTTTATCGTTAACATTGAAACCATGACTGTCCTCATATGTTCATCTTTGTATATTTTGGCAGCTGCTCTCAGTGAATAAGTTTCTAAAAATGAAATTCCTAAACCAAAGCACTTGGTCATGCAAGGGGCAGCTTTCTGAAAAAGGCCTGAACTTGGAGCTTAGCACCTGCGTTCAAATCCTGGCTGTTCCTGTTAGTCATACATACGTGGCTTTGGGCAGATTCCTGCACCACTGAATCTTGGTTACCAGGATGCAGTGAGAAGCAACATGAAATTACATGATGCCTGGCTCCTGGTAGATGTGTATCAAACATTGGCATGCTGTGCTACATCCACCAAGTGCCGTGGAAATCTTGTAACAGCATGTTTTTAATAAAAAGTTCAAAACATACAAGGGAAGCCTTAGAGAGTGTGACTTATTAGGGAAAGGAAATAAACATTTTTTGGCACTAAATATCTTCTTCACTGAGGAGCATTCCAGGAGAAATAATCATGCATATTTGAGAGTTTTCTTTTAATTGAATGTTGGAAACAGAGTCCTTGGCCTCCAGAGACCATATTATCTCATTAATGAGATGGAAAACTGGTCCCCAAACAAGTGAAGGCTGCATGTGCCTAACAGGTTACAAAGGAGAGTGGAGCTTGAGATAGGGAGCCATAGAGAAGAGTGGGCAAGATCACATTTGATGCTTCCTTGAGTACTTTGTATAAATTTAGGAAATCCAAGGTAAATTGGGAGAAGCAGGTCCAGAAGGCAAAGTTTGACAGGATGTGAAAAGGCAAGAGGGGGATGGCATTGTAGGAGTTCAGGTATTTGTCAAGACCATCATGGTGACTGGCTTTTGGGGAGTGCCTGAGTGGGAAGGAAGTAAAGTCAGAGGGGAGCCCCTGGTGGCTTAGCAGCCCAGTAGTAGCCGCCAGAGGCTCATGTTCCATTCTGCAGCAGGGCATTGAGTAATGGGAGCCAGAGTTTGGAAGAAGTGATTTGCTCTGCACTGAAAGGCAGAGAGAGCAGCTAGGTGCGTGCAGCAGTAATCCAGCCCCAATTAAGCCATCCTACAGGAGAGCACTGTGTGAGGGCATTTGGAGGAAGCAAGTTGAGAGAGGGGACCAGAGAGGCACTTTCAAGGTGGGGGAAAACTAAGAAGCAAAGGTGGATTTGTCTGGCCTTGAAGTCAGTGTGTCTACATGTCAGTTGCTCGTGTTTGGGACCTGGCTGACACGAGATGCATTCAGGAAGGGCTGTGCCCCATGGCCTGCATGTGGGCAGTGAGTGGTGCTAGAGGGAGAGCCTAGGGAGGGGCAGGGAGAGCCACACAGAGGGCACAGCTGGGACGGCAGCTTTGCAGCTGTGCCTGGAGATGTTGCAGCTTGGCTTGGGACAGGGGAGGCTGTTGAATGAGATTCTACAGGCAGAGACAGTAATCACTGCTGCTTCCCTGGGCAGCAGGAACAATGCAGAACTGGGAATTAGTCCCAAATTTGAAACCGTGGGGAAACAGGCCAGCCTTGTCACACAGGACCAAAAGGTGGAAAGGATGGGAATTGACGAAAGACCGCCACAGGGTGAGATGAGGACATGATGGCCAGTTAGGATATGGTGTCTCTTTCACAGAAGCCACAGCAGAGGAGGTCAGTGGTCATATTGGTTAGATGGTCTGCC
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AAAAATTAGGATTCTAAAATACACACATGTGGCTGGGAGCGGTGGCTCATACTTGTATCCCAGCACTTTGGGAGGCCAAGGCAGGATGATTGCTTGAGGCCAGGAGTTCGTGACTAGCCTGGGTAACACAGTGAGAGAGACCCCATCTCTACAAAACAACAACAACAAATTAGCCAAGTGTGGTGATGCACCTGTAGTTCTAGCTACTAGGGAGGCTGAGGTGGGAGGATCACTTAAGCCCAGGAGTTTGAGGCTGCTAGTGCACCACTGCACTCCTGCCCGGGCAACAGAGCCTGTCTCTTAAAACAAAACAAAAAACACTAAGAAAACAAAAAAAGTACAAGCACAAATTGGCTGTTTTCTCTTTGGTCTTCACAATGTTTTGAATGTTTTCCTGCATTAAGAACTAATTGTTGTGGAGCACTTTTTAAAAAGTCAAATAGGGACTGTATTTGATGGCCACTTTGGAGTAAAATTAATTTTACATGACAGATTAAATAGGAAAGCTGAAACTGAAGGTCAGACTGTACTTAGAGGACCCATCTAGTACTGTGGAACTTGTCAAATGTGTCCATTCCCTTGTGCCTAACAGTGAAATAGAGTGAGTTGTAAGAAATGAAGACACCCTACAAAAAGGAAAGCTTTTGCCAGGCGTGGCTCATGTCTGTAATCCCCGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTGGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTACACTAAAAATACAAAAAATTAGCTGGCTGTGGTGGCACGTGCCTGTAATCCTAGCTACTCCAGAGGCTGAGGCAGGAAAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACCGTACTCCAGCCTGGGCGACAGAGACTCCGTCTCAAAAAAAAAAAAAAGGAAAGCTTCTATTAGACCAAAATAGCTTGGTACCTAAGGGAATGGGAAGAGCAGCCAAATCAATGGTACGTGGGGTTTTCCTTTTAAAAGCACATTAAATAAAAACTTGAGAAGGGATCACTTTACCCCAGAGCTAATAATTCTGTCCTCTGGACCCAGACCTGGATGGTGAGCCTAGAGAGGTGGCCCAAATCTGTAGTTCAGCTCTTGAGCCATCGAGACCCCAAGTGCCTGACATTGAGTTTGGGTGCTGCAGGTGTGACATCTCCAGATTGTGTCTCCGGATGCTGTCAGGAGTAGGTTCTACTCCCTGATTTTCTTTGAATAGAACAAATTTTCCAAGTTTCACTTTTACTCCTCCCATGACTAAAAAGCAAGTGAATCTAGGAAAAGGTAAAACTAAAGAAGAAGTGTGCTTTTGTTAAAAGGCTTTTGATTCATCATGTACTTTGCTGATGTGATGGTTTAGCGCGTTCTCAGCCGAGCCCCTTGGAGGTAGTATCACTGCTCTTCATCTTTGTTCTCCCCCGTGCCTGGCGTTGAATTGGTGTTTCTTAATTGTTTCTTTTGTTCTGTGTAGTGACCCACTTGGAAAACACTTCTTTCTTTCAATTCTAGTATTTGGCATGATCATTACTATCGGCCAGTCTATCGTGTATGTGATGACCGGGATGTATGGGGACCCTTCTGAAATGGGTGCTGGAATTTGCCTGCTAATCACCATTCAGGTAATTATTATGCTAACATCTCCCTTTGAGTAGCCCCTCACACTTACCTACAATTCTCACATAACGAATCTCAAGCACACCTAAAAGGAACTCCTACTGAAAGGAAGCAGAAGCCTAAGACTCTGGGTTAGCCCTCTGAATTCAGCAGAGAAAGGCTTTACTGACCGCTCTCTGGGGCTGAGGATGTGATCTCATTCCGTCTTCAGCGTTTATATCAGAGAACCCAATTACTGAAGGACGGAACCATGTCCGTGGGGAGCAGTAACACATAGTCTTGTATTTTTGAATTTTTACAGCTCTTTGTTGCTGGCTTAATTGTCCTACTTTTGGATGAACTCCTGCAAAAAGGATATGGCCTTGGCTCTGGTATTTCTCTCTTCATTGCAGCTAACATCTGTGAAACCATCGTATGGAAGGCATTCAGCCCCACTACTGTCAACACTGGCCGAGGTAAGGGCCCTGTGCTCCCCTGGTGGCGACAGCTTTCAGCAAAAACAATTGAGCAATGCAAAGCAGAAGACAAAAATCCCCCCATTCCACAGAAAAATAATGTCAGTTTTAGGTTTATCTCTTCTGGTGTTTGGGTCCATCTGCAAAGTTTTAAAAACACAAATAGGCTTGTAATTATGATGATACCTAACTTGCACTTTTCATATAAAAATATCTCCTGGACGTTTGGCACGTCAGAATACACAATCCTGCCTCACTTTTCTTAGCACAGTATAAGCTTATATTGCAACGATAAAGCAACGTTAAGTCATTTCCAGGTTTTTTTATCGTTAACATTGAAACCATGACTGTCCTCATATGTTCATCTTTGTATATTTTGGCAGCTGCTCTCAGTGAATAAGTTTCTAAAAATGAAATTCCTAAACCAAAGCACTTGGTCATGCAAGGGGCAGCTTTCTGAAAAAGGCCTGAACTTGGAGCTTAGCACCTGCGTTCAAATCCTGGCTGTTCCTGTTAGTCATACATACGTGGCTTTGGGCAGATTCCTGCACCACTGAATCTTGGTTACCAGGATGCAGTGAGAAGCAACATGAAATTACATGATGCCTGGCTCCTGGTAGATGTGTATCAAACATTGGCATGCTGTGCTACATCCACCAAGTGCCGTGGAAATCTTGTAACAGCATGTTTTTAATAAAAAGTTCAAAACATACAAGGGAAGCCTTAGAGAGTGTGACTTATTAGGGAAAGGAAATAAACATTTTTTGGCACTAAATATCTTCTTCACTGAGGAGCATTCCAGGAGAAATAATCATGCATATTTGAGAGTTTTCTTTTAATTGAATGTTGGAAACAGAGTCCTTGGCCTCCAGAGACCATATTATCTCATTAATGAGATGGAAAACTGGTCCCCAAACAAGTGAAGGCTGCATGTGCCTAACAGGTTACAAAGGAGAGTGGAGCTTGAGATAGGGAGCCATAGAGAAGAGTGGGCAAGATCACATTTGATGCTTCCTTGAGTACTTTGTATAAATTTAGGAAATCCAAGGTAAATTGGGAGAAGCAGGTCCAGAAGGCAAAGTTTGACAGGATGTGAAAAGGCAAGAGGGGGATGGCATTGTAGGAGTTCAGGTATTTGTCAAGACCATCATGGTGACTGGCTTTTGGGGAGTGCCTGAGTGGGAAGGAAGTAAAGTCAGAGGGGAGCCCCTGGTGGCTTAGCAGCCCAGTAGTAGCCGCCAGAGGCTCATGTTCCATTCTGCAGCAGGGCATTGAGTAATGGGAGCCAGAGTTTGGAAGAAGTGATTTGCTCTGCACTGAAAGGCAGAGAGAGCAGCTAGGTGCGTGCAGCAGTAATCCAGCCCCAATTAAGCCATCCTACAGGAGAGCACTGTGTGAGGGCATTTGGAGGAAGCAAGTTGAGAGAGGGGACCAGAGAGGCACTTTCAAGGTGGGGGAAAACTAAGAAGCAAAGGTGGATTTGTCTGGCCTTGAAGTCAGTGTGTCTACATGTCAGTTGCTCGTGTTTGGGACCTGGCTGACACGAGATGCATTCAGGAAGGGCTGTGCCCCATGGCCTGCATGTGGGCAGTGAGTGGTGCTAGAGGGAGAGCCTAGGGAGGGGCAGGGAGAGCCACACAGAGGGCACAGCTGGGACGGCAGCTTTGCAGCTGTGCCTGGAGATGTTGCAGCTTGGCTTGGGACAGGGGAGGCTGTTGAATGAGATTCTACAGGCAGAGACAGTAATCACTGCTGCTTCCCTGGGCAGCAGGAACAATGCAGAACTGGGAATTAGTCCCAAATTTGAAACCGTGGGGAAACAGGCCAGCCTTGTCACACAGGACCAAAAGGTGGAAAGGATGGGAATTGACGAAAGACCGCCACAGGGTGAGATGAGGACATGATGGCCAGTTAGGATATGGTGTCTCTTTCACAGAAGCCACAGCAGAGGAGGTCAGTGGTCATATTGGTTAGATGGTCTGCC
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Task1_train_7477
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Gene GATA2 (GATA binding protein 2), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Deafness-lymphedema-leukemia syndrome
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCAGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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Task1_train_7478
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Mutation context: Chromosome 3, Gene GATA2 (GATA binding protein 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; GATA2 deficiency with susceptibility to MDS/AML
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCAGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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Task1_train_7479
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The variant affects gene GATA2 (GATA binding protein 2), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Deafness-lymphedema-leukemia syndrome
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCAGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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Task1_train_7480
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Gene GATA2 (GATA binding protein 2) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Monocytopenia with susceptibility to infections
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCAGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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Task1_train_7481
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This alteration in GATA2 (GATA binding protein 2) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Inborn genetic diseases
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCAGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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Task1_train_7482
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Located on Chromosome 3, this mutation impacts GATA2 (GATA binding protein 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Leukemia, acute myeloid, susceptibility to
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCAGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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Task1_train_7483
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Gene GATA2 (GATA binding protein 2) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Monocytopenia with susceptibility to infections
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCAGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTT
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Task1_train_7484
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The gene GATA2 (GATA binding protein 2) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Deafness-lymphedema-leukemia syndrome
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AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGC
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AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCTGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGC
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Task1_train_7485
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This alteration in GATA2 (GATA binding protein 2) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; GATA2 deficiency with susceptibility to MDS/AML
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AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGC
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AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCTGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGC
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Task1_train_7486
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Here’s a variant in GATA2 (GATA binding protein 2) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Deafness-lymphedema-leukemia syndrome
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AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGC
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AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCTGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGC
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Task1_train_7487
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A variant on Chromosome 3 in gene GATA2 (GATA binding protein 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Monocytopenia with susceptibility to infections
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AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGC
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AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACTAATCCAAAATAAAACAAGCCAAATAAAACATAAAAACAGAAAATACTGCCGATTCTTTTTCTTATGCGGACACTAGTACAAAATAAGTTACTTCTGGCCGTGGTGCTCCCTGCAGCGACTGCCCGCCCATATTGCACTTGGTCACTACATCAGCACAATCCTCCTCCTGGGCCAGGGGCCCCTCACAGGCCACCACACCCCGCCGTCACCGCATACAGAATCTAAGCTCGGGACACGTTTATATACAGCTGTACCTTGGGAAGGATCCAGACAGCCACAGTAAAGCTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCTGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGC
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Task1_train_7488
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A variant has been detected on Chromosome 3 in GATA2 (GATA binding protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Deafness-lymphedema-leukemia syndrome
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CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCAT
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CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGAGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCAT
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Task1_train_7489
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Assess the clinical impact of this variant on gene GATA2 (GATA binding protein 2), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; GATA2 deficiency with susceptibility to MDS/AML
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CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCAT
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CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGAGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCAT
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Task1_train_7490
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Here is a genetic alteration in GATA2 (GATA binding protein 2) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Inborn genetic diseases
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CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCAT
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CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGTGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCAT
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Task1_train_7491
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Given this variant in gene GATA2 (GATA binding protein 2) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; GATA2 deficiency with susceptibility to MDS/AML
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CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCAT
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CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGTGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCAT
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Task1_train_7492
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The gene GATA2 (GATA binding protein 2), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Deafness-lymphedema-leukemia syndrome
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CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCAT
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CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGTGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCAT
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Task1_train_7493
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Here is a genetic alteration in GATA2 (GATA binding protein 2) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; GATA2 deficiency with susceptibility to MDS/AML
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AGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGT
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AGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGTTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGT
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Task1_train_7494
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This genomic variant is located on Chromosome 3, within the GATA2 (GATA binding protein 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Deafness-lymphedema-leukemia syndrome
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AGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGT
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AGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGTTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGT
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Task1_train_7495
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A genetic alteration is present in GATA2 (GATA binding protein 2) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Deafness-lymphedema-leukemia syndrome
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GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGC
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GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCATCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGC
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Task1_train_7496
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The gene GATA2 (GATA binding protein 2), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; GATA2 deficiency with susceptibility to MDS/AML
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GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGC
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GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCATCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGC
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Task1_train_7497
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An alteration has been detected in GATA2 (GATA binding protein 2) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Monocytopenia with susceptibility to infections
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GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGC
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GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCATCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGC
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Task1_train_7498
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Here is a variant affecting GATA2 (GATA binding protein 2) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Deafness-lymphedema-leukemia syndrome
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GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGC
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GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCATCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGC
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Task1_train_7499
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A mutation found in GATA2 (GATA binding protein 2) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; GATA2 deficiency with susceptibility to MDS/AML
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GACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGCC
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GACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGGCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGCC
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Subsets and Splits
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