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_23100
|
A variant was discovered in gene FANCA (FA complementation group A), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Fanconi anemia
|
ACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCTCCAGGTGTAACCAGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAA
|
ACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCCCCAGGTGTAACCAGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAA
|
Task1_train_23101
|
Gene FANCA (FA complementation group A), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Fanconi anemia complementation group A
|
CCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCTCCAGGTGTAACCAGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAG
|
CCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCTTCAGGTGTAACCAGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAG
|
Task1_train_23102
|
Consider a variant on Chromosome 16 in gene FANCA (FA complementation group A). Determine its clinical classification and disease relevance.
|
Pathogenic; Fanconi anemia complementation group A
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GGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCTCCAGGTGTAACCAGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGAC
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GGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCTCCAGGTGTAACCGGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGAC
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Task1_train_23103
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This variant impacts the gene FANCA (FA complementation group A) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Fanconi anemia complementation group A
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TTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCGTCTGTACTAAAGATACCAAAATTAGTCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGACTGCACCACTGAGCACAGCGAGACGTTGTCTCAAAAAATATATCAGTAAAAATAAAAAAAGAAGTTCGTGTTGGGAGAAACTGAGAAAGTATAGCAGGGTTTCTCTGTATTTATTAATATATTTTTTTGAGACAGGGTCTTGCTGTGTCATCCTGGCTGGAATAGAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAACCAAAGGTGCACACAACTGTGCCCAGCTAATTTTTGCATTCTTTGTAGAGATGGGGTTTCACTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGTTCAGGTGATCAACCCGCCTTGGCCTCCCACAGTGCTGGGATCACAGGTGTGAGCACCGTGCCCAGTATCTGTATAATTTCTTAAGAGCTGCACATGAGGCCACAACGATTTTAGTCAAGATTCCAATCAAACCATCTAAGTGCTGCTGTTCTTGCCTCTGAGGAGACAGTCGGCACACGCACCCTAGACTCGAGACGAGGAGACAGTCGGCACACACACACCCTAGACTCGGGACGTGGCATGATGCAGGGGAAGGAACGGTCACCTACGTGCTGCTGTTCTTGCCCGAGGAGCACACACAAACCCTAGACTCAGGACGTGGCATGATGCAGGAGAAGGAACGGTCACCTACGTGAACATCTTCCTCTTTCAACACCTCTCGGAAGGTTCTGTGTGTCCAGAGAGAGAGGGCAGCTCTCTGCCAGTCTGCAGAAGGAAGGTGCAAGGGTCTCCAGGAAAGGCTGGCTACGTCCTCCTCAGAAAGAGGCTGTCGGGCCTCTGAGAACAATCTGAACATGAGGAACTGAAACTGAAACAGAGAGTGACCCGGCCGTTTCTTCATTGCGCAAGTTTCACTGTGAGTGGCTGAGCAAATGCTCAGGTGGAAACAGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACT
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TTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCGTCTGTACTAAAGATACCAAAATTAGTCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGACTGCACCACTGAGCACAGCGAGACGTTGTCTCAAAAAATATATCAGTAAAAATAAAAAAAGAAGTTCGTGTTGGGAGAAACTGAGAAAGTATAGCAGGGTTTCTCTGTATTTATTAATATATTTTTTTGAGACAGGGTCTTGCTGTGTCATCCTGGCTGGAATAGAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAACCAAAGGTGCACACAACTGTGCCCAGCTAATTTTTGCATTCTTTGTAGAGATGGGGTTTCACTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGTTCAGGTGATCAACCCGCCTTGGCCTCCCACAGTGCTGGGATCACAGGTGTGAGCACCGTGCCCAGTATCTGTATAATTTCTTAAGAGCTGCACATGAGGCCACAACGATTTTAGTCAAGATTCCAATCAAACCATCTAAGTGCTGCTGTTCTTGCCTCTGAGGAGACAGTCGGCACACGCACCCTAGACTCGAGACGAGGAGACAGTCGGCACACACACACCCTAGACTCGGGACGTGGCATGATGCAGGGGAAGGAACGGTCACCTACGTGCTGCTGTTCTTGCCCGAGGAGCACACACAAACCCTAGACTCAGGACGTGGCATGATGCAGGAGAAGGAACGGTCACCTACGTGAACATCTTCCTCTTTCAACACCTCTCGGAAGGTTCTGTGTGTCCAGAGAGAGGGGGCAGCTCTCTGCCAGTCTGCAGAAGGAAGGTGCAAGGGTCTCCAGGAAAGGCTGGCTACGTCCTCCTCAGAAAGAGGCTGTCGGGCCTCTGAGAACAATCTGAACATGAGGAACTGAAACTGAAACAGAGAGTGACCCGGCCGTTTCTTCATTGCGCAAGTTTCACTGTGAGTGGCTGAGCAAATGCTCAGGTGGAAACAGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACT
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Task1_train_23104
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This gene mutation involves FANCA, LOC130059837 (FA complementation group A| ATAC-STARR-seq lymphoblastoid active region 11420) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Fanconi anemia complementation group A
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ACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCGTCTGTACTAAAGATACCAAAATTAGTCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGACTGCACCACTGAGCACAGCGAGACGTTGTCTCAAAAAATATATCAGTAAAAATAAAAAAAGAAGTTCGTGTTGGGAGAAACTGAGAAAGTATAGCAGGGTTTCTCTGTATTTATTAATATATTTTTTTGAGACAGGGTCTTGCTGTGTCATCCTGGCTGGAATAGAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAACCAAAGGTGCACACAACTGTGCCCAGCTAATTTTTGCATTCTTTGTAGAGATGGGGTTTCACTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGTTCAGGTGATCAACCCGCCTTGGCCTCCCACAGTGCTGGGATCACAGGTGTGAGCACCGTGCCCAGTATCTGTATAATTTCTTAAGAGCTGCACATGAGGCCACAACGATTTTAGTCAAGATTCCAATCAAACCATCTAAGTGCTGCTGTTCTTGCCTCTGAGGAGACAGTCGGCACACGCACCCTAGACTCGAGACGAGGAGACAGTCGGCACACACACACCCTAGACTCGGGACGTGGCATGATGCAGGGGAAGGAACGGTCACCTACGTGCTGCTGTTCTTGCCCGAGGAGCACACACAAACCCTAGACTCAGGACGTGGCATGATGCAGGAGAAGGAACGGTCACCTACGTGAACATCTTCCTCTTTCAACACCTCTCGGAAGGTTCTGTGTGTCCAGAGAGAGAGGGCAGCTCTCTGCCAGTCTGCAGAAGGAAGGTGCAAGGGTCTCCAGGAAAGGCTGGCTACGTCCTCCTCAGAAAGAGGCTGTCGGGCCTCTGAGAACAATCTGAACATGAGGAACTGAAACTGAAACAGAGAGTGACCCGGCCGTTTCTTCATTGCGCAAGTTTCACTGTGAGTGGCTGAGCAAATGCTCAGGTGGAAACAGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCC
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ACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCGTCTGTACTAAAGATACCAAAATTAGTCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGACTGCACCACTGAGCACAGCGAGACGTTGTCTCAAAAAATATATCAGTAAAAATAAAAAAAGAAGTTCGTGTTGGGAGAAACTGAGAAAGTATAGCAGGGTTTCTCTGTATTTATTAATATATTTTTTTGAGACAGGGTCTTGCTGTGTCATCCTGGCTGGAATAGAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAACCAAAGGTGCACACAACTGTGCCCAGCTAATTTTTGCATTCTTTGTAGAGATGGGGTTTCACTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGTTCAGGTGATCAACCCGCCTTGGCCTCCCACAGTGCTGGGATCACAGGTGTGAGCACCGTGCCCAGTATCTGTATAATTTCTTAAGAGCTGCACATGAGGCCACAACGATTTTAGTCAAGATTCCAATCAAACCATCTAAGTGCTGCTGTTCTTGCCTCTGAGGAGACAGTCGGCACACGCACCCTAGACTCGAGACGAGGAGACAGTCGGCACACACACACCCTAGACTCGGGACGTGGCATGATGCAGGGGAAGGAACGGTCACCTACGTGCTGCTGTTCTTGCCCGAGGAGCACACACAAACCCTAGACTCAGGACGTGGCATGATGCAGGAGAAGGAACGGTCACCTACGTGAACATCTTCCTCTTTCAACACCTCTCGGAAGGTTCTGTGTGTCCAGAGAGAGAGGGCAGCTCTCTGCCAGTCTGCAGAAGGAAGGTGCAAGGGTCTCCAGGAAAGGCTGGCTACGTCCTCCTCAGAAAGAGGCTGTCGGACCTCTGAGAACAATCTGAACATGAGGAACTGAAACTGAAACAGAGAGTGACCCGGCCGTTTCTTCATTGCGCAAGTTTCACTGTGAGTGGCTGAGCAAATGCTCAGGTGGAAACAGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCC
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Task1_train_23105
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Given this context: Chromosome 16, gene FANCA (FA complementation group A) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Fanconi anemia complementation group A
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ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTAAGAAATTGCTGCTGTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCC
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ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTCAGAAATTGCTGCTGTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCC
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Task1_train_23106
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The gene FANCA (FA complementation group A) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; FANCA-related disorder
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ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTAAGAAATTGCTGCTGTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCC
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ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTCAGAAATTGCTGCTGTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCC
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Task1_train_23107
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Given a variant located on Chromosome 16 and affecting FANCA (FA complementation group A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Fanconi anemia complementation group A
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TCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTAAGAAATTGCTGCTGTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCT
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TCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTAAGAAATTGCTGCTCTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCT
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Task1_train_23108
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Here is a variant affecting FANCA (FA complementation group A) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Fanconi anemia complementation group A
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CAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCC
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CAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGGGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCC
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Task1_train_23109
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This sequence variant lies in FANCA (FA complementation group A) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Fanconi anemia complementation group A
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CCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGAC
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CCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGGCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGAC
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Task1_train_23110
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This alteration occurs within gene FANCA (FA complementation group A) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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CAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCT
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CAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACACCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCT
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Task1_train_23111
|
An alteration has been detected in FANCA (FA complementation group A) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Fanconi anemia complementation group A
|
GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTC
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GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCAGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTC
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Task1_train_23112
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Mutation context: Chromosome 16, Gene FANCA (FA complementation group A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Fanconi anemia
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GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTC
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GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCAGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTC
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Task1_train_23113
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Consider a variant on Chromosome 16 in gene FANCA (FA complementation group A). Determine its clinical classification and disease relevance.
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Pathogenic; Fanconi anemia complementation group A
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ACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACA
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ACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCTCTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACA
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Task1_train_23114
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A variant on Chromosome 16 in gene FANCA (FA complementation group A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Fanconi anemia complementation group A
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ACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACA
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ACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTTCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACA
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Task1_train_23115
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Here is a genetic alteration in FANCA (FA complementation group A) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Fanconi anemia
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AGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCC
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AGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCGGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCC
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Task1_train_23116
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This mutation is located in gene FANCA (FA complementation group A) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Fanconi anemia complementation group A
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ACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATAC
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ACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGGCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATAC
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Task1_train_23117
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Given this context: Chromosome 16, gene FANCA (FA complementation group A) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Fanconi anemia complementation group A
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TATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGACATGGAGGCAGTCACCTGTAATCCTAGCAACTTGGGAGGCTGAGGCGGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAAAGAAACTGCATGTTCTCAATCCACAGATGAACATTTCTTACTCTGGATTTTACAGAAAACCATCACATGGAAGCAGGATCACAGGGCAGAGACCCTGTGTGTCTGATGTGACATCGACTCCGGCAGGCAGGATGAGCGGGAAAACAGGCATCCTAGTCACGCGTTTTCTTCTCTATCATCATTCGTCCTACTCAGATGCAACTAGCCGAATATTCACCTTCTGCCAAGGGTCTGTGACAGCTTCAGTAGGACTAGCCTTCCACCTTGTCTCAAAAAAGGTTCCACACCCGCCAGCCCGGGGTCAATCTTTAAACTACTGGACTACTAGGAAGACACACCAGCCTGATGTCACTATGGGGAAAATGGCCCAGCCACAGAGCTCCAACCACAGGCTGCACACATGAGACACAGCATGAGCTCCCATCCATCCTCACCATCACGCTGGCTGGGGTCTGTCATGGAGGCTCTCAGCTCTCCCAGTGCAGCTGTGAGCTGTCCCAGGGGCTCCTCAGCAGAGTTGGGTTCTGCCCTCACTCCCAGGGCTGCATCTGTGAGAAGAAGGAAGAAACCAGATGGAAAGACACTCAACAGGACTCTTCACTGCAAAAATAGAAACTTCACACAGTCAAATACAGAGCTGTGAACTTCCAAGCTGCTGTGTGTGGCAGACGGAGGGACTGGGAGTCTCTGAGGAGGTAAATGAGGTGTCTTCCCTGATGCTGGATGCCACATCGAAAATTACAATTATAAACGAGTTTCATAAAAAATTACATTTATAAACAAGTTTAAGAAAAAAAGCGGTTCTGTGTGCACCATCAATACCACTCCACCACCGTGAGAAGCATACACACGGAAGAAAACAAGGAGGATCGAGGGCTGGCGAGGGTGGGGACAGGATCACGGATAGGTGACCATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGG
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TATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCGTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGACATGGAGGCAGTCACCTGTAATCCTAGCAACTTGGGAGGCTGAGGCGGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAAAGAAACTGCATGTTCTCAATCCACAGATGAACATTTCTTACTCTGGATTTTACAGAAAACCATCACATGGAAGCAGGATCACAGGGCAGAGACCCTGTGTGTCTGATGTGACATCGACTCCGGCAGGCAGGATGAGCGGGAAAACAGGCATCCTAGTCACGCGTTTTCTTCTCTATCATCATTCGTCCTACTCAGATGCAACTAGCCGAATATTCACCTTCTGCCAAGGGTCTGTGACAGCTTCAGTAGGACTAGCCTTCCACCTTGTCTCAAAAAAGGTTCCACACCCGCCAGCCCGGGGTCAATCTTTAAACTACTGGACTACTAGGAAGACACACCAGCCTGATGTCACTATGGGGAAAATGGCCCAGCCACAGAGCTCCAACCACAGGCTGCACACATGAGACACAGCATGAGCTCCCATCCATCCTCACCATCACGCTGGCTGGGGTCTGTCATGGAGGCTCTCAGCTCTCCCAGTGCAGCTGTGAGCTGTCCCAGGGGCTCCTCAGCAGAGTTGGGTTCTGCCCTCACTCCCAGGGCTGCATCTGTGAGAAGAAGGAAGAAACCAGATGGAAAGACACTCAACAGGACTCTTCACTGCAAAAATAGAAACTTCACACAGTCAAATACAGAGCTGTGAACTTCCAAGCTGCTGTGTGTGGCAGACGGAGGGACTGGGAGTCTCTGAGGAGGTAAATGAGGTGTCTTCCCTGATGCTGGATGCCACATCGAAAATTACAATTATAAACGAGTTTCATAAAAAATTACATTTATAAACAAGTTTAAGAAAAAAAGCGGTTCTGTGTGCACCATCAATACCACTCCACCACCGTGAGAAGCATACACACGGAAGAAAACAAGGAGGATCGAGGGCTGGCGAGGGTGGGGACAGGATCACGGATAGGTGACCATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGG
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Task1_train_23118
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This gene mutation involves FANCA (FA complementation group A) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Fanconi anemia complementation group A
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AGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGACATGGAGGCAGTCACCTGTAATCCTAGCAACTTGGGAGGCTGAGGCGGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAAAGAAACTGCATGTTCTCAATCCACAGATGAACATTTCTTACTCTGGATTTTACAGAAAACCATCACATGGAAGCAGGATCACAGGGCAGAGACCCTGTGTGTCTGATGTGACATCGACTCCGGCAGGCAGGATGAGCGGGAAAACAGGCATCCTAGTCACGCGTTTTCTTCTCTATCATCATTCGTCCTACTCAGATGCAACTAGCCGAATATTCACCTTCTGCCAAGGGTCTGTGACAGCTTCAGTAGGACTAGCCTTCCACCTTGTCTCAAAAAAGGTTCCACACCCGCCAGCCCGGGGTCAATCTTTAAACTACTGGACTACTAGGAAGACACACCAGCCTGATGTCACTATGGGGAAAATGGCCCAGCCACAGAGCTCCAACCACAGGCTGCACACATGAGACACAGCATGAGCTCCCATCCATCCTCACCATCACGCTGGCTGGGGTCTGTCATGGAGGCTCTCAGCTCTCCCAGTGCAGCTGTGAGCTGTCCCAGGGGCTCCTCAGCAGAGTTGGGTTCTGCCCTCACTCCCAGGGCTGCATCTGTGAGAAGAAGGAAGAAACCAGATGGAAAGACACTCAACAGGACTCTTCACTGCAAAAATAGAAACTTCACACAGTCAAATACAGAGCTGTGAACTTCCAAGCTGCTGTGTGTGGCAGACGGAGGGACTGGGAGTCTCTGAGGAGGTAAATGAGGTGTCTTCCCTGATGCTGGATGCCACATCGAAAATTACAATTATAAACGAGTTTCATAAAAAATTACATTTATAAACAAGTTTAAGAAAAAAAGCGGTTCTGTGTGCACCATCAATACCACTCCACCACCGTGAGAAGCATACACACGGAAGAAAACAAGGAGGATCGAGGGCTGGCGAGGGTGGGGACAGGATCACGGATAGGTGACCATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAATCATCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAAGATGGTCTCGATCTCCTGACCTCATGATTTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGGCATGAGCCACTGCGCCCAGCCACCACTTTCAATATAAAAAGGAAGATACGCTGCATATGTTTTTAAAGTAAAAAACCTTCAAGTTCTGGGGTTGCTGGAGAAGACACAAGCATGAAAATGCACTGCTATGCACAGCCACAGCCAAAATGAAACCAGAAATCACAGGCTCTAGAAATCATAGGCTCTAGGAGTCTGTGCATAAGCCTCATCAGACAAATGATTAGAAACCATTCTGGAAGCCACCAAAAGCTACGAACAAGTGGACCCCAGGGGAAGGAGGATCCTGGGGGAAGGAGGACACCTCTCAAGAGAAGCAAACGCCTCACACCGCAGGGTACACAGCCCTGAGGCCCCTGTGGCATCCCCAGCACAACTGAGAGGTCATGCTCTCAGGGTGGGTCGGCCGGGCATGGGGGCTCCCACCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATTGAGACCATTCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAACACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGCGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATCTCAACGAGCCTCCCTGGCCCTGCAGGTGGAAGGGGATCTAGAAGAGCACACAAGGGGCTGGGTACGGTTGCTCATGCCTGTAATCCCAGCACTTTGAAAGGCCGAGGCAGGCGGATCAGTTGAGGTCAGGAGTTCGAGACCAGCTTGTCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAACTAGCAAGGCGTAGTAGTGCGTGCCTATAATCCCAGCTATTACAGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGGGGCAGAGGTTTCAGCGAGCCAAAATCGCGCCACTGCAGTCCACAGCCACAGAGCGAGACTCTGTCTCAAAAAAAAAAAGCCCACAGGGAAGCAGCAGCCTCAGATCTATGTCTTCAGCTCATAGCGGCTCCCACAGGGAGATGCTGGCTTCTACTGGAGATAAAGCCACACACTTCAAGAAAAACCAGCCTCATGATGGCATCTCCCACTGCTGCCTGAGTGCAGCCTTTCACGGATTCCCAATGAGGGCGTAGGTCTGACCGACAGCTGCACCACTGCTCCCCACAGGCCAAAAGAGCCTGACTTCTACTCCTACCTGCACTGTGCAACA
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AGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGACATGGAGGCAGTCACCTGTAATCCTAGCAACTTGGGAGGCTGAGGCGGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAAAGAAACTGCATGTTCTCAATCCACAGATGAACATTTCTTACTCTGGATTTTACAGAAAACCATCACATGGAAGCAGGATCACAGGGCAGAGACCCTGTGTGTCTGATGTGACATCGACTCCGGCAGGCAGGATGAGCGGGAAAACAGGCATCCTAGTCACGCGTTTTCTTCTCTATCATCATTCGTCCTACTCAGATGCAACTAGCCGAATATTCACCTTCTGCCAAGGGTCTGTGACAGCTTCAGTAGGACTAGCCTTCCACCTTGTCTCAAAAAAGGTTCCACACCCGCCAGCCCGGGGTCAATCTTTAAACTACTGGACTACTAGGAAGACACACCAGCCTGATGTCACTATGGGGAAAATGGCCCAGCCACAGAGCTCCAACCACAGGCTGCACACATGAGACACAGCATGAGCTCCCATCCATCCTCACCATCACGCTGGCTGGGGTCTGTCATGGAGGCTCTCGGCTCTCCCAGTGCAGCTGTGAGCTGTCCCAGGGGCTCCTCAGCAGAGTTGGGTTCTGCCCTCACTCCCAGGGCTGCATCTGTGAGAAGAAGGAAGAAACCAGATGGAAAGACACTCAACAGGACTCTTCACTGCAAAAATAGAAACTTCACACAGTCAAATACAGAGCTGTGAACTTCCAAGCTGCTGTGTGTGGCAGACGGAGGGACTGGGAGTCTCTGAGGAGGTAAATGAGGTGTCTTCCCTGATGCTGGATGCCACATCGAAAATTACAATTATAAACGAGTTTCATAAAAAATTACATTTATAAACAAGTTTAAGAAAAAAAGCGGTTCTGTGTGCACCATCAATACCACTCCACCACCGTGAGAAGCATACACACGGAAGAAAACAAGGAGGATCGAGGGCTGGCGAGGGTGGGGACAGGATCACGGATAGGTGACCATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAATCATCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAAGATGGTCTCGATCTCCTGACCTCATGATTTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGGCATGAGCCACTGCGCCCAGCCACCACTTTCAATATAAAAAGGAAGATACGCTGCATATGTTTTTAAAGTAAAAAACCTTCAAGTTCTGGGGTTGCTGGAGAAGACACAAGCATGAAAATGCACTGCTATGCACAGCCACAGCCAAAATGAAACCAGAAATCACAGGCTCTAGAAATCATAGGCTCTAGGAGTCTGTGCATAAGCCTCATCAGACAAATGATTAGAAACCATTCTGGAAGCCACCAAAAGCTACGAACAAGTGGACCCCAGGGGAAGGAGGATCCTGGGGGAAGGAGGACACCTCTCAAGAGAAGCAAACGCCTCACACCGCAGGGTACACAGCCCTGAGGCCCCTGTGGCATCCCCAGCACAACTGAGAGGTCATGCTCTCAGGGTGGGTCGGCCGGGCATGGGGGCTCCCACCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATTGAGACCATTCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAACACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGCGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATCTCAACGAGCCTCCCTGGCCCTGCAGGTGGAAGGGGATCTAGAAGAGCACACAAGGGGCTGGGTACGGTTGCTCATGCCTGTAATCCCAGCACTTTGAAAGGCCGAGGCAGGCGGATCAGTTGAGGTCAGGAGTTCGAGACCAGCTTGTCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAACTAGCAAGGCGTAGTAGTGCGTGCCTATAATCCCAGCTATTACAGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGGGGCAGAGGTTTCAGCGAGCCAAAATCGCGCCACTGCAGTCCACAGCCACAGAGCGAGACTCTGTCTCAAAAAAAAAAAGCCCACAGGGAAGCAGCAGCCTCAGATCTATGTCTTCAGCTCATAGCGGCTCCCACAGGGAGATGCTGGCTTCTACTGGAGATAAAGCCACACACTTCAAGAAAAACCAGCCTCATGATGGCATCTCCCACTGCTGCCTGAGTGCAGCCTTTCACGGATTCCCAATGAGGGCGTAGGTCTGACCGACAGCTGCACCACTGCTCCCCACAGGCCAAAAGAGCCTGACTTCTACTCCTACCTGCACTGTGCAACA
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Task1_train_23119
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This alteration occurs within gene FANCA (FA complementation group A) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Fanconi anemia complementation group A
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CGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGCTACTTGGGAGGCAGAGGGGGAAGGATTGTTGAAACCCAGGAGGTCAAGGCTGGCCAGGTGTGGTGGATCGCGCCTCTAGACCCTGCTACTTGGGAGGCGGAGGGGGAAGGATTGTTGAAGCCCAGGAGATCAAGGCTGGCTGGGTGTGGTGGAGCACGCCTCTAGACCCAGCTACTTGGGAGGCGGAGAGGGAAGGACTGTTGAAGCCCAGGAGGTCAAGGCTGTAGTAAGCCATGACTGCACCGCTGCATTCCAGCCTGGGTGACAGAGTGGGACCCTGTCTCAAAACAAATGAAAGTAAGGATCCCAGAGAATAAACTTATTTTAAGATTTAAAAAATTATTTTTGCAGAGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGATCAGGAGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAGAAAAAAAAAAGGCTCTTTGTGTTTATCTTCTTACAGGTCCCAGAACTTTATAAATTTTGCTGGAATATAGGACTTATACTTTCCTATTTCTTCCAAAGTTGGTTGATACCAACCAACTTTCTTACTAGAAACCTGCAATGTAAGTGATCCAAGGATACCTTATTATTCTAAACAATAACTTCCAGGTCTACTCTCAAGTTCTGCAGCATGAGGCTTTCCCAGAGCTCTTTCATTTTCCTTCAGTTCTCCTCTCTGCACAATCATTATGTACTGAAACATTTTCTTTCACTGAAGAATGATGCAGCCGGGTGCGGTAGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTCCTTGAACCCAGGAGGTGGAGGGTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAGGCCAGGAGCGGTGGCTCACATCTGTAATCCCAGCACTCTGTGAGGATGAGGTGGGTAGATCATCTTCTGAGCTCAGGAGTTTGAGAACCGCCTGGCCAATATGGCAAAACCCTGTCTGTACTAAAAATACAAAAATTAGCAGGGCGTGGTGGTGCATACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATTGCTCCAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCAATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAACTTAGCCAGGCACAGGCTTGTAATCCCAGCTACTCAGGAGGCTGAAGCAAGAGAATCGCTTGAACCTAAGATGTGGAGGTTGCAGTGAGCCAAGATCTCGCCTCTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCCAACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAACCAACCAATTTTGGAGCCAATATTTTACCAATAAAACACAATAGTGGTCTAACAAATTTCTCTACAGAAGATCCACAATTCTTCGCATTGTCAGAAGAAACCTGGAAGTAGTCATCCCCTTCTAACCGTTGCTGCATACCTCTTCAGAGACTCTATAAACGCCACACGGGAGTCAGGGACTTTGGGGAGCTGTGGGAAGAGAAGAGACCTGTGAGAGACTGACAAGGAAAGTCCTTGCTTTCTACACAACTGGTCACAAACTCATGGAGACGCATACTGACCACTCGAGGTGTGAGCAGGGCGGGGAGGAAGTGGGACACGTAGTAAGGCCTCCTGAATATGCTGCAACACAGAGAAGCAGACAGTGCATCAGTCAGAGCAGCGAGAAGGCAATTCCCACAGACGGTGACCGGTGTTTCAGAGAGTGGACTGCGAGGGCTCACTCCAAAGCCACGATGCATTATGAAGTCTTCTTGTGCACAGTTCCGGGACAAGGCATGTGTAGGGCAGGCCGTGCTAGCCCAGCCCTGAGTCCGTGGGAATCAGGACCACATTCGGCCTGCTCCCTGGGCTTGAACGTGGAGCCTGGATCAATCTGAGGCCACGAGGACCATGTAAGGTCCATTTGGGGCAATTTCCTTGGAGCTAAATTTCAAAACCCTGGGAGCTGCAATCAGCTCATCCACATGTGTAACCACCAGAATTCAAGATGTTTTGAGATCATACCAAATTCAATAAAGCTGTGCTATTCAGCTCTCTGTTACTGACTCCATATTGGTCACAAAGAAGGCATTGATAAAAAAAAAAACATCATGGCCCCACTGCCTTCCCTCCCAGTGCAAGCTCCCCAATCAGCAGTTCCTGTTGGCTGCTTCAGCACGGGAGGGGCATCACCTGCTTTTACAGAGGAAAAAATGTTTCACAGCAAATGCACAGCTCTTGACCTCACCCCGTATCCCTTAACGGCAGGATCCTCGATTCACAGCCCTGACTCCTGTCTCTCTCTGAATAGACAGTGGCCAACCTGCCCCATGTGGCTCTGGGCAGAAATGGGACACACTCCAAAGAGCCCCAGACGCTGGCAGGCATCAGAGCGGAGTCTGCACACCCTGCAGGCATCAGAGCAGAGTCTGCACATACTGCAGGCATCAGAGCGCGGTCTGCACACACTGCAGCTGCTAGAGGCCTTTTCGGCAGCCCAGCCTACCTGGCCTCCATGACGGTGACTGGGATGTTCCCCGTATGCTCAAACACCATGATGGCCTTTTCAACATCCTGAAGAGCTTGGCTGTGGGGCTGGTTCCCATACAGGGAGGAAAGGAAAAAGAACAGAGGACTTTAAAGAAAAGACTGAGCAGTGAAGGCCACACTCAACCTGTGCTTCCTTGTTGAAAGGCTCTGTACACATTAAAGGTAAAGGCCCACATGCTGTGCGCACAGCAGGGGCCCTGGAGCACTCCAAAATGTCCCAAAATACCAGCACGACAGGGGAGGATGACACTGCCACCTCCACACACACAAGGTTCAGACCCCGTGATGTGCGGCCCTCCTCGAGAGCTCAGCTCTGCTGAGAGCCTGCCGTGAGCCTCTTTCCTGCCTCCAGGAAAGAGTTGAAAGTAAAGATTTCTAGGTGGGAAGGAGTAGAGACTTAATTTTTGAGATTAAAAGAAATTACGAGGGCTGGGTGCCATGACTCATGTCTATAAACGCAGTGCTTTGAGAGGCTAAGCGGGGCAGACTGCTTAAGCCCAAGGAGTTCAAGCCCGGCCTGGGCAACATGATGACATCTCATCTCTAAAAAAATACAAAAACATTAGCCAGGTGTAGAGGCATGAGCCAGTGGTCCCAGCTACTCAGGACGTGGAGGTGGAAGGATTGCCTGTGCCCAGGAAATCATGGCTCCAGTAAGCCATCATCATGCTACCCTACTGCAGCCTGGGCAACAGGGGAAGTCCCTGCATCAAAAAAAAAAAAAAACATTCTGAGGCCAGGCGCGGCAGCTCACATCTGTAATCCCAGCATTTTGGGGGGCCAAGGCGGAAGGATCACTTGAGCCCAGGAGTTTAAGACCAGTCTCGGCCACACAGGGAGACCCTATGTCTGCAAAAAATTTTAGAAACCAGCCAGGCATGGTGGCGCACACTTGTACTCCCAGTTACTCAGGAGGTCAAGGTGAGAAGATCGTTTCAACCTAGGAGTTTGAGGCTGCACTGAACTGTGA
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CGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGCTACTTGGGAGGCAGAGGGGGAAGGATTGTTGAAACCCAGGAGGTCAAGGCTGGCCAGGTGTGGTGGATCGCGCCTCTAGACCCTGCTACTTGGGAGGCGGAGGGGGAAGGATTGTTGAAGCCCAGGAGATCAAGGCTGGCTGGGTGTGGTGGAGCACGCCTCTAGACCCAGCTACTTGGGAGGCGGAGAGGGAAGGACTGTTGAAGCCCAGGAGGTCAAGGCTGTAGTAAGCCATGACTGCACCGCTGCATTCCAGCCTGGGTGACAGAGTGGGACCCTGTCTCAAAACAAATGAAAGTAAGGATCCCAGAGAATAAACTTATTTTAAGATTTAAAAAATTATTTTTGCAGAGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGATCAGGAGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAGAAAAAAAAAAGGCTCTTTGTGTTTATCTTCTTACAGGTCCCAGAACTTTATAAATTTTGCTGGAATATAGGACTTATACTTTCCTATTTCTTCCAAAGTTGGTTGATACCAACCAACTTTCTTACTAGAAACCTGCAATGTAAGTGATCCAAGGATACCTTATTATTCTAAACAATAACTTCCAGGTCTACTCTCAAGTTCTGCAGCATGAGGCTTTCCCAGAGCTCTTTCATTTTCCTTCAGTTCTCCTCTCTGCACAATCATTATGTACTGAAACATTTTCTTTCACTGAAGAATGATGCAGCCGGGTGCGGTAGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTCCTTGAACCCAGGAGGTGGAGGGTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAGGCCAGGAGCGGTGGCTCACATCTGTAATCCCAGCACTCTGTGAGGATGAGGTGGGTAGATCATCTTCTGAGCTCAGGAGTTTGAGAACCGCCTGGCCAATATGGCAAAACCCTGTCTGTACTAAAAATACAAAAATTAGCAGGGCGTGGTGGTGCATACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATTGCTCCAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCAATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAACTTAGCCAGGCACAGGCTTGTAATCCCAGCTACTCAGGAGGCTGAAGCAAGAGAATCGCTTGAACCTAAGATGTGGAGGTTGCAGTGAGCCAAGATCTCGCCTCTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCCAACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAACCAACCAATTTTGGAGCCAATATTTTACCAATAAAACACAATAGTGGTCTAACAAATTTCTCTACAGAAGATCCACAATTCTTCGCATTGTCAGAAGAAACCTGGAAGTAGTCATCCCCTTCTAACCGTTGCTGCATACCTCTTCAGAGACTCTATAAACGCCACACGGGAGTTAGGGACTTTGGGGAGCTGTGGGAAGAGAAGAGACCTGTGAGAGACTGACAAGGAAAGTCCTTGCTTTCTACACAACTGGTCACAAACTCATGGAGACGCATACTGACCACTCGAGGTGTGAGCAGGGCGGGGAGGAAGTGGGACACGTAGTAAGGCCTCCTGAATATGCTGCAACACAGAGAAGCAGACAGTGCATCAGTCAGAGCAGCGAGAAGGCAATTCCCACAGACGGTGACCGGTGTTTCAGAGAGTGGACTGCGAGGGCTCACTCCAAAGCCACGATGCATTATGAAGTCTTCTTGTGCACAGTTCCGGGACAAGGCATGTGTAGGGCAGGCCGTGCTAGCCCAGCCCTGAGTCCGTGGGAATCAGGACCACATTCGGCCTGCTCCCTGGGCTTGAACGTGGAGCCTGGATCAATCTGAGGCCACGAGGACCATGTAAGGTCCATTTGGGGCAATTTCCTTGGAGCTAAATTTCAAAACCCTGGGAGCTGCAATCAGCTCATCCACATGTGTAACCACCAGAATTCAAGATGTTTTGAGATCATACCAAATTCAATAAAGCTGTGCTATTCAGCTCTCTGTTACTGACTCCATATTGGTCACAAAGAAGGCATTGATAAAAAAAAAAACATCATGGCCCCACTGCCTTCCCTCCCAGTGCAAGCTCCCCAATCAGCAGTTCCTGTTGGCTGCTTCAGCACGGGAGGGGCATCACCTGCTTTTACAGAGGAAAAAATGTTTCACAGCAAATGCACAGCTCTTGACCTCACCCCGTATCCCTTAACGGCAGGATCCTCGATTCACAGCCCTGACTCCTGTCTCTCTCTGAATAGACAGTGGCCAACCTGCCCCATGTGGCTCTGGGCAGAAATGGGACACACTCCAAAGAGCCCCAGACGCTGGCAGGCATCAGAGCGGAGTCTGCACACCCTGCAGGCATCAGAGCAGAGTCTGCACATACTGCAGGCATCAGAGCGCGGTCTGCACACACTGCAGCTGCTAGAGGCCTTTTCGGCAGCCCAGCCTACCTGGCCTCCATGACGGTGACTGGGATGTTCCCCGTATGCTCAAACACCATGATGGCCTTTTCAACATCCTGAAGAGCTTGGCTGTGGGGCTGGTTCCCATACAGGGAGGAAAGGAAAAAGAACAGAGGACTTTAAAGAAAAGACTGAGCAGTGAAGGCCACACTCAACCTGTGCTTCCTTGTTGAAAGGCTCTGTACACATTAAAGGTAAAGGCCCACATGCTGTGCGCACAGCAGGGGCCCTGGAGCACTCCAAAATGTCCCAAAATACCAGCACGACAGGGGAGGATGACACTGCCACCTCCACACACACAAGGTTCAGACCCCGTGATGTGCGGCCCTCCTCGAGAGCTCAGCTCTGCTGAGAGCCTGCCGTGAGCCTCTTTCCTGCCTCCAGGAAAGAGTTGAAAGTAAAGATTTCTAGGTGGGAAGGAGTAGAGACTTAATTTTTGAGATTAAAAGAAATTACGAGGGCTGGGTGCCATGACTCATGTCTATAAACGCAGTGCTTTGAGAGGCTAAGCGGGGCAGACTGCTTAAGCCCAAGGAGTTCAAGCCCGGCCTGGGCAACATGATGACATCTCATCTCTAAAAAAATACAAAAACATTAGCCAGGTGTAGAGGCATGAGCCAGTGGTCCCAGCTACTCAGGACGTGGAGGTGGAAGGATTGCCTGTGCCCAGGAAATCATGGCTCCAGTAAGCCATCATCATGCTACCCTACTGCAGCCTGGGCAACAGGGGAAGTCCCTGCATCAAAAAAAAAAAAAAACATTCTGAGGCCAGGCGCGGCAGCTCACATCTGTAATCCCAGCATTTTGGGGGGCCAAGGCGGAAGGATCACTTGAGCCCAGGAGTTTAAGACCAGTCTCGGCCACACAGGGAGACCCTATGTCTGCAAAAAATTTTAGAAACCAGCCAGGCATGGTGGCGCACACTTGTACTCCCAGTTACTCAGGAGGTCAAGGTGAGAAGATCGTTTCAACCTAGGAGTTTGAGGCTGCACTGAACTGTGA
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Task1_train_23120
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A change on Chromosome 16 affects gene FANCA (FA complementation group A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Fanconi anemia complementation group A
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GGAGCTGAGACTCCTACAAAGAGGCAACTACTTCACCGAGGTGGTGATGGCAGGAAAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTAGGCCTCCCAAACTGCTGAGATTACAGGCATGAGCCACTGTACCTGGCCCGAACCCAAAACTTCTACAAAAATTAGCTCTTCAAATGGAAACTTTACTCACAAGCACTAAAAGAGAAACCATGGCGGTCCTTCAAAGCTGATATCTCAAATACACCCAACTCCCCACATGAACTGGGGGTTTTCACAGGGGTTGCCCAGGGATCCCTGAGGTCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAAT
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GGAGCTGAGACTCCTACAAAGAGGCAACTACTTCACCGAGGTGGTGATGGCAGGAAAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTAGGCCTCCCAAACTGCTGAGATTACAGGCATGAGCCACTGTACCTGGCCCGAACCCAAAACTTCTACAAAAATTAGCTCTTCAAATGGAAACTTTACTCACAAGCACTAAAAGAGAAACCATGGCGGTCCTTCAAAGCTGATATCTCAAATACACCCAACTCCCCACATGAACTGGGGGTTTTCACAGGGGTTGCCCAGGGATCCCTGAGGTCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCACATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAAT
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Task1_train_23121
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A mutation in FANCA (FA complementation group A), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Fanconi anemia complementation group A
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CCCAGGGATCCCTGAGGTCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCT
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CCCAGGGATCCCTGAGGTCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCACGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCT
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Task1_train_23122
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This is a variant in FANCA (FA complementation group A), located on Chromosome 16. Is this mutation a likely cause of disease or not?
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Pathogenic; Fanconi anemia complementation group A
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AGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAA
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AGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGGGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAA
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Task1_train_23123
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This sequence variant lies in FANCA (FA complementation group A) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Fanconi anemia complementation group A
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ATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAAAGTTCACCATCTCCCTGTTTGTTGCCTATTTGCTATATCATCAATTCTGTTTCTCAGGCCCGGTTACTTACTTGTAATGCTTTGTCATATTCACAATAAATATTTTCCAATGTACCAACTGCATTTCAATTTTCCTGCTTTTAAACTGTCAGTAAGGTCAGGCTAGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGTTCTAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTCAAAATACAAAAAGTAGCTGGGCATGGTGGCAGGCGCCTGTAATTCAAGCTTGGCAGGGAATAGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGCAACAGAGTAAGACT
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ATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACCGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAAAGTTCACCATCTCCCTGTTTGTTGCCTATTTGCTATATCATCAATTCTGTTTCTCAGGCCCGGTTACTTACTTGTAATGCTTTGTCATATTCACAATAAATATTTTCCAATGTACCAACTGCATTTCAATTTTCCTGCTTTTAAACTGTCAGTAAGGTCAGGCTAGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGTTCTAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTCAAAATACAAAAAGTAGCTGGGCATGGTGGCAGGCGCCTGTAATTCAAGCTTGGCAGGGAATAGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGCAACAGAGTAAGACT
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Task1_train_23124
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The gene FANCA (FA complementation group A), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Fanconi anemia complementation group A
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CCTGCGGCATTTTTTCAGGCTCCACAGTTCTTCTCAGATCTGAGTTTTTCTGAAATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTCTTGCACTTCTATTTGAAAGGGAACAAGTTTATAGTCAGATTTTTTTCTTTTTTTTTTTTTTTGTGAGACGGAGGCTTGCTCTGTCGCCTGGGCTTGAGTGCAATGGTATGATCTCGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCACCAGTAGCTGGGAATATAGGCGCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGTTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGTCACCCCACCCAGCCCAATTTTTTTCTCTTAAATAAAAGTGGTTTCCAAGGGAGGTCTTATGGATTGTCTTGCCTGCCAATCTCCAATACCAGAGGGTCTAGAGGGACCCAGAAGCATCCTATTCTGAGGAATGTGATGGGGGAGGAAAGGCATTCTTAGCTTTTTAAAAAATAAGACCAAGAGGACTGAAATCCACAAGATTTTCTAACTTTGATTTAAATTTAACCTATCTGGTACCAGGTTATAGTAGCTCAGGAATGCTAAGTCGCTCATGCCACCAAAAAGCTTTAGGAAAAAGGAAAAAACCCACAAGCTACTGTACAGATCAGTTTCTCATCTAATTTTTATTTGTAGGTGTCACTTGTAGTGGGATGGGTCTCCCAGCAGGTGTTCCTCAGAACCCAAATATCCCAGAGAGGATCTGAGAACTCACCAAGGAAAAGAGTCTCATCACTCAAACACAGCAGGCAAAGAGCCAGAAAACGAGCTTCAATGCACCTTAGAGACAGGTGGTGGGGCGGTTCTCTAGAGCTGTCCTGCCGCCGTCCAGGAGTGCGCTGAATATAAGTCCTGACAAACCCAACTACTCCTCAAGCTGGATTGGTCCAAGCCATTCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCGAGCCATCCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCAAGCCATCTTCTGACAAACCCAACTACTCCTCAAACTGGGTTGGTCCCTAGTCTGAGCCATCCTCTGGTCTCTCAGCACCTTCTTAGTTTGTGGGGGGACATTACAGTCCCAAGTTTTTCTCATAATATCATTCCTCAGGAAGGCCAGGCATAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGCATCACGAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACCTAATGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTAGCCGGGCATGGTGCCACGTGCCTGCAGTCCCAGCTACTAAGGAGGTTGAGGCAGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAAGGAAGCAGCTGCGGTCACTCTATGGGAAAGGTGAATGGAAACACTTAAACTCATGTCAAGGCCGACTTACTAGTATTTCCACATCAGTCAAGTAAAATGCAACCCCACAACAGGCTGAGACTGGGAGTCTGTCATGCCAGGTTCCCACGGCCACGGAGAGACAGGCTGTTCTGCCTCGCAGAGCTCTTGAGAGCAGAAGGCATTATCACAGATCAAAATGAGTTTTACCCAAGAACCCGCATCTTGTCATGAACGCACCAGAAAGCATGGCCCTGGCGACGTCAGCATGCTGGCAGGATGCTTCCATCTGTTCACAAAGGCAGCACAGATTCCTGAAGAGCCACGATCCCACAGCATGCATGTCGGGATGGCTGGAGACACACACAGAGGCAGACGTAAGGCTCAACTAAATCCCATCATCAGGGGATTGAGTTGAGCCATATGTCCCAATTTTTTTTTTGAGACAGTTTTTTGCTGTCACTGAGGCTGGAGTGCAGTGGCGCAATCAGTCACTGCACCCTCGACCTCCCAGGCTCAAGCAATCCTTCCACCTCAGCCTCCTGAGTAGTTGGGACAACAGGCGCATACCACCACGCCCAGCTGGAGGTCTTACTACTTTGCCCAGGCTGGACTCAAACTCCCGGGCTCAAAACAATCTCCCACCTTGCCCTCCCAAAGTGCTGGGATGACTGGTGTGGCACTGTGCCCAGTCTCAAGTTATTTTCTAATTTCCCTTGTGACTTCTTTGACTCATTATGTTAACTTTCAAATATTGTGGATTTTCCCAATTCCCTTCTGTTGTTTATTCTAATTAAATTCATTTGTGGTTAGAGAACATATTTTGAATGATTTCAGCCCTTCTAAATTTATTCCTCTTTGTTTTATGGCCTGAACCTTTTTTTTTTCTCTTGAAACAGTTTTGCTCTTGTCATCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTACAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCACAACGGCTGGGATTACAGGCACCTGCCACCTTGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCACGTTGGACAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTGGCCTGAACCTTATGCTGTATCCTGGGGACTGTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGA
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CCTGCGGCATTTTTTCAGGCTCCACAGTTCTTCTCAGATCTGAGTTTTTCTGAAATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTCTTGCACTTCTATTTGAAAGGGAACAAGTTTATAGTCAGATTTTTTTCTTTTTTTTTTTTTTTGTGAGACGGAGGCTTGCTCTGTCGCCTGGGCTTGAGTGCAATGGTATGATCTCGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCACCAGTAGCTGGGAATATAGGCGCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGTTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGTCACCCCACCCAGCCCAATTTTTTTCTCTTAAATAAAAGTGGTTTCCAAGGGAGGTCTTATGGATTGTCTTGCCTGCCAATCTCCAATACCAGAGGGTCTAGAGGGACCCAGAAGCATCCTATTCTGAGGAATGTGATGGGGGAGGAAAGGCATTCTTAGCTTTTTAAAAAATAAGACCAAGAGGACTGAAATCCACAAGATTTTCTAACTTTGATTTAAATTTAACCTATCTGGTACCAGGTTATAGTAGCTCAGGAATGCTAAGTCGCTCATGCCACCAAAAAGCTTTAGGAAAAAGGAAAAAACCCACAAGCTACTGTACAGATCAGTTTCTCATCTAATTTTTATTTGTAGGTGTCACTTGTAGTGGGATGGGTCTCCCAGCAGGTGTTCCTCAGAACCCAAATATCCCAGAGAGGATCTGAGAACTCACCAAGGAAAAGAGTCTCATCACTCAAACACAGCAGGCAAAGAGCCAGAAAACGAGCTTCAATGCACCTTAGAGACAGGTGGTGGGGCGGTTCTCTAGAGCTGTCCTGCCGCCGTCCAGGAGTGCGCTGAATATAAGTCCTGACAAACCCAACTACTCCTCAAGCTGGATTGGTCCAAGCCATTCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCGAGCCATCCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCAAGCCATCTTCTGACAAACCCAACTACTCCTCAAACTGGGTTGGTCCCTAGTCTGAGCCATCCTCTGGTCTCTCAGCACCTTCTTAGTTTGTGGGGGGACATTACAGTCCCAAGTTTTTCTCATAATATCATTCCTCAGGAAGGCCAGGCATAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGCATCACGAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACCTAATGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTAGCCGGGCATGGTGCCACGTGCCTGCAGTCCCAGCTACTAAGGAGGTTGAGGCAGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAAGGAAGCAGCTGCGGTCACTCTATGGGAAAGGTGAATGGAAACACTTAAACTCATGTCAAGGCCGACTTACTAGTATTTCCACATCAGTCAAGTAAAATGCAACCCCACAACAGGCTGAGACTGGGAGTCTGTCATGCCAGGTTCCCACGGCCACGGAGAGACAGGCTGTTCTGCCTCGCAGAGCTCTTGAGAGCAGAAGGCATTATCACAGATCAAAATGAGTTTTACCCAAGAACCCGCATCTTGTCATGAACGCACCAGAAAGCATGGCCCTGGCGACGTCACCATGCTGGCAGGATGCTTCCATCTGTTCACAAAGGCAGCACAGATTCCTGAAGAGCCACGATCCCACAGCATGCATGTCGGGATGGCTGGAGACACACACAGAGGCAGACGTAAGGCTCAACTAAATCCCATCATCAGGGGATTGAGTTGAGCCATATGTCCCAATTTTTTTTTTGAGACAGTTTTTTGCTGTCACTGAGGCTGGAGTGCAGTGGCGCAATCAGTCACTGCACCCTCGACCTCCCAGGCTCAAGCAATCCTTCCACCTCAGCCTCCTGAGTAGTTGGGACAACAGGCGCATACCACCACGCCCAGCTGGAGGTCTTACTACTTTGCCCAGGCTGGACTCAAACTCCCGGGCTCAAAACAATCTCCCACCTTGCCCTCCCAAAGTGCTGGGATGACTGGTGTGGCACTGTGCCCAGTCTCAAGTTATTTTCTAATTTCCCTTGTGACTTCTTTGACTCATTATGTTAACTTTCAAATATTGTGGATTTTCCCAATTCCCTTCTGTTGTTTATTCTAATTAAATTCATTTGTGGTTAGAGAACATATTTTGAATGATTTCAGCCCTTCTAAATTTATTCCTCTTTGTTTTATGGCCTGAACCTTTTTTTTTTCTCTTGAAACAGTTTTGCTCTTGTCATCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTACAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCACAACGGCTGGGATTACAGGCACCTGCCACCTTGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCACGTTGGACAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTGGCCTGAACCTTATGCTGTATCCTGGGGACTGTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGA
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Task1_train_23125
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Given this variant in gene FANCA (FA complementation group A) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Fanconi anemia complementation group A
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ATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTCTTGCACTTCTATTTGAAAGGGAACAAGTTTATAGTCAGATTTTTTTCTTTTTTTTTTTTTTTGTGAGACGGAGGCTTGCTCTGTCGCCTGGGCTTGAGTGCAATGGTATGATCTCGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCACCAGTAGCTGGGAATATAGGCGCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGTTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGTCACCCCACCCAGCCCAATTTTTTTCTCTTAAATAAAAGTGGTTTCCAAGGGAGGTCTTATGGATTGTCTTGCCTGCCAATCTCCAATACCAGAGGGTCTAGAGGGACCCAGAAGCATCCTATTCTGAGGAATGTGATGGGGGAGGAAAGGCATTCTTAGCTTTTTAAAAAATAAGACCAAGAGGACTGAAATCCACAAGATTTTCTAACTTTGATTTAAATTTAACCTATCTGGTACCAGGTTATAGTAGCTCAGGAATGCTAAGTCGCTCATGCCACCAAAAAGCTTTAGGAAAAAGGAAAAAACCCACAAGCTACTGTACAGATCAGTTTCTCATCTAATTTTTATTTGTAGGTGTCACTTGTAGTGGGATGGGTCTCCCAGCAGGTGTTCCTCAGAACCCAAATATCCCAGAGAGGATCTGAGAACTCACCAAGGAAAAGAGTCTCATCACTCAAACACAGCAGGCAAAGAGCCAGAAAACGAGCTTCAATGCACCTTAGAGACAGGTGGTGGGGCGGTTCTCTAGAGCTGTCCTGCCGCCGTCCAGGAGTGCGCTGAATATAAGTCCTGACAAACCCAACTACTCCTCAAGCTGGATTGGTCCAAGCCATTCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCGAGCCATCCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCAAGCCATCTTCTGACAAACCCAACTACTCCTCAAACTGGGTTGGTCCCTAGTCTGAGCCATCCTCTGGTCTCTCAGCACCTTCTTAGTTTGTGGGGGGACATTACAGTCCCAAGTTTTTCTCATAATATCATTCCTCAGGAAGGCCAGGCATAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGCATCACGAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACCTAATGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTAGCCGGGCATGGTGCCACGTGCCTGCAGTCCCAGCTACTAAGGAGGTTGAGGCAGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAAGGAAGCAGCTGCGGTCACTCTATGGGAAAGGTGAATGGAAACACTTAAACTCATGTCAAGGCCGACTTACTAGTATTTCCACATCAGTCAAGTAAAATGCAACCCCACAACAGGCTGAGACTGGGAGTCTGTCATGCCAGGTTCCCACGGCCACGGAGAGACAGGCTGTTCTGCCTCGCAGAGCTCTTGAGAGCAGAAGGCATTATCACAGATCAAAATGAGTTTTACCCAAGAACCCGCATCTTGTCATGAACGCACCAGAAAGCATGGCCCTGGCGACGTCAGCATGCTGGCAGGATGCTTCCATCTGTTCACAAAGGCAGCACAGATTCCTGAAGAGCCACGATCCCACAGCATGCATGTCGGGATGGCTGGAGACACACACAGAGGCAGACGTAAGGCTCAACTAAATCCCATCATCAGGGGATTGAGTTGAGCCATATGTCCCAATTTTTTTTTTGAGACAGTTTTTTGCTGTCACTGAGGCTGGAGTGCAGTGGCGCAATCAGTCACTGCACCCTCGACCTCCCAGGCTCAAGCAATCCTTCCACCTCAGCCTCCTGAGTAGTTGGGACAACAGGCGCATACCACCACGCCCAGCTGGAGGTCTTACTACTTTGCCCAGGCTGGACTCAAACTCCCGGGCTCAAAACAATCTCCCACCTTGCCCTCCCAAAGTGCTGGGATGACTGGTGTGGCACTGTGCCCAGTCTCAAGTTATTTTCTAATTTCCCTTGTGACTTCTTTGACTCATTATGTTAACTTTCAAATATTGTGGATTTTCCCAATTCCCTTCTGTTGTTTATTCTAATTAAATTCATTTGTGGTTAGAGAACATATTTTGAATGATTTCAGCCCTTCTAAATTTATTCCTCTTTGTTTTATGGCCTGAACCTTTTTTTTTTCTCTTGAAACAGTTTTGCTCTTGTCATCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTACAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCACAACGGCTGGGATTACAGGCACCTGCCACCTTGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCACGTTGGACAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTGGCCTGAACCTTATGCTGTATCCTGGGGACTGTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGAGGCAGGGGCAGAATTGCTTGAATCCGGGAAGCGGAGGTTGCAGCGAGCCCAGAT
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ATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTCTTGCACTTCTATTTGAAAGGGAACAAGTTTATAGTCAGATTTTTTTCTTTTTTTTTTTTTTTGTGAGACGGAGGCTTGCTCTGTCGCCTGGGCTTGAGTGCAATGGTATGATCTCGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCACCAGTAGCTGGGAATATAGGCGCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGTTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGTCACCCCACCCAGCCCAATTTTTTTCTCTTAAATAAAAGTGGTTTCCAAGGGAGGTCTTATGGATTGTCTTGCCTGCCAATCTCCAATACCAGAGGGTCTAGAGGGACCCAGAAGCATCCTATTCTGAGGAATGTGATGGGGGAGGAAAGGCATTCTTAGCTTTTTAAAAAATAAGACCAAGAGGACTGAAATCCACAAGATTTTCTAACTTTGATTTAAATTTAACCTATCTGGTACCAGGTTATAGTAGCTCAGGAATGCTAAGTCGCTCATGCCACCAAAAAGCTTTAGGAAAAAGGAAAAAACCCACAAGCTACTGTACAGATCAGTTTCTCATCTAATTTTTATTTGTAGGTGTCACTTGTAGTGGGATGGGTCTCCCAGCAGGTGTTCCTCAGAACCCAAATATCCCAGAGAGGATCTGAGAACTCACCAAGGAAAAGAGTCTCATCACTCAAACACAGCAGGCAAAGAGCCAGAAAACGAGCTTCAATGCACCTTAGAGACAGGTGGTGGGGCGGTTCTCTAGAGCTGTCCTGCCGCCGTCCAGGAGTGCGCTGAATATAAGTCCTGACAAACCCAACTACTCCTCAAGCTGGATTGGTCCAAGCCATTCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCGAGCCATCCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCAAGCCATCTTCTGACAAACCCAACTACTCCTCAAACTGGGTTGGTCCCTAGTCTGAGCCATCCTCTGGTCTCTCAGCACCTTCTTAGTTTGTGGGGGGACATTACAGTCCCAAGTTTTTCTCATAATATCATTCCTCAGGAAGGCCAGGCATAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGCATCACGAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACCTAATGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTAGCCGGGCATGGTGCCACGTGCCTGCAGTCCCAGCTACTAAGGAGGTTGAGGCAGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAAGGAAGCAGCTGCGGTCACTCTATGGGAAAGGTGAATGGAAACACTTAAACTCATGTCAAGGCCGACTTACTAGTATTTCCACATCAGTCAAGTAAAATGCAACCCCACAACAGGCTGAGACTGGGAGTCTGTCATGCCAGGTTCCCACGGCCACGGAGAGACAGGCTGTTCTGCCTCGCAGAGCTCTTGAGAGCAGAAGGCATTATCACAGATCAAAATGAGTTTTACCCAAGAACCCGCATCTTGTCATGAACGCACCAGAAAGCATGGCCCTGGCGACGTCAGCATGCTGGCAGGATGCTTCCATCTGTTCACAAAGGCAGCACAGATTCCTGAAGCGCCACGATCCCACAGCATGCATGTCGGGATGGCTGGAGACACACACAGAGGCAGACGTAAGGCTCAACTAAATCCCATCATCAGGGGATTGAGTTGAGCCATATGTCCCAATTTTTTTTTTGAGACAGTTTTTTGCTGTCACTGAGGCTGGAGTGCAGTGGCGCAATCAGTCACTGCACCCTCGACCTCCCAGGCTCAAGCAATCCTTCCACCTCAGCCTCCTGAGTAGTTGGGACAACAGGCGCATACCACCACGCCCAGCTGGAGGTCTTACTACTTTGCCCAGGCTGGACTCAAACTCCCGGGCTCAAAACAATCTCCCACCTTGCCCTCCCAAAGTGCTGGGATGACTGGTGTGGCACTGTGCCCAGTCTCAAGTTATTTTCTAATTTCCCTTGTGACTTCTTTGACTCATTATGTTAACTTTCAAATATTGTGGATTTTCCCAATTCCCTTCTGTTGTTTATTCTAATTAAATTCATTTGTGGTTAGAGAACATATTTTGAATGATTTCAGCCCTTCTAAATTTATTCCTCTTTGTTTTATGGCCTGAACCTTTTTTTTTTCTCTTGAAACAGTTTTGCTCTTGTCATCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTACAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCACAACGGCTGGGATTACAGGCACCTGCCACCTTGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCACGTTGGACAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTGGCCTGAACCTTATGCTGTATCCTGGGGACTGTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGAGGCAGGGGCAGAATTGCTTGAATCCGGGAAGCGGAGGTTGCAGCGAGCCCAGAT
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Task1_train_23126
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This alteration in FANCA (FA complementation group A) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Fanconi anemia complementation group A
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GTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGAGGCAGGGGCAGAATTGCTTGAATCCGGGAAGCGGAGGTTGCAGCGAGCCCAGATCTCACCACTGCACTCCAGCCTGGCGACATAGCAGGTCTCTGTCTCAAAAAGAAAAAAAAAGGCCGCGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGGGAATCACCTGAGGTTAGGAGTTTGACACCAGCCTGGCTAACATGGCGAAACCACATCTCTACTAAAAATAACAAAAATTGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCGCTTTGGGAGGCAGAGGCGGGCAGATCCTGAAGTCAGGAGATGGAGCCCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCCTGCAGTGAGCCGACATCACGTCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCTGTCCCTAAAAAAAATAAATACATAACAAAAATTAGCTGCGTGTGGTGGCGGGCGCCTGTAATCCCAGCGACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGTGGAGGTTGTAGTGAGCTGAAATCGTGCCACTGCACTCCCACCTGGGCCACAGAGCGAGACTCCGTCTCAAAAAAAAAACAGACAAAAAGCAAACAAAACCAAAACACCATAAACGTTCTCTTGAAATAATAAAGCAATAGTTCCTCCAGGTCTAGTCTAGTATAAATATGCAATGCAATCTAGTCTAGTACAAATTATATGTCAAAGCCAGAAATCAAACCCGTCTGATTCTGGGCTTTGAAATATAATTTATACTAGACTAGACTGCAAAAACAGTAACACTGAATCATCATTAGCACGCTACCTTTCCAGCAGCTCTTGCAGGCTCACAATGCCTTGTACGTGAAGATGCCACACCGCTTCAAGCAACAAAGAACTCTGAAAAACAAAACAAAACAAACAAAAACAAAAACAAAAAAACCCCCAGCATTCTGAGTCCTTTATGAATGCATTTTCCTACAAAATGTTCAACTTAGGTTCTTAACCATGCCGTATTGAAAATTAACCTCAAGCAAAAACTTAGAGCCTGAAACACATCTTTTTTTACAAAGCTGTACTGGTTTTCAAACTCCCTGGCCTTTGGGCACCCACACACCGTTGCCCAACACTTGCTTCTCTTCCTTCTCTCTTCCTACGCACTGTAGCCTACTTCTAACCCTTTCTCCACACTACAGCCAACACAGTATTACACACACTGACATGACAGTCTCTCCTTCAGAAGCCTTCACTGGCTCCTCGAAGCTGCCAGGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCACAGTCCGTGCAGGAAGGCTTTCCTAACTCTCCAATCTGATATGCATGTCCAACATCTTCTTCGCAAATCTGTGAGCACATGAATCATCGCACTTCTTGTGGATTTAGTGGCTTGTTTCCCAAGCTACGTGATAATGAGGGCAGGGACCAAAGCAATAACTGAAAAATCTAATGAATTCTATAATGTATGCTGGATAAAAGAATGGGAAAGGCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAATTGAAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAGATACAAAAATTGGGCAGGGCGCGGTGACTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGACGTTGCGATAAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGATACAAAAATTAACTGGGCATGGTGGCACGCGCCTGTAATCCCAGCTACTAAGGTGGCTGAGGCAGGACAATCGCTTGAACCTGGGAGGCAGACGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGCAGAGCAATATTCTGTCTCAAAAATAAAAATAAATGCCAGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTGCTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGTCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGGGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGTGCGACAGAGCGAGACTTCGTCTCAAAAAAAAAAAAAAAAGAC
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GTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGAGGCAGGGGCAGAATTGCTTGAATCCGGGAAGCGGAGGTTGCAGCGAGCCCAGATCTCACCACTGCACTCCAGCCTGGCGACATAGCAGGTCTCTGTCTCAAAAAGAAAAAAAAAGGCCGCGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGGGAATCACCTGAGGTTAGGAGTTTGACACCAGCCTGGCTAACATGGCGAAACCACATCTCTACTAAAAATAACAAAAATTGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCGCTTTGGGAGGCAGAGGCGGGCAGATCCTGAAGTCAGGAGATGGAGCCCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCCTGCAGTGAGCCGACATCACGTCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCTGTCCCTAAAAAAAATAAATACATAACAAAAATTAGCTGCGTGTGGTGGCGGGCGCCTGTAATCCCAGCGACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGTGGAGGTTGTAGTGAGCTGAAATCGTGCCACTGCACTCCCACCTGGGCCACAGAGCGAGACTCCGTCTCAAAAAAAAAACAGACAAAAAGCAAACAAAACCAAAACACCATAAACGTTCTCTTGAAATAATAAAGCAATAGTTCCTCCAGGTCTAGTCTAGTATAAATATGCAATGCAATCTAGTCTAGTACAAATTATATGTCAAAGCCAGAAATCAAACCCGTCTGATTCTGGGCTTTGAAATATAATTTATACTAGACTAGACTGCAAAAACAGTAACACTGAATCATCATTAGCACGCTACGTTTCCAGCAGCTCTTGCAGGCTCACAATGCCTTGTACGTGAAGATGCCACACCGCTTCAAGCAACAAAGAACTCTGAAAAACAAAACAAAACAAACAAAAACAAAAACAAAAAAACCCCCAGCATTCTGAGTCCTTTATGAATGCATTTTCCTACAAAATGTTCAACTTAGGTTCTTAACCATGCCGTATTGAAAATTAACCTCAAGCAAAAACTTAGAGCCTGAAACACATCTTTTTTTACAAAGCTGTACTGGTTTTCAAACTCCCTGGCCTTTGGGCACCCACACACCGTTGCCCAACACTTGCTTCTCTTCCTTCTCTCTTCCTACGCACTGTAGCCTACTTCTAACCCTTTCTCCACACTACAGCCAACACAGTATTACACACACTGACATGACAGTCTCTCCTTCAGAAGCCTTCACTGGCTCCTCGAAGCTGCCAGGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCACAGTCCGTGCAGGAAGGCTTTCCTAACTCTCCAATCTGATATGCATGTCCAACATCTTCTTCGCAAATCTGTGAGCACATGAATCATCGCACTTCTTGTGGATTTAGTGGCTTGTTTCCCAAGCTACGTGATAATGAGGGCAGGGACCAAAGCAATAACTGAAAAATCTAATGAATTCTATAATGTATGCTGGATAAAAGAATGGGAAAGGCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAATTGAAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAGATACAAAAATTGGGCAGGGCGCGGTGACTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGACGTTGCGATAAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGATACAAAAATTAACTGGGCATGGTGGCACGCGCCTGTAATCCCAGCTACTAAGGTGGCTGAGGCAGGACAATCGCTTGAACCTGGGAGGCAGACGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGCAGAGCAATATTCTGTCTCAAAAATAAAAATAAATGCCAGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTGCTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGTCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGGGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGTGCGACAGAGCGAGACTTCGTCTCAAAAAAAAAAAAAAAAGAC
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Task1_train_23127
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Consider a variant on Chromosome 16 in gene FANCA (FA complementation group A). Determine its clinical classification and disease relevance.
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Pathogenic; Fanconi anemia
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CCTTCACTGGCTCCTCGAAGCTGCCAGGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCACAGTCCGTGCAGGAAGGCTTTCCTAACTCTCCAATCTGATATGCATGTCCAACATCTTCTTCGCAAATCTGTGAGCACATGAATCATCGCACTTCTTGTGGATTTAGTGGCTTGTTTCCCAAGCTACGTGATAATGAGGGCAGGGACCAAAGCAATAACTGAAAAATCTAATGAATTCTATAATGTATGCTGGATAAAAGAATGGGAAAGGCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAATTGAAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAGATACAAAAATTGGGCAGGGCGCGGTGACTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGACGTTGCGATAAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGATACAAAAATTAACTGGGCATGGTGGCACGCGCCTGTAATCCCAGCTACTAAGGTGGCTGAGGCAGGACAATCGCTTGAACCTGGGAGGCAGACGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGCAGAGCAATATTCTGTCTCAAAAATAAAAATAAATGCCAGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTGCTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGTCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGGGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGTGCGACAGAGCGAGACTTCGTCTCAAAAAAAAAAAAAAAAGACCAGCCTGGGCAACAAGGCGAGACCCTGTCTCTGGAAAAAAAAATTACATACATTTTTTTTTAATAGTTTACTATACTACCCTGGAAAATTCTCCATACTAATATACCCAAGGCTAAACGTGTTTTTCAATATATTCTAGTCTAATAAATATTACTAATGATAGGTGAATAGGGACAAAAAATGGCAATTGAAGGTACTTCTTTCCAATCCACAGATGATTTCTAAACCCTTTTTCATCCACTCTCTGTAATTAATGAGAAGCTTGGAGAATTCCCAAGAAAACCCAGGTACTCTGTTGCCTCCATCCAGATCAACAGAACATTGCCTGGAACACTGGAGAGTCAGATTTGCAATCTCAAATTTACCTGTATTTTCCATAATTCTTGACAGAAGGAAAGACGGGAGAACATACTGTGTGCCAATAAATACTGAGCAAACTCTAACAGGGAAGACAGCTTCTTCTGAAAAGAGAGATTACATTTTTTAAAAAACAAATTACCTGAAACAATACTAAAGCTATGTCCTATTTTCCCAACCAGCTTAAAAGTAACAACGGGCAGGTTTCCTCATCTTTGCTGGTGTCTTACTCTCTGCTCCACAGTCAGCAGCACAGGGTGACTGGTCTCCGCTGGAGCCGTGCAGATCTGTCCCACGCTAGAGGCAACCATCCCGGCTGAGAGAATACCCACGGGAACCCCCAGCCTTGAGGCTTGATCCTGCAAAGCAGAGCCTTAAACACAAAACAAAACCATAGCTTTCTCTTAACACATGAGACAAAATCTAAAACCAAAGACTTGCTGTTTAAAATGCCTTATTTTAAGATGCAGCACAAAAAAAATTGCCTTTTAAACGGGGAGAATAGATGCAAAGGGAAAAACATGAGATAAAAATGAGAATTTGATGATCCAAGCAGCTCACAATAAAACTGGTGGCAACACCTGAACCCAGAGTTATACATTGGTATTTGTTACGTTTCCCATGACACAAAAGGAGCAAGATAAAGAAATATATTCTGACCAAGAACTTTATCATCTTTTTACAAAGGAGCACAATAAATTGAGAACTGCAGCAGGCTCTTTCAATTACATTGTTTTTCTAATTACTTCAGAGATAAGCCTGCCCCTGTTGACTCACATTGATGGTTGTGATAAAATTAGGCAGGGATTTCCCAACATTCTGCCATGCACCTGGTGGGCAGGTGCAGTCACAGCTGTGCTCAGTCCGCAGGCCACCAAGTGGAACCTCACTAACAGCCTGCAGGCAGCCACCATTCTCCTGAGCAACCAGCCACTGGTCTGCATTCAATAAAGTGAGAAACGGTGGGCAACCTGGAAGCAGGCAATGCCAAGAAATCATTTTCTAATTTATTTGTCTTCCAAAATTAATTTTTTTTTGTTTTATTTTTTTGCAATGGTGTCTTACACTGCCGCCTGGACTGAAGTGCAACGGCGCCATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACTACGCCCAGTTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCTAGGCTCGTCTCCAATTCCCAACCTCATTAATCCGCCCGCCTCGGCCTCCCATACTGCTGGGATTACAGGTGTGAGCCACCACGTGAGCCAAAATTAATTGTTTAAAGAAACCGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAGACACAAAAACAAAATTAGCCAGGTTTGGTGACGGGAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGAAGAATGGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCGAGATCACGCCACTACACTGCAGTCTGGGCGACAGAGCCAGACTTCATCTCAAAAAAACAAAACAAAAAAAAACTGGAGGCCAGGCTCAGTGGGTCCCTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCG
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CCTTCACTGGCTCCTCGAAGCTGCCAGGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCACAGTCCGTGCAGGAAGGCTTTCCTAACTCTCCAATCTGATATGCATGTCCAACATCTTCTTCGCAAATCTGTGAGCACATGAATCATCGCACTTCTTGTGGATTTAGTGGCTTGTTTCCCAAGCTACGTGATAATGAGGGCAGGGACCAAAGCAATAACTGAAAAATCTAATGAATTCTATAATGTATGCTGGATAAAAGAATGGGAAAGGCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAATTGAAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAGATACAAAAATTGGGCAGGGCGCGGTGACTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGACGTTGCGATAAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGATACAAAAATTAACTGGGCATGGTGGCACGCGCCTGTAATCCCAGCTACTAAGGTGGCTGAGGCAGGACAATCGCTTGAACCTGGGAGGCAGACGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGCAGAGCAATATTCTGTCTCAAAAATAAAAATAAATGCCAGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTGCTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGTCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGGGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGTGCGACAGAGCGAGACTTCGTCTCAAAAAAAAAAAAAAAAGACCAGCCTGGGCAACAAGGCGAGACCCTGTCTCTGGAAAAAAAAATTACATACATTTTTTTTTAATAGTTTACTATACTACCCTGGAAAATTCTCCATACTAATATACCCAAGGCTAAACGTGTTTTTCAATATATTCTAGTCTAATAAATATTACTAATGATAGGTGAATAGGGACAAAAAATGGCAATTGAAGGTACTTCTTTCCAATCCACAGATGATTTCTAAACCCTTTTTCATCCACTCTCTGTAATTAATGAGAAGCTTGGAGAATTCCCAAGAAAACCCAGGTACTCTGTTGCCTCCATCCAGATCAACAGAACATTGCCTGGAACACTGGAGAGTCAGATTTGCAATCTCAAATTTACCTGTATTTTCCATAATTCTTGACAGAAGGAAAGACGGGAGAACATACTGTGTACCAATAAATACTGAGCAAACTCTAACAGGGAAGACAGCTTCTTCTGAAAAGAGAGATTACATTTTTTAAAAAACAAATTACCTGAAACAATACTAAAGCTATGTCCTATTTTCCCAACCAGCTTAAAAGTAACAACGGGCAGGTTTCCTCATCTTTGCTGGTGTCTTACTCTCTGCTCCACAGTCAGCAGCACAGGGTGACTGGTCTCCGCTGGAGCCGTGCAGATCTGTCCCACGCTAGAGGCAACCATCCCGGCTGAGAGAATACCCACGGGAACCCCCAGCCTTGAGGCTTGATCCTGCAAAGCAGAGCCTTAAACACAAAACAAAACCATAGCTTTCTCTTAACACATGAGACAAAATCTAAAACCAAAGACTTGCTGTTTAAAATGCCTTATTTTAAGATGCAGCACAAAAAAAATTGCCTTTTAAACGGGGAGAATAGATGCAAAGGGAAAAACATGAGATAAAAATGAGAATTTGATGATCCAAGCAGCTCACAATAAAACTGGTGGCAACACCTGAACCCAGAGTTATACATTGGTATTTGTTACGTTTCCCATGACACAAAAGGAGCAAGATAAAGAAATATATTCTGACCAAGAACTTTATCATCTTTTTACAAAGGAGCACAATAAATTGAGAACTGCAGCAGGCTCTTTCAATTACATTGTTTTTCTAATTACTTCAGAGATAAGCCTGCCCCTGTTGACTCACATTGATGGTTGTGATAAAATTAGGCAGGGATTTCCCAACATTCTGCCATGCACCTGGTGGGCAGGTGCAGTCACAGCTGTGCTCAGTCCGCAGGCCACCAAGTGGAACCTCACTAACAGCCTGCAGGCAGCCACCATTCTCCTGAGCAACCAGCCACTGGTCTGCATTCAATAAAGTGAGAAACGGTGGGCAACCTGGAAGCAGGCAATGCCAAGAAATCATTTTCTAATTTATTTGTCTTCCAAAATTAATTTTTTTTTGTTTTATTTTTTTGCAATGGTGTCTTACACTGCCGCCTGGACTGAAGTGCAACGGCGCCATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACTACGCCCAGTTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCTAGGCTCGTCTCCAATTCCCAACCTCATTAATCCGCCCGCCTCGGCCTCCCATACTGCTGGGATTACAGGTGTGAGCCACCACGTGAGCCAAAATTAATTGTTTAAAGAAACCGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAGACACAAAAACAAAATTAGCCAGGTTTGGTGACGGGAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGAAGAATGGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCGAGATCACGCCACTACACTGCAGTCTGGGCGACAGAGCCAGACTTCATCTCAAAAAAACAAAACAAAAAAAAACTGGAGGCCAGGCTCAGTGGGTCCCTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCG
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Task1_train_23128
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A mutation on Chromosome 16 affecting FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Fanconi anemia
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GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
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GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACCTGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
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Task1_train_23129
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This variant lies on Chromosome 16 and affects the gene FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Fanconi anemia complementation group A
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GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
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GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACGTGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
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Task1_train_23130
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A variant was discovered in gene FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Fanconi anemia
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GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
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GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACGTGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
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Task1_train_23131
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The gene FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Fanconi anemia complementation group A
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TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
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TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACACGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
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Task1_train_23132
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Given a variant located on Chromosome 16 and affecting FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Fanconi anemia
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TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
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TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACACGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
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Task1_train_23133
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This gene mutation involves FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Fanconi anemia
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TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
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TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACAGGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
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Task1_train_23134
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This variant impacts the gene FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Fanconi anemia complementation group A
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TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
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TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACAGGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
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Task1_train_23135
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This alteration occurs within gene TUBB3 (tubulin beta 3 class III) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; TUBB3-related tubulinopathy
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CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTCTAGGCTCCGCTCGGCAGCTGTCATGGGAGCAGAGTCCGAGAAGCACTGCAGGCACCTGCTCTAGGGGGAGAGAGGTGGAGGTGGCAGGTAGAGAGAGGACGACCCCTGGGAGCTGAGACGATGCCAGCCTCACACGGACAGGCTGGGTGACCTCAGGCAAGTCGCTTCCCATTTGGGACCCCAAGGACCCTTCTGCAGACCCAGCTGGGGGTCCCCGATGAGACTGGCTCTCAGAGTCCCTGTGAGTCCCGTCAGCTGAGGCCAGTAATGTCCTGGCACCATCACTGGACATGGTTTGCTCTCCCATGGAGGGGCAGGTGTAGCAGCCAAAAGCGATCCTGAGCTCTGGGCCTCTGAACCCTGCTCTGCCAGCTACTGTGGGTGTCTCTACCCGCTCTGTGTCTCAGTTCCCTTTCCTGAAAAGAGGGGATAGTAAAAACTAACCCTCAAGGTGTTTATTACCAATGCCCTTCATGGAGGAATCCGCTGCTCCAGGCCCTTGCCAGCAGCTGCACAGCTGGGCCTGGGGACCTGGGTGTGGGTCTGTTGAACCTTGGCCCACCCTGGGGCTGTGGTCGGCCTGGACGTGTAGGTGTGGAGGTGCATATTTATTATGGCAATTTTCTGACAGGTAACAGAGTGTGGGGCTCTCTTCTGAATGGGGCTCGTGGAGGCCGTGGGTCAAAAGCCCTAATTTTGTAGTGAGGGCTAAAAGGCTTCACAAGGGAAAGGGCCTGGCTGGGGCTATGGGCCGGTGCCGACCCCCCCTCTCCCACTTTGTTTGCAGTTCTGGGAAGTCATCAGTGATGAGCATGGCATCGACCCCAGCGGCAACTACGTGGGCGACTCGGACTTGCAGCTGGAGCGGATCAGCGTCTACTACAACGAGGCCTCTTGTGAGTGCCTGCCCCAGCCTCCCTATCCCAGCCCTGGACTGACCAGGTCTCAGCGTCTGACTGACCAGGTCTCAGCACCTGGACTCACCAGCTCTCAGCATCTCTGTCCTCCCATGGGTTAGGTTGGCTGAGATGCCAGCAGGCGTAACTGGATGTCAGGCATCCAGACGCACAGAACAGACAATAAATCACAGTCACAAAAGTGAGAGCCAAACATATTAGTGCCATGAGGGCCTGTGCGTGTCCAGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGA
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CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTCTAGGCTCCGCTCGGCAGCTGTCATGGGAGCAGAGTCCGAGAAGCACTGCAGGCACCTGCTCTAGGGGGAGAGAGGTGGAGGTGGCAGGTAGAGAGAGGACGACCCCTGGGAGCTGAGACGATGCCAGCCTCACACGGACAGGCTGGGTGACCTCAGGCAAGTCGCTTCCCATTTGGGACCCCAAGGACCCTTCTGCAGACCCAGCTGGGGGTCCCCGATGAGACTGGCTCTCAGAGTCCCTGTGAGTCCCGTCAGCTGAGGCCAGTAATGTCCTGGCACCATCACTGGACATGGTTTGCTCTCCCATGGAGGGGCAGGTGTAGCAGCCAAAAGCGATCCTGAGCTCTGGGCCTCTGAACCCTGCTCTGCCAGCTACTGTGGGTGTCTCTACCCGCTCTGTGTCTCAGTTCCCTTTCCTGAAAAGAGGGGATAGTAAAAACTAACCCTCAAGGTGTTTATTACCAATGCCCTTCATGGAGGAATCCGCTGCTCCAGGCCCTTGCCAGCAGCTGCACAGCTGGGCCTGGGGACCTGGGTGTGGGTCTGTTGAACCTTGGCCCACCCTGGGGCTGTGGTCGGCCTGGACGTGTAGGTGTGGAGGTGCATATTTATTATGGCAATTTTCTGACAGGTAACAGAGTGTGGGGCTCTCTTCTGAATGGGGCTCGTGGAGGCCGTGGGTCAAAAGCCCTAATTTTGTAGTGAGGGCTAAAAGGCTTCACAAGGGAAAGGGCCTGGCTGGGGCTATGGGCCGGTGCCGACCCCCCCTCTCCCACTTTGTTTGCAGTTCTGGGAAGTCATCAGTGATGAGCATGGCATCGACCCCAGCGGCAACTACGTGGGCGACTCGGACTTGCAGCTGGAGCGGATCAGCGTCTACTACAACGAGGCCTCTTGTGAGTGCCTGCCCCAGCCTCCCTATCCCAGCCCTGGACTGACCAGGTCTCAGCGTCTGACTGACCAGGTCTCAGCACCTGGACTCACCAGCTCTCAGCATCTCTGTCCTCCCATGGGTTAGGTTGGCTGAGATGCCAGCAGGCGTAACTGGATGTCAGGCATCCAGACGCACAGAACAGACAATAAATCACAGTCACAAAAGTGAGAGCCAAACATATTAGTGCCATGAGGGCCTGTGCGTGTCCAGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCAGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGA
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Task1_train_23136
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This sequence variant lies in TUBB3 (tubulin beta 3 class III) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; TUBB3-related disorder
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CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTCTAGGCTCCGCTCGGCAGCTGTCATGGGAGCAGAGTCCGAGAAGCACTGCAGGCACCTGCTCTAGGGGGAGAGAGGTGGAGGTGGCAGGTAGAGAGAGGACGACCCCTGGGAGCTGAGACGATGCCAGCCTCACACGGACAGGCTGGGTGACCTCAGGCAAGTCGCTTCCCATTTGGGACCCCAAGGACCCTTCTGCAGACCCAGCTGGGGGTCCCCGATGAGACTGGCTCTCAGAGTCCCTGTGAGTCCCGTCAGCTGAGGCCAGTAATGTCCTGGCACCATCACTGGACATGGTTTGCTCTCCCATGGAGGGGCAGGTGTAGCAGCCAAAAGCGATCCTGAGCTCTGGGCCTCTGAACCCTGCTCTGCCAGCTACTGTGGGTGTCTCTACCCGCTCTGTGTCTCAGTTCCCTTTCCTGAAAAGAGGGGATAGTAAAAACTAACCCTCAAGGTGTTTATTACCAATGCCCTTCATGGAGGAATCCGCTGCTCCAGGCCCTTGCCAGCAGCTGCACAGCTGGGCCTGGGGACCTGGGTGTGGGTCTGTTGAACCTTGGCCCACCCTGGGGCTGTGGTCGGCCTGGACGTGTAGGTGTGGAGGTGCATATTTATTATGGCAATTTTCTGACAGGTAACAGAGTGTGGGGCTCTCTTCTGAATGGGGCTCGTGGAGGCCGTGGGTCAAAAGCCCTAATTTTGTAGTGAGGGCTAAAAGGCTTCACAAGGGAAAGGGCCTGGCTGGGGCTATGGGCCGGTGCCGACCCCCCCTCTCCCACTTTGTTTGCAGTTCTGGGAAGTCATCAGTGATGAGCATGGCATCGACCCCAGCGGCAACTACGTGGGCGACTCGGACTTGCAGCTGGAGCGGATCAGCGTCTACTACAACGAGGCCTCTTGTGAGTGCCTGCCCCAGCCTCCCTATCCCAGCCCTGGACTGACCAGGTCTCAGCGTCTGACTGACCAGGTCTCAGCACCTGGACTCACCAGCTCTCAGCATCTCTGTCCTCCCATGGGTTAGGTTGGCTGAGATGCCAGCAGGCGTAACTGGATGTCAGGCATCCAGACGCACAGAACAGACAATAAATCACAGTCACAAAAGTGAGAGCCAAACATATTAGTGCCATGAGGGCCTGTGCGTGTCCAGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGA
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CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTCTAGGCTCCGCTCGGCAGCTGTCATGGGAGCAGAGTCCGAGAAGCACTGCAGGCACCTGCTCTAGGGGGAGAGAGGTGGAGGTGGCAGGTAGAGAGAGGACGACCCCTGGGAGCTGAGACGATGCCAGCCTCACACGGACAGGCTGGGTGACCTCAGGCAAGTCGCTTCCCATTTGGGACCCCAAGGACCCTTCTGCAGACCCAGCTGGGGGTCCCCGATGAGACTGGCTCTCAGAGTCCCTGTGAGTCCCGTCAGCTGAGGCCAGTAATGTCCTGGCACCATCACTGGACATGGTTTGCTCTCCCATGGAGGGGCAGGTGTAGCAGCCAAAAGCGATCCTGAGCTCTGGGCCTCTGAACCCTGCTCTGCCAGCTACTGTGGGTGTCTCTACCCGCTCTGTGTCTCAGTTCCCTTTCCTGAAAAGAGGGGATAGTAAAAACTAACCCTCAAGGTGTTTATTACCAATGCCCTTCATGGAGGAATCCGCTGCTCCAGGCCCTTGCCAGCAGCTGCACAGCTGGGCCTGGGGACCTGGGTGTGGGTCTGTTGAACCTTGGCCCACCCTGGGGCTGTGGTCGGCCTGGACGTGTAGGTGTGGAGGTGCATATTTATTATGGCAATTTTCTGACAGGTAACAGAGTGTGGGGCTCTCTTCTGAATGGGGCTCGTGGAGGCCGTGGGTCAAAAGCCCTAATTTTGTAGTGAGGGCTAAAAGGCTTCACAAGGGAAAGGGCCTGGCTGGGGCTATGGGCCGGTGCCGACCCCCCCTCTCCCACTTTGTTTGCAGTTCTGGGAAGTCATCAGTGATGAGCATGGCATCGACCCCAGCGGCAACTACGTGGGCGACTCGGACTTGCAGCTGGAGCGGATCAGCGTCTACTACAACGAGGCCTCTTGTGAGTGCCTGCCCCAGCCTCCCTATCCCAGCCCTGGACTGACCAGGTCTCAGCGTCTGACTGACCAGGTCTCAGCACCTGGACTCACCAGCTCTCAGCATCTCTGTCCTCCCATGGGTTAGGTTGGCTGAGATGCCAGCAGGCGTAACTGGATGTCAGGCATCCAGACGCACAGAACAGACAATAAATCACAGTCACAAAAGTGAGAGCCAAACATATTAGTGCCATGAGGGCCTGTGCGTGTCCAGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCAGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGA
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Task1_train_23137
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Given this variant in gene TUBB3 (tubulin beta 3 class III) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Inborn genetic diseases
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AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
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AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGCTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
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Task1_train_23138
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Located on Chromosome 16, this mutation impacts TUBB3 (tubulin beta 3 class III). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
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AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
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AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGCTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
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Task1_train_23139
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A sequence alteration has been identified in TUBB3 (tubulin beta 3 class III) on Chromosome 16. Is it disease-inducing or harmless?
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Pathogenic; Complex cortical dysplasia with other brain malformations 1
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AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
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AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGCTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
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Task1_train_23140
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A mutation in TUBB3 (tubulin beta 3 class III), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Complex cortical dysplasia with other brain malformations 1
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CTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACA
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CTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGATGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACA
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Task1_train_23141
|
Chromosome 16 houses a mutation in gene TUBB3 (tubulin beta 3 class III). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Complex cortical dysplasia with other brain malformations 1
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CTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCC
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CTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACAAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCC
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Task1_train_23142
|
A genomic change on Chromosome 16 affects TUBB3 (tubulin beta 3 class III). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; not provided
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GTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGC
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GTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCCGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGC
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Task1_train_23143
|
A variant has been detected on Chromosome 16 in TUBB3 (tubulin beta 3 class III). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
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CAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTC
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CAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGTGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTC
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Task1_train_23144
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Assess the clinical impact of this variant on gene TUBB3 (tubulin beta 3 class III), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
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AAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGA
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AAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCACCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGA
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Task1_train_23145
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Assess the clinical impact of this variant on gene TUBB3 (tubulin beta 3 class III), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Complex cortical dysplasia with other brain malformations 1
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AAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAG
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AAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGTCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAG
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Task1_train_23146
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This genomic variant is located on Chromosome 16, within the TUBB3 (tubulin beta 3 class III) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; not provided
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AAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCA
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AAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCTGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCA
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Task1_train_23147
|
A mutation found in TUBB3 (tubulin beta 3 class III) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
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CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
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CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGTGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
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Task1_train_23148
|
Gene TUBB3 (tubulin beta 3 class III) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Inborn genetic diseases
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CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
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CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGTGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
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Task1_train_23149
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Here’s a variant in TUBB3 (tubulin beta 3 class III) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Complex cortical dysplasia with other brain malformations 1
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CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
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CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGTGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
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Task1_train_23150
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A variant affecting Chromosome 16, within the gene TUBB3 (tubulin beta 3 class III), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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TTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCA
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TTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCTCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCA
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Task1_train_23151
|
This variant lies on Chromosome 16 and affects the gene TUBB3 (tubulin beta 3 class III). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; TUBB3-related disorder
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CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
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CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCAAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
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Task1_train_23152
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This mutation is located in gene TUBB3 (tubulin beta 3 class III) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; TUBB3-Releated Disorders
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CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
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CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCAAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
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Task1_train_23153
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A mutation in TUBB3 (tubulin beta 3 class III), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Complex cortical dysplasia with other brain malformations 1
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CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
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CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCAAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
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Task1_train_23154
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Given this context: Chromosome 16, gene TUBB3 (tubulin beta 3 class III) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; TUBB3-related tubulinopathy
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CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
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CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACAACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
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Task1_train_23155
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The gene TUBB3 (tubulin beta 3 class III) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Complex cortical dysplasia with other brain malformations 1
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CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
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CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACAACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
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Task1_train_23156
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Here is a genetic alteration in TUBB3 (tubulin beta 3 class III) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
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CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
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CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACCACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
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Task1_train_23157
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This gene mutation involves VPS53 (VPS53 subunit of GARP complex) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Pontocerebellar hypoplasia type 2E
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GGTCAGTTCCACGTGCCCTTGCAATTGCTCGAGGACTCTGGGGCCCAAAGATAAAGAACTCACTTTATATAGTACTCAGAGAACAAAGAGCAGAAAAATGTCTCCCATCCCATTTTCAGCATAAGTATTAAAGCAAAACCTAATTTAGGATCTGGCACCCTTGTGGCAAGGCAGACACAGCTGAGGTTGGGCTAAATCTTAGCTTCCAATGCCATAGCTTTTGTTCAAGTTTGGATGGCAGCTGCTCCACTACTGGAGGCAGCGTCTGTTTCAGTCTATGAACACTGCTGAGTTAACTTGATTCTGATGGTTCTGCTGCCTGAGTGAACACGCCTGCAGCTACATGGCTGCTTGAGTTTCAAGGCCCAGACATCAGGGCAAGTACAGGCCCAGCCAAACCTCAACTCATGTGAGAATCGTTCAGGGGCCACGTTGCCCTGTAGTTCCCACCCACACCCTCCCCATTCTGGGCCTGTCAAGATCCACACTCCCCTACTGCCCACCTGAACTGGCCTGGGGTCTGATTAAGTAAAACTCCAGTTCCAGCAGATGGTTTTCTCATCCACACCTCAAAACGGAAGTAAACATAGGATGTTGGCTGTGGGTTTGTTAAAAAATAATAACAATAATGGATGTAAGCACTGGATGAACTGATATTTTTCTGAAGATATTGGCTTTGGGTCTGAGCTTACTATAATCATTAAAAGACTCTTTTTTTTTTTGTGGGGCAGATGGTGTCTTACTCTGTTGCCCAGGCTTCAGTGCAGCGGCACGATCATAGCTCACTTCAGCCTGGATTCAAAGAATCCTCCGACTTCAGCCTCCTCCTGAGCAGCTGGGACTACAGGTGTGGACCGTTTTTTAGCTAATGTTTTATTTTTTTTGAGAGATAGGGTTGCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCTAGTGATCCTCCCATCTCAGCCTCCCATCACTGGGATTTATTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAGCAGTGGCGTGATCTGAGCTCACTGCAACCTCCACCTCCACCTGCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTGTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTGAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCATCACGCCCGGCTAATTTTTTGTATTATTAGTAGAGACAGGGTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTGGGCCTCCCAAAGTGCTAGGATTACAGACGTGAGCCACCATGCCCGGCCAATATTCCAAGTTTTTTGCTAGTTTTTTTGTTTGTTTGTTTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGATATCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCCTGCCCCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGCTCTCAAATTCCTTACCCCAGGTGATCTGCCTGCCCAGGCCTCCCGAAATGCTGGGGTTACAGCGTGAGCCGCTGTGCCCGGCCCAGCCACTTCTTCTTATTGGAGTGTGAGCACTAGGAGCAGGGACCTTTCCATGGTGCTTGCTGTGTTATACCCTGCACCCAGAACTTAGTAGGCGTTCAAACAAAATTTTTAAAAATAAATGGAAGAACGAATTAAGAAACCTTCCGGGTGAGTCATTATACTGTCCCCAAACAGGGGACATCATCAATTTTATTCCTGCCAAGTAGATCTGGACTAGAAGAATATGTGCTTGATCTACAACAAAAGCTGCCAGGCAAATGCCTGATACTACGTCCATCTCACCTGTTCTGCTCCCACCATGCTAATTGGCTTGCACTTGAAGAGGTGGGTGATGAATTTGGGAATGAAGGAGCTGTGGATAAAAAAGAAGTGACAAATTAGGCTTATTCTCTCTTGAGGAAAGAAATGCAAAAACTTTAAGGTTCCACGTATCTCCATGAAAAAACCTTTTTTAATGAAGAATCGAAGTGGACTCCACTGTTGCCCATTATCTTATTTTTCTTCTGAGTGAAGTCCTGGTTTTGTTTAGTTACATGAGGCCCTGGCAGGCCCGGGAAAACCGGATCCCATCCTAGACTCCCAGTGAACTCTAACTATTCTCAGCTCGTCAGAGCACAGCATTCCTTTGGTGACTGTTGTTTGTCCTGAGAGGGAATATGATCGAAGCTAGCCCAATCAGACTGGATGTAAGGGCTACAGGCACCGCACCTGGCTACTTTTTAATTTTTTTGTAGAGGCAGGATTTCGTTATGCTGCCCAGGCTGGGCTCAAACTCCTGGCTTCAAGCAGTCCTCCTCCCTTGGGCTCCGGAAGTGCTGGGATTACAAGCGTGAGCCACTGGGCCAGGCTTCCTTGATTCTTCATTCTCTGTCTCCAGCCTCATCCTGCTAAGCCCTGGCCTCCCTATGCTTCAACCCAACTGAGCCACTTGCAGATCCCAGGATTCTGGGGGCTATTTAATGCCTACACTGCTCCCTCGCCTGGACTGCCTTTCCTAGAAGGGGCTTGTGGGTCAGTACACACGCACCTCTCAGATCCTGTTCAACGGCGTCTCTAGAAAGCCTTTCTTCTGCTGCCTTCGCCATACTCTACATGGAGTCTGCAGGCCTCCACCCTCACATCTAACCTAGTTCATTATGCTCATTTGCTTACATGTCTATTTTGCTTCACCTGACTATTAAGGCAAACGAAGATGGGGGCCATGTTTATCAGGCCAAAACATTTAACTCTGGGTCTGAGACATAGGAGATGCTCAAGTGAATGCACATTGAGTAAATCATAAACTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTGGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCACCAGCATACCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCTCTTGCCTCGGCCCCACAAAGCGCTGGGATGACAGGCGTGAGCCACCGCGCCCAGCCACCTACCACTTTTTGAATGTCAGCTTGGTATCAGCACTTTACCAGGAAGTTAATATGTGACTTCTCATTTTATCTTCCCAACCACTATTATGAGATTTGTCTCATTATCTCCTTGATTGAAGGGAGGAGGATCAGCTCAGTGGATGAGGGAAGTTGCTTGTGGTTCAACTGCAGTTTCAACCAGGCTGTGGATTTTGATGTCTCAACAGGAAAGGCTGCTATTGCTTAAGACAGCAAACGAGGTAAAAGGAAACATCTATGGTTTTGCAGGGGTGGGGTAGAAAGGAAGCTGAGGGAGAGGAAACTGGAGTCCGGAGATCGGATCTGGAGGTGGCTTGTGATCAGGAAGGAGAGTAAACAAGGGGCTATTTGGAAGGAATTCCTCAGTGCTGGAAACCAGAGCCAGACAAGCAACATGAAACTGAACTCATGACCAATGGCAGCTGTGCACACAGCGCTTTGTAACCTAAGTTGCTTCACATTAGAACATGCTCCGGACTGGGCATGGCAGCTCATGCCTATAATCCCAGCACTCTGAGAGGCCCAGGCAGGTGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTCATCTCTACAAAAAATAGAAAAATGAGCTAGGCCGGGTGGCGAGCGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGATGGGGGCTGCAGTGAGCTGTGGTTGCACCACTGCACTCCAGC
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GGTCAGTTCCACGTGCCCTTGCAATTGCTCGAGGACTCTGGGGCCCAAAGATAAAGAACTCACTTTATATAGTACTCAGAGAACAAAGAGCAGAAAAATGTCTCCCATCCCATTTTCAGCATAAGTATTAAAGCAAAACCTAATTTAGGATCTGGCACCCTTGTGGCAAGGCAGACACAGCTGAGGTTGGGCTAAATCTTAGCTTCCAATGCCATAGCTTTTGTTCAAGTTTGGATGGCAGCTGCTCCACTACTGGAGGCAGCGTCTGTTTCAGTCTATGAACACTGCTGAGTTAACTTGATTCTGATGGTTCTGCTGCCTGAGTGAACACGCCTGCAGCTACATGGCTGCTTGAGTTTCAAGGCCCAGACATCAGGGCAAGTACAGGCCCAGCCAAACCTCAACTCATGTGAGAATCGTTCAGGGGCCACGTTGCCCTGTAGTTCCCACCCACACCCTCCCCATTCTGGGCCTGTCAAGATCCACACTCCCCTACTGCCCACCTGAACTGGCCTGGGGTCTGATTAAGTAAAACTCCAGTTCCAGCAGATGGTTTTCTCATCCACACCTCAAAACGGAAGTAAACATAGGATGTTGGCTGTGGGTTTGTTAAAAAATAATAACAATAATGGATGTAAGCACTGGATGAACTGATATTTTTCTGAAGATATTGGCTTTGGGTCTGAGCTTACTATAATCATTAAAAGACTCTTTTTTTTTTTGTGGGGCAGATGGTGTCTTACTCTGTTGCCCAGGCTTCAGTGCAGCGGCACGATCATAGCTCACTTCAGCCTGGATTCAAAGAATCCTCCGACTTCAGCCTCCTCCTGAGCAGCTGGGACTACAGGTGTGGACCGTTTTTTAGCTAATGTTTTATTTTTTTTGAGAGATAGGGTTGCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCTAGTGATCCTCCCATCTCAGCCTCCCATCACTGGGATTTATTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAGCAGTGGCGTGATCTGAGCTCACTGCAACCTCCACCTCCACCTGCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTGTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTGAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCATCACGCCCGGCTAATTTTTTGTATTATTAGTAGAGACAGGGTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTGGGCCTCCCAAAGTGCTAGGATTACAGACGTGAGCCACCATGCCCGGCCAATATTCCAAGTTTTTTGCTAGTTTTTTTGTTTGTTTGTTTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGATATCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCCTGCCCCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGCTCTCAAATTCCTTACCCCAGGTGATCTGCCTGCCCAGGCCTCCCGAAATGCTGGGGTTACAGCGTGAGCCGCTGTGCCCGGCCCAGCCACTTCTTCTTATTGGAGTGTGAGCACTAGGAGCAGGGACCTTTCCATGGTGCTTGCTGTGTTATACCCTGCACCCAGAACTTAGTAGGCGTTCAAACAAAATTTTTAAAAATAAATGGAAGAACGAATTAAGAAACCTTCCGGGTGAGTCATTATACTGTCCCCAAACAGGGGACATCATCAATTTTATTCCTGCCAAGTAGATCTGGACTAGAAGAATATGTGCTTGATCTACAACAAAAGCTGCCAGGCAAATGCCTGATACTACGTCCATCTCACCCGTTCTGCTCCCACCATGCTAATTGGCTTGCACTTGAAGAGGTGGGTGATGAATTTGGGAATGAAGGAGCTGTGGATAAAAAAGAAGTGACAAATTAGGCTTATTCTCTCTTGAGGAAAGAAATGCAAAAACTTTAAGGTTCCACGTATCTCCATGAAAAAACCTTTTTTAATGAAGAATCGAAGTGGACTCCACTGTTGCCCATTATCTTATTTTTCTTCTGAGTGAAGTCCTGGTTTTGTTTAGTTACATGAGGCCCTGGCAGGCCCGGGAAAACCGGATCCCATCCTAGACTCCCAGTGAACTCTAACTATTCTCAGCTCGTCAGAGCACAGCATTCCTTTGGTGACTGTTGTTTGTCCTGAGAGGGAATATGATCGAAGCTAGCCCAATCAGACTGGATGTAAGGGCTACAGGCACCGCACCTGGCTACTTTTTAATTTTTTTGTAGAGGCAGGATTTCGTTATGCTGCCCAGGCTGGGCTCAAACTCCTGGCTTCAAGCAGTCCTCCTCCCTTGGGCTCCGGAAGTGCTGGGATTACAAGCGTGAGCCACTGGGCCAGGCTTCCTTGATTCTTCATTCTCTGTCTCCAGCCTCATCCTGCTAAGCCCTGGCCTCCCTATGCTTCAACCCAACTGAGCCACTTGCAGATCCCAGGATTCTGGGGGCTATTTAATGCCTACACTGCTCCCTCGCCTGGACTGCCTTTCCTAGAAGGGGCTTGTGGGTCAGTACACACGCACCTCTCAGATCCTGTTCAACGGCGTCTCTAGAAAGCCTTTCTTCTGCTGCCTTCGCCATACTCTACATGGAGTCTGCAGGCCTCCACCCTCACATCTAACCTAGTTCATTATGCTCATTTGCTTACATGTCTATTTTGCTTCACCTGACTATTAAGGCAAACGAAGATGGGGGCCATGTTTATCAGGCCAAAACATTTAACTCTGGGTCTGAGACATAGGAGATGCTCAAGTGAATGCACATTGAGTAAATCATAAACTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTGGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCACCAGCATACCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCTCTTGCCTCGGCCCCACAAAGCGCTGGGATGACAGGCGTGAGCCACCGCGCCCAGCCACCTACCACTTTTTGAATGTCAGCTTGGTATCAGCACTTTACCAGGAAGTTAATATGTGACTTCTCATTTTATCTTCCCAACCACTATTATGAGATTTGTCTCATTATCTCCTTGATTGAAGGGAGGAGGATCAGCTCAGTGGATGAGGGAAGTTGCTTGTGGTTCAACTGCAGTTTCAACCAGGCTGTGGATTTTGATGTCTCAACAGGAAAGGCTGCTATTGCTTAAGACAGCAAACGAGGTAAAAGGAAACATCTATGGTTTTGCAGGGGTGGGGTAGAAAGGAAGCTGAGGGAGAGGAAACTGGAGTCCGGAGATCGGATCTGGAGGTGGCTTGTGATCAGGAAGGAGAGTAAACAAGGGGCTATTTGGAAGGAATTCCTCAGTGCTGGAAACCAGAGCCAGACAAGCAACATGAAACTGAACTCATGACCAATGGCAGCTGTGCACACAGCGCTTTGTAACCTAAGTTGCTTCACATTAGAACATGCTCCGGACTGGGCATGGCAGCTCATGCCTATAATCCCAGCACTCTGAGAGGCCCAGGCAGGTGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTCATCTCTACAAAAAATAGAAAAATGAGCTAGGCCGGGTGGCGAGCGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGATGGGGGCTGCAGTGAGCTGTGGTTGCACCACTGCACTCCAGC
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Task1_train_23158
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Here is a variant affecting GEMIN4 (gem nuclear organelle associated protein 4) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
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CTGGCACTTCACACTTGAAGTGCCCCTCGAAGAAGCTCTTCAGCCTCAGGCCCACAGTCCAGTCTAGCTGTTCTAACTTGCGGTGGAGCCAGGACAGGGACTTGATCCAGACATCCGGGGAGAAGGTCTCAGCATTGGCTGATACAATCTCACACAGGAGCTCCAGGATATGGATCGCTAGATCCTTCCTATCCAAAGAGAGGCACCGCTTCTCCTTGGGAAGCTGCCAGTATTTGCTGAAGCGGTCCAAGAGCTGGCACAAGCTGAAGAGGAGTGGAAACGGGGAGCAGGTCTGGAGCCAGTATTCCTCTCGGCACGCGTTTGCCTCTAGAGTCTGGATGAAGATCCTCAGACTGAGGTCTACCTCTTCAACATCTAACCTCAAGAAAGGCAGGACAAATTCCTTCAGCACCTCGTCTGGCTCAAGAAGAGCAGCCACTGGAATCCCTTGGGGTTTCACGGGACTCATCAGGCAGTTCAGGAGCTCTAAAAATTGCTTTTCTTCCTTGGGTGTAGAGAACTTCATCCAGACGGTTTCTTTGAGGCATGACACCATGAAAGTGGCAGATGAATTGGGACCCTGCTCTTCCACAAACCTAAGGGCAGGGAAGGCAGTGAGAATCTGGGCCAGGAACTTGTGGGTGCCGAGATTGACCACAGCCAGGCTGCACATTTTCTTCACCGTGACTTCCGGGTGCACTATGACCAGGCGGGCCACGGAGGCCACAGCTTTTGCCAAGCCCTGTTCGGAGGCACTCTGAGTGAGCTGGTTAAAAGTTGTATTGAGGTCTTCCTGAAAACCCTCCACATAAGCCAGCAACTTTTCAGAGAGGCCCTTTCGCCCCCAGGAACGCAGGATACCTGCAAGGACTTTATTTTTACCTGGCAGGGAGAGGTCTGCGTAACATTCCAGGATCAGGTGGATCACCTGCCGGATCTGAGACTCAGGGATGGCTCTGTCAGCTGTGCTGACGTCTATCACTGTTTCCAGCAGCCTCAACACCAAGTCTGGCTGTCGGAAGAGGGCCCTGTTACTCCCCAGGCAGGCTACCCACTCGTCCGAGAAGGCCCACTTCTTCTCAGAGGCAAAAATGTAGCACACTTCCATATGGCGGTCCATCTTCTGCTGGATGACGGCCATGGCAATGGAAGCTGTGATATCCTCCAAGGCCCTGTTCTTCAGCACCGTGCTCGTTTTCCTCAGGAAGTCCCTGACACACTCCGCCAGCTCAGAGACCACCTGCCTGTCCTCCTTGGACAGGCTGGTGCGGTTCAGGTAGAGCGTCGCGTTCTGGCTGAAGGAAGTCAGACTGTCGCACAGCCGGTAGCTGTCGTAACTTGTCCCCTGGCTGCTGCGGAGCACGGCCTGCAACTCCTCCCCCCACTCCCGCAGCAGGTGGTGCAGGAACTCGCAGCCCACGAAAATGGTCTCACTGGGGAGTTTGGCCAGCGAGGTCAGGCTGACATCCCGTTCTGCCTCCTTCACCTTCTCTGCCAGCGCCTGCTGGTGGTAGGGATTCTGGGTGTCCGAGTTCCACACAGAGATCACCGTGGCCAGTTTGTCCAGATACACGGTTGCAGACACCTCCTGGGGGTCGTCCTCTGTCAGCGCAAACACAGTCAGCATGTCAGCCAGGTTGGCCAGCGCACAGCACTTCCTCCCCGGGCCCAGGATCCGACTCTGGATCTGTGTCAGCCCGCGGAGCAGCATGGCCAACAGGGGCATGGTGGGGCACGCGTCTGGGTCTGACCTAAGCCTCTTTGGAGGATGGGGGAACTCATCTAAGGCAGGCAGGTACTTATGGGCCATTGCACTAAACTGGGAGAGCAGGGGGTCCTGCGGGTGACCCTTGTGCTTCATCACCTCCCACCAGACGTCCAGGAAGAAGGCCACGTCTTCGGCAGAAGTGTCAACGGTCACATGTTCCAGAAAGCGCTCTAGTTCTGCATGGCAGATGGTGGTGGGCAGGGCCATCAGGAGCTGGATAAAGAGTCCAGAAGCTTCCAGGGATTTGAGCAGCTCGAAGAGGATGGTGTGGTTGATGGTGGGGATCATGTTGCCCACCGAGAAGAACAGGTCTTCCTGCCACCGTGTCTCTGTGTCGGACGGGGTCACGGGGTGCGGCTGCAGAACCTTGGCCCAGATGATGATCAGGGCTTTCTTCTTCCAGGCAAAGGGCTGGGAGTGTGCTGCAGCCGAGGAGATCTCCCTTAAGGCCTCCACGATGGGCCGTCCAACACGTTCCCAGTCAGACTTTGTTAATTCTGCCAGTGCCTTAGGGTGGAACAGCTGCTCGGCCAGCAAGAAGCCTCCATGCAGAATAGTCATTTCTTCACAGATGTTCAAGGGTCCTGCACACAGACAAGCCAAATAAGACAGTATAGTGAAAATGTTTCCAGATGGCCACTGCTGTTAGTAGGCTGTCATGGTTTGAGATGACAAGGGTTTTAAAGGACATCAGCGGACGGGGAGAAGGGATGACTACAAGAGCCACTGCACAGCTGGAGTCAGAAGGACTTGGCCGAGGAATCCAGAATGGCTTCCGAGCTCTCCAGCCTGGGAACTGGGAGGCCACCAGGTGACATCACATACAGGGAATGGAGGAGAATCAGAGCAGGTGTGAGGAAAGATGAGTTCAGCTTTGGCCATCAAGGTACAGATGTCCTCCAGCAACGGAAATGCCAGGTGGAAGTTCAGGAGGGAAGTAAGCTGGGAAATGTGATTCTGAGAGGTATCTGCCCAGAGGGGATCACCGGAACCAAGACGGTGAATGAGATCCTTCAGGAAAAGTGTGTGAAAAGAAAAAGCTGGGCTGCTGAGGCGAGACCCTCCAGCAAAGGCTGGGCCAGCAGAGGATGTGGGGAGAGGGGTTTAGAAATAGGAGGACAGTACAAACTACAGGGGCCACTGAGCATGTACCACAGGACATGACAGCTGAGCTTCTCATGACAGATGAAGGGAGCATAGCCACAGGGTAATGGGCACAGAGCAATCACACAGCCACAGGGTAACAGGCACAGCAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGCAGCAATCACACAGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAGGGTAATGGGCACAGAAGCAATCACACGGCTACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAGTCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAGGGTAATGGGCACAGAAGCAATCACACGGCTACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAAGGTAATGGGCACAGCAGCAATCACACGGCTACAGGGTAATGGGCACAGAGCGATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGCAGCAATCACGCAGCCACAGGGTAACGGGCACAGCAGCAGTCACACAGCCACAGGGTAATGGGCACAGAGCAATCACATAGCCACAGAGCAATGGGCACAGAAGGA
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CTGGCACTTCACACTTGAAGTGCCCCTCGAAGAAGCTCTTCAGCCTCAGGCCCACAGTCCAGTCTAGCTGTTCTAACTTGCGGTGGAGCCAGGACAGGGACTTGATCCAGACATCCGGGGAGAAGGTCTCAGCATTGGCTGATACAATCTCACACAGGAGCTCCAGGATATGGATCGCTAGATCCTTCCTATCCAAAGAGAGGCACCGCTTCTCCTTGGGAAGCTGCCAGTATTTGCTGAAGCGGTCCAAGAGCTGGCACAAGCTGAAGAGGAGTGGAAACGGGGAGCAGGTCTGGAGCCAGTATTCCTCTCGGCACGCGTTTGCCTCTAGAGTCTGGATGAAGATCCTCAGACTGAGGTCTACCTCTTCAACATCTAACCTCAAGAAAGGCAGGACAAATTCCTTCAGCACCTCGTCTGGCTCAAGAAGAGCAGCCACTGGAATCCCTTGGGGTTTCACGGGACTCATCAGGCAGTTCAGGAGCTCTAAAAATTGCTTTTCTTCCTTGGGTGTAGAGAACTTCATCCAGACGGTTTCTTTGAGGCATGACACCATGAAAGTGGCAGATGAATTGGGACCCTGCTCTTCCACAAACCTAAGGGCAGGGAAGGCAGTGAGAATCTGGGCCAGGAACTTGTGGGTGCCGAGATTGACCACAGCCAGGCTGCACATTTTCTTCACCGTGACTTCCGGGTGCACTATGACCAGGCGGGCCACGGAGGCCACAGCTTTTGCCAAGCCCTGTTCGGAGGCACTCTGAGTGAGCTGGTTAAAAGTTGTATTGAGGTCTTCCTGAAAACCCTCCACATAAGCCAGCAACTTTTCAGAGAGGCCCTTTCGCCCCCAGGAACGCAGGATACCTGCAAGGACTTTATTTTTACCTGGCAGGGAGAGGTCTGCGTAACATTCCAGGATCAGGTGGATCACCTGCCGGATCTGAGACTCAGGGATGGCTCTGTCAGCTGTGCTGACGTCTATCACTGTTTCCAGCAGCCTCAACACCAAGTCTGGCTGTCGGAAGAGGGCCCTGTTACTCCCCAGGCAGGCTACCCACTCGTCCGAGAAGGCCCACTTCTTCTCAGAGGCAAAAATGTAGCACACTTCCATATGGCGGTCCATCTTCTGCTGGATGACGGCCATGGCAATGGAAGCTGTGATATCCTCCAAGGCCCTGTTCTTCAGCACCGTGCTCGTTTTCCTCAGGAAGTCCCTGACACACTCCGCCAGCTCAGAGACCACCTGCCTGTCCTCCTTGGACAGGCTGGTGCGGTTCAGGTAGAGCGTCGCGTTCTGGCTGAAGGAAGTCAGACTGTCGCACAGCCGGTAGCTGTCGTAACTTGTCCCCTGGCTGCTGCGGAGCACGGCCTGCAACTCCTCCCCCCACTCCCGCAGCAGGTGGTGCAGGAACTCGCAGCCCACGAAAATGGTCTCACTGGGGAGTTTGGCCAGCGAGGTCAGGCTGACATCCCGTTCTGCCTCCTTCACCTTCTCTGCCAGCGCCTGCTGGTGGTAGGGATTCTGGGTGTCCGAGTTCCACACAGAGATCACCGTGGCCAGTTTGTCCAGATACACGGTTGCAGACACCTCCTGGGGGTCGTCCTCTGTCAGCGCAAACACAGTCAGCATGTCAGCCAGGTTGGCCAGCGCACAGCACTTCCTCCCCGGGCCCAGGATCCGACTCTGGATCTGTGTCAGCCCGCGGAGCAGCATGGCCAACAGGGGCATGGTGGGGCACGCGTCTGGGTCTGACCTAAGCCTCTTTGGAGGATGGGGGAACTCATCTAAGGCAGGCAGGTACTTATGGGCCATTGCACTAAACTGGGAGAGCAGGGGGTCCTGCGGGTGACCCTTGTGCTTCATCACCTCCCACCAGACGTCCAGGAAGAAGGCCACGTCTTCGGCAGAAGTGTCAACGGTCACATGTTCCAGAAAGCGCTCTAGTTCTGCATGGCAGATGGTGGTGGGCAGGGCCATCAGGAGCTGGATAAAGAGTCCAGAAGCTTCCAGGGATTTGAGCAGCTCGAAGAGGATGGTGTGGTTGATGGTGAGGATCATGTTGCCCACCGAGAAGAACAGGTCTTCCTGCCACCGTGTCTCTGTGTCGGACGGGGTCACGGGGTGCGGCTGCAGAACCTTGGCCCAGATGATGATCAGGGCTTTCTTCTTCCAGGCAAAGGGCTGGGAGTGTGCTGCAGCCGAGGAGATCTCCCTTAAGGCCTCCACGATGGGCCGTCCAACACGTTCCCAGTCAGACTTTGTTAATTCTGCCAGTGCCTTAGGGTGGAACAGCTGCTCGGCCAGCAAGAAGCCTCCATGCAGAATAGTCATTTCTTCACAGATGTTCAAGGGTCCTGCACACAGACAAGCCAAATAAGACAGTATAGTGAAAATGTTTCCAGATGGCCACTGCTGTTAGTAGGCTGTCATGGTTTGAGATGACAAGGGTTTTAAAGGACATCAGCGGACGGGGAGAAGGGATGACTACAAGAGCCACTGCACAGCTGGAGTCAGAAGGACTTGGCCGAGGAATCCAGAATGGCTTCCGAGCTCTCCAGCCTGGGAACTGGGAGGCCACCAGGTGACATCACATACAGGGAATGGAGGAGAATCAGAGCAGGTGTGAGGAAAGATGAGTTCAGCTTTGGCCATCAAGGTACAGATGTCCTCCAGCAACGGAAATGCCAGGTGGAAGTTCAGGAGGGAAGTAAGCTGGGAAATGTGATTCTGAGAGGTATCTGCCCAGAGGGGATCACCGGAACCAAGACGGTGAATGAGATCCTTCAGGAAAAGTGTGTGAAAAGAAAAAGCTGGGCTGCTGAGGCGAGACCCTCCAGCAAAGGCTGGGCCAGCAGAGGATGTGGGGAGAGGGGTTTAGAAATAGGAGGACAGTACAAACTACAGGGGCCACTGAGCATGTACCACAGGACATGACAGCTGAGCTTCTCATGACAGATGAAGGGAGCATAGCCACAGGGTAATGGGCACAGAGCAATCACACAGCCACAGGGTAACAGGCACAGCAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGCAGCAATCACACAGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAGGGTAATGGGCACAGAAGCAATCACACGGCTACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAGTCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAGGGTAATGGGCACAGAAGCAATCACACGGCTACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAAGGTAATGGGCACAGCAGCAATCACACGGCTACAGGGTAATGGGCACAGAGCGATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGCAGCAATCACGCAGCCACAGGGTAACGGGCACAGCAGCAGTCACACAGCCACAGGGTAATGGGCACAGAGCAATCACATAGCCACAGAGCAATGGGCACAGAAGGA
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Task1_train_23159
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This variant affects gene BHLHA9 (basic helix-loop-helix family member a9) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Mesoaxial synostotic syndactyly with phalangeal reduction
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TCGCTCTGTCCGCCAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAACCTGGGAAATACAGATGTCCTTAGGATGCTTTCATCCTAGTGGGCAAGGCAGACAATCACAGAAGTAAATACATACACTCTGCTTCCTAATGCCTTATTATTTTCTTTTATGGAGAAATTCACAGTTTGAAATAATGGGGTTATTGGCAATGCTCTTTTGGCGAGATGGATGTGAACCACACACCCATTCCAATGCCATAGGCCTTGGCATCTTAGAGGCATTTGGATTGTGACTGGGAATGAGTGGCCTTCAGGCGCTCCAAATAACTCAGCTGTGGATGCCGGAAATTCTACTGGGGGTCTTTCTTTGGGAATAAACATCATCTTTTTTCTGAGACCCTCTTTCAAATGCAAATCCCTGGGGGAAGAGGACAGAGGCTGCTCATTGAGTTCATAACCTGGCAGGGCTGTGTCACAAGATGGGGCTGCCCGAGGGCTCTGGACCCCAAAGATGCCCCTGATGTGGACCCAGGGCTGCAAAGGGATCTTCCCCGTCACCCTCTGCTGCTGACTCATCCCAGCTCTGCCTGCAGAAGGGGAGTCAAAGGGCAGTGGAGGGAGAGTCAGGCCCAACCAAAACCCGAACCCCAATTGCAGCCAGCCGCCCTCCATAGCTGAAAAAGCCGGAAGCTCTGGGTCAGCTTTACCTGCAGGGCCCTGCGCCTCCCATATGAGTCCTGCCGGGACACTCATGCTTTTCCTCAGTGACATCTCTGTGGTTGCCCACGGGACTTGACAAGAACTTTCAAGGTTTTGTTGTTGTTTTTGTTGTTGTTTTTCTGAGACGGAGTCTCGTTCTGTCTCCCAGGCTAGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCAGCTCCTGGGCTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGACGGGGTTTTATATACTCTGTTGGCCAGGCTGGTCTCGAACTCCTGAACTCAAGTGATCCGCCCGCCTCGGCCTCCCAAACTGCTGGGATGACAGGCGTGAGCCCCAGTGCCCGGCCCTCTGCCTCTTTTTATTCCTATCAGCTCTCCTGCTAGAAGCCAAACTTAGCACCTTATCTGGGAATGGGGAGGAAGAATGTGGAACCCAGACACCCCACAGCGGCCCCAGAGCTAGGCAGGGCAAGGTCCCCGGGGCAGCGTGGCCGGGCTGCCCGTCTGGTCCCCGCTTACAAGAACCTGCAAGCTTCCCTCCTTGCTTTCCTTCTTCCCCTCGGTTCCTCCCCCGCCGACCTACCTGGAGGCCGATAATAAAGCAGGAGGAGGGAGATGGATGGACGGGAGGGCGGGGCGCCGCGTGGTGCCATAAAGCCCAGCTGGAAGGGGCCTGTCTCGGGAGTGTCCAGCCCCAGGAGCCGGGGACCGTCCGCGTCGCGAGCCGGGCCAAGGCAGTGGGCAGAGGGCAGAGGGCAGAGGGCCGGGGCTGGGGCAGAGGGCGAGTGCCCGGGAAGGCCATGCTGCGGGGCGCGCCAGGACTAGGCCTCACGGCGCGGAAGGGGGCCGAGGACTCTGCGGAGGACTTGGGGGGCCCCTGCCCCGAGCCCGGGGGCGATTCGGGGGTGCTGGGGGCGAACGGCGCTTCCTGCAGCCGGGGCGAGGCGGAGGAGCCGGCGGGCAGGAGGCGCGCGCGGCCGGTGCGGTCCAAGGCGCGGCGCATGGCCGCCAACGTGCGGGAGCGCAAGCGCATCCTAGACTACAACGAGGCCTTCAACGCGCTGCGCCGGGCGCTGCGGCACGACCTGGGCGGCAAGAGGCTCTCCAAGATCGCCACGCTGCGCAGGGCCATCCACCGCATCGCCGCGCTCTCCCTGGTCCTGCGCGCCAGCCCCGCGCCCCGCGGGCCCTGCGGACACCTGGAGTGCCACGGCCCGGCCGCGCGCGGGGACACCGGGGACACAGGCGCCAGCCCCCCGCCGCCTGCAGGGCCCAGCCTCGCGCGCCCAGACGCCGCCCGCCCCTCGGTGCCGTCCGCGCCCCGCTGCGCCTCGTGCCCCCCGCACGCGCCCCTGGCACGGCCCAGTGCGGTGGCCGAGGGGCCGGGCCTAGCACAGGCCTCCGGGGGAAGCTGGCGCCGCTGTCCGGGGGCTTCCTCTGCCGGGCCGCCTCCCTGGCCGCGGGGCTACCTGCGATCCGCCCCCGGGATGGGCCATCCGCGCTCCTGACCGGCCTCGAGGCACCGGCTGGGCTGCAGGGAGGCCGGGCTGGCAGCTGGACTATAAAACCCGGGACTGCAAAGGCGTCTTGGACAGAGCAGAACTGGACCGGCTGAGACCTGGCGTGGAAGAGAAGGAGCTCGCCAGAGAGAAGGAGCTCCGGGACCCGGGGTTGCGCCCCCACATCCCAGCCTGGGGCAGAGAGAAGGAGCTCCGGGGCCTGGGGCTGCGCCCCCACATCCCAGCCTAGGGAGGCAGTTGCCAGAAAGGCTCAGGATCCTGAACTCATCTTGGACTCGAACTCGTCTTGGAATGCCGCCTTCGCACTCCTGCGCCTCCGAGCCCTGTGTGTTCTCGATGCTTTTAGGAGAGTGAGGGCTTTGAGGCAGGAGGTGTGGGAGCGTGGGAATGCGGGTGGGGCCTGCTGTGGTCTCGTGGGCACATGAGTGCGGAGTCCCCTTCCCTGCCTGCGCTGCTGCCCAAGCCTGATCCGGGAGAGGCAGGATCCGGGAGAGGCAGGCAGGGGCAGCAGCCAAATAAAAGGAAAAACTCATTTCTCTCCGATACCACGACTCCAGTGGGCCCCGTGGCCCAGGGTGGCAGGAACGCCTGAGGGCTGGGGGCTCTCCTTGGAATGCTGGGCGGGGCCTAAGGCCCACAGGTAGGCGCCTGGGGGAACTCATTCATGGCAAGACCCCAGGTGTGGCTGAGCACTGTGGGAGCCCAAGGGGAGGAAAGAGACATCCAGAGACCCCTCCTCCCTGAGTCCCCTGGGGTGGAAGAGGATATCAGGAGAGGGGTCACGGGGCCTGGGAGTCTAAGGATGGGGTCAGCCCCGTCTCTGGACCTCCCTGCAGAGCTGCCTGGAAGCAGCCACAGTGAAGGGGGACTCTGGCCAGGTCTCAGGGAAGGAGGCCAAGGGCAGGGCTAGGATTGGGGGCCGGTAAGTCCTGCGTGCATGTACCCCGAGCGACAGGCAGGAAGAGCTCCCAGGGAACCGTGGGCCAGGGCCCCCATAATGAGGGGCCGACTTGGAACCCAGGAAGGATTCTGGGGAGGGGGTTGAGTGAGGGCAGAGGGGCCTCAGGCCAAGCCTGCTGAGCTAGTGAGAGACACAGCCAGCTGCCCCGAGAGTTTTGTCCAGAGAGCTGCCCTGCATCTGAGATGAGCTGGTGTCTGGCCCGGCTCAGGGTAAGGGTCTAATATTGCAAGGGCTGCCTGCTGGGCCAGAGCCCAGAGGTGCTGGGGGAGCGCTGGGCTCTTGCCAACAGGAGAGGGAAGGGTTCCCCACAGCTAGCTCAGAGTGCGGATCCCACAGAAGCTAGAGAAACGCCATTAGGCGTAAACCCAGGGAGAGTTTCCCAGAGCACGTGGGGTGAGGCTCACCTCTACAGTTAAAAGTGCCTCTGCTGTCTGCAAACCCCAGCCCTGGCTGGCACGCTGAGCATCCTGTCCCCAGCCACAGCCCTTAGGGTTCCCAATTGCGCAGGGAGGCTGTGACACAGACCACGGGAAGGCTTTGACTCTATTGAGAGCGGACGTGGGTCTAGCCAGGAGCA
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TCGCTCTGTCCGCCAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAACCTGGGAAATACAGATGTCCTTAGGATGCTTTCATCCTAGTGGGCAAGGCAGACAATCACAGAAGTAAATACATACACTCTGCTTCCTAATGCCTTATTATTTTCTTTTATGGAGAAATTCACAGTTTGAAATAATGGGGTTATTGGCAATGCTCTTTTGGCGAGATGGATGTGAACCACACACCCATTCCAATGCCATAGGCCTTGGCATCTTAGAGGCATTTGGATTGTGACTGGGAATGAGTGGCCTTCAGGCGCTCCAAATAACTCAGCTGTGGATGCCGGAAATTCTACTGGGGGTCTTTCTTTGGGAATAAACATCATCTTTTTTCTGAGACCCTCTTTCAAATGCAAATCCCTGGGGGAAGAGGACAGAGGCTGCTCATTGAGTTCATAACCTGGCAGGGCTGTGTCACAAGATGGGGCTGCCCGAGGGCTCTGGACCCCAAAGATGCCCCTGATGTGGACCCAGGGCTGCAAAGGGATCTTCCCCGTCACCCTCTGCTGCTGACTCATCCCAGCTCTGCCTGCAGAAGGGGAGTCAAAGGGCAGTGGAGGGAGAGTCAGGCCCAACCAAAACCCGAACCCCAATTGCAGCCAGCCGCCCTCCATAGCTGAAAAAGCCGGAAGCTCTGGGTCAGCTTTACCTGCAGGGCCCTGCGCCTCCCATATGAGTCCTGCCGGGACACTCATGCTTTTCCTCAGTGACATCTCTGTGGTTGCCCACGGGACTTGACAAGAACTTTCAAGGTTTTGTTGTTGTTTTTGTTGTTGTTTTTCTGAGACGGAGTCTCGTTCTGTCTCCCAGGCTAGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCAGCTCCTGGGCTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGACGGGGTTTTATATACTCTGTTGGCCAGGCTGGTCTCGAACTCCTGAACTCAAGTGATCCGCCCGCCTCGGCCTCCCAAACTGCTGGGATGACAGGCGTGAGCCCCAGTGCCCGGCCCTCTGCCTCTTTTTATTCCTATCAGCTCTCCTGCTAGAAGCCAAACTTAGCACCTTATCTGGGAATGGGGAGGAAGAATGTGGAACCCAGACACCCCACAGCGGCCCCAGAGCTAGGCAGGGCAAGGTCCCCGGGGCAGCGTGGCCGGGCTGCCCGTCTGGTCCCCGCTTACAAGAACCTGCAAGCTTCCCTCCTTGCTTTCCTTCTTCCCCTCGGTTCCTCCCCCGCCGACCTACCTGGAGGCCGATAATAAAGCAGGAGGAGGGAGATGGATGGACGGGAGGGCGGGGCGCCGCGTGGTGCCATAAAGCCCAGCTGGAAGGGGCCTGTCTCGGGAGTGTCCAGCCCCAGGAGCCGGGGACCGTCCGCGTCGCGAGCCGGGCCAAGGCAGTGGGCAGAGGGCAGAGGGCAGAGGGCCGGGGCTGGGGCAGAGGGCGAGTGCCCGGGAAGGCCATGCTGCGGGGCGCGCCAGGACTAGGCCTCACGGCGCGGAAGGGGGCCGAGGACTCTGCGGAGGACTTGGGGGGCCCCTGCCCCGAGCCCGGGGGCGATTCGGGGGTGCTGGGGGCGAACGGCGCTTCCTGCAGCCGGGGCGAGGCGGAGGAGCCGGCGGGCAGGAGGCGCGCGCGGCCGGTGCGGTCCAAGGCGCGGCGCATGGCCGCCGACGTGCGGGAGCGCAAGCGCATCCTAGACTACAACGAGGCCTTCAACGCGCTGCGCCGGGCGCTGCGGCACGACCTGGGCGGCAAGAGGCTCTCCAAGATCGCCACGCTGCGCAGGGCCATCCACCGCATCGCCGCGCTCTCCCTGGTCCTGCGCGCCAGCCCCGCGCCCCGCGGGCCCTGCGGACACCTGGAGTGCCACGGCCCGGCCGCGCGCGGGGACACCGGGGACACAGGCGCCAGCCCCCCGCCGCCTGCAGGGCCCAGCCTCGCGCGCCCAGACGCCGCCCGCCCCTCGGTGCCGTCCGCGCCCCGCTGCGCCTCGTGCCCCCCGCACGCGCCCCTGGCACGGCCCAGTGCGGTGGCCGAGGGGCCGGGCCTAGCACAGGCCTCCGGGGGAAGCTGGCGCCGCTGTCCGGGGGCTTCCTCTGCCGGGCCGCCTCCCTGGCCGCGGGGCTACCTGCGATCCGCCCCCGGGATGGGCCATCCGCGCTCCTGACCGGCCTCGAGGCACCGGCTGGGCTGCAGGGAGGCCGGGCTGGCAGCTGGACTATAAAACCCGGGACTGCAAAGGCGTCTTGGACAGAGCAGAACTGGACCGGCTGAGACCTGGCGTGGAAGAGAAGGAGCTCGCCAGAGAGAAGGAGCTCCGGGACCCGGGGTTGCGCCCCCACATCCCAGCCTGGGGCAGAGAGAAGGAGCTCCGGGGCCTGGGGCTGCGCCCCCACATCCCAGCCTAGGGAGGCAGTTGCCAGAAAGGCTCAGGATCCTGAACTCATCTTGGACTCGAACTCGTCTTGGAATGCCGCCTTCGCACTCCTGCGCCTCCGAGCCCTGTGTGTTCTCGATGCTTTTAGGAGAGTGAGGGCTTTGAGGCAGGAGGTGTGGGAGCGTGGGAATGCGGGTGGGGCCTGCTGTGGTCTCGTGGGCACATGAGTGCGGAGTCCCCTTCCCTGCCTGCGCTGCTGCCCAAGCCTGATCCGGGAGAGGCAGGATCCGGGAGAGGCAGGCAGGGGCAGCAGCCAAATAAAAGGAAAAACTCATTTCTCTCCGATACCACGACTCCAGTGGGCCCCGTGGCCCAGGGTGGCAGGAACGCCTGAGGGCTGGGGGCTCTCCTTGGAATGCTGGGCGGGGCCTAAGGCCCACAGGTAGGCGCCTGGGGGAACTCATTCATGGCAAGACCCCAGGTGTGGCTGAGCACTGTGGGAGCCCAAGGGGAGGAAAGAGACATCCAGAGACCCCTCCTCCCTGAGTCCCCTGGGGTGGAAGAGGATATCAGGAGAGGGGTCACGGGGCCTGGGAGTCTAAGGATGGGGTCAGCCCCGTCTCTGGACCTCCCTGCAGAGCTGCCTGGAAGCAGCCACAGTGAAGGGGGACTCTGGCCAGGTCTCAGGGAAGGAGGCCAAGGGCAGGGCTAGGATTGGGGGCCGGTAAGTCCTGCGTGCATGTACCCCGAGCGACAGGCAGGAAGAGCTCCCAGGGAACCGTGGGCCAGGGCCCCCATAATGAGGGGCCGACTTGGAACCCAGGAAGGATTCTGGGGAGGGGGTTGAGTGAGGGCAGAGGGGCCTCAGGCCAAGCCTGCTGAGCTAGTGAGAGACACAGCCAGCTGCCCCGAGAGTTTTGTCCAGAGAGCTGCCCTGCATCTGAGATGAGCTGGTGTCTGGCCCGGCTCAGGGTAAGGGTCTAATATTGCAAGGGCTGCCTGCTGGGCCAGAGCCCAGAGGTGCTGGGGGAGCGCTGGGCTCTTGCCAACAGGAGAGGGAAGGGTTCCCCACAGCTAGCTCAGAGTGCGGATCCCACAGAAGCTAGAGAAACGCCATTAGGCGTAAACCCAGGGAGAGTTTCCCAGAGCACGTGGGGTGAGGCTCACCTCTACAGTTAAAAGTGCCTCTGCTGTCTGCAAACCCCAGCCCTGGCTGGCACGCTGAGCATCCTGTCCCCAGCCACAGCCCTTAGGGTTCCCAATTGCGCAGGGAGGCTGTGACACAGACCACGGGAAGGCTTTGACTCTATTGAGAGCGGACGTGGGTCTAGCCAGGAGCA
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Task1_train_23160
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With a mutation on Chromosome 17 in gene BHLHA9 (basic helix-loop-helix family member a9), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Mesoaxial synostotic syndactyly with phalangeal reduction
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CAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAACCTGGGAAATACAGATGTCCTTAGGATGCTTTCATCCTAGTGGGCAAGGCAGACAATCACAGAAGTAAATACATACACTCTGCTTCCTAATGCCTTATTATTTTCTTTTATGGAGAAATTCACAGTTTGAAATAATGGGGTTATTGGCAATGCTCTTTTGGCGAGATGGATGTGAACCACACACCCATTCCAATGCCATAGGCCTTGGCATCTTAGAGGCATTTGGATTGTGACTGGGAATGAGTGGCCTTCAGGCGCTCCAAATAACTCAGCTGTGGATGCCGGAAATTCTACTGGGGGTCTTTCTTTGGGAATAAACATCATCTTTTTTCTGAGACCCTCTTTCAAATGCAAATCCCTGGGGGAAGAGGACAGAGGCTGCTCATTGAGTTCATAACCTGGCAGGGCTGTGTCACAAGATGGGGCTGCCCGAGGGCTCTGGACCCCAAAGATGCCCCTGATGTGGACCCAGGGCTGCAAAGGGATCTTCCCCGTCACCCTCTGCTGCTGACTCATCCCAGCTCTGCCTGCAGAAGGGGAGTCAAAGGGCAGTGGAGGGAGAGTCAGGCCCAACCAAAACCCGAACCCCAATTGCAGCCAGCCGCCCTCCATAGCTGAAAAAGCCGGAAGCTCTGGGTCAGCTTTACCTGCAGGGCCCTGCGCCTCCCATATGAGTCCTGCCGGGACACTCATGCTTTTCCTCAGTGACATCTCTGTGGTTGCCCACGGGACTTGACAAGAACTTTCAAGGTTTTGTTGTTGTTTTTGTTGTTGTTTTTCTGAGACGGAGTCTCGTTCTGTCTCCCAGGCTAGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCAGCTCCTGGGCTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGACGGGGTTTTATATACTCTGTTGGCCAGGCTGGTCTCGAACTCCTGAACTCAAGTGATCCGCCCGCCTCGGCCTCCCAAACTGCTGGGATGACAGGCGTGAGCCCCAGTGCCCGGCCCTCTGCCTCTTTTTATTCCTATCAGCTCTCCTGCTAGAAGCCAAACTTAGCACCTTATCTGGGAATGGGGAGGAAGAATGTGGAACCCAGACACCCCACAGCGGCCCCAGAGCTAGGCAGGGCAAGGTCCCCGGGGCAGCGTGGCCGGGCTGCCCGTCTGGTCCCCGCTTACAAGAACCTGCAAGCTTCCCTCCTTGCTTTCCTTCTTCCCCTCGGTTCCTCCCCCGCCGACCTACCTGGAGGCCGATAATAAAGCAGGAGGAGGGAGATGGATGGACGGGAGGGCGGGGCGCCGCGTGGTGCCATAAAGCCCAGCTGGAAGGGGCCTGTCTCGGGAGTGTCCAGCCCCAGGAGCCGGGGACCGTCCGCGTCGCGAGCCGGGCCAAGGCAGTGGGCAGAGGGCAGAGGGCAGAGGGCCGGGGCTGGGGCAGAGGGCGAGTGCCCGGGAAGGCCATGCTGCGGGGCGCGCCAGGACTAGGCCTCACGGCGCGGAAGGGGGCCGAGGACTCTGCGGAGGACTTGGGGGGCCCCTGCCCCGAGCCCGGGGGCGATTCGGGGGTGCTGGGGGCGAACGGCGCTTCCTGCAGCCGGGGCGAGGCGGAGGAGCCGGCGGGCAGGAGGCGCGCGCGGCCGGTGCGGTCCAAGGCGCGGCGCATGGCCGCCAACGTGCGGGAGCGCAAGCGCATCCTAGACTACAACGAGGCCTTCAACGCGCTGCGCCGGGCGCTGCGGCACGACCTGGGCGGCAAGAGGCTCTCCAAGATCGCCACGCTGCGCAGGGCCATCCACCGCATCGCCGCGCTCTCCCTGGTCCTGCGCGCCAGCCCCGCGCCCCGCGGGCCCTGCGGACACCTGGAGTGCCACGGCCCGGCCGCGCGCGGGGACACCGGGGACACAGGCGCCAGCCCCCCGCCGCCTGCAGGGCCCAGCCTCGCGCGCCCAGACGCCGCCCGCCCCTCGGTGCCGTCCGCGCCCCGCTGCGCCTCGTGCCCCCCGCACGCGCCCCTGGCACGGCCCAGTGCGGTGGCCGAGGGGCCGGGCCTAGCACAGGCCTCCGGGGGAAGCTGGCGCCGCTGTCCGGGGGCTTCCTCTGCCGGGCCGCCTCCCTGGCCGCGGGGCTACCTGCGATCCGCCCCCGGGATGGGCCATCCGCGCTCCTGACCGGCCTCGAGGCACCGGCTGGGCTGCAGGGAGGCCGGGCTGGCAGCTGGACTATAAAACCCGGGACTGCAAAGGCGTCTTGGACAGAGCAGAACTGGACCGGCTGAGACCTGGCGTGGAAGAGAAGGAGCTCGCCAGAGAGAAGGAGCTCCGGGACCCGGGGTTGCGCCCCCACATCCCAGCCTGGGGCAGAGAGAAGGAGCTCCGGGGCCTGGGGCTGCGCCCCCACATCCCAGCCTAGGGAGGCAGTTGCCAGAAAGGCTCAGGATCCTGAACTCATCTTGGACTCGAACTCGTCTTGGAATGCCGCCTTCGCACTCCTGCGCCTCCGAGCCCTGTGTGTTCTCGATGCTTTTAGGAGAGTGAGGGCTTTGAGGCAGGAGGTGTGGGAGCGTGGGAATGCGGGTGGGGCCTGCTGTGGTCTCGTGGGCACATGAGTGCGGAGTCCCCTTCCCTGCCTGCGCTGCTGCCCAAGCCTGATCCGGGAGAGGCAGGATCCGGGAGAGGCAGGCAGGGGCAGCAGCCAAATAAAAGGAAAAACTCATTTCTCTCCGATACCACGACTCCAGTGGGCCCCGTGGCCCAGGGTGGCAGGAACGCCTGAGGGCTGGGGGCTCTCCTTGGAATGCTGGGCGGGGCCTAAGGCCCACAGGTAGGCGCCTGGGGGAACTCATTCATGGCAAGACCCCAGGTGTGGCTGAGCACTGTGGGAGCCCAAGGGGAGGAAAGAGACATCCAGAGACCCCTCCTCCCTGAGTCCCCTGGGGTGGAAGAGGATATCAGGAGAGGGGTCACGGGGCCTGGGAGTCTAAGGATGGGGTCAGCCCCGTCTCTGGACCTCCCTGCAGAGCTGCCTGGAAGCAGCCACAGTGAAGGGGGACTCTGGCCAGGTCTCAGGGAAGGAGGCCAAGGGCAGGGCTAGGATTGGGGGCCGGTAAGTCCTGCGTGCATGTACCCCGAGCGACAGGCAGGAAGAGCTCCCAGGGAACCGTGGGCCAGGGCCCCCATAATGAGGGGCCGACTTGGAACCCAGGAAGGATTCTGGGGAGGGGGTTGAGTGAGGGCAGAGGGGCCTCAGGCCAAGCCTGCTGAGCTAGTGAGAGACACAGCCAGCTGCCCCGAGAGTTTTGTCCAGAGAGCTGCCCTGCATCTGAGATGAGCTGGTGTCTGGCCCGGCTCAGGGTAAGGGTCTAATATTGCAAGGGCTGCCTGCTGGGCCAGAGCCCAGAGGTGCTGGGGGAGCGCTGGGCTCTTGCCAACAGGAGAGGGAAGGGTTCCCCACAGCTAGCTCAGAGTGCGGATCCCACAGAAGCTAGAGAAACGCCATTAGGCGTAAACCCAGGGAGAGTTTCCCAGAGCACGTGGGGTGAGGCTCACCTCTACAGTTAAAAGTGCCTCTGCTGTCTGCAAACCCCAGCCCTGGCTGGCACGCTGAGCATCCTGTCCCCAGCCACAGCCCTTAGGGTTCCCAATTGCGCAGGGAGGCTGTGACACAGACCACGGGAAGGCTTTGACTCTATTGAGAGCGGACGTGGGTCTAGCCAGGAGCAGCAACGCAGGAGA
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CAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAACCTGGGAAATACAGATGTCCTTAGGATGCTTTCATCCTAGTGGGCAAGGCAGACAATCACAGAAGTAAATACATACACTCTGCTTCCTAATGCCTTATTATTTTCTTTTATGGAGAAATTCACAGTTTGAAATAATGGGGTTATTGGCAATGCTCTTTTGGCGAGATGGATGTGAACCACACACCCATTCCAATGCCATAGGCCTTGGCATCTTAGAGGCATTTGGATTGTGACTGGGAATGAGTGGCCTTCAGGCGCTCCAAATAACTCAGCTGTGGATGCCGGAAATTCTACTGGGGGTCTTTCTTTGGGAATAAACATCATCTTTTTTCTGAGACCCTCTTTCAAATGCAAATCCCTGGGGGAAGAGGACAGAGGCTGCTCATTGAGTTCATAACCTGGCAGGGCTGTGTCACAAGATGGGGCTGCCCGAGGGCTCTGGACCCCAAAGATGCCCCTGATGTGGACCCAGGGCTGCAAAGGGATCTTCCCCGTCACCCTCTGCTGCTGACTCATCCCAGCTCTGCCTGCAGAAGGGGAGTCAAAGGGCAGTGGAGGGAGAGTCAGGCCCAACCAAAACCCGAACCCCAATTGCAGCCAGCCGCCCTCCATAGCTGAAAAAGCCGGAAGCTCTGGGTCAGCTTTACCTGCAGGGCCCTGCGCCTCCCATATGAGTCCTGCCGGGACACTCATGCTTTTCCTCAGTGACATCTCTGTGGTTGCCCACGGGACTTGACAAGAACTTTCAAGGTTTTGTTGTTGTTTTTGTTGTTGTTTTTCTGAGACGGAGTCTCGTTCTGTCTCCCAGGCTAGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCAGCTCCTGGGCTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGACGGGGTTTTATATACTCTGTTGGCCAGGCTGGTCTCGAACTCCTGAACTCAAGTGATCCGCCCGCCTCGGCCTCCCAAACTGCTGGGATGACAGGCGTGAGCCCCAGTGCCCGGCCCTCTGCCTCTTTTTATTCCTATCAGCTCTCCTGCTAGAAGCCAAACTTAGCACCTTATCTGGGAATGGGGAGGAAGAATGTGGAACCCAGACACCCCACAGCGGCCCCAGAGCTAGGCAGGGCAAGGTCCCCGGGGCAGCGTGGCCGGGCTGCCCGTCTGGTCCCCGCTTACAAGAACCTGCAAGCTTCCCTCCTTGCTTTCCTTCTTCCCCTCGGTTCCTCCCCCGCCGACCTACCTGGAGGCCGATAATAAAGCAGGAGGAGGGAGATGGATGGACGGGAGGGCGGGGCGCCGCGTGGTGCCATAAAGCCCAGCTGGAAGGGGCCTGTCTCGGGAGTGTCCAGCCCCAGGAGCCGGGGACCGTCCGCGTCGCGAGCCGGGCCAAGGCAGTGGGCAGAGGGCAGAGGGCAGAGGGCCGGGGCTGGGGCAGAGGGCGAGTGCCCGGGAAGGCCATGCTGCGGGGCGCGCCAGGACTAGGCCTCACGGCGCGGAAGGGGGCCGAGGACTCTGCGGAGGACTTGGGGGGCCCCTGCCCCGAGCCCGGGGGCGATTCGGGGGTGCTGGGGGCGAACGGCGCTTCCTGCAGCCGGGGCGAGGCGGAGGAGCCGGCGGGCAGGAGGCGCGCGCGGCCGGTGCGGTCCAAGGCGCGGCGCATGGCCGCCAACGTGCGGGAGCTCAAGCGCATCCTAGACTACAACGAGGCCTTCAACGCGCTGCGCCGGGCGCTGCGGCACGACCTGGGCGGCAAGAGGCTCTCCAAGATCGCCACGCTGCGCAGGGCCATCCACCGCATCGCCGCGCTCTCCCTGGTCCTGCGCGCCAGCCCCGCGCCCCGCGGGCCCTGCGGACACCTGGAGTGCCACGGCCCGGCCGCGCGCGGGGACACCGGGGACACAGGCGCCAGCCCCCCGCCGCCTGCAGGGCCCAGCCTCGCGCGCCCAGACGCCGCCCGCCCCTCGGTGCCGTCCGCGCCCCGCTGCGCCTCGTGCCCCCCGCACGCGCCCCTGGCACGGCCCAGTGCGGTGGCCGAGGGGCCGGGCCTAGCACAGGCCTCCGGGGGAAGCTGGCGCCGCTGTCCGGGGGCTTCCTCTGCCGGGCCGCCTCCCTGGCCGCGGGGCTACCTGCGATCCGCCCCCGGGATGGGCCATCCGCGCTCCTGACCGGCCTCGAGGCACCGGCTGGGCTGCAGGGAGGCCGGGCTGGCAGCTGGACTATAAAACCCGGGACTGCAAAGGCGTCTTGGACAGAGCAGAACTGGACCGGCTGAGACCTGGCGTGGAAGAGAAGGAGCTCGCCAGAGAGAAGGAGCTCCGGGACCCGGGGTTGCGCCCCCACATCCCAGCCTGGGGCAGAGAGAAGGAGCTCCGGGGCCTGGGGCTGCGCCCCCACATCCCAGCCTAGGGAGGCAGTTGCCAGAAAGGCTCAGGATCCTGAACTCATCTTGGACTCGAACTCGTCTTGGAATGCCGCCTTCGCACTCCTGCGCCTCCGAGCCCTGTGTGTTCTCGATGCTTTTAGGAGAGTGAGGGCTTTGAGGCAGGAGGTGTGGGAGCGTGGGAATGCGGGTGGGGCCTGCTGTGGTCTCGTGGGCACATGAGTGCGGAGTCCCCTTCCCTGCCTGCGCTGCTGCCCAAGCCTGATCCGGGAGAGGCAGGATCCGGGAGAGGCAGGCAGGGGCAGCAGCCAAATAAAAGGAAAAACTCATTTCTCTCCGATACCACGACTCCAGTGGGCCCCGTGGCCCAGGGTGGCAGGAACGCCTGAGGGCTGGGGGCTCTCCTTGGAATGCTGGGCGGGGCCTAAGGCCCACAGGTAGGCGCCTGGGGGAACTCATTCATGGCAAGACCCCAGGTGTGGCTGAGCACTGTGGGAGCCCAAGGGGAGGAAAGAGACATCCAGAGACCCCTCCTCCCTGAGTCCCCTGGGGTGGAAGAGGATATCAGGAGAGGGGTCACGGGGCCTGGGAGTCTAAGGATGGGGTCAGCCCCGTCTCTGGACCTCCCTGCAGAGCTGCCTGGAAGCAGCCACAGTGAAGGGGGACTCTGGCCAGGTCTCAGGGAAGGAGGCCAAGGGCAGGGCTAGGATTGGGGGCCGGTAAGTCCTGCGTGCATGTACCCCGAGCGACAGGCAGGAAGAGCTCCCAGGGAACCGTGGGCCAGGGCCCCCATAATGAGGGGCCGACTTGGAACCCAGGAAGGATTCTGGGGAGGGGGTTGAGTGAGGGCAGAGGGGCCTCAGGCCAAGCCTGCTGAGCTAGTGAGAGACACAGCCAGCTGCCCCGAGAGTTTTGTCCAGAGAGCTGCCCTGCATCTGAGATGAGCTGGTGTCTGGCCCGGCTCAGGGTAAGGGTCTAATATTGCAAGGGCTGCCTGCTGGGCCAGAGCCCAGAGGTGCTGGGGGAGCGCTGGGCTCTTGCCAACAGGAGAGGGAAGGGTTCCCCACAGCTAGCTCAGAGTGCGGATCCCACAGAAGCTAGAGAAACGCCATTAGGCGTAAACCCAGGGAGAGTTTCCCAGAGCACGTGGGGTGAGGCTCACCTCTACAGTTAAAAGTGCCTCTGCTGTCTGCAAACCCCAGCCCTGGCTGGCACGCTGAGCATCCTGTCCCCAGCCACAGCCCTTAGGGTTCCCAATTGCGCAGGGAGGCTGTGACACAGACCACGGGAAGGCTTTGACTCTATTGAGAGCGGACGTGGGTCTAGCCAGGAGCAGCAACGCAGGAGA
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Task1_train_23161
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Located on Chromosome 17, this mutation impacts INPP5K (inositol polyphosphate-5-phosphatase K). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability
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CACTGCAGCGGCCCCTCATGTACCGGCTGGCTCCCAGGCCTGGGCCTCAGGGAGCCAGTGATGAGCTCAAGCCCTCACCCTTCCCCTTCCCTCACCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGCTGAGGCAGGCCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCTAAGGCAAGTCCTAAGGAAGAGATGGTCTCCCTGCTGGGCCTGGCTACCGTACTGTGTGCCTCCCCGCCGCCCTTCACTGCCAGCCTTTAGCTACAGAAGAACCGCTGGGGTGGATGAGGGTGAGTTCGTCAGCATCTGCCCAGCTCCCAGGAGCCCTCGGGAAGGATGAACCAGGGGCTGTCGCTGATGGACTTCCTGCCTTGCCACCACATCACCTTGTACAGTCCAATCCAGTCCCACGGGCTGCTGGGGAAGTCCGAGGTTGAAGAGTAGCTGACCATCATGTCATTTTCCACGGTCCACAGGTCCTCGGGCATCAGGACGATCAGCGGAGCAGACACCAATGGCTTCAGCTAGACACGGGGGTGGGAAGGGGGCTGAATCTCGCAGCATCATTCCCTCCTCTGAGGCCAAGTGTTCCTCACTGTGCCCTTCCAACATAGTGGGGAAGGTGGGGCACCCAGAGGGGGTGGGCATGGAACTCCACTGGGCTGCTCCAACGGACCTTGGCTGGCCATCAGGAAAGAGGGCCGAACACCAGTCGGCGGGTGGCTGGCCCTGTCGGAATCCCATGGGGCCCAGCGCTGGGGGGTAGGAATGGCGGAGAGCAGAGGCACGGCTGAGAGGCTTAAGGAGGCGGCCAGGCAGCTGCTCTCAGGCCTCCCGCCTTATCTGACCCAAAGCCCCACATGGGGGGATGCTCTGGTGAGAACAGCTGTGAACGTGCAAGAACACAACGCAGATACCAGCGGGGGCCAGGCACGGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATAGTGAAACCCTGTGTCTACAAAAAATACATAACAGCCAGGCGTGGTGGCGTGCACCTGTAGTCCCGCTACTAGGGAGGCTGAGGTGGAAGGATCAATCACTTGAGCCCAGGAGGTGGAGGCTTCAGTGAGCTATGATACCGCCACTGCACTCCAGCCTGGGCGGCAGAACGAGACCCTAACACACACACACACACGCCAGTAAACCTGTATGAAAACGTGAAGGCTGAGGGGCAGCAGCCTGAAGGAGGCCAACACCACCTTGGTCATTCAGATAGCAAGATACAAGGACGCAGGGATGGAGGGAGCGCCCGTTGCAACTTGATCCAGATAGATTTAGGACAAATAAAAGAAGTCCTACTTCTCACATTGGGTAATAAGCCTAATGGAACTCATTAGCCCCAAGGGAGAATACCCAAAGGAAATGGAAACCTTTTCACAAAGGGTTTGAACACGGTTTTGACAGACAGAGCCATCAACGGCTCCTAAGAGGAGCTGGGATATCCGACCTGGCAGGAAAGGCAATCATGGCCTCCACAGGTCTCCCCTGGGGGACTGGCTGACATTCGAATCCAGGGATGGAGGGCTTGGGGATGTGGCCAGCATAGCTATTCCTCTGGCAAGTATCAGGCAGCCCAGAAGTTCACCTCCAAGTCGAACGTGCCGGAGACAGGCTTGTGGTCGCTGATGCCGTACGTCATGTGGCTGCTGTAGCCCCTCAGAGACAAGGAGAAGTGTGACGCCGGCGGTATGGGAGTGTCGGGGCCAGCACAGGGCTGCCGCTTCAGCCTCCACAGGATGCGATCGGTCCATGCAGGCTTGCGTTTTTTCTCACTGCAGGGGCAGGGGGCATAAAGAGGAAGAATGGGGAAAGAAGAAAGGGTTGGCTAAGAGCAGAAATGAGCCCACATGAGCTTGCTGGAGCCCCTAACTCCAGCAACTACTGGCAGCCACAGACCCCCGGGGCCAGAGCCGGAGGGAGCAAGGCAGCAGGCAGGAAGGTGCCTAACAGAATCCAAAGTATGCCAGCACTTGTCAGACTTAGCCAGGACCCTCTGTATGTCTAGCTCATGTTTTTATGGATCAAATTGTGACTCAGAAACATTCCATTTCAAAGCTTTGCTTCTTTCTTGAGCAAAAGCAGCAGTGGATCAAAGCAGCTGAGGTTTGAGATTCTGAGGCTGGACACACCTGAGCTTGTATTTGGCTGCCCTGCATACTAGAAGTATGCCTCAGGAAAGGGAAGGGAAGCATTTAGGAAATGCTTACCAGAGGATGCCTGTGATCAGTACTGTTACCACACCTTTTTTTAAATTTAATTTTATTTTTTTAAAGAGACAGGGTCTTGCTCTGTCATGCAGGCTGGAGTGCAGTGGTGACATCACAGCTTACTGTAGCCTCAAACTACTGGGCTCAGGCGATCCCACCTCAGCCTCCTGAGTGGCTGGGACGGTAAGTGCGTGGCACTATGCCTGGCTAATTTTTAAACATTTTTTTGTAAAGACAGTATGTTTCCCAGCCTAGTTTTGAACTGCTGGCCTCAAAGGATCTTCCCATCTCAGCTTCCCAAAGTGTTGGGATTAGAAGGCATGGACCACTGTGCCTGGGTGTATCATGCTCTCTTTACAGGTGGAGAAACTGAGACTTAGCTTAGAGGGGAAGCACCTTTCCCAAAGTCACAAGGTACTAAGTGGTGGAGCCAGGATTCAGGGCCAGCCAGCATGACCACAGAGCATGTGCTCTTAACCACCAAACTAAACTAACCTCTCTCAGGCCTCAACTTCCTCGCCTGCCAGTGGAGGGAATAACAGTAGTTACCATGAAGGGTTGCTAGGATGAGTCAATGAGATAAAGTACATAAAATGTTTAGCACAGTGCTTGGTGCAAAACGAGCTCGCCATGCACACTGGCCTTTATGATTTCCTCTCAAGAGTCGACTGAGAGGCCGCGCGCGGTGCTCACGCCTGTAATCCAAGCACTTTGGGAGGCCAGGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGACTCTCTACTAAAAGTACAAACATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGATAATTGCTTGAAGCTGGCAGGCGGAGGTTGCAGTGAGCTGAGATCATACCACGGCACTCTAGCCTGGGCGACAGAGCAAGACTCTATCTCCAAAAAAAAAGGAGTCGACTGAGAGACCTCCCACCTGTTCTTCACTTGCCAGTTTCCCTGAGGGGTTTGGAAAAGGTAATACGCTCCGGAGACAAAATGCATTCCTCCTCTAGGTAACTGAAGTTGACCAAAGACGAGTCTCTGACCCATAACCCAGCCTTCCGAAGCAACTACTGTGGCAGTTTCTAAGGCCACCTTGTCCTTGAGGCCCTGCCCTCCTGGAGACCAGCAGCTCTGACTCCTGGAGGTGGGGTGTGTGTGTGGCGGGGGAGCAGGACAGCTGCGGTTTCTGGGTTCCACCCCCTTCATGGACAATCTCCTTTCTTGAATCAACCCAGAGTAATAAAGCCTAATTGGATCAATCAATCAATCAATCTATAGACAGGGTCTCACACACTCTATCTCATCTATTGATCGATCGACAGGTCTCACTGTGTTGAATCCTATCTACCTACCTATTGATTGATCAATCCATCGACAGGGTCTTGCTGTGTTGCCCAGGCTGAGTGCGGTGGCACAATCCTAACTCACTGCAGCTTCAAATGCCTGGGCTTC
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CACTGCAGCGGCCCCTCATGTACCGGCTGGCTCCCAGGCCTGGGCCTCAGGGAGCCAGTGATGAGCTCAAGCCCTCACCCTTCCCCTTCCCTCACCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGCTGAGGCAGGCCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCTAAGGCAAGTCCTAAGGAAGAGATGGTCTCCCTGCTGGGCCTGGCTACCGTACTGTGTGCCTCCCCGCCGCCCTTCACTGCCAGCCTTTAGCTACAGAAGAACCGCTGGGGTGGATGAGGGTGAGTTCGTCAGCATCTGCCCAGCTCCCAGGAGCCCTCGGGAAGGATGAACCAGGGGCTGTCGCTGATGGACTTCCTGCCTTGCCACCACATCACCTTGTACAGTCCAATCCAGTCCCACGGGCTGCTGGGGAAGTCCGAGGTTGAAGAGTAGCTGACCATCATGTCATTTTCCACGGTCCACAGGTCCTCGGGCATCAGGACGATCAGCGGAGCAGACACCAATGGCTTCAGCTAGACACGGGGGTGGGAAGGGGGCTGAATCTCGCAGCATCATTCCCTCCTCTGAGGCCAAGTGTTCCTCACTGTGCCCTTCCAACATAGTGGGGAAGGTGGGGCACCCAGAGGGGGTGGGCATGGAACTCCACTGGGCTGCTCCAACGGACCTTGGCTGGCCATCAGGAAAGAGGGCCGAACACCAGTCGGCGGGTGGCTGGCCCTGTCGGAATCCCATGGGGCCCAGCGCTGGGGGGTAGGAATGGCGGAGAGCAGAGGCACGGCTGAGAGGCTTAAGGAGGCGGCCAGGCAGCTGCTCTCAGGCCTCCCGCCTTATCTGACCCAAAGCCCCACATGGGGGGATGCTCTGGTGAGAACAGCTGTGAACGTGCAAGAACACAACGCAGATACCAGCGGGGGCCAGGCACGGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATAGTGAAACCCTGTGTCTACAAAAAATACATAACAGCCAGGCGTGGTGGCGTGCACCTGTAGTCCCGCTACTAGGGAGGCTGAGGTGGAAGGATCAATCACTTGAGCCCAGGAGGTGGAGGCTTCAGTGAGCTATGATACCGCCACTGCACTCCAGCCTGGGCGGCAGAACGAGACCCTAACACACACACACACACGCCAGTAAACCTGTATGAAAACGTGAAGGCTGAGGGGCAGCAGCCTGAAGGAGGCCAACACCACCTTGGTCATTCAGATAGCAAGATACAAGGACGCAGGGATGGAGGGAGCGCCCGTTGCAACTTGATCCAGATAGATTTAGGACAAATAAAAGAAGTCCTACTTCTCACATTGGGTAATAAGCCTAATGGAACTCATTAGCCCCAAGGGAGAATACCCAAAGGAAATGGAAACCTTTTCACAAAGGGTTTGAACACGGTTTTGACAGACAGAGCCATCAACGGCTCCTAAGAGGAGCTGGGATATCCGACCTGGCAGGAAAGGCAATCATGGCCTCCACAGGTCTCCCCTGGGGGACTGGCTGACATTCGAATCCAGGGATGGAGGGCTTGGGGATGTGGCCAGCATAGCTATTCCTCTGGCAAGTATCAGGCAGCCCAGAAGTTCACCTCCAAGTCGAACGTGCCGGAGACAGGCTTGTGGTCGCTGATGCCGTACGTCATGTGGCTGCTGCAGCCCCTCAGAGACAAGGAGAAGTGTGACGCCGGCGGTATGGGAGTGTCGGGGCCAGCACAGGGCTGCCGCTTCAGCCTCCACAGGATGCGATCGGTCCATGCAGGCTTGCGTTTTTTCTCACTGCAGGGGCAGGGGGCATAAAGAGGAAGAATGGGGAAAGAAGAAAGGGTTGGCTAAGAGCAGAAATGAGCCCACATGAGCTTGCTGGAGCCCCTAACTCCAGCAACTACTGGCAGCCACAGACCCCCGGGGCCAGAGCCGGAGGGAGCAAGGCAGCAGGCAGGAAGGTGCCTAACAGAATCCAAAGTATGCCAGCACTTGTCAGACTTAGCCAGGACCCTCTGTATGTCTAGCTCATGTTTTTATGGATCAAATTGTGACTCAGAAACATTCCATTTCAAAGCTTTGCTTCTTTCTTGAGCAAAAGCAGCAGTGGATCAAAGCAGCTGAGGTTTGAGATTCTGAGGCTGGACACACCTGAGCTTGTATTTGGCTGCCCTGCATACTAGAAGTATGCCTCAGGAAAGGGAAGGGAAGCATTTAGGAAATGCTTACCAGAGGATGCCTGTGATCAGTACTGTTACCACACCTTTTTTTAAATTTAATTTTATTTTTTTAAAGAGACAGGGTCTTGCTCTGTCATGCAGGCTGGAGTGCAGTGGTGACATCACAGCTTACTGTAGCCTCAAACTACTGGGCTCAGGCGATCCCACCTCAGCCTCCTGAGTGGCTGGGACGGTAAGTGCGTGGCACTATGCCTGGCTAATTTTTAAACATTTTTTTGTAAAGACAGTATGTTTCCCAGCCTAGTTTTGAACTGCTGGCCTCAAAGGATCTTCCCATCTCAGCTTCCCAAAGTGTTGGGATTAGAAGGCATGGACCACTGTGCCTGGGTGTATCATGCTCTCTTTACAGGTGGAGAAACTGAGACTTAGCTTAGAGGGGAAGCACCTTTCCCAAAGTCACAAGGTACTAAGTGGTGGAGCCAGGATTCAGGGCCAGCCAGCATGACCACAGAGCATGTGCTCTTAACCACCAAACTAAACTAACCTCTCTCAGGCCTCAACTTCCTCGCCTGCCAGTGGAGGGAATAACAGTAGTTACCATGAAGGGTTGCTAGGATGAGTCAATGAGATAAAGTACATAAAATGTTTAGCACAGTGCTTGGTGCAAAACGAGCTCGCCATGCACACTGGCCTTTATGATTTCCTCTCAAGAGTCGACTGAGAGGCCGCGCGCGGTGCTCACGCCTGTAATCCAAGCACTTTGGGAGGCCAGGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGACTCTCTACTAAAAGTACAAACATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGATAATTGCTTGAAGCTGGCAGGCGGAGGTTGCAGTGAGCTGAGATCATACCACGGCACTCTAGCCTGGGCGACAGAGCAAGACTCTATCTCCAAAAAAAAAGGAGTCGACTGAGAGACCTCCCACCTGTTCTTCACTTGCCAGTTTCCCTGAGGGGTTTGGAAAAGGTAATACGCTCCGGAGACAAAATGCATTCCTCCTCTAGGTAACTGAAGTTGACCAAAGACGAGTCTCTGACCCATAACCCAGCCTTCCGAAGCAACTACTGTGGCAGTTTCTAAGGCCACCTTGTCCTTGAGGCCCTGCCCTCCTGGAGACCAGCAGCTCTGACTCCTGGAGGTGGGGTGTGTGTGTGGCGGGGGAGCAGGACAGCTGCGGTTTCTGGGTTCCACCCCCTTCATGGACAATCTCCTTTCTTGAATCAACCCAGAGTAATAAAGCCTAATTGGATCAATCAATCAATCAATCTATAGACAGGGTCTCACACACTCTATCTCATCTATTGATCGATCGACAGGTCTCACTGTGTTGAATCCTATCTACCTACCTATTGATTGATCAATCCATCGACAGGGTCTTGCTGTGTTGCCCAGGCTGAGTGCGGTGGCACAATCCTAACTCACTGCAGCTTCAAATGCCTGGGCTTC
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Task1_train_23162
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Assess the clinical impact of this variant on gene INPP5K (inositol polyphosphate-5-phosphatase K), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability
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CCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGCTGAGGCAGGCCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCTAAGGCAAGTCCTAAGGAAGAGATGGTCTCCCTGCTGGGCCTGGCTACCGTACTGTGTGCCTCCCCGCCGCCCTTCACTGCCAGCCTTTAGCTACAGAAGAACCGCTGGGGTGGATGAGGGTGAGTTCGTCAGCATCTGCCCAGCTCCCAGGAGCCCTCGGGAAGGATGAACCAGGGGCTGTCGCTGATGGACTTCCTGCCTTGCCACCACATCACCTTGTACAGTCCAATCCAGTCCCACGGGCTGCTGGGGAAGTCCGAGGTTGAAGAGTAGCTGACCATCATGTCATTTTCCACGGTCCACAGGTCCTCGGGCATCAGGACGATCAGCGGAGCAGACACCAATGGCTTCAGCTAGACACGGGGGTGGGAAGGGGGCTGAATCTCGCAGCATCATTCCCTCCTCTGAGGCCAAGTGTTCCTCACTGTGCCCTTCCAACATAGTGGGGAAGGTGGGGCACCCAGAGGGGGTGGGCATGGAACTCCACTGGGCTGCTCCAACGGACCTTGGCTGGCCATCAGGAAAGAGGGCCGAACACCAGTCGGCGGGTGGCTGGCCCTGTCGGAATCCCATGGGGCCCAGCGCTGGGGGGTAGGAATGGCGGAGAGCAGAGGCACGGCTGAGAGGCTTAAGGAGGCGGCCAGGCAGCTGCTCTCAGGCCTCCCGCCTTATCTGACCCAAAGCCCCACATGGGGGGATGCTCTGGTGAGAACAGCTGTGAACGTGCAAGAACACAACGCAGATACCAGCGGGGGCCAGGCACGGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATAGTGAAACCCTGTGTCTACAAAAAATACATAACAGCCAGGCGTGGTGGCGTGCACCTGTAGTCCCGCTACTAGGGAGGCTGAGGTGGAAGGATCAATCACTTGAGCCCAGGAGGTGGAGGCTTCAGTGAGCTATGATACCGCCACTGCACTCCAGCCTGGGCGGCAGAACGAGACCCTAACACACACACACACACGCCAGTAAACCTGTATGAAAACGTGAAGGCTGAGGGGCAGCAGCCTGAAGGAGGCCAACACCACCTTGGTCATTCAGATAGCAAGATACAAGGACGCAGGGATGGAGGGAGCGCCCGTTGCAACTTGATCCAGATAGATTTAGGACAAATAAAAGAAGTCCTACTTCTCACATTGGGTAATAAGCCTAATGGAACTCATTAGCCCCAAGGGAGAATACCCAAAGGAAATGGAAACCTTTTCACAAAGGGTTTGAACACGGTTTTGACAGACAGAGCCATCAACGGCTCCTAAGAGGAGCTGGGATATCCGACCTGGCAGGAAAGGCAATCATGGCCTCCACAGGTCTCCCCTGGGGGACTGGCTGACATTCGAATCCAGGGATGGAGGGCTTGGGGATGTGGCCAGCATAGCTATTCCTCTGGCAAGTATCAGGCAGCCCAGAAGTTCACCTCCAAGTCGAACGTGCCGGAGACAGGCTTGTGGTCGCTGATGCCGTACGTCATGTGGCTGCTGTAGCCCCTCAGAGACAAGGAGAAGTGTGACGCCGGCGGTATGGGAGTGTCGGGGCCAGCACAGGGCTGCCGCTTCAGCCTCCACAGGATGCGATCGGTCCATGCAGGCTTGCGTTTTTTCTCACTGCAGGGGCAGGGGGCATAAAGAGGAAGAATGGGGAAAGAAGAAAGGGTTGGCTAAGAGCAGAAATGAGCCCACATGAGCTTGCTGGAGCCCCTAACTCCAGCAACTACTGGCAGCCACAGACCCCCGGGGCCAGAGCCGGAGGGAGCAAGGCAGCAGGCAGGAAGGTGCCTAACAGAATCCAAAGTATGCCAGCACTTGTCAGACTTAGCCAGGACCCTCTGTATGTCTAGCTCATGTTTTTATGGATCAAATTGTGACTCAGAAACATTCCATTTCAAAGCTTTGCTTCTTTCTTGAGCAAAAGCAGCAGTGGATCAAAGCAGCTGAGGTTTGAGATTCTGAGGCTGGACACACCTGAGCTTGTATTTGGCTGCCCTGCATACTAGAAGTATGCCTCAGGAAAGGGAAGGGAAGCATTTAGGAAATGCTTACCAGAGGATGCCTGTGATCAGTACTGTTACCACACCTTTTTTTAAATTTAATTTTATTTTTTTAAAGAGACAGGGTCTTGCTCTGTCATGCAGGCTGGAGTGCAGTGGTGACATCACAGCTTACTGTAGCCTCAAACTACTGGGCTCAGGCGATCCCACCTCAGCCTCCTGAGTGGCTGGGACGGTAAGTGCGTGGCACTATGCCTGGCTAATTTTTAAACATTTTTTTGTAAAGACAGTATGTTTCCCAGCCTAGTTTTGAACTGCTGGCCTCAAAGGATCTTCCCATCTCAGCTTCCCAAAGTGTTGGGATTAGAAGGCATGGACCACTGTGCCTGGGTGTATCATGCTCTCTTTACAGGTGGAGAAACTGAGACTTAGCTTAGAGGGGAAGCACCTTTCCCAAAGTCACAAGGTACTAAGTGGTGGAGCCAGGATTCAGGGCCAGCCAGCATGACCACAGAGCATGTGCTCTTAACCACCAAACTAAACTAACCTCTCTCAGGCCTCAACTTCCTCGCCTGCCAGTGGAGGGAATAACAGTAGTTACCATGAAGGGTTGCTAGGATGAGTCAATGAGATAAAGTACATAAAATGTTTAGCACAGTGCTTGGTGCAAAACGAGCTCGCCATGCACACTGGCCTTTATGATTTCCTCTCAAGAGTCGACTGAGAGGCCGCGCGCGGTGCTCACGCCTGTAATCCAAGCACTTTGGGAGGCCAGGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGACTCTCTACTAAAAGTACAAACATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGATAATTGCTTGAAGCTGGCAGGCGGAGGTTGCAGTGAGCTGAGATCATACCACGGCACTCTAGCCTGGGCGACAGAGCAAGACTCTATCTCCAAAAAAAAAGGAGTCGACTGAGAGACCTCCCACCTGTTCTTCACTTGCCAGTTTCCCTGAGGGGTTTGGAAAAGGTAATACGCTCCGGAGACAAAATGCATTCCTCCTCTAGGTAACTGAAGTTGACCAAAGACGAGTCTCTGACCCATAACCCAGCCTTCCGAAGCAACTACTGTGGCAGTTTCTAAGGCCACCTTGTCCTTGAGGCCCTGCCCTCCTGGAGACCAGCAGCTCTGACTCCTGGAGGTGGGGTGTGTGTGTGGCGGGGGAGCAGGACAGCTGCGGTTTCTGGGTTCCACCCCCTTCATGGACAATCTCCTTTCTTGAATCAACCCAGAGTAATAAAGCCTAATTGGATCAATCAATCAATCAATCTATAGACAGGGTCTCACACACTCTATCTCATCTATTGATCGATCGACAGGTCTCACTGTGTTGAATCCTATCTACCTACCTATTGATTGATCAATCCATCGACAGGGTCTTGCTGTGTTGCCCAGGCTGAGTGCGGTGGCACAATCCTAACTCACTGCAGCTTCAAATGCCTGGGCTTCAAGCAACCCCCCACCTCCGCCTCCTGACCAGCTGGGACCACAGGCATGTGCCAGGGCACCCGGCTATTTTAGAACCTTTAAGGCATCTTCACTG
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CCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGCTGAGGCAGGCCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCTAAGGCAAGTCCTAAGGAAGAGATGGTCTCCCTGCTGGGCCTGGCTACCGTACTGTGTGCCTCCCCGCCGCCCTTCACTGCCAGCCTTTAGCTACAGAAGAACCGCTGGGGTGGATGAGGGTGAGTTCGTCAGCATCTGCCCAGCTCCCAGGAGCCCTCGGGAAGGATGAACCAGGGGCTGTCGCTGATGGACTTCCTGCCTTGCCACCACATCACCTTGTACAGTCCAATCCAGTCCCACGGGCTGCTGGGGAAGTCCGAGGTTGAAGAGTAGCTGACCATCATGTCATTTTCCACGGTCCACAGGTCCTCGGGCATCAGGACGATCAGCGGAGCAGACACCAATGGCTTCAGCTAGACACGGGGGTGGGAAGGGGGCTGAATCTCGCAGCATCATTCCCTCCTCTGAGGCCAAGTGTTCCTCACTGTGCCCTTCCAACATAGTGGGGAAGGTGGGGCACCCAGAGGGGGTGGGCATGGAACTCCACTGGGCTGCTCCAACGGACCTTGGCTGGCCATCAGGAAAGAGGGCCGAACACCAGTCGGCGGGTGGCTGGCCCTGTCGGAATCCCATGGGGCCCAGCGCTGGGGGGTAGGAATGGCGGAGAGCAGAGGCACGGCTGAGAGGCTTAAGGAGGCGGCCAGGCAGCTGCTCTCAGGCCTCCCGCCTTATCTGACCCAAAGCCCCACATGGGGGGATGCTCTGGTGAGAACAGCTGTGAACGTGCAAGAACACAACGCAGATACCAGCGGGGGCCAGGCACGGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATAGTGAAACCCTGTGTCTACAAAAAATACATAACAGCCAGGCGTGGTGGCGTGCACCTGTAGTCCCGCTACTAGGGAGGCTGAGGTGGAAGGATCAATCACTTGAGCCCAGGAGGTGGAGGCTTCAGTGAGCTATGATACCGCCACTGCACTCCAGCCTGGGCGGCAGAACGAGACCCTAACACACACACACACACGCCAGTAAACCTGTATGAAAACGTGAAGGCTGAGGGGCAGCAGCCTGAAGGAGGCCAACACCACCTTGGTCATTCAGATAGCAAGATACAAGGACGCAGGGATGGAGGGAGCGCCCGTTGCAACTTGATCCAGATAGATTTAGGACAAATAAAAGAAGTCCTACTTCTCACATTGGGTAATAAGCCTAATGGAACTCATTAGCCCCAAGGGAGAATACCCAAAGGAAATGGAAACCTTTTCACAAAGGGTTTGAACACGGTTTTGACAGACAGAGCCATCAACGGCTCCTAAGAGGAGCTGGGATATCCGACCTGGCAGGAAAGGCAATCATGGCCTCCACAGGTCTCCCCTGGGGGACTGGCTGACATTCGAATCCAGGGATGGAGGGCTTGGGGATGTGGCCAGCATAGCTATTCCTCTGGCAAGTATCAGGCAGCCCAGAAGTTCACCTCCAAGTCGAACGTGCCGGAGACAGGCTTGTGGTCGCTGATGCCGTACGTCATGTGGCTGCTGTAGCCCCTCAGAGACAAGGAGAAGTGTGACGCCGGCGGTATGGGAGTGTCGGGGCCAGCACAGGGCTGCCGCTTCAGCCTCCACAGGATGCGATTGGTCCATGCAGGCTTGCGTTTTTTCTCACTGCAGGGGCAGGGGGCATAAAGAGGAAGAATGGGGAAAGAAGAAAGGGTTGGCTAAGAGCAGAAATGAGCCCACATGAGCTTGCTGGAGCCCCTAACTCCAGCAACTACTGGCAGCCACAGACCCCCGGGGCCAGAGCCGGAGGGAGCAAGGCAGCAGGCAGGAAGGTGCCTAACAGAATCCAAAGTATGCCAGCACTTGTCAGACTTAGCCAGGACCCTCTGTATGTCTAGCTCATGTTTTTATGGATCAAATTGTGACTCAGAAACATTCCATTTCAAAGCTTTGCTTCTTTCTTGAGCAAAAGCAGCAGTGGATCAAAGCAGCTGAGGTTTGAGATTCTGAGGCTGGACACACCTGAGCTTGTATTTGGCTGCCCTGCATACTAGAAGTATGCCTCAGGAAAGGGAAGGGAAGCATTTAGGAAATGCTTACCAGAGGATGCCTGTGATCAGTACTGTTACCACACCTTTTTTTAAATTTAATTTTATTTTTTTAAAGAGACAGGGTCTTGCTCTGTCATGCAGGCTGGAGTGCAGTGGTGACATCACAGCTTACTGTAGCCTCAAACTACTGGGCTCAGGCGATCCCACCTCAGCCTCCTGAGTGGCTGGGACGGTAAGTGCGTGGCACTATGCCTGGCTAATTTTTAAACATTTTTTTGTAAAGACAGTATGTTTCCCAGCCTAGTTTTGAACTGCTGGCCTCAAAGGATCTTCCCATCTCAGCTTCCCAAAGTGTTGGGATTAGAAGGCATGGACCACTGTGCCTGGGTGTATCATGCTCTCTTTACAGGTGGAGAAACTGAGACTTAGCTTAGAGGGGAAGCACCTTTCCCAAAGTCACAAGGTACTAAGTGGTGGAGCCAGGATTCAGGGCCAGCCAGCATGACCACAGAGCATGTGCTCTTAACCACCAAACTAAACTAACCTCTCTCAGGCCTCAACTTCCTCGCCTGCCAGTGGAGGGAATAACAGTAGTTACCATGAAGGGTTGCTAGGATGAGTCAATGAGATAAAGTACATAAAATGTTTAGCACAGTGCTTGGTGCAAAACGAGCTCGCCATGCACACTGGCCTTTATGATTTCCTCTCAAGAGTCGACTGAGAGGCCGCGCGCGGTGCTCACGCCTGTAATCCAAGCACTTTGGGAGGCCAGGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGACTCTCTACTAAAAGTACAAACATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGATAATTGCTTGAAGCTGGCAGGCGGAGGTTGCAGTGAGCTGAGATCATACCACGGCACTCTAGCCTGGGCGACAGAGCAAGACTCTATCTCCAAAAAAAAAGGAGTCGACTGAGAGACCTCCCACCTGTTCTTCACTTGCCAGTTTCCCTGAGGGGTTTGGAAAAGGTAATACGCTCCGGAGACAAAATGCATTCCTCCTCTAGGTAACTGAAGTTGACCAAAGACGAGTCTCTGACCCATAACCCAGCCTTCCGAAGCAACTACTGTGGCAGTTTCTAAGGCCACCTTGTCCTTGAGGCCCTGCCCTCCTGGAGACCAGCAGCTCTGACTCCTGGAGGTGGGGTGTGTGTGTGGCGGGGGAGCAGGACAGCTGCGGTTTCTGGGTTCCACCCCCTTCATGGACAATCTCCTTTCTTGAATCAACCCAGAGTAATAAAGCCTAATTGGATCAATCAATCAATCAATCTATAGACAGGGTCTCACACACTCTATCTCATCTATTGATCGATCGACAGGTCTCACTGTGTTGAATCCTATCTACCTACCTATTGATTGATCAATCCATCGACAGGGTCTTGCTGTGTTGCCCAGGCTGAGTGCGGTGGCACAATCCTAACTCACTGCAGCTTCAAATGCCTGGGCTTCAAGCAACCCCCCACCTCCGCCTCCTGACCAGCTGGGACCACAGGCATGTGCCAGGGCACCCGGCTATTTTAGAACCTTTAAGGCATCTTCACTG
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Task1_train_23163
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This variant impacts the gene INPP5K (inositol polyphosphate-5-phosphatase K) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability
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GGTTTCTCCAAGTTGGTCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAGAGTGCTGGAATTACAGGCATAAGCCACCGTGCCCGGCCCCTATTCTTCTTTTTTAAATAATTCATTTCATGCTTTGTATCTGACTCTCTATTCTAAAGCACATCCAGGGTCTGTTACCCTGGCTTTTCCATGTGAAGATCAGGCGTGGCTGCCTCACCCCTGGATGCGAAGCCCTGCTAGACAGCCTCCCCCACCAGACCTGGGCAAAAGAAAACAGCAGCGAGGGCATCTAGCAACACTCTGCACAGCTCACATGGCCCCCACCGTGGGCTCAGATCACCCCCTGGGACCCTCCCCTCACTGGATACCTGGTCCTTCTCCCACAGGCCACCGTAGCACCGATTTTTAATGGATTCCCGAACAAAGTGCAACCCAAAGTCCTCGATCCGAAAGTTCATGTCTCCAAACCAGATAATGAGGCTTCAGAAAAAAAGGAGGGCAGCCTGAGGATTTGTGATGAAGTCGGGGAAGGGAGATCACCAGGTGGCTCAGCCTGCTCAACCCAAGGGCTGCTGGGGCACAGAAAACCTGAGGGGCAAGTGAGACGCCAGGGCACGCGTGGGTCCTCTGGAACTGTTCTCATGGCTCCTAAACCACCATTCAAACCGGAGAGACCTACCAAAGAGCCTGCTCTGGCAAACACAGAGCAGGCTGTGGCCCTTCCTTCCTCTCCTTAACTGGTCACGAGGAAAGGCTGAGAAGCCCTCCTGGTGACCTCAGGAGCCACAAGGTCCTTGACCTGTTCCCAAGTGTTCAGGGTTTCTAAGCAAGACAGACGGGCTGGAGGAAGGGGACCCCAGGCAGGCAAAGCAAGGGGAGACAGCAGATGGGCACCAGGGAAGGGTCAGGGAGAGGGTGGGAGCCAGAACACTGACGACACTGGCTGGGGGATCCGTGATGGAGCAGAGGATGCTGGCTTGGGTTAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAGCGGTCTGCAGACCCAGGCTCACTCGTGGGGGTTAGTGGGGGTTAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCCAGACCCAGGCTCACTCGTGGTCCAGGATGTTTGGGATGTCTCGCCCCTCACAATTCTGCATCTCCAGGATCCGGTCAAAGTGCTCCAGCCGCTGGTAATTGTTGGAAATGTGGGGAGGCAGGTGGCAGTTGATGATGCTGACATAGTAGCCATAAAGCTTCAGGCAGATGTTGACTCCACCTTTGTTCCCCTGGTAGAACAGGTCAACAGAAGAGTGGGAAGCTACTCGGGTTGGACACACCCCTCTTTCCACATCCTGGACCTGAGGGCAGACAGTCTCACTTCCTGCAGGGTCTCCTAGGGACAGTAACTAAGCTTCCCAGGGTGATCTCTCCATGCACAGAGCCCAGCTCGCCTCGCCTGGCCTCAGGGATAGCAAGCCCACTCTGAGGCAAAAGAACAAACATGCATTGGGCTGGACAGAGGACCAAGATTCCTTTCACTTCCTTTTTCTTTTGCCCAGCTCCACAGTTCCCAGCCCTTCCCAGCTCACGACTCAGACAATAGCTCAGTCCTTACCCAGTACCCAAACAGGCCAGTGGGGGTGGATTTAGTAGACAGAATCTGGATATAGGGCAAATGCTGATACTTGGCAAAGACCAGTAAGAGGATCCCCTGCATACGGACATGGGAGACCTGCAGGAGAGAGAGGGCAAAGGTCGCTCATTAAACCACACAGGCCAAGTGCATCCCTTCCAAGCTCCGTGCTAGGGACTCTAGAGAGCCCTCAGCTACATGCAGTGTCCTGCTCCAGGGTCTACGATATCCCAGTTTGAATCTCAGAGTTTCAAGCCTTTCCATTCTTCTTCTCAGCTGCCAAATGATACATTCTGGGGGCTGAGGTTTTCGATTCTGCGCCTAGGCGTGCGGGTGGCGGGAAGAGAAGATAAGCTAAGGATACTGGCTTTGAAGTTAGATCTGGGTTCAAACCCTGGCTCTGATTCTTAGTATTTGACATTGAGGCAGTTTCTCAGTGTATTTTCTCATTGATAAAGTAGGAATCCATCTCATAGATGCTGTGGGGATTATCTGAAAGCTATTATTTTTTGGTTTCAGCATTCTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGTGATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCAGGTCTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCTCGACCTCAGGTGATCTGCCTGCCTTGGCCTCTCAAAGTGCTGGGATTGTAGGCGTGAGCCACCGCGCCCGGCCAAGCATTCTTAAAAGGAAGGAACATAAGAGGTTTCCAGGATACTGGGAAATGCTCTTCTTTATCCCCTTCCCTTCCTCCCTCTCTCCTTGGAAATGTTCTTTATCCACCAGCTGCCCCCATTCCTCCCTTTTTACTTAGAGACAGGATTTCGCTCTGTCTACCAGGCTGGAGTGCAGTGGTGCAATCACGGCTCGCTGCAGCCTTGACATCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACCACAGGTGTGCACCAACATGCCCGGCTATTTTTGTTTGTTTTGTAGAGACAGGGTCTTGCCATATTGCCCAGGGTGGTCTTGAACTCCTGGGTTCAAGCAATCTCCCTGCCTCTATAATCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTACTCGGCCTGCTCTTTATCTAGATGTGGCTGATGGTAACATGGGTATATGCAAAAACCCATCAAAGTGTACACTGAATTTCTGCATGCTTTTCTGTGTACATTATAGCTCAGTGAAAAAAAAATAAGAAAATGCTCCCCCCAAACCCCATAACTATATACTGCGTGCAGCTGGGTGTCCATGAAGGCAACGCCCATGGAATGCCAGTGGGTAAGGACACATGTGCACAGGCTAGGGAGAATAGCTAACATCTGCTCAAGTGCCTCCTCTCTCATTTACTCCTGCCAAGCCTGTAAGGAATCACCGTCCCTGTTTTGTAGTTGAGGAACTAAGATTTAGGGAGGCTAAGGAACCAGTAGGGCTACCTGTATTGTAAAACAACATCAAAGGGCTAGGACTGCCAAGATCCCTACTATCTGCAGCTGCAAAAGGTGGGGTGGGAATGGGCCGCAGCCAGTAGCTCTCCCTCTCAGGTTCAGGCTGTCTACCACCGGCACCCGAGGAGCCGTTTCCGGAGAATGAAGTGTGGAGGCCAAGGAGGAAATCCCCGGGTGGGGAGCGTGTACTGGGGCCTTCCAGGAATTATGAAACTTGATCCTGCAGGCCACGAGCCCTGGCATAGCGGAGTCGAAGCAGGGGGAACCTCAAACCCAGCACTGGGTAAGGGAGGCATCAGAACTTCAGGTGGGCCAGAGGTTGCTACAGGTGTGTCCTCAAGCCTACTTCCTCCCCAGTCTTCTCTCTCCTACACCCAAGCACACGTGCCAACAGGGATGGAGGACGGGCTGGACCATGAGGGGCTGACTCCCAGGGTCAGGATTGAAGCAAGGGGACTGATAAAGACTCAGGAAAAGTTTCAGGCTTAATCCCCACCCACAAAGCAGCTTTAGGCCACTGGGTTCCACCACAAAGAC
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GGTTTCTCCAAGTTGGTCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAGAGTGCTGGAATTACAGGCATAAGCCACCGTGCCCGGCCCCTATTCTTCTTTTTTAAATAATTCATTTCATGCTTTGTATCTGACTCTCTATTCTAAAGCACATCCAGGGTCTGTTACCCTGGCTTTTCCATGTGAAGATCAGGCGTGGCTGCCTCACCCCTGGATGCGAAGCCCTGCTAGACAGCCTCCCCCACCAGACCTGGGCAAAAGAAAACAGCAGCGAGGGCATCTAGCAACACTCTGCACAGCTCACATGGCCCCCACCGTGGGCTCAGATCACCCCCTGGGACCCTCCCCTCACTGGATACCTGGTCCTTCTCCCACAGGCCACCGTAGCACCGATTTTTAATGGATTCCCGAACAAAGTGCAACCCAAAGTCCTCGATCCGAAAGTTCATGTCTCCAAACCAGATAATGAGGCTTCAGAAAAAAAGGAGGGCAGCCTGAGGATTTGTGATGAAGTCGGGGAAGGGAGATCACCAGGTGGCTCAGCCTGCTCAACCCAAGGGCTGCTGGGGCACAGAAAACCTGAGGGGCAAGTGAGACGCCAGGGCACGCGTGGGTCCTCTGGAACTGTTCTCATGGCTCCTAAACCACCATTCAAACCGGAGAGACCTACCAAAGAGCCTGCTCTGGCAAACACAGAGCAGGCTGTGGCCCTTCCTTCCTCTCCTTAACTGGTCACGAGGAAAGGCTGAGAAGCCCTCCTGGTGACCTCAGGAGCCACAAGGTCCTTGACCTGTTCCCAAGTGTTCAGGGTTTCTAAGCAAGACAGACGGGCTGGAGGAAGGGGACCCCAGGCAGGCAAAGCAAGGGGAGACAGCAGATGGGCACCAGGGAAGGGTCAGGGAGAGGGTGGGAGCCAGAACACTGACGACACTGGCTGGGGGATCCGTGATGGAGCAGAGGATGCTGGCTTGGGTTAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAGCGGTCTGCAGACCCAGGCTCACTCGTGGGGGTTAGTGGGGGTTAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCCAGACCCAGGCTCACTCGTGGTCCAGGATGTTTGGGATGTCTCGCCCCTCACAATTCTGCATCTCCAGGATCCGGTCAAAGTGCTCCAGCCGCTGGTAATTGTTGGAAATGTGGGGAGGCAGGTGGCAGTTGATGATGCTGACATAGTAGCCATAAAGCTTCAGGCAGATGTTGACTCCACCTTTGTTCCCCTGGTAGAACAGGTCAACAGAAGAGTGGGAAGCTACTCGGGTTGGACACACCCCTCTTTCCACATCCTGGACCTGAGGGCAGACAGTCTCACTTCCTGCAGGGTCTCCTAGGGACAGTAACTAAGCTTCCCAGGGTGATCTCTCCATGCACAGAGCCCAGCTCGCCTCGCCTGGCCTCAGGGATAGCAAGCCCACTCTGAGGCAAAAGAACAAACATGCATTGGGCTGGACAGAGGACCAAGATTCCTTTCACTTCCTTTTTCTTTTGCCCAGCTCCACAGTTCCCAGCCCTTCCCAGCTCACGACTCAGACAATAGCTCAGTCCTTACCCAGTACCCAAACAGGCCAGTGGGGGTGGATTTAGTAGACAGAATCTGGATATAGGGCAAATGCTGATACTTGGCAAAGACCAGTAAGAGGATCCCCTGCACACGGACATGGGAGACCTGCAGGAGAGAGAGGGCAAAGGTCGCTCATTAAACCACACAGGCCAAGTGCATCCCTTCCAAGCTCCGTGCTAGGGACTCTAGAGAGCCCTCAGCTACATGCAGTGTCCTGCTCCAGGGTCTACGATATCCCAGTTTGAATCTCAGAGTTTCAAGCCTTTCCATTCTTCTTCTCAGCTGCCAAATGATACATTCTGGGGGCTGAGGTTTTCGATTCTGCGCCTAGGCGTGCGGGTGGCGGGAAGAGAAGATAAGCTAAGGATACTGGCTTTGAAGTTAGATCTGGGTTCAAACCCTGGCTCTGATTCTTAGTATTTGACATTGAGGCAGTTTCTCAGTGTATTTTCTCATTGATAAAGTAGGAATCCATCTCATAGATGCTGTGGGGATTATCTGAAAGCTATTATTTTTTGGTTTCAGCATTCTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGTGATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCAGGTCTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCTCGACCTCAGGTGATCTGCCTGCCTTGGCCTCTCAAAGTGCTGGGATTGTAGGCGTGAGCCACCGCGCCCGGCCAAGCATTCTTAAAAGGAAGGAACATAAGAGGTTTCCAGGATACTGGGAAATGCTCTTCTTTATCCCCTTCCCTTCCTCCCTCTCTCCTTGGAAATGTTCTTTATCCACCAGCTGCCCCCATTCCTCCCTTTTTACTTAGAGACAGGATTTCGCTCTGTCTACCAGGCTGGAGTGCAGTGGTGCAATCACGGCTCGCTGCAGCCTTGACATCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACCACAGGTGTGCACCAACATGCCCGGCTATTTTTGTTTGTTTTGTAGAGACAGGGTCTTGCCATATTGCCCAGGGTGGTCTTGAACTCCTGGGTTCAAGCAATCTCCCTGCCTCTATAATCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTACTCGGCCTGCTCTTTATCTAGATGTGGCTGATGGTAACATGGGTATATGCAAAAACCCATCAAAGTGTACACTGAATTTCTGCATGCTTTTCTGTGTACATTATAGCTCAGTGAAAAAAAAATAAGAAAATGCTCCCCCCAAACCCCATAACTATATACTGCGTGCAGCTGGGTGTCCATGAAGGCAACGCCCATGGAATGCCAGTGGGTAAGGACACATGTGCACAGGCTAGGGAGAATAGCTAACATCTGCTCAAGTGCCTCCTCTCTCATTTACTCCTGCCAAGCCTGTAAGGAATCACCGTCCCTGTTTTGTAGTTGAGGAACTAAGATTTAGGGAGGCTAAGGAACCAGTAGGGCTACCTGTATTGTAAAACAACATCAAAGGGCTAGGACTGCCAAGATCCCTACTATCTGCAGCTGCAAAAGGTGGGGTGGGAATGGGCCGCAGCCAGTAGCTCTCCCTCTCAGGTTCAGGCTGTCTACCACCGGCACCCGAGGAGCCGTTTCCGGAGAATGAAGTGTGGAGGCCAAGGAGGAAATCCCCGGGTGGGGAGCGTGTACTGGGGCCTTCCAGGAATTATGAAACTTGATCCTGCAGGCCACGAGCCCTGGCATAGCGGAGTCGAAGCAGGGGGAACCTCAAACCCAGCACTGGGTAAGGGAGGCATCAGAACTTCAGGTGGGCCAGAGGTTGCTACAGGTGTGTCCTCAAGCCTACTTCCTCCCCAGTCTTCTCTCTCCTACACCCAAGCACACGTGCCAACAGGGATGGAGGACGGGCTGGACCATGAGGGGCTGACTCCCAGGGTCAGGATTGAAGCAAGGGGACTGATAAAGACTCAGGAAAAGTTTCAGGCTTAATCCCCACCCACAAAGCAGCTTTAGGCCACTGGGTTCCACCACAAAGAC
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Task1_train_23164
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A mutation found in INPP5K (inositol polyphosphate-5-phosphatase K) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability
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TATGAAACTTGATCCTGCAGGCCACGAGCCCTGGCATAGCGGAGTCGAAGCAGGGGGAACCTCAAACCCAGCACTGGGTAAGGGAGGCATCAGAACTTCAGGTGGGCCAGAGGTTGCTACAGGTGTGTCCTCAAGCCTACTTCCTCCCCAGTCTTCTCTCTCCTACACCCAAGCACACGTGCCAACAGGGATGGAGGACGGGCTGGACCATGAGGGGCTGACTCCCAGGGTCAGGATTGAAGCAAGGGGACTGATAAAGACTCAGGAAAAGTTTCAGGCTTAATCCCCACCCACAAAGCAGCTTTAGGCCACTGGGTTCCACCACAAAGACACTGGCTCGCTTTGTGAAGGAGCAGCAGGGAAGTGGGGGCGGGGAGGGTGGGGTCGGGGCAGGACAGAGTTAGACTGGGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTCAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAATAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCACGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCA
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TATGAAACTTGATCCTGCAGGCCACGAGCCCTGGCATAGCGGAGTCGAAGCAGGGGGAACCTCAAACCCAGCACTGGGTAAGGGAGGCATCAGAACTTCAGGTGGGCCAGAGGTTGCTACAGGTGTGTCCTCAAGCCTACTTCCTCCCCAGTCTTCTCTCTCCTACACCCAAGCACACGTGCCAACAGGGATGGAGGACGGGCTGGACCATGAGGGGCTGACTCCCAGGGTCAGGATTGAAGCAAGGGGACTGATAAAGACTCAGGAAAAGTTTCAGGCTTAATCCCCACCCACAAAGCAGCTTTAGGCCACTGGGTTCCACCACAAAGACACTGGCTCGCTTTGTGAAGGAGCAGCAGGGAAGTGGGGGCGGGGAGGGTGGGGTCGGGGCAGGACAGAGTTAGACTGGGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTAAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAATAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCACGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCA
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Task1_train_23165
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A genetic alteration is present in INPP5K (inositol polyphosphate-5-phosphatase K) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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AAGACACTGGCTCGCTTTGTGAAGGAGCAGCAGGGAAGTGGGGGCGGGGAGGGTGGGGTCGGGGCAGGACAGAGTTAGACTGGGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTCAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAATAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCACGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCAGAGGGTACAGGGGGATGGGAGAAAAGGGCAGTTAATGCCAAAACATCTCTCCTCCAACAGACCCCGTCCTTAGAGGTCGACGTTCTCAAAAGCACTTCAAGAAATTCTTGGCCAGTTTAAAGCAACTTCCTGTCCCTCCCTGTTAGCATAAACAACACTATACAGAAACCACCTTCCCAGGCACTCGGCCTGAGATTTTGAGCTTCATTTGTTTACGATCTCCCCCTGCTGTCCGACAGAGGCTTAAGGAACAAAGACCTTTTACTCAGAGACTTCTTTTCCCAGACTCACTCTAAGAGGATGGAGAGCAAAAGTCCGGATTTCTT
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AAGACACTGGCTCGCTTTGTGAAGGAGCAGCAGGGAAGTGGGGGCGGGGAGGGTGGGGTCGGGGCAGGACAGAGTTAGACTGGGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTCAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAGTAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCACGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCAGAGGGTACAGGGGGATGGGAGAAAAGGGCAGTTAATGCCAAAACATCTCTCCTCCAACAGACCCCGTCCTTAGAGGTCGACGTTCTCAAAAGCACTTCAAGAAATTCTTGGCCAGTTTAAAGCAACTTCCTGTCCCTCCCTGTTAGCATAAACAACACTATACAGAAACCACCTTCCCAGGCACTCGGCCTGAGATTTTGAGCTTCATTTGTTTACGATCTCCCCCTGCTGTCCGACAGAGGCTTAAGGAACAAAGACCTTTTACTCAGAGACTTCTTTTCCCAGACTCACTCTAAGAGGATGGAGAGCAAAAGTCCGGATTTCTT
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Task1_train_23166
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Given this variant in gene INPP5K (inositol polyphosphate-5-phosphatase K) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability
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GGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTCAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAATAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCACGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCAGAGGGTACAGGGGGATGGGAGAAAAGGGCAGTTAATGCCAAAACATCTCTCCTCCAACAGACCCCGTCCTTAGAGGTCGACGTTCTCAAAAGCACTTCAAGAAATTCTTGGCCAGTTTAAAGCAACTTCCTGTCCCTCCCTGTTAGCATAAACAACACTATACAGAAACCACCTTCCCAGGCACTCGGCCTGAGATTTTGAGCTTCATTTGTTTACGATCTCCCCCTGCTGTCCGACAGAGGCTTAAGGAACAAAGACCTTTTACTCAGAGACTTCTTTTCCCAGACTCACTCTAAGAGGATGGAGAGCAAAAGTCCGGATTTCTTGTTCCCACTCTCAAATCCGACGATTAGCAGCAAATCCAAGCATCGTGACTTAGACTAAGTGGGCGATTAGCGTTGTTCCCCG
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GGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTCAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAATAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCATGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCAGAGGGTACAGGGGGATGGGAGAAAAGGGCAGTTAATGCCAAAACATCTCTCCTCCAACAGACCCCGTCCTTAGAGGTCGACGTTCTCAAAAGCACTTCAAGAAATTCTTGGCCAGTTTAAAGCAACTTCCTGTCCCTCCCTGTTAGCATAAACAACACTATACAGAAACCACCTTCCCAGGCACTCGGCCTGAGATTTTGAGCTTCATTTGTTTACGATCTCCCCCTGCTGTCCGACAGAGGCTTAAGGAACAAAGACCTTTTACTCAGAGACTTCTTTTCCCAGACTCACTCTAAGAGGATGGAGAGCAAAAGTCCGGATTTCTTGTTCCCACTCTCAAATCCGACGATTAGCAGCAAATCCAAGCATCGTGACTTAGACTAAGTGGGCGATTAGCGTTGTTCCCCG
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Task1_train_23167
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The gene PRPF8 (pre-mRNA processing factor 8) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Retinal dystrophy
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GTCCTGGGCTGGGTCCTTGCCCTCATACGGCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGC
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GTCCTGGGCTGGGTCCTTGCCCTCATACGGCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATTCAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGC
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Task1_train_23168
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This alteration in PRPF8 (pre-mRNA processing factor 8) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Retinal dystrophy
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GGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCT
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GGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGTAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCT
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Task1_train_23169
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This variant affects the gene PRPF8 (pre-mRNA processing factor 8) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCC
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GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGACTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCC
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Task1_train_23170
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The variant affects gene PRPF8 (pre-mRNA processing factor 8), which is on Chromosome 17. 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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GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCC
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GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGGCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCC
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Task1_train_23171
|
This variant impacts the gene PRPF8 (pre-mRNA processing factor 8) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Retinal dystrophy
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GCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCA
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GCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCTTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCA
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Task1_train_23172
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The following genetic variant occurs in PRPF8 (pre-mRNA processing factor 8) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Retinal dystrophy
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CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
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CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCCGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
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Task1_train_23173
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Gene PRPF8 (pre-mRNA processing factor 8) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Retinitis pigmentosa 13
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CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
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CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCCGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
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Task1_train_23174
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This is a variant in PRPF8 (pre-mRNA processing factor 8), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Retinitis pigmentosa
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CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
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CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCCGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
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Task1_train_23175
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Chromosome 17 houses a mutation in gene PRPF8 (pre-mRNA processing factor 8). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Retinal dystrophy
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GTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGT
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GTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGCGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGT
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Task1_train_23176
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This genomic variant is located on Chromosome 17, within the PRPF8 (pre-mRNA processing factor 8) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; not provided
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CTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTG
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CTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTATAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTG
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Task1_train_23177
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Gene PRPF8 (pre-mRNA processing factor 8) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Retinal dystrophy
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GCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTGTTTTTTTAGAC
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GCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGAGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTGTTTTTTTAGAC
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Task1_train_23178
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Given this variant in gene PRPF8 (pre-mRNA processing factor 8) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Retinitis pigmentosa 13
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GACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTGTTTTTTTAGACGGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAAGCTCCACCTCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAACCTCCCTAGTAGCTGCAACTACGGGCGCATGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCAGCCGAGTGTTGGGATTACAGGCATGAGCCAGCACGCACACCTGGTCAGGAATTTGTTTCTGACCATATCTGTTCTCTTCCAAATACTATCAGGCCAATACTACAATTACTACCTTCTCTCAGCTGCCACAGCTTTTGCTATCTCATGGGGCCAAAACCCACCTCGTTGTTTTGGCTATCCTTGTATAATTACTCATCCATGAATCTTGAAACCAGCATCTCAAGTTCCAGACAATCTCAGGTCTGAGTTTTAGGCACAAAATGAGTTGGGCACACACTGTGGCCTAGCTGAGTCCACTTACTCACTTGGGCCCGAAGGTCAGATATGCAGATGAACTTCTTAAGCACATTCTTGGGAAGGATGTAGGTGTAGCCAGTCTCCTTGATGTCGTCAGATGAAACATAGATGTGATTGGTCCTTAGGTGCAGGTTGGCAGCAGAGATGGCCCTAAAAACAGGCAGGGAGTGTCAGCATCGCTCAGCCCAGCACCTTAGGTAGTGCAGCCGGCCTTTCCATCCCCACCCTCTTGCCCGACAGTACCTGACCCTCCACTCAGTCTTGGATGAGAAAGTCTGGGTCTCATAGTTGCTGGTGGTGGAGGTGATGATCTCATCGCCATGCTTGTTGACAGTGCGAGTCTGTGTTGCCGTCAGCTGCGATTGTTCCTTGGTCTGCTTCTCGATCTCAGCGATCTGCTGCCGCTGCTGTGACGGTGCCGAGATCTCCATACCCAGGATGATGTCTCGAATTTCTGATTGTGTCAGTGATGCCACGTTCACACTGTGGGGATGGTGTGGGTTATATTACAAGGATCCCTTCCCCTTGGTCACTTCTGCCTCAATGGAAAGGGTGTAACTTGGTAGGACAGGACAGCCTATACTCACGCCCCAGACAATCCACAAGAGCTGCTTCTACAGGAAGTGTGAAACGGAGGTGCACTAACACTTCCAAGATTCGTCAGATCCAAGCGGGACAGCACACTGCGTGTGCACCTTCCCACTGTTTAGCATCCATAAACCCTACGCTTCCTTGACCAAAACAATGCTCTGGCATGGAACTGTTCTCAGAAATGGAAACCCCAGAAACCCTAGAATACTGGTTCTTAATCAGAGGTGGTATTGTCCGTCACCCTATGGATAATTTTGGTTGCCACGATGACAGGGAGGGAGACGAGGGGAGGAAGGTGTGTGTGTGTGTTGGCAGCAGTCTCGGATACTTAGGGTCTCGGATGTTCAAAATTCTTCCCATGTATGGACAGTAAAGAAATGCCCTGTTTGAAATGGCAACAGTGAGAAACAATGGCCAAGAGTCAGACTGAAGCCCTAAAACAGGGATGCTTCCCATACTATTCGAAGACACTGCTGTATCTCTCTTCCTCGAGACTCTGTAAGATAATTTCTTTCCTTGTTTTCAAGACAAGAGTCTCGCTCTGTTACCCAGGCTGGAGTACAGTGGCATCATCATGGCTCACTGCAGCCTCAAACCCCCGGGCTCAAGCAAGCCTCCTGCCTCAGCCTCCAAGAAGCTGGGACTACAAGCGTGTACCACCACACCTGTTTTAAATTTTTTTTTTTTGGTAGAGATGGCGTCAGTCTCTTGTTGATCAGGCTGGTTTCAACTCCTGGCTCATGCAATCCTCCCACCTTGGCCTCCCAAAGTGCTGGTATTACTAGCATGAGCACTCAAGCCTGGCTAAGACAAGATAATTTCTTGAGAAACGTCTTTTTTTTTTTTTTTTTTGGAGACAGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTAGGCGCCATCGCACCCGGCTAACTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGCCAGGATGGTTTCAAACTCCTGACCTCAAATGATCTACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTTCTTGAGAAACTTCTAAGCCTAAGTGCTTCCAAAAAACCCCAGAAAACCGTATATAGACCTCCTGTCTGTGTCCCCACCAGCACTGCTCACTTGTTTTTCTTGCCGTAGTCAGCCAAGATCAGATCCTTGAGCTGCACCTCGACCTTGATCCATTCTTCGTCAGTCAGAGTGGGCCAGATGTGGTGTGGTTCTGTAATAGTAGTCTTGTCTGGCTTCAGGATCACTTTTGCCCGATCGTTGTTCACATGTAGGGCACGCAGAATCAGGATGAGACGGGAGAAGGCCTGGGAAAAGATTTGGAAGAGTGGGGTAGGTCAGCTGCTTGAGGCTCTCCCACTTTAATCCT
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GACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTGTTTTTTTAGACGGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAAGCTCCACCTCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAACCTCCCTAGTAGCTGCAACTACGGGCGCATGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCAGCCGAGTGTTGGGATTACAGGCATGAGCCAGCACGCACACCTGGTCAGGAATTTGTTTCTGACCATATCTGTTCTCTTCCAAATACTATCAGGCCAATACTACAATTACTACCTTCTCTCAGCTGCCACAGCTTTTGCTATCTCATGGGGCCAAAACCCACCTCGTTGTTTTGGCTATCCTTGTATAATTACTCATCCATGAATCTTGAAACCAGCATCTCAAGTTCCAGACAATCTCAGGTCTGAGTTTTAGGCACAAAATGAGTTGGGCACACACTGTGGCCTAGCTGAGTCCACTTACTCACTTGGGCCCGAAGGTCAAATATGCAGATGAACTTCTTAAGCACATTCTTGGGAAGGATGTAGGTGTAGCCAGTCTCCTTGATGTCGTCAGATGAAACATAGATGTGATTGGTCCTTAGGTGCAGGTTGGCAGCAGAGATGGCCCTAAAAACAGGCAGGGAGTGTCAGCATCGCTCAGCCCAGCACCTTAGGTAGTGCAGCCGGCCTTTCCATCCCCACCCTCTTGCCCGACAGTACCTGACCCTCCACTCAGTCTTGGATGAGAAAGTCTGGGTCTCATAGTTGCTGGTGGTGGAGGTGATGATCTCATCGCCATGCTTGTTGACAGTGCGAGTCTGTGTTGCCGTCAGCTGCGATTGTTCCTTGGTCTGCTTCTCGATCTCAGCGATCTGCTGCCGCTGCTGTGACGGTGCCGAGATCTCCATACCCAGGATGATGTCTCGAATTTCTGATTGTGTCAGTGATGCCACGTTCACACTGTGGGGATGGTGTGGGTTATATTACAAGGATCCCTTCCCCTTGGTCACTTCTGCCTCAATGGAAAGGGTGTAACTTGGTAGGACAGGACAGCCTATACTCACGCCCCAGACAATCCACAAGAGCTGCTTCTACAGGAAGTGTGAAACGGAGGTGCACTAACACTTCCAAGATTCGTCAGATCCAAGCGGGACAGCACACTGCGTGTGCACCTTCCCACTGTTTAGCATCCATAAACCCTACGCTTCCTTGACCAAAACAATGCTCTGGCATGGAACTGTTCTCAGAAATGGAAACCCCAGAAACCCTAGAATACTGGTTCTTAATCAGAGGTGGTATTGTCCGTCACCCTATGGATAATTTTGGTTGCCACGATGACAGGGAGGGAGACGAGGGGAGGAAGGTGTGTGTGTGTGTTGGCAGCAGTCTCGGATACTTAGGGTCTCGGATGTTCAAAATTCTTCCCATGTATGGACAGTAAAGAAATGCCCTGTTTGAAATGGCAACAGTGAGAAACAATGGCCAAGAGTCAGACTGAAGCCCTAAAACAGGGATGCTTCCCATACTATTCGAAGACACTGCTGTATCTCTCTTCCTCGAGACTCTGTAAGATAATTTCTTTCCTTGTTTTCAAGACAAGAGTCTCGCTCTGTTACCCAGGCTGGAGTACAGTGGCATCATCATGGCTCACTGCAGCCTCAAACCCCCGGGCTCAAGCAAGCCTCCTGCCTCAGCCTCCAAGAAGCTGGGACTACAAGCGTGTACCACCACACCTGTTTTAAATTTTTTTTTTTTGGTAGAGATGGCGTCAGTCTCTTGTTGATCAGGCTGGTTTCAACTCCTGGCTCATGCAATCCTCCCACCTTGGCCTCCCAAAGTGCTGGTATTACTAGCATGAGCACTCAAGCCTGGCTAAGACAAGATAATTTCTTGAGAAACGTCTTTTTTTTTTTTTTTTTTGGAGACAGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTAGGCGCCATCGCACCCGGCTAACTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGCCAGGATGGTTTCAAACTCCTGACCTCAAATGATCTACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTTCTTGAGAAACTTCTAAGCCTAAGTGCTTCCAAAAAACCCCAGAAAACCGTATATAGACCTCCTGTCTGTGTCCCCACCAGCACTGCTCACTTGTTTTTCTTGCCGTAGTCAGCCAAGATCAGATCCTTGAGCTGCACCTCGACCTTGATCCATTCTTCGTCAGTCAGAGTGGGCCAGATGTGGTGTGGTTCTGTAATAGTAGTCTTGTCTGGCTTCAGGATCACTTTTGCCCGATCGTTGTTCACATGTAGGGCACGCAGAATCAGGATGAGACGGGAGAAGGCCTGGGAAAAGATTTGGAAGAGTGGGGTAGGTCAGCTGCTTGAGGCTCTCCCACTTTAATCCT
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Task1_train_23179
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Mutation context: Chromosome 17, Gene SERPINF2 (serpin family F member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Alpha-2-plasmin inhibitor deficiency
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AGATGAGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCCCATGCCCGGCCACACTGCTAGAAACTTTAAAAGCATCTCATTCGGTTACGTGTCCGCCTGCAGTGGGACAGGTAGTATGACTCCACCCCACTGTGAGGAAGTGGAGGAGCAGTGGGGTCAGTCACACGCCTGGCAGGATGGCCAGGAGCCCCATTGTCTGCCTTAGGAGCACCTGCTGGCCCCACCCCCACTTAGCTTCGGGGCTTTCTGTCCTCATGCTCTTCCCTTCCCTTTTCTGTAGGTGGCTCATTTCCCCTTTAAGAACAACATGAGCTTTGTGGTCCTTGTACCCACCCACTTTGAATGGAACGTGTCCCAGGTACTGGCCAACCTGAGTTGGGACACCCTGCACCCACCTCTGGTGTGGGAGAGGCCCACCAAGGTCCGGCTGCCTAAGCTGTATCTGAAACACCAAATGGACCTGGTGGCCACCCTCAGCCAGCTGGGTAAGGAGGAGGGTGCGGGCGAGCCCCCGAGGTCAGGCTGGGCAGGGCGGGTAAGGAGGAAGCGTCTGGCTGGCAGTGGAGCTGAGTCAGAGCTGTCCTGTGTCCTGCTCTTTTCCAGGGCTTCGGGAGCGGGGAGAGGGTTGAATATGAGCCCCCAGACCCTCTGTCCTAGAGGAAGTTGGGGTGGCCCGGGGAATGGGGCTCTGCTTTGCTGCCCAAGACCTCGCATTGCAAGGAGAGTCTGGGTAGAGAGCCTGGGATGGCATGTGAGCCTCGCTGGCTTCCCTGGAAGGGGAAGGAGGAGAAGCTGGGGTGTCACACTGTTAAAGAAATGCTGGGTGGAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAAGCTGAAGTGGGTGGATTGCTTGAGCCCGGGAGTCCGACACCAGCCTGTGCAACACATTGAAACTCCGTCCCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGCATGCTACTGGGGAGGTTGAGGTGGGAGGCCCTCTTGACCCCAGGTGGCTGAGGCTGCAGTGAGCCATAATTGTGCCACTGCACTCCAGCCTCAGCAAAAGAACTAAGACCTTGTCTCAAAAATAAAAATAAAGGCCGGGCATGGTGGCTCACGTCTGTAATCCTAGCACTTTGGGAGGCCAAAGAGGGTGGATCACCTGAGGTCATGAGTTTGAGACCAGCCTGGCCAACATGGCCAAACCCGTCTCCACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGAGGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGATGACAGAGTGAGACTCCATCTCAAAAAAAAATTATAATAACTAAAATAAATAAATAAAGCATCTATCCTTCAGCCATTTGCTAAGCAGCTGCTGTATTCCAGGCACTGTACCAGGTACCGGGAGCCCACCATGTACAAACAGCTGAGTCTAATGGGGTGGGCAGACGAGCAATCACATACTTACTACAGCATAAGCGATAAGACAGAGAGGGCTTCTCTCCAGCTCACCTGGGAGAACACTGAAAATGTACCTTGGTTGGACTTTAGAGCTGGGGATCAGGGAAGGCTTCCTGGAGGAGGTGGTGTTTAAGCTGAGTCTTGGAAACCGGATAGGAATGAAGCAGGTATCTGTGAGTTCAAGCTGTTCCCTGGCCAGGATCTCAGACACCCTCCCAAGCAGCTCCAGGAGCCTGTGAGGCCAAGGGCAGCTCTGACCAGCCATCTCTGGCCCTGGGCAGGCCTGCAGGAGTTGTTCCAGGCCCCAGACCTGCGTGGGATCTCCGAGCAGAGCCTGGTGGTGTCCGGCGTGCAGCATCAGTCCACCCTGGAGCTCAGCGAGGTCGGCGTGGAGGCGGCGGCGGCCACCAGCATTGCCATGTCCCGCATGTCCCTGTCCTCCTTCAGCGTGAACCGCCCCTTCCTCTTCTTCATCTTCGAGGACACCACAGGCCTTCCCCTCTTCGTGGGCAGCGTGAGGAACCCCAACCCCAGTGCACCGCGGGAGCTCAAGGAACAGCAGGATTCCCCGGGCAACAAGGACTTCCTCCAGAGCCTGAAAGGCTTCCCCCGCGGAGACAAGCTTTTCGGCCCTGACTTAAAACTTGTGCCCCCCATGGAGGAGGATTACCCCCAGTTTGGCAGCCCCAAGTGAGGGGCCGTGGCTGTGGCATCCAGAGTCCCTGCCTGGACCAGCCTCTCCACTCATGTGACTCTTTCCAACCGGCTTTGTGGCACTGGGGCAGGGGCCGGGGGCAGTCTGAGAGAGGCCATTCTTTCCCAACACCTCTTGGGGAGTTTAGGGTGGGGGGGGGGCGCGGCTGGGAGGAGGGCAGGCATCGGGGAGCCGGGAGCCTGACCCTCATCTTTCTTCCAAACAGGCTCAGAGGGTGTCCTGCACCGGGGCCTGGGCAGGAGGGAGGTGCTTCTAGTTCTGCCAGGAGACAGGTTAGCTGCTCCCCACGTCAGCTGGGACACCCCGACTTTTGTTTACCAGAGAAAAAGGGAGGGGGAGAGGGCTGCCTTTGGACTTGTCCCGGGACACCTAGGCTAGGGTGGGGAGAGACGGGCCCTGGTGGTGGCTCGGGAGGCGAAGCGTTGTCCTCAGCCCCGCGTGGAACTCGTGTCTGGCACAGCCTGGCTGTGGCCTAACCTGCCGAGAGTCCATCAGCCTCCATCCTACCCCCTGTGCCTTGTCACGCCAGACTTCCCACGGCTCCTCGAGATCCCAACACTGCCAGCATTTCCCTTCCTTCCTCTCCTGTCTCCCTCCTCTGCCCGGGAGCTCAGGAACCGAGGCAGGGAAGGATCCCATGAGCTCCTTAAGGCTCTTTTGTAAGGTTTTTGTAGTGATTTTTATGCCACCTGAATAAAGAATGAATGGGCCTGGCTGGTTTGATGTCACCGTTCTGGGCATGGGTGGGGACAAGTGAGGATGGTGGGGAAGGCAGGGAGGCGGCCGCAGGGTGGACTGTGCTGAGGAACCCTGGGCCCAGCAGGGGTGGCAGCCCGCGCAGTGCCACGTTTGGCCTCTGGCCGCTCGCCAGGCATCCTCCACCCCGTGGTCCCCTCTGACCTCGCCAGCCCTCCCCCGGGACACCTCCACGCCAGCCTGGCTCTGCTCCTGGCTTCTTCTTCTCTCTATGCCTCAGGCAGCCGGCAACAGGGCGGCTCAGAACAGCGCCAGCCTCCTGGTTTGGGAGAAGAACTGGCAATTAGGGAGTTTGTGGAGCTTCTAATTACACACCAGCCCCTCTGCCAGGAGCTGGTGCCCGCCAGCCGGGGGCAGGCTGCCGGGAGTACCCAGCTCCAGCTGGAGACAGTCAGTGCCTGAGGATTTGGGGGAAGCAGGTGGGGAAACCTTGGCACAGGGCTGACACCTTCCTCTGTGCCAGAGCCCAGGAGCTGGGGCAGCGTGGGTGACCATGTGGGTGGGCACGCTTCCCTGCTGGAGGTGCAGGGGGTCCACGTGGCAGCGGCCACCTGGAGCCCTAATGTGCAGCGGTTAAGAGCAAGCCCCTGGAAGTCAGAGAGGCCTGGCATGGAGTCTTGCTTCTTGCAAACGAGCCGTGTGGAGAGAGAGATAGTAAATCAACAAAGGGAAATACATGGTCTGTCCGAGGATGAGCTGCCGGAGAGCAATGGTGAAAGTGAAGTGGGGGAGGGGGCGGGGCTGGGAGGAAAAGCCTTGTGAGAAGGTGACACGAGAGCACGGCCTTGAAGGGGAAGAAGGAGGGCACTATGGAGGTCCCGGCGAAGCGTGGCCTGGCCGAGGAACGGCATGTGCAGAGGTCCTGCCGAGGAGCTCAAGACAAGTAGGGGACGGTGGGGCTGGAGTGGAGAGAGTGAGTGGGAGGAGGAGTAGGAGTCAGAGAGGAGCTCAGGACAGATCCTTTAGGCTCTAGGGACACGATAAACACAGTGTTTTTTGTCTTGTCAAGTGTGTCCTTTTTATTT
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AGATGAGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCCCATGCCCGGCCACACTGCTAGAAACTTTAAAAGCATCTCATTCGGTTACGTGTCCGCCTGCAGTGGGACAGGTAGTATGACTCCACCCCACTGTGAGGAAGTGGAGGAGCAGTGGGGTCAGTCACACGCCTGGCAGGATGGCCAGGAGCCCCATTGTCTGCCTTAGGAGCACCTGCTGGCCCCACCCCCACTTAGCTTCGGGGCTTTCTGTCCTCATGCTCTTCCCTTCCCTTTTCTGTAGGTGGCTCATTTCCCCTTTAAGAACAACATGAGCTTTGTGGTCCTTGTACCCACCCACTTTGAATGGAACGTGTCCCAGGTACTGGCCAACCTGAGTTGGGACACCCTGCACCCACCTCTGGTGTGGGAGAGGCCCACCAAGGTCCGGCTGCCTAAGCTGTATCTGAAACACCAAATGGACCTGGTGGCCACCCTCAGCCAGCTGGGTAAGGAGGAGGGTGCGGGCGAGCCCCCGAGGTCAGGCTGGGCAGGGCGGGTAAGGAGGAAGCGTCTGGCTGGCAGTGGAGCTGAGTCAGAGCTGTCCTGTGTCCTGCTCTTTTCCAGGGCTTCGGGAGCGGGGAGAGGGTTGAATATGAGCCCCCAGACCCTCTGTCCTAGAGGAAGTTGGGGTGGCCCGGGGAATGGGGCTCTGCTTTGCTGCCCAAGACCTCGCATTGCAAGGAGAGTCTGGGTAGAGAGCCTGGGATGGCATGTGAGCCTCGCTGGCTTCCCTGGAAGGGGAAGGAGGAGAAGCTGGGGTGTCACACTGTTAAAGAAATGCTGGGTGGAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAAGCTGAAGTGGGTGGATTGCTTGAGCCCGGGAGTCCGACACCAGCCTGTGCAACACATTGAAACTCCGTCCCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGCATGCTACTGGGGAGGTTGAGGTGGGAGGCCCTCTTGACCCCAGGTGGCTGAGGCTGCAGTGAGCCATAATTGTGCCACTGCACTCCAGCCTCAGCAAAAGAACTAAGACCTTGTCTCAAAAATAAAAATAAAGGCCGGGCATGGTGGCTCACGTCTGTAATCCTAGCACTTTGGGAGGCCAAAGAGGGTGGATCACCTGAGGTCATGAGTTTGAGACCAGCCTGGCCAACATGGCCAAACCCGTCTCCACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGAGGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGATGACAGAGTGAGACTCCATCTCAAAAAAAAATTATAATAACTAAAATAAATAAATAAAGCATCTATCCTTCAGCCATTTGCTAAGCAGCTGCTGTATTCCAGGCACTGTACCAGGTACCGGGAGCCCACCATGTACAAACAGCTGAGTCTAATGGGGTGGGCAGACGAGCAATCACATACTTACTACAGCATAAGCGATAAGACAGAGAGGGCTTCTCTCCAGCTCACCTGGGAGAACACTGAAAATGTACCTTGGTTGGACTTTAGAGCTGGGGATCAGGGAAGGCTTCCTGGAGGAGGTGGTGTTTAAGCTGAGTCTTGGAAACCGGATAGGAATGAAGCAGGTATCTGTGAGTTCAAGCTGTTCCCTGGCCAGGATCTCAGACACCCTCCCAAGCAGCTCCAGGAGCCTGTGAGGCCAAGGGCAGCTCTGACCAGCCATCTCTGGCCCTGGGCAGGCCTGCAGGAGTTGTTCCAGGCCCCAGACCTGCGTGGGATCTCCGAGCAGAGCCTGGTGGTGTCCGGCGTGCAGCATCAGTCCACCCTGGAGCTCAGCGAGGTCGGCGTGGAGGCGGCGGCGGCCACCAGCATTGCCATGTCCCGCATGTCCCTGTCCTCCTTCAGCATGAACCGCCCCTTCCTCTTCTTCATCTTCGAGGACACCACAGGCCTTCCCCTCTTCGTGGGCAGCGTGAGGAACCCCAACCCCAGTGCACCGCGGGAGCTCAAGGAACAGCAGGATTCCCCGGGCAACAAGGACTTCCTCCAGAGCCTGAAAGGCTTCCCCCGCGGAGACAAGCTTTTCGGCCCTGACTTAAAACTTGTGCCCCCCATGGAGGAGGATTACCCCCAGTTTGGCAGCCCCAAGTGAGGGGCCGTGGCTGTGGCATCCAGAGTCCCTGCCTGGACCAGCCTCTCCACTCATGTGACTCTTTCCAACCGGCTTTGTGGCACTGGGGCAGGGGCCGGGGGCAGTCTGAGAGAGGCCATTCTTTCCCAACACCTCTTGGGGAGTTTAGGGTGGGGGGGGGGCGCGGCTGGGAGGAGGGCAGGCATCGGGGAGCCGGGAGCCTGACCCTCATCTTTCTTCCAAACAGGCTCAGAGGGTGTCCTGCACCGGGGCCTGGGCAGGAGGGAGGTGCTTCTAGTTCTGCCAGGAGACAGGTTAGCTGCTCCCCACGTCAGCTGGGACACCCCGACTTTTGTTTACCAGAGAAAAAGGGAGGGGGAGAGGGCTGCCTTTGGACTTGTCCCGGGACACCTAGGCTAGGGTGGGGAGAGACGGGCCCTGGTGGTGGCTCGGGAGGCGAAGCGTTGTCCTCAGCCCCGCGTGGAACTCGTGTCTGGCACAGCCTGGCTGTGGCCTAACCTGCCGAGAGTCCATCAGCCTCCATCCTACCCCCTGTGCCTTGTCACGCCAGACTTCCCACGGCTCCTCGAGATCCCAACACTGCCAGCATTTCCCTTCCTTCCTCTCCTGTCTCCCTCCTCTGCCCGGGAGCTCAGGAACCGAGGCAGGGAAGGATCCCATGAGCTCCTTAAGGCTCTTTTGTAAGGTTTTTGTAGTGATTTTTATGCCACCTGAATAAAGAATGAATGGGCCTGGCTGGTTTGATGTCACCGTTCTGGGCATGGGTGGGGACAAGTGAGGATGGTGGGGAAGGCAGGGAGGCGGCCGCAGGGTGGACTGTGCTGAGGAACCCTGGGCCCAGCAGGGGTGGCAGCCCGCGCAGTGCCACGTTTGGCCTCTGGCCGCTCGCCAGGCATCCTCCACCCCGTGGTCCCCTCTGACCTCGCCAGCCCTCCCCCGGGACACCTCCACGCCAGCCTGGCTCTGCTCCTGGCTTCTTCTTCTCTCTATGCCTCAGGCAGCCGGCAACAGGGCGGCTCAGAACAGCGCCAGCCTCCTGGTTTGGGAGAAGAACTGGCAATTAGGGAGTTTGTGGAGCTTCTAATTACACACCAGCCCCTCTGCCAGGAGCTGGTGCCCGCCAGCCGGGGGCAGGCTGCCGGGAGTACCCAGCTCCAGCTGGAGACAGTCAGTGCCTGAGGATTTGGGGGAAGCAGGTGGGGAAACCTTGGCACAGGGCTGACACCTTCCTCTGTGCCAGAGCCCAGGAGCTGGGGCAGCGTGGGTGACCATGTGGGTGGGCACGCTTCCCTGCTGGAGGTGCAGGGGGTCCACGTGGCAGCGGCCACCTGGAGCCCTAATGTGCAGCGGTTAAGAGCAAGCCCCTGGAAGTCAGAGAGGCCTGGCATGGAGTCTTGCTTCTTGCAAACGAGCCGTGTGGAGAGAGAGATAGTAAATCAACAAAGGGAAATACATGGTCTGTCCGAGGATGAGCTGCCGGAGAGCAATGGTGAAAGTGAAGTGGGGGAGGGGGCGGGGCTGGGAGGAAAAGCCTTGTGAGAAGGTGACACGAGAGCACGGCCTTGAAGGGGAAGAAGGAGGGCACTATGGAGGTCCCGGCGAAGCGTGGCCTGGCCGAGGAACGGCATGTGCAGAGGTCCTGCCGAGGAGCTCAAGACAAGTAGGGGACGGTGGGGCTGGAGTGGAGAGAGTGAGTGGGAGGAGGAGTAGGAGTCAGAGAGGAGCTCAGGACAGATCCTTTAGGCTCTAGGGACACGATAAACACAGTGTTTTTTGTCTTGTCAAGTGTGTCCTTTTTATTT
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Task1_train_23180
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The gene RPA1 (replication protein A1) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
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TGACTAGTGCCTTGCCATCAGTTTTACCAGTTACAAAAGTTGATTTTCTTTTTCTCACCCATTATCTTGCCCGTTGAGGCAAGAGAAGTGTTTAAGAGGGCGGCCTTCAGAAACAGCAGTGTCTGGATTCGTCACCATTATTACTTTGACCTCGGGGCTGACATCAGCAAACATAGCAGTGAGCTGCTGTGTGCGCAGCCTTCATCCTAGATTGCTTTTGTAGCCTCCAGCCTCAGTCTCTATTTGATCTGCGTATCTCTTGCATATAAAAAGGAAAAGCTTTGCCTCTCATGTTATATGATTTCACTAGTGGCACCTCCAAAATTTAGAGTTATTGTAAAGCTTACTATAAAAAAGCTAAGTAGAATAGTAATAACTCCTTTTCGTTTGCGTTTGTTTTTAAAGGTTCTACTGTTTCTAAGGCTTATGGTGCTTCAAAGACATTTGGAAAAGCTGCAGGTCCCAGCCTGTCACACACTTCTGGGGGAACACAGTCCAAAGTGGTGCCCATTGCCAGCCTCACTCCTTACCAGTCCAAGTGAGTTGTTGCATAGAGTAAGTTCAGAGTGTACTTATGAAATCGGAGAAGCTATTATGGACTCTTGAGTTATTTATGCGTGAACTTCAGGGTCACCACCAAATACCACCAAATAGAATGGGTTTACTCTTTTTTTTTTTTTTTTTTGCTGAGGAGGAAAGGGGTACAAATTGTGGCAAACTTTTAACTCTTGTTGGAAAATATAGTAACAATAGCAATCTGCCATAGCCTGTGGGGTTTCATTCATTTTGAAAGAATTTGAAATTAAAAATACTTAATGCTTAATCAGTTGATAGTCTTATGAGTAAAAATAAATATTTCTGATAATTCAAAAGGCATTTAATCTTCTCCTATAAACAGGTGACTTCGTCTTTGGTTTAGTTGGCTAAAATAATCTGCACTATTTGTATTAAACACATGAACATACCCTGAACATAAATTTCTTTTATATGACTTTTTTCCACCAAAAATTAATTTGAAGCCGGGCGCGGTGGCTCATGCCCGTAATCCCCGCACTTTAGGAGGCTGAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCGTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTTGTGGAGCACGCCTGTAATCCCCGCTACTCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCCTTCCAGCCTGAGTAACAGAGTGAGATTCCGTCTCTCAAGATAAATAAACAAAATAAAGTAATTTGAATAGTTAAAAATTAGAGTTCTTTTTTCAGAATCCTTCCAGATATGTTTATATTTATTCTTCAATACTCTGTAACGTAGGAAAGATATTTTTCCCTGTGAAATTATAAGTGGGGTACCTAATGTGCCCTGTGCCTCCTTTTTCCATGCTTCTCTCTAAGGTCATGCTGCTTCAGTGTGTTCTTCCTGATGGTCCACCAACATCGTGTATTCTATTCAGGGTGTGTTACGAATGAGACAGAAGTGTAACACCAGTTATATCAGTTCCCATAATTGAAAACTGTGGCAAAATATAATTGCTGGTGTTACTGTATTTTCCAGCTTAGAACCTTTCATTAAGGGGATATGGTTGCCTTGGTGATGCTTTTTGGAGAAGGGAGAGAGTTTATAAATTTACTTATTTGACAGGAGAATGAGTTAGTATTAAATCACTTTGCATGTTTTACTATTTGCTTATTCTGTAAACTGTCAAACCCATGTGTCATCTTGGGGTTTTAATTAGCTGGATTAAAATACAGGTTGGAAAACGGAATATGCGTAAGACGAGAAAGGCTGTAGGAAGATGATTTCTTACTTGATCTTTTCCAAGGAAGACCCCATACACTAATATGATCGATTTGGTTTGTAGGTGGACCATTTGTGCTCGTGTTACCAACAAAAGTCAGATCCGTACCTGGAGCAACTCCCGAGGGGAAGGGAAGCTTTTCTCCCTAGAACTGGTTGACGAAAGTGTGAGTGTTTGTCATGCTGGGGAGTGAGGGCAGTGGGCTCGCCGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCTGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCCGAGAAACAGAAGGCTCAGCTCTGCGGGCCTATGAGGTGAAGAATAATAGTAGGCCAGAGAGAAGCATGATTGTTATTGTGCTTTTCCCTCTGTCATAGTCTTTTGATGCTGTCTGGAGTAGAGGGTTAAGGTCATAAATAAAATCTTTGATCTTAAATGACAGCGTTTGTAGCAGTAGAAAGTAGTTTTCTAAATATATAAGTAGCCTCCTGGGCAGGAGAAGCTGGAAACAGTCTGATTTGCTGGCAGGTGTACTGGAAGCACTGGGAGGTGATGCCTGCTTGTGAGCGCCGTGGAGCTTTGGGACACAGCAGAAGGCACACAGTTGTGACCTCGATATGGGAGTGGTTTTGTGGGAAATGGGTTCTGACTGTGCAGATTCTCTATTTGCTTTATTTAAACTAAACAAAACCATGACGATGAGACAAAATTCCTATGCCATGGAAGTACGACAGTCTTGATAGCTGTTAATCAGTCCATTCGTTTTGCTAATAATTCCTGAAATTGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAGGGTGCACAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTTTATACTAAAAATACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATCGCCTGAACCAAGGAGGTGGAGGTTGGAGCCAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAATAATAATAATTCCTAAAATGTACTTCAGCATTCTTTTCAAAGTGCTGCAGATTTCCTGTTTGTTCAGACTCCCAAATAGGGAGAAAAAAATAGATGTTTTTTTTGGAAGTTGATATAACACCCAAAATGTTTGTGTGATGGCAGAATCAATATTAGAACCTAATTTTTTTTTAGAAATTATTGCTCTAATGTATGGTGGTTGGCTAAAATTTCTTGTCCACTTGTAAATTTTGGCTGACAGAAAAGCAAAAGTGAAAATCAGATCACAAGCAACTTGCAAACATGACTTACTCTGACATTTTTGGCAATGGCTCCGAATGTGAAGTGGTTTGTCACTGAGAGGGCACTGTGGAGGGAGCCGGTGAATCACCCCGTGGCAGCACCTTCCTCGTGGGCTCTGGGCGTGTCCCTCAGTATTCAACTTTTTTTGTTTTTATTGTCAGAATAAATTAAACTCGTCATTGCCGTTTTGTTCTGTTCTGTTTCTCAGTTGAGGCTAATGCAGCATGATTATGGGATCGGCTAGCTGAAATTCTCATTCTTCAGCGGGGCCAGTGACTTCAGTGTGTGACTGTAAAATGCGGGTTCCTGGGATGTCCGTAGCCCTCTCTGGACCCTGTTTGTGCAAGGGCCACTGCTCTCAAGATGTCACTTTGGTGCTAGGGTGGCCTGTGTTCTATCCCAGTGTCACTTGGGTGCTGGGGTGGCCTGTGTTCAATCCCGCAGCCCTAACCTGCCCACGTGCTTCTGCAGGGTGAAATCCGAGCTACAGCTTTCAATGAGCAAGTGGACAAGTTCTTTCCTCTTATTGAAGTGAACAAGGTATGGCCGTGCTGACTTTAGAACTGACACCGCCTGGGGGTGGAGTGCGGATGAAAAGACGCTGGCCCAGGGGAGGGGTGTGTGGTGGCAGACTAGGGGTTTCTGTCCGATTTGATGGTAGTCTCAGGTTCTGTGGCTTGGCCTCCTTCGCAGGTGTATTATTTCTCGAAAGGCACCCTGAAGATTGCTAACAAGCAGTTCACAGCTGTTAAAAATGACTACGAGATGACCTTCAATAACGAGACTTCCGTCATGCCCTGTGAGGACGACCATCATTTACCTACGGTTCA
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TGACTAGTGCCTTGCCATCAGTTTTACCAGTTACAAAAGTTGATTTTCTTTTTCTCACCCATTATCTTGCCCGTTGAGGCAAGAGAAGTGTTTAAGAGGGCGGCCTTCAGAAACAGCAGTGTCTGGATTCGTCACCATTATTACTTTGACCTCGGGGCTGACATCAGCAAACATAGCAGTGAGCTGCTGTGTGCGCAGCCTTCATCCTAGATTGCTTTTGTAGCCTCCAGCCTCAGTCTCTATTTGATCTGCGTATCTCTTGCATATAAAAAGGAAAAGCTTTGCCTCTCATGTTATATGATTTCACTAGTGGCACCTCCAAAATTTAGAGTTATTGTAAAGCTTACTATAAAAAAGCTAAGTAGAATAGTAATAACTCCTTTTCGTTTGCGTTTGTTTTTAAAGGTTCTACTGTTTCTAAGGCTTATGGTGCTTCAAAGACATTTGGAAAAGCTGCAGGTCCCAGCCTGTCACACACTTCTGGGGGAACACAGTCCAAAGTGGTGCCCATTGCCAGCCTCACTCCTTACCAGTCCAAGTGAGTTGTTGCATAGAGTAAGTTCAGAGTGTACTTATGAAATCGGAGAAGCTATTATGGACTCTTGAGTTATTTATGCGTGAACTTCAGGGTCACCACCAAATACCACCAAATAGAATGGGTTTACTCTTTTTTTTTTTTTTTTTTGCTGAGGAGGAAAGGGGTACAAATTGTGGCAAACTTTTAACTCTTGTTGGAAAATATAGTAACAATAGCAATCTGCCATAGCCTGTGGGGTTTCATTCATTTTGAAAGAATTTGAAATTAAAAATACTTAATGCTTAATCAGTTGATAGTCTTATGAGTAAAAATAAATATTTCTGATAATTCAAAAGGCATTTAATCTTCTCCTATAAACAGGTGACTTCGTCTTTGGTTTAGTTGGCTAAAATAATCTGCACTATTTGTATTAAACACATGAACATACCCTGAACATAAATTTCTTTTATATGACTTTTTTCCACCAAAAATTAATTTGAAGCCGGGCGCGGTGGCTCATGCCCGTAATCCCCGCACTTTAGGAGGCTGAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCGTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTTGTGGAGCACGCCTGTAATCCCCGCTACTCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCCTTCCAGCCTGAGTAACAGAGTGAGATTCCGTCTCTCAAGATAAATAAACAAAATAAAGTAATTTGAATAGTTAAAAATTAGAGTTCTTTTTTCAGAATCCTTCCAGATATGTTTATATTTATTCTTCAATACTCTGTAACGTAGGAAAGATATTTTTCCCTGTGAAATTATAAGTGGGGTACCTAATGTGCCCTGTGCCTCCTTTTTCCATGCTTCTCTCTAAGGTCATGCTGCTTCAGTGTGTTCTTCCTGATGGTCCACCAACATCGTGTATTCTATTCAGGGTGTGTTACGAATGAGACAGAAGTGTAACACCAGTTATATCAGTTCCCATAATTGAAAACTGTGGCAAAATATAATTGCTGGTGTTACTGTATTTTCCAGCTTAGAACCTTTCATTAAGGGGATATGGTTGCCTTGGTGATGCTTTTTGGAGAAGGGAGAGAGTTTATAAATTTACTTATTTGACAGGAGAATGAGTTAGTATTAAATCACTTTGCATGTTTTACTATTTGCTTATTCTGTAAACTGTCAAACCCATGTGTCATCTTGGGGTTTTAATTAGCTGGATTAAAATACAGGTTGGAAAACGGAATATGCGTAAGACGAGAAAGGCTGTAGGAAGATGATTTCTTACTTGATCTTTTCCAAGGAAGACCCCATACACTAATATGATCGATTTGGTTTGTAGGTGGACCATTTGTGCTCGTGTTACCAACAAAAGTCAGATCCGTACCTGGAGCAACTCCCGAGGGGAAGGGAAGCTTTTCTCCCTAGAACTGGCTGACGAAAGTGTGAGTGTTTGTCATGCTGGGGAGTGAGGGCAGTGGGCTCGCCGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCTGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCCGAGAAACAGAAGGCTCAGCTCTGCGGGCCTATGAGGTGAAGAATAATAGTAGGCCAGAGAGAAGCATGATTGTTATTGTGCTTTTCCCTCTGTCATAGTCTTTTGATGCTGTCTGGAGTAGAGGGTTAAGGTCATAAATAAAATCTTTGATCTTAAATGACAGCGTTTGTAGCAGTAGAAAGTAGTTTTCTAAATATATAAGTAGCCTCCTGGGCAGGAGAAGCTGGAAACAGTCTGATTTGCTGGCAGGTGTACTGGAAGCACTGGGAGGTGATGCCTGCTTGTGAGCGCCGTGGAGCTTTGGGACACAGCAGAAGGCACACAGTTGTGACCTCGATATGGGAGTGGTTTTGTGGGAAATGGGTTCTGACTGTGCAGATTCTCTATTTGCTTTATTTAAACTAAACAAAACCATGACGATGAGACAAAATTCCTATGCCATGGAAGTACGACAGTCTTGATAGCTGTTAATCAGTCCATTCGTTTTGCTAATAATTCCTGAAATTGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAGGGTGCACAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTTTATACTAAAAATACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATCGCCTGAACCAAGGAGGTGGAGGTTGGAGCCAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAATAATAATAATTCCTAAAATGTACTTCAGCATTCTTTTCAAAGTGCTGCAGATTTCCTGTTTGTTCAGACTCCCAAATAGGGAGAAAAAAATAGATGTTTTTTTTGGAAGTTGATATAACACCCAAAATGTTTGTGTGATGGCAGAATCAATATTAGAACCTAATTTTTTTTTAGAAATTATTGCTCTAATGTATGGTGGTTGGCTAAAATTTCTTGTCCACTTGTAAATTTTGGCTGACAGAAAAGCAAAAGTGAAAATCAGATCACAAGCAACTTGCAAACATGACTTACTCTGACATTTTTGGCAATGGCTCCGAATGTGAAGTGGTTTGTCACTGAGAGGGCACTGTGGAGGGAGCCGGTGAATCACCCCGTGGCAGCACCTTCCTCGTGGGCTCTGGGCGTGTCCCTCAGTATTCAACTTTTTTTGTTTTTATTGTCAGAATAAATTAAACTCGTCATTGCCGTTTTGTTCTGTTCTGTTTCTCAGTTGAGGCTAATGCAGCATGATTATGGGATCGGCTAGCTGAAATTCTCATTCTTCAGCGGGGCCAGTGACTTCAGTGTGTGACTGTAAAATGCGGGTTCCTGGGATGTCCGTAGCCCTCTCTGGACCCTGTTTGTGCAAGGGCCACTGCTCTCAAGATGTCACTTTGGTGCTAGGGTGGCCTGTGTTCTATCCCAGTGTCACTTGGGTGCTGGGGTGGCCTGTGTTCAATCCCGCAGCCCTAACCTGCCCACGTGCTTCTGCAGGGTGAAATCCGAGCTACAGCTTTCAATGAGCAAGTGGACAAGTTCTTTCCTCTTATTGAAGTGAACAAGGTATGGCCGTGCTGACTTTAGAACTGACACCGCCTGGGGGTGGAGTGCGGATGAAAAGACGCTGGCCCAGGGGAGGGGTGTGTGGTGGCAGACTAGGGGTTTCTGTCCGATTTGATGGTAGTCTCAGGTTCTGTGGCTTGGCCTCCTTCGCAGGTGTATTATTTCTCGAAAGGCACCCTGAAGATTGCTAACAAGCAGTTCACAGCTGTTAAAAATGACTACGAGATGACCTTCAATAACGAGACTTCCGTCATGCCCTGTGAGGACGACCATCATTTACCTACGGTTCA
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Task1_train_23181
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The gene RPA1 (replication protein A1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
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TAAATTTACTTATTTGACAGGAGAATGAGTTAGTATTAAATCACTTTGCATGTTTTACTATTTGCTTATTCTGTAAACTGTCAAACCCATGTGTCATCTTGGGGTTTTAATTAGCTGGATTAAAATACAGGTTGGAAAACGGAATATGCGTAAGACGAGAAAGGCTGTAGGAAGATGATTTCTTACTTGATCTTTTCCAAGGAAGACCCCATACACTAATATGATCGATTTGGTTTGTAGGTGGACCATTTGTGCTCGTGTTACCAACAAAAGTCAGATCCGTACCTGGAGCAACTCCCGAGGGGAAGGGAAGCTTTTCTCCCTAGAACTGGTTGACGAAAGTGTGAGTGTTTGTCATGCTGGGGAGTGAGGGCAGTGGGCTCGCCGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCTGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCCGAGAAACAGAAGGCTCAGCTCTGCGGGCCTATGAGGTGAAGAATAATAGTAGGCCAGAGAGAAGCATGATTGTTATTGTGCTTTTCCCTCTGTCATAGTCTTTTGATGCTGTCTGGAGTAGAGGGTTAAGGTCATAAATAAAATCTTTGATCTTAAATGACAGCGTTTGTAGCAGTAGAAAGTAGTTTTCTAAATATATAAGTAGCCTCCTGGGCAGGAGAAGCTGGAAACAGTCTGATTTGCTGGCAGGTGTACTGGAAGCACTGGGAGGTGATGCCTGCTTGTGAGCGCCGTGGAGCTTTGGGACACAGCAGAAGGCACACAGTTGTGACCTCGATATGGGAGTGGTTTTGTGGGAAATGGGTTCTGACTGTGCAGATTCTCTATTTGCTTTATTTAAACTAAACAAAACCATGACGATGAGACAAAATTCCTATGCCATGGAAGTACGACAGTCTTGATAGCTGTTAATCAGTCCATTCGTTTTGCTAATAATTCCTGAAATTGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAGGGTGCACAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTTTATACTAAAAATACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATCGCCTGAACCAAGGAGGTGGAGGTTGGAGCCAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAATAATAATAATTCCTAAAATGTACTTCAGCATTCTTTTCAAAGTGCTGCAGATTTCCTGTTTGTTCAGACTCCCAAATAGGGAGAAAAAAATAGATGTTTTTTTTGGAAGTTGATATAACACCCAAAATGTTTGTGTGATGGCAGAATCAATATTAGAACCTAATTTTTTTTTAGAAATTATTGCTCTAATGTATGGTGGTTGGCTAAAATTTCTTGTCCACTTGTAAATTTTGGCTGACAGAAAAGCAAAAGTGAAAATCAGATCACAAGCAACTTGCAAACATGACTTACTCTGACATTTTTGGCAATGGCTCCGAATGTGAAGTGGTTTGTCACTGAGAGGGCACTGTGGAGGGAGCCGGTGAATCACCCCGTGGCAGCACCTTCCTCGTGGGCTCTGGGCGTGTCCCTCAGTATTCAACTTTTTTTGTTTTTATTGTCAGAATAAATTAAACTCGTCATTGCCGTTTTGTTCTGTTCTGTTTCTCAGTTGAGGCTAATGCAGCATGATTATGGGATCGGCTAGCTGAAATTCTCATTCTTCAGCGGGGCCAGTGACTTCAGTGTGTGACTGTAAAATGCGGGTTCCTGGGATGTCCGTAGCCCTCTCTGGACCCTGTTTGTGCAAGGGCCACTGCTCTCAAGATGTCACTTTGGTGCTAGGGTGGCCTGTGTTCTATCCCAGTGTCACTTGGGTGCTGGGGTGGCCTGTGTTCAATCCCGCAGCCCTAACCTGCCCACGTGCTTCTGCAGGGTGAAATCCGAGCTACAGCTTTCAATGAGCAAGTGGACAAGTTCTTTCCTCTTATTGAAGTGAACAAGGTATGGCCGTGCTGACTTTAGAACTGACACCGCCTGGGGGTGGAGTGCGGATGAAAAGACGCTGGCCCAGGGGAGGGGTGTGTGGTGGCAGACTAGGGGTTTCTGTCCGATTTGATGGTAGTCTCAGGTTCTGTGGCTTGGCCTCCTTCGCAGGTGTATTATTTCTCGAAAGGCACCCTGAAGATTGCTAACAAGCAGTTCACAGCTGTTAAAAATGACTACGAGATGACCTTCAATAACGAGACTTCCGTCATGCCCTGTGAGGACGACCATCATTTACCTACGGTTCAGTTTGATTTCACGGGGATTGATGACCTCGAGAACAAGTCGAAAGACTCACTTGTAGGTAAGCTCGTGTATGAGAAGGAAGAGCAGGGATGACTAGCTTTCTTTGCAGTGTACGGGGTGGTGTCAGGCTTCAGTGCTTGCCGTTCATCATTTGCTGGCGTCGGAATGGGAGTCTTGACCACCTCCTGCTAACACGTGCATGTGTTTTAGACATCATCGGGATCTGCAAGAGCTATGAAGACGCCACTAAAATCACAGTGAGGTCTAACAACAGAGAAGTTGCCAAGAGGAATATCTACTTGATGGACACATCCGGGAAGGTGGTGACTGCTACACTGTGGGGGGAAGATGTAAGTGCTGGGATGGGGTCTTCAACACGCACAGGACCTCCTGGGGTTGGGGCGTGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGTTGGGGGAGGGAGTGGTCTTATCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCAGGAGTTGGCGGAGGGGGCATCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGTTGAGGGAGGGAGGGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGCTGGCGGAGGGGGCGTCTGTTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGGGTTGGGGGAGGGAGGGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGGGTTGGCGGAGGGGGCGTCTTGTCCTATAGGATGGGGCTGTTAGCACACACAGGAGGAGCTCCTCGTGGGGGCGGTTTTGTCCTATGAGTTGGGGGCTTTCACCATGTAGATGGGAAGGATTGTGCTGTCTGGTAAGTATTTAAAATCCTTTATCTTACTTCTGTGAGATTTGCTGTGATTCAAGCTTTACGCGGGGAAATGCTCTTTCCCCTAACTCTAGGAAAGCAGTGATAGTTTTGATGTGTCTCTGAGTAGATTCTCATGTGTGAGGTCTGTCTTGTATGGATTCCATGTACGCTGATTACATTCACTCTACTATTGAATGTTTGCCTTGTTTTCTATAAAAATCTTCTGTGTTCTTCCTGCTAGTGACACTTGTATATGTCTGGTGTTTCTTTTACAGGCTGATAAATTTGATGGTTCTAGACAGCCCGTGTTGGCTATCAAAGGAGCCCGAGTCTCTGATTTCGGTGGACGGAGCCTCTCCGTGCTGTCTTCAAGCACTATCATTGCGAATCCTGACATCCCAGAGGCCTATAAGCTTCGTGGATGGTAGGTTTTGTGGGGCTAAACAAAGGGTTACTTGAGGCTGGGCTTTGAGAAAAGCTGGTTACAATCAGCATGGGAGCTTTCTGCCAAGCAGAAGCCTTCGTCCCTGAGTGGTGCAGCTTCCGTGTTTCTTGAAGGCATTATGCCTTCTGTGAGGAGGGCTTTAAAGCCCTTAAACGGACAAACCTGTAATCCCAGGACAAACCTAGAGAGTCGGAGGAGGCAATTAGCATGTAAGTGCTGCCTGCTGACCTCGATCCTGCCAAAGGAGGGGACGGCCAGGCTTCAGCAGCGGTGTGCTGAAGGCGCCTTTCTTTCCAGGGTTTAGGCTCTGGGCCTCTGTGGCGTGGGGGAACACATGCTTTCTTTCTCTGTCAAG
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TAAATTTACTTATTTGACAGGAGAATGAGTTAGTATTAAATCACTTTGCATGTTTTACTATTTGCTTATTCTGTAAACTGTCAAACCCATGTGTCATCTTGGGGTTTTAATTAGCTGGATTAAAATACAGGTTGGAAAACGGAATATGCGTAAGACGAGAAAGGCTGTAGGAAGATGATTTCTTACTTGATCTTTTCCAAGGAAGACCCCATACACTAATATGATCGATTTGGTTTGTAGGTGGACCATTTGTGCTCGTGTTACCAACAAAAGTCAGATCCGTACCTGGAGCAACTCCCGAGGGGAAGGGAAGCTTTTCTCCCTAGAACTGGTTGACGAAAGTGTGAGTGTTTGTCATGCTGGGGAGTGAGGGCAGTGGGCTCGCCGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCTGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCCGAGAAACAGAAGGCTCAGCTCTGCGGGCCTATGAGGTGAAGAATAATAGTAGGCCAGAGAGAAGCATGATTGTTATTGTGCTTTTCCCTCTGTCATAGTCTTTTGATGCTGTCTGGAGTAGAGGGTTAAGGTCATAAATAAAATCTTTGATCTTAAATGACAGCGTTTGTAGCAGTAGAAAGTAGTTTTCTAAATATATAAGTAGCCTCCTGGGCAGGAGAAGCTGGAAACAGTCTGATTTGCTGGCAGGTGTACTGGAAGCACTGGGAGGTGATGCCTGCTTGTGAGCGCCGTGGAGCTTTGGGACACAGCAGAAGGCACACAGTTGTGACCTCGATATGGGAGTGGTTTTGTGGGAAATGGGTTCTGACTGTGCAGATTCTCTATTTGCTTTATTTAAACTAAACAAAACCATGACGATGAGACAAAATTCCTATGCCATGGAAGTACGACAGTCTTGATAGCTGTTAATCAGTCCATTCGTTTTGCTAATAATTCCTGAAATTGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAGGGTGCACAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTTTATACTAAAAATACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATCGCCTGAACCAAGGAGGTGGAGGTTGGAGCCAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAATAATAATAATTCCTAAAATGTACTTCAGCATTCTTTTCAAAGTGCTGCAGATTTCCTGTTTGTTCAGACTCCCAAATAGGGAGAAAAAAATAGATGTTTTTTTTGGAAGTTGATATAACACCCAAAATGTTTGTGTGATGGCAGAATCAATATTAGAACCTAATTTTTTTTTAGAAATTATTGCTCTAATGTATGGTGGTTGGCTAAAATTTCTTGTCCACTTGTAAATTTTGGCTGACAGAAAAGCAAAAGTGAAAATCAGATCACAAGCAACTTGCAAACATGACTTACTCTGACATTTTTGGCAATGGCTCCGAATGTGAAGTGGTTTGTCACTGAGAGGGCACTGTGGAGGGAGCCGGTGAATCACCCCGTGGCAGCACCTTCCTCGTGGGCTCTGGGCGTGTCCCTCAGTATTCAACTTTTTTTGTTTTTATTGTCAGAATAAATTAAACTCGTCATTGCCGTTTTGTTCTGTTCTGTTTCTCAGTTGAGGCTAATGCAGCATGATTATGGGATCGGCTAGCTGAAATTCTCATTCTTCAGCGGGGCCAGTGACTTCAGTGTGTGACTGTAAAATGCGGGTTCCTGGGATGTCCGTAGCCCTCTCTGGACCCTGTTTGTGCAAGGGCCACTGCTCTCAAGATGTCACTTTGGTGCTAGGGTGGCCTGTGTTCTATCCCAGTGTCACTTGGGTGCTGGGGTGGCCTGTGTTCAATCCCGCAGCCCTAACCTGCCCACGTGCTTCTGCAGGGTGAAATCCGAGCTACAGCTTTCAATAAGCAAGTGGACAAGTTCTTTCCTCTTATTGAAGTGAACAAGGTATGGCCGTGCTGACTTTAGAACTGACACCGCCTGGGGGTGGAGTGCGGATGAAAAGACGCTGGCCCAGGGGAGGGGTGTGTGGTGGCAGACTAGGGGTTTCTGTCCGATTTGATGGTAGTCTCAGGTTCTGTGGCTTGGCCTCCTTCGCAGGTGTATTATTTCTCGAAAGGCACCCTGAAGATTGCTAACAAGCAGTTCACAGCTGTTAAAAATGACTACGAGATGACCTTCAATAACGAGACTTCCGTCATGCCCTGTGAGGACGACCATCATTTACCTACGGTTCAGTTTGATTTCACGGGGATTGATGACCTCGAGAACAAGTCGAAAGACTCACTTGTAGGTAAGCTCGTGTATGAGAAGGAAGAGCAGGGATGACTAGCTTTCTTTGCAGTGTACGGGGTGGTGTCAGGCTTCAGTGCTTGCCGTTCATCATTTGCTGGCGTCGGAATGGGAGTCTTGACCACCTCCTGCTAACACGTGCATGTGTTTTAGACATCATCGGGATCTGCAAGAGCTATGAAGACGCCACTAAAATCACAGTGAGGTCTAACAACAGAGAAGTTGCCAAGAGGAATATCTACTTGATGGACACATCCGGGAAGGTGGTGACTGCTACACTGTGGGGGGAAGATGTAAGTGCTGGGATGGGGTCTTCAACACGCACAGGACCTCCTGGGGTTGGGGCGTGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGTTGGGGGAGGGAGTGGTCTTATCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCAGGAGTTGGCGGAGGGGGCATCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGTTGAGGGAGGGAGGGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGCTGGCGGAGGGGGCGTCTGTTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGGGTTGGGGGAGGGAGGGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGGGTTGGCGGAGGGGGCGTCTTGTCCTATAGGATGGGGCTGTTAGCACACACAGGAGGAGCTCCTCGTGGGGGCGGTTTTGTCCTATGAGTTGGGGGCTTTCACCATGTAGATGGGAAGGATTGTGCTGTCTGGTAAGTATTTAAAATCCTTTATCTTACTTCTGTGAGATTTGCTGTGATTCAAGCTTTACGCGGGGAAATGCTCTTTCCCCTAACTCTAGGAAAGCAGTGATAGTTTTGATGTGTCTCTGAGTAGATTCTCATGTGTGAGGTCTGTCTTGTATGGATTCCATGTACGCTGATTACATTCACTCTACTATTGAATGTTTGCCTTGTTTTCTATAAAAATCTTCTGTGTTCTTCCTGCTAGTGACACTTGTATATGTCTGGTGTTTCTTTTACAGGCTGATAAATTTGATGGTTCTAGACAGCCCGTGTTGGCTATCAAAGGAGCCCGAGTCTCTGATTTCGGTGGACGGAGCCTCTCCGTGCTGTCTTCAAGCACTATCATTGCGAATCCTGACATCCCAGAGGCCTATAAGCTTCGTGGATGGTAGGTTTTGTGGGGCTAAACAAAGGGTTACTTGAGGCTGGGCTTTGAGAAAAGCTGGTTACAATCAGCATGGGAGCTTTCTGCCAAGCAGAAGCCTTCGTCCCTGAGTGGTGCAGCTTCCGTGTTTCTTGAAGGCATTATGCCTTCTGTGAGGAGGGCTTTAAAGCCCTTAAACGGACAAACCTGTAATCCCAGGACAAACCTAGAGAGTCGGAGGAGGCAATTAGCATGTAAGTGCTGCCTGCTGACCTCGATCCTGCCAAAGGAGGGGACGGCCAGGCTTCAGCAGCGGTGTGCTGAAGGCGCCTTTCTTTCCAGGGTTTAGGCTCTGGGCCTCTGTGGCGTGGGGGAACACATGCTTTCTTTCTCTGTCAAG
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Task1_train_23182
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A mutation on Chromosome 17 affecting DPH1 (diphthamide biosynthesis 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
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CCTGCTGCCACCCTCCCTCCCCTGCTCCCCCAAACCTCTCTTCTCCCCCCTTCCCCTCCCCTGCTCCCCCTCTCTCCCCTCCCCTTCCCCCTCCCCTGCTCCCCCTCCCCTCCCCTGCTCCCCATCCCCCTCCCCAGTTTCCCCATCCCCTCCCCTGCTGCCCCATTCCCCTCCCCTACTCCCCCTTCCCCCTCCCCTGCTCCCCCCTCCCCTGCTGCCCCCTCCCCTCCTCCCCCACTCCCCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCTCCCTCCCCTGCTGCCCCATCTTGTTGCCACAGACTCACTTCCCTGCTCCCACCGTCTTGCCCCTTGGGGATGCTCTCTGGGGCTCAGGCCAATTTGCATACATTTTAATCTATAAAAAATTAAGTGCTGTGGCTGACTTAGACGCCTGGGCTGCATTCTAAGGAGGTGAATAATCTGCTTCTGGGCACAGCCTGATTTGGGGAAGGGGGTGGAGGAGGGGGTGACTAGCAGGAGCTCAACTCTTCCACTGCCACACCCCCAGGGGAAGGATGGGGGGACCCCAGTCACTGAGCCAGGCTCCACGCCCCAAGTGTGAGTCTCTTTCAAGGAAGAGGGGGTTCTCCTCCATTCCTAGGGTGAGTTCAGGGGTACAAGGTCTTCCCCACCCACCCCCTCCCCCAGTGATTCAGGCCTGGCAGCAGTTCCCACGGCAGTGTTCTGGCCAGAGCCTCCTCTTCCTGATGCAGGAGGCGTGTAGGTGGTGCCATGTGCTATGGGGGAGCTGTGCCTGGGTCCCCCCATCCTGGGCACCAAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGGAGTGGGGGTCCCGGCAAGAGGGAGGCTGTGTGTATTCATACAGCCACGCCCATGCCCACCACAGCACTCAGCGCGGGAGTGAGGACCTTTGGGTGTGTGTGCGTGCTCACGGCTCTGGGTGGGTGAGTCAGGGCATGGGGCGTCTGTGTTTTGACCCCACGTGTGCCGGAGTGAGGGTTGGGGTCCCTCCTGCAGCCTGAGCCTGGGTAGAGGAATGAGGGTCCTCACGCAGCAACAGTTCCAGGAGCGGCTGCCAGGCTGGGGCAGGCGGCAGCTGTGCCCCTCCTAATCTTTGTTGGCAGAAGTGGCAGCTGCCATCCCGAGGAACTGGGAGAGGTAGGGAGAGAGGAGCTGGGCCCTGAGACACCCTCCCAGGGTTGGGTCTCTCCTACCTCAGTCCCTGTGTCCCTGTCCCACCGTTCCCCGCCCCTGTGCCCGCAGGTTCACGGAGGCCGAAGTGATGGTGATGGGTGACGTGACCTACGGGGCTTGCTGTGTGGATGACTTCACAGCGAGGGCCCTGGGAGCTGACTTCTTGGTGCACTACGGCCACAGTTGCCTGAGTATGGTGGGGCCAGGACACCTGGACGGTGGCGGGGCTGGCAGGGAGGCAGGCTGCACATTCATCTTCCCCATGGCAGTGCCTTCTTGTCCTGCTTGGAGACACAAGGTCCCTCCTGGTTTCTGGGGTGGCCTCTGCCTTCCCGCTCTGCAGGTAGATCTTTCCTTTGGATTTGGTTGCCTTGGCAACGGTGCTCTGTCCCAGATGCAGGTGTTTGAAAGGCTGTTGGTTGTAGAGCAGGCTGGGCCCCGGCCGGGTGACAGAGAAGTCTGATTGAGAAGGAGCTTCTAGGGGATCTGTGACCCCCCTCTTCTCCTACCCTGTCCTTTTACCCCCAGGCTGAAGCCACTGCGCCTGGCTGCTCAGAGACCTGAGCCTGGCCGGGCCCTCTGCTGCTCCTGCCTTCCCAAACAGCCCCTGAACTCCTCCCTCCCACAGTTCCCATGGACACCTCGGCCCAAGACTTCCGGGTGCTGTACGTCTTTGTGGACATCCGGATAGACACTACACACCTCCTGGACTCTCTCCGCCTCACCTTTCCCCCAGCCACTGCCCTTGCCCTGGTCAGCACCATTCAGTTTGTGTCGACCTTGCAGGTGGGTGGAACGAGGATCCTCGGCCTCCTGCAGGGTGGACAGCGGCCACTCTCCAGCTGTTGCGGGATCCCCAGGTGCTCCAGGCTGTTTCTCAGCCCTGGCTCTCCTGCCCCAGCCGCTGGCTTCACTTCCCTCGTCATTCCTACAGGCAGCCGCCCAGGAGCTGAAAGCCGAGTATCGTGTGAGTGTCCCACAGTGCAAGCCCCTGTCCCCTGGAGAGATCCTGGGCTGCACATCCCCCCGACTGTCCAAAGAGGTGGAGGCCGTTGTGTAAGTTAAAAATGGGGGCCAAGTAAGTCCTAGAGACATGCGTGTACCCTGGGAGGGAGCCTGAGGTTCATCATCCAGGAAAGAAACCAAATCTAATGCTCCTTACCTGTGAGCCCGAGGTCACACTGCAAGGTAGGGACCAAACAGGGAGCAGACCTCAGGTTTACTGTCGCTTTCTCCACTGCCCAGTCCATCATCCAGAAGGCTGTGCAGGGTGGGGGCAGGAATCAGAGGGCCTGATGGGGGTTGAGGGTGGGCTGGAAATGGTGGGAATATAATTGGAGAAGATGGATGGGCACGCCCAGGCTGCAGCCCCATTAATTTACCATCCGGACAGCTAACAAGCAGAAGCAGCGTGTCTCCTGCCGCCTAATTATTTTAGGTAATGGAAATGCTTAATGTTGTGTGAATGCAGCCAGCCTGAGAGCCGACGGCTCCCCCGACTGGGACTAGGGAAGGGAGTCCCGTTCCGTACTAATGGCAGGGAGGGAGGGTCGCTCCCTGACTCAGTCCCACCTCTGGGGCTTTGGAGGCTGTTTCCACAGGCCTGACACCCCTGTCCCTAGACAGGCCCACATCAGGGCCTTCCCCAGCCCAGATCTGGCAGCCCTGCTCCCCGAGCAGCACTGAGTGGCATTCCCCCTGTGCCCACGTCACTCAGTCTCTACCCTTGGGGTCTTCAAAGTGTATGTTGGAGGGAGGGACACCCTGAGTGTTAGCCATTCATCAGAATGAAGTGTGGTCTCCAAGAGGGAGAGAAGGAGCTGCCACAGGCAGGTTATCTTCCACGCTCTGTAATCTTCATGGGCTGGGAAGCTACTGTCAGGGACAGCATGTCTGGGGGCACACTTGGTACAGCCTGGGTTGAGCCTCAGACACACTGCTTCCTAGCTGTTTAATACTAGGCGAGTTTCTTAACATCCCTGAGCCTCAGTTGTTACCTTCTGTAAAACAGGTATACTATACGTATCTGGGAGGATTAGGAGATAGGACTGCGTGAACTAATTCACAGCAGGTACTTAGTCTATGCCTGGTACACAGAAGGCACAAGTCCAATAAACAGTAGCTGTTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGCAGGAGAATTGCATATGTCCAGGAGTTTGAGACCAGCTTGGGGAATATAATGAAACCCTGTTCTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTAGCTGGGTACAGTGTCCATGCCTGTAGTCCCAGCTCCTCAGGAGGCTTAGGTGAGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGCGAGCCATGACCGAGTCACTCAACCTGGGTGACAGAGTAAGACCCTGCCTCAAAAAAACAAAATGAAAATCCGGTAGCTTTTGTTATAACTCAGTAACTGGCCCCAAGAGCTAGTTTGGGCAGAAAGTAGCCATTGTATGCCCTGCAACCTCATGTACAGCATAGATCAGAGGTCCCCAACCCCTGGTCCCATGTCCTGTTAGGAAACCTGCCGCACAGTAGAAGGTGAGGGGTGGGCCAGCCAGCGTGACCACCTGAGCTCCGCCTCCTGTCAGATCCGCCGCGGCATTAGATTCTTGTAGGAGCTCAAACCCTATCGTGACCTGTACATGCGAGGGATCTAGGTTGCATGATCTTTATGAGATCCTAATGCCTGATGATCTG
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CCTGCTGCCACCCTCCCTCCCCTGCTCCCCCAAACCTCTCTTCTCCCCCCTTCCCCTCCCCTGCTCCCCCTCTCTCCCCTCCCCTTCCCCCTCCCCTGCTCCCCCTCCCCTCCCCTGCTCCCCATCCCCCTCCCCAGTTTCCCCATCCCCTCCCCTGCTGCCCCATTCCCCTCCCCTACTCCCCCTTCCCCCTCCCCTGCTCCCCCCTCCCCTGCTGCCCCCTCCCCTCCTCCCCCACTCCCCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCTCCCTCCCCTGCTGCCCCATCTTGTTGCCACAGACTCACTTCCCTGCTCCCACCGTCTTGCCCCTTGGGGATGCTCTCTGGGGCTCAGGCCAATTTGCATACATTTTAATCTATAAAAAATTAAGTGCTGTGGCTGACTTAGACGCCTGGGCTGCATTCTAAGGAGGTGAATAATCTGCTTCTGGGCACAGCCTGATTTGGGGAAGGGGGTGGAGGAGGGGGTGACTAGCAGGAGCTCAACTCTTCCACTGCCACACCCCCAGGGGAAGGATGGGGGGACCCCAGTCACTGAGCCAGGCTCCACGCCCCAAGTGTGAGTCTCTTTCAAGGAAGAGGGGGTTCTCCTCCATTCCTAGGGTGAGTTCAGGGGTACAAGGTCTTCCCCACCCACCCCCTCCCCCAGTGATTCAGGCCTGGCAGCAGTTCCCACGGCAGTGTTCTGGCCAGAGCCTCCTCTTCCTGATGCAGGAGGCGTGTAGGTGGTGCCATGTGCTATGGGGGAGCTGTGCCTGGGTCCCCCCATCCTGGGCACCAAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGGAGTGGGGGTCCCGGCAAGAGGGAGGCTGTGTGTATTCATACAGCCACGCCCATGCCCACCACAGCACTCAGCGCGGGAGTGAGGACCTTTGGGTGTGTGTGCGTGCTCACGGCTCTGGGTGGGTGAGTCAGGGCATGGGGCGTCTGTGTTTTGACCCCACGTGTGCCGGAGTGAGGGTTGGGGTCCCTCCTGCAGCCTGAGCCTGGGTAGAGGAATGAGGGTCCTCACGCAGCAACAGTTCCAGGAGCGGCTGCCAGGCTGGGGCAGGCGGCAGCTGTGCCCCTCCTAATCTTTGTTGGCAGAAGTGGCAGCTGCCATCCCGAGGAACTGGGAGAGGTAGGGAGAGAGGAGCTGGGCCCTGAGACACCCTCCCAGGGTTGGGTCTCTCCTACCTCAGTCCCTGTGTCCCTGTCCCACCGTTCCCCGCCCCTGTGCCCGCAGGTTCACGGAGGCCGAAGTGATGGTGATGGGTGACGTGACCTACGGGGCTTGCTGTGTGGATGACTTCACAGCGAGGGCCCTGGGAGCTGACTTCTTGGTGCACTACGGCCACAGTTGCCTGAGTATGGTGGGGCCAGGACACCTGGACGGTGGCGGGGCTGGCAGGGAGGCAGGCTGCACATTCATCTTCCCCATGGCAGTGCCTTCTTGTCCTGCTTGGAGACACAAGGTCCCTCCTGGTTTCTGGGGTGGCCTCTGCCTTCCCGCTCTGCAGGTAGATCTTTCCTTTGGATTTGGTTGCCTTGGCAACGGTGCTCTGTCCCAGATGCAGGTGTTTGAAAGGCTGTTGGTTGTAGAGCAGGCTGGGCCCCGGCCGGGTGACAGAGAAGTCTGATTGAGAAGGAGCTTCTAGGGGATCTGTGACCCCCCTCTTCTCCTACCCTGTCCTTTTACCCCCAGGCTGAAGCCACTGCGCCTGGCTGCTCAGAGACCTGAGCCTGGCCGGGCCCTCTGCTGCTCCTGCCTTCCCAAACAGCCCCTGAACTCCTCCCTCCCACAGTTCCCATGGACACCTCGGCCCAAGACTTCCGGGTGCTGTACGTCTTTGTGGACATCCGGATAGACACTACACACCCCCTGGACTCTCTCCGCCTCACCTTTCCCCCAGCCACTGCCCTTGCCCTGGTCAGCACCATTCAGTTTGTGTCGACCTTGCAGGTGGGTGGAACGAGGATCCTCGGCCTCCTGCAGGGTGGACAGCGGCCACTCTCCAGCTGTTGCGGGATCCCCAGGTGCTCCAGGCTGTTTCTCAGCCCTGGCTCTCCTGCCCCAGCCGCTGGCTTCACTTCCCTCGTCATTCCTACAGGCAGCCGCCCAGGAGCTGAAAGCCGAGTATCGTGTGAGTGTCCCACAGTGCAAGCCCCTGTCCCCTGGAGAGATCCTGGGCTGCACATCCCCCCGACTGTCCAAAGAGGTGGAGGCCGTTGTGTAAGTTAAAAATGGGGGCCAAGTAAGTCCTAGAGACATGCGTGTACCCTGGGAGGGAGCCTGAGGTTCATCATCCAGGAAAGAAACCAAATCTAATGCTCCTTACCTGTGAGCCCGAGGTCACACTGCAAGGTAGGGACCAAACAGGGAGCAGACCTCAGGTTTACTGTCGCTTTCTCCACTGCCCAGTCCATCATCCAGAAGGCTGTGCAGGGTGGGGGCAGGAATCAGAGGGCCTGATGGGGGTTGAGGGTGGGCTGGAAATGGTGGGAATATAATTGGAGAAGATGGATGGGCACGCCCAGGCTGCAGCCCCATTAATTTACCATCCGGACAGCTAACAAGCAGAAGCAGCGTGTCTCCTGCCGCCTAATTATTTTAGGTAATGGAAATGCTTAATGTTGTGTGAATGCAGCCAGCCTGAGAGCCGACGGCTCCCCCGACTGGGACTAGGGAAGGGAGTCCCGTTCCGTACTAATGGCAGGGAGGGAGGGTCGCTCCCTGACTCAGTCCCACCTCTGGGGCTTTGGAGGCTGTTTCCACAGGCCTGACACCCCTGTCCCTAGACAGGCCCACATCAGGGCCTTCCCCAGCCCAGATCTGGCAGCCCTGCTCCCCGAGCAGCACTGAGTGGCATTCCCCCTGTGCCCACGTCACTCAGTCTCTACCCTTGGGGTCTTCAAAGTGTATGTTGGAGGGAGGGACACCCTGAGTGTTAGCCATTCATCAGAATGAAGTGTGGTCTCCAAGAGGGAGAGAAGGAGCTGCCACAGGCAGGTTATCTTCCACGCTCTGTAATCTTCATGGGCTGGGAAGCTACTGTCAGGGACAGCATGTCTGGGGGCACACTTGGTACAGCCTGGGTTGAGCCTCAGACACACTGCTTCCTAGCTGTTTAATACTAGGCGAGTTTCTTAACATCCCTGAGCCTCAGTTGTTACCTTCTGTAAAACAGGTATACTATACGTATCTGGGAGGATTAGGAGATAGGACTGCGTGAACTAATTCACAGCAGGTACTTAGTCTATGCCTGGTACACAGAAGGCACAAGTCCAATAAACAGTAGCTGTTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGCAGGAGAATTGCATATGTCCAGGAGTTTGAGACCAGCTTGGGGAATATAATGAAACCCTGTTCTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTAGCTGGGTACAGTGTCCATGCCTGTAGTCCCAGCTCCTCAGGAGGCTTAGGTGAGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGCGAGCCATGACCGAGTCACTCAACCTGGGTGACAGAGTAAGACCCTGCCTCAAAAAAACAAAATGAAAATCCGGTAGCTTTTGTTATAACTCAGTAACTGGCCCCAAGAGCTAGTTTGGGCAGAAAGTAGCCATTGTATGCCCTGCAACCTCATGTACAGCATAGATCAGAGGTCCCCAACCCCTGGTCCCATGTCCTGTTAGGAAACCTGCCGCACAGTAGAAGGTGAGGGGTGGGCCAGCCAGCGTGACCACCTGAGCTCCGCCTCCTGTCAGATCCGCCGCGGCATTAGATTCTTGTAGGAGCTCAAACCCTATCGTGACCTGTACATGCGAGGGATCTAGGTTGCATGATCTTTATGAGATCCTAATGCCTGATGATCTG
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Task1_train_23183
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A variant on Chromosome 17 in gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Lissencephaly due to LIS1 mutation
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TCTCAGAATTTAGATGGAGTGATAGTGATGGCTTTCAGCTATCATTTGTAGTTAGCTGGGCTCCAGGTCAGAAGAATCCTTAAGGATTATAAAATAAATTCCTGCTTATATTTACTAGAATTGTTCTTCAGATAAGGATCTCTAATGAAATAGCAGTTGCCATAGCGAGCACCTGAGCTGTCACTTTTTCACTCAGGGCTCATGTTCGTTTTTCGTTTGTTTGTTTTTGAGACGGACTCTTCCTCTGTTGCCCAGACTGGAGTACAGTAGCATGTTGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTTCTCGCAAATTTTTGTATTTTTAGTAGAGACGAGATTTCACCGTGTTGGCCAGGCTGGTCGCAAACTCCTCACCTCAAGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTAGGTTTGCAGACATAAGCCACCACGCCTGGCCTCAGGGCTCATATTTGAAACCCGAAGGTATGCATTTTTTTTTCCTTTAAAAGAAATTGGGTCTCGCTTTGTCACCTAGGCTGGAGTGCAATGGCATGATCGTAGCTTTCCATAACCTTGAACTCTTGGGTAGCAAGCATTCCTCCTGCCTTAGCTTCTCAAGTAAGCATGCACCATCACACCTACCTAATTTTTAAAATTTTCTGTAGAGACGGGGTCTCCTGTGTTTCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCTTGCCTTAACCTCCCAAAGTACTAGGATTAATTACATATGTGAGCCACCACACCCCGCCTCTCATTCTTCTTTCTTCACTGGCTTATTCATTACTGTATTCTCAGTGCCTGGAGCAGTGACTGGAATGGCATTTGAAAGGTACTCAGGAAATGGTCCTTAACTCTTCTGTCCATGATAGGTTTCTAGATTGGTTGTCCCACAGGATCTTCATTATATGTTAATTTCATATCATTTGGAGGATGATTTTTTTATTGCTTTGAATTGCCTCTTCCAATCAAATTTTATATATACCAGTAGCCTCTATTTTAAGTAAGACCATCTCAAATACATTTCTTAATTAGGTACATTGGTTAAGAGAGCATAAGATTCCAGCACTTTGGGAGACTGAGGCAGGAGGATCCCATGAATACAGGAGTTTGAGACCAGCAATGTAGGGAGACCTGTCTCTACAAAAAAAAAATTTAAGAATTAGCTGGGCATGGTGGTGTGTGCCTGTCGTCCCAGCTGCTTGGGAAGCTGAGGTGGGAGGATCGCTTAAGCCCAGAGGGGGAAGGCTGCAATAAGCTGTGATCATGCCACTGCACTCCAACCTGTGTGAGAACCTGTCTCCAAAAAAACAATAAAAAGCGTAAGATTGCTAAGTAGTGTATGTTATAAATACCGGCCATTCTAAGGTTATTGGTGACTAACACTCAACCTTGAAGGTTACTTCAGTTATAGTTGGCACTGTTCGGCTTGTGCAGTTCATGAAACCCTTATCTGTTTTACCTTTTATACCTTTTTTGTAAATTTGAAATTTTACTTTTTGTCTCTAAGAGAGAATTACATTCGTTTAGAGTTACATGTTAATATTTGAAATCAAATGTATCTGGCAGGTTAACATGATTGGGAGTGGGTAAATGTATGTTAAATTTAAAAGTAATGCTGTTTTGGCTCATTGAATTATTAATTTAAAAGACAAAACAGTATGGTTTTTGACATTAGTTGACTTTCACTATAAGTGGAAAATCATCATCTAATATTTATACTAACATCACAATAAAATTTATCTTTGAAAATGAGTACTGTAACTAATAATTTAGAAATAAATTTTAAGTGAAATAATCTTTTTTTTTCTTCTCTTTCTCCTTAGGTGGAATGAATCTTACTTGTTGAATATCTTCTGGTTACTAGTTGGATTCATTTGTGAAAGAATCATTTTCCCCTGTGTGGAAGACACTTAGTGGCATATTTAAATTATAAGTCCACGGATCAAAAAGCTTTTTGATTTCCCAAAGGAGGGACATACCACTATATCAGATAAGCTTGACATTACAGCCAAGATGGTGCTGTCCCAGAGACAACGAGATGAACTGTAAGTTTCTTTGTTTTGTGCTTTAAAAAAAATCTCCCTCATGAGAGAGAAAGTAGTAAATTAAAATACAGCTTTGGGAGGTCTCTTCTAAGATTAAAACTATTTTTACCAGTGTTCCAATATTAGTTTAGGCAGTTTGGTCTGATTTTAAAACAGTCTTATTATGATATAGCATTATTTTTAAAATTTATTTATTCTTTCTGAGAAGGAGTTTTTCGCTTTTGTCACCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTTCAACCTCCGCCTCCCAGGTTCAAGCTATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCTACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTCACCATCTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTTTGCCCGGCCGTGATACAGCATTATTCACCCTTGTGACTTGACTGTATGTAAGTTTAACGCAAAACAGACAAGTCAGTTGGGATGAGTTTTACCCTAAGCTTATTTTTATTTTTATTTTTGAGATGGACTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTTCTGCCTCAACCTCCCGAGTAGCTGAGACTACAGGTGACCGTCAACACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCTAAGCTTATCTTTTAAAATATTATGTTCAATAGGAAGTTAGGTGCTTCATAGCTCCTCTAAACCTTTTTTTGGTGTGGAATCTGTGCATTAGAAAAATGAAAGCTGTTTTGTTCTTGTTATCACTGATGTCTTTCCTTTGCCTTGTTGTGTTTCTTTTATCTTCCAATGGCCATTACAGAATTTGAAGAATTTGAACTTTATGAGGTAGCTAATAAAATAATTAATGCAGATGCTTTAATGAGAGAGGTGTGAAATGGTTTGACCTCTTCTGTTTTAGAGTATTTTATAGCATTCCATTTTTATAGGTGAAGAACATAGGGGGATTTTCCACTCCCCCGCTTCACCTGACTAGCTTTAAAAACATAAAAACAAAACGGGAAAATGTAGCTTTATGTTCTACTTCTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCTTCCAGGGTTCAACCAATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACTGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAAGGGTTTCACCATCTTTGCCAGGCTGGTCTCTAACTCCTGACTTCGTGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTATGTTCTATATTTTTACAATTAAAAAAAAAATTTTGTGGCTTTTCAACAATTTTTATTTGGAAGTAATTTCAAATTTATAAAGTTGCAAGATTAGCACAAAGCATACTAATGTTTTTTGAAATACACCCATTGTTAACATTTTGTACCATTTGCTTTATCATTTGCACTCTGTGTGTTGGGGGTCTGTGTGTGCAGTATGCAATAGGTTTTTCTTAAACCATGTTAGAGTAAGTTGCATATATCAAAGAAATACCTTTTCCCACAAATAAACTTAAGTAGTTCCCCAAAATAAGGATATTCTATAAAACCATAGTATAGCTAGCAGTTTTATTAAATTTAACCTTCCATATTCCAGTTTTATCAGTTGATTCCATAATGTCCTTTGTGGCACTTTGTTACTCTCGTACATCATCCCATCCAGGATCAGGTATTTCATTTAGCCCTCATGTGTCTTCA
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TCTCAGAATTTAGATGGAGTGATAGTGATGGCTTTCAGCTATCATTTGTAGTTAGCTGGGCTCCAGGTCAGAAGAATCCTTAAGGATTATAAAATAAATTCCTGCTTATATTTACTAGAATTGTTCTTCAGATAAGGATCTCTAATGAAATAGCAGTTGCCATAGCGAGCACCTGAGCTGTCACTTTTTCACTCAGGGCTCATGTTCGTTTTTCGTTTGTTTGTTTTTGAGACGGACTCTTCCTCTGTTGCCCAGACTGGAGTACAGTAGCATGTTGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTTCTCGCAAATTTTTGTATTTTTAGTAGAGACGAGATTTCACCGTGTTGGCCAGGCTGGTCGCAAACTCCTCACCTCAAGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTAGGTTTGCAGACATAAGCCACCACGCCTGGCCTCAGGGCTCATATTTGAAACCCGAAGGTATGCATTTTTTTTTCCTTTAAAAGAAATTGGGTCTCGCTTTGTCACCTAGGCTGGAGTGCAATGGCATGATCGTAGCTTTCCATAACCTTGAACTCTTGGGTAGCAAGCATTCCTCCTGCCTTAGCTTCTCAAGTAAGCATGCACCATCACACCTACCTAATTTTTAAAATTTTCTGTAGAGACGGGGTCTCCTGTGTTTCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCTTGCCTTAACCTCCCAAAGTACTAGGATTAATTACATATGTGAGCCACCACACCCCGCCTCTCATTCTTCTTTCTTCACTGGCTTATTCATTACTGTATTCTCAGTGCCTGGAGCAGTGACTGGAATGGCATTTGAAAGGTACTCAGGAAATGGTCCTTAACTCTTCTGTCCATGATAGGTTTCTAGATTGGTTGTCCCACAGGATCTTCATTATATGTTAATTTCATATCATTTGGAGGATGATTTTTTTATTGCTTTGAATTGCCTCTTCCAATCAAATTTTATATATACCAGTAGCCTCTATTTTAAGTAAGACCATCTCAAATACATTTCTTAATTAGGTACATTGGTTAAGAGAGCATAAGATTCCAGCACTTTGGGAGACTGAGGCAGGAGGATCCCATGAATACAGGAGTTTGAGACCAGCAATGTAGGGAGACCTGTCTCTACAAAAAAAAAATTTAAGAATTAGCTGGGCATGGTGGTGTGTGCCTGTCGTCCCAGCTGCTTGGGAAGCTGAGGTGGGAGGATCGCTTAAGCCCAGAGGGGGAAGGCTGCAATAAGCTGTGATCATGCCACTGCACTCCAACCTGTGTGAGAACCTGTCTCCAAAAAAACAATAAAAAGCGTAAGATTGCTAAGTAGTGTATGTTATAAATACCGGCCATTCTAAGGTTATTGGTGACTAACACTCAACCTTGAAGGTTACTTCAGTTATAGTTGGCACTGTTCGGCTTGTGCAGTTCATGAAACCCTTATCTGTTTTACCTTTTATACCTTTTTTGTAAATTTGAAATTTTACTTTTTGTCTCTAAGAGAGAATTACATTCGTTTAGAGTTACATGTTAATATTTGAAATCAAATGTATCTGGCAGGTTAACATGATTGGGAGTGGGTAAATGTATGTTAAATTTAAAAGTAATGCTGTTTTGGCTCATTGAATTATTAATTTAAAAGACAAAACAGTATGGTTTTTGACATTAGTTGACTTTCACTATAAGTGGAAAATCATCATCTAATATTTATACTAACATCACAATAAAATTTATCTTTGAAAATGAGTACTGTAACTAATAATTTAGAAATAAATTTTAAGTGAAATAATCTTTTTTTTTCTTCTCTTTCTCCTTAGGTGGAATGAATCTTACTTGTTGAATATCTTCTGGTTACTAGTTGGATTCATTTGTGAAAGAATCATTTTCCCCTGTGTGGAAGACACTTAGTGGCATATTTAAATTATAAGTCCACGGATCAAAAAGCTTTTTGATTTCCCAAAGGAGGGACATACCACTATATCAGATAAGCTTGACATTACAGCCAAGATAGTGCTGTCCCAGAGACAACGAGATGAACTGTAAGTTTCTTTGTTTTGTGCTTTAAAAAAAATCTCCCTCATGAGAGAGAAAGTAGTAAATTAAAATACAGCTTTGGGAGGTCTCTTCTAAGATTAAAACTATTTTTACCAGTGTTCCAATATTAGTTTAGGCAGTTTGGTCTGATTTTAAAACAGTCTTATTATGATATAGCATTATTTTTAAAATTTATTTATTCTTTCTGAGAAGGAGTTTTTCGCTTTTGTCACCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTTCAACCTCCGCCTCCCAGGTTCAAGCTATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCTACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTCACCATCTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTTTGCCCGGCCGTGATACAGCATTATTCACCCTTGTGACTTGACTGTATGTAAGTTTAACGCAAAACAGACAAGTCAGTTGGGATGAGTTTTACCCTAAGCTTATTTTTATTTTTATTTTTGAGATGGACTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTTCTGCCTCAACCTCCCGAGTAGCTGAGACTACAGGTGACCGTCAACACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCTAAGCTTATCTTTTAAAATATTATGTTCAATAGGAAGTTAGGTGCTTCATAGCTCCTCTAAACCTTTTTTTGGTGTGGAATCTGTGCATTAGAAAAATGAAAGCTGTTTTGTTCTTGTTATCACTGATGTCTTTCCTTTGCCTTGTTGTGTTTCTTTTATCTTCCAATGGCCATTACAGAATTTGAAGAATTTGAACTTTATGAGGTAGCTAATAAAATAATTAATGCAGATGCTTTAATGAGAGAGGTGTGAAATGGTTTGACCTCTTCTGTTTTAGAGTATTTTATAGCATTCCATTTTTATAGGTGAAGAACATAGGGGGATTTTCCACTCCCCCGCTTCACCTGACTAGCTTTAAAAACATAAAAACAAAACGGGAAAATGTAGCTTTATGTTCTACTTCTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCTTCCAGGGTTCAACCAATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACTGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAAGGGTTTCACCATCTTTGCCAGGCTGGTCTCTAACTCCTGACTTCGTGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTATGTTCTATATTTTTACAATTAAAAAAAAAATTTTGTGGCTTTTCAACAATTTTTATTTGGAAGTAATTTCAAATTTATAAAGTTGCAAGATTAGCACAAAGCATACTAATGTTTTTTGAAATACACCCATTGTTAACATTTTGTACCATTTGCTTTATCATTTGCACTCTGTGTGTTGGGGGTCTGTGTGTGCAGTATGCAATAGGTTTTTCTTAAACCATGTTAGAGTAAGTTGCATATATCAAAGAAATACCTTTTCCCACAAATAAACTTAAGTAGTTCCCCAAAATAAGGATATTCTATAAAACCATAGTATAGCTAGCAGTTTTATTAAATTTAACCTTCCATATTCCAGTTTTATCAGTTGATTCCATAATGTCCTTTGTGGCACTTTGTTACTCTCGTACATCATCCCATCCAGGATCAGGTATTTCATTTAGCCCTCATGTGTCTTCA
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Task1_train_23184
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This variant lies on Chromosome 17 and affects the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Lissencephaly due to LIS1 mutation
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TAGGCTGTTAGAACCAAGAGTTTTGTGGGTTTTTGTTTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCAGGGCATCAAAGGTGGTAGTGCTAAAATTCTCTGGATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTGCGTCAGTCTTCCAAGTAGCTGGGACTACAGGCGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCCGACCTCGTGATGCGCCCACCTCGGGCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCTCCCAGCCTCTGGTCTTGAACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAAT
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TAGGCTGTTAGAACCAAGAGTTTTGTGGGTTTTTGTTTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCAGGGCATCAAAGGTGGTAGTGCTAAAATTCTCTGGATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTGCGTCAGTCTTCCAAGTAGCTGGGACTACAGGCGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCCGACCTCGTGATGCGCCCACCTCGGGCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCTCCCAGCCTCTGGTCTTGAACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCGTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAAT
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Task1_train_23185
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Located on Chromosome 17, this mutation impacts PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Lissencephaly due to LIS1 mutation
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TTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCAGGGCATCAAAGGTGGTAGTGCTAAAATTCTCTGGATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTGCGTCAGTCTTCCAAGTAGCTGGGACTACAGGCGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCCGACCTCGTGATGCGCCCACCTCGGGCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCTCCCAGCCTCTGGTCTTGAACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGG
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TTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCAGGGCATCAAAGGTGGTAGTGCTAAAATTCTCTGGATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTGCGTCAGTCTTCCAAGTAGCTGGGACTACAGGCGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCCGACCTCGTGATGCGCCCACCTCGGGCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCTCCCAGCCTCTGGTCTTGAACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTCTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGG
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Task1_train_23186
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This is a variant in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Lissencephaly due to LIS1 mutation
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AGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGC
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AGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAACGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGC
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Task1_train_23187
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A variant was discovered on Chromosome 17, affecting PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Abnormal cortical gyration
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TTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAA
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TTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTAAGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAA
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Task1_train_23188
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A variant affecting Chromosome 17, within the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Lissencephaly due to LIS1 mutation
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TCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAA
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TCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGACTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAA
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Task1_train_23189
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A variant has been detected on Chromosome 17 in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Lissencephaly due to LIS1 mutation
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AAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGT
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AAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGTTGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGT
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Task1_train_23190
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A variant affecting Chromosome 17, within the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Lissencephaly due to LIS1 mutation
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CACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATG
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CACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTCTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATG
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Task1_train_23191
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This variant lies on Chromosome 17 and affects the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
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CTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGC
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CTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACGTACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGC
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Task1_train_23192
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The following genetic variant occurs in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Lissencephaly due to LIS1 mutation
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GCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAA
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GCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCAGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAA
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Task1_train_23193
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A mutation in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Subcortical band heterotopia
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GAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGT
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GAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTCCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGT
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Task1_train_23194
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The gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Lissencephaly due to LIS1 mutation
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GTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACG
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GTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGAGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACG
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Task1_train_23195
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A mutation in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Lissencephaly due to LIS1 mutation
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GCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATC
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GCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCCTGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATC
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Task1_train_23196
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This variant lies on Chromosome 17 and affects the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Lissencephaly due to LIS1 mutation
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GGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATCTACTTGGGAGG
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GGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAACGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATCTACTTGGGAGG
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Task1_train_23197
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This alteration occurs within gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; Lissencephaly due to LIS1 mutation
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GTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATCTACTTGGGAGGCTGAGGCAGGAGATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGACCCAAGATTGCACCACGGTACTCCAGCCTGGGTGACAGAGCCAGACTCCGTCTGAAAACAAACAAAAAACCAAAATGCAACAAAAAAATTGGAAATATATATCATTATTAGATAGAAGCCATTTAAAGTCCATACCTAACTTCTTGTGTGGGAAACTTAATTTTTATTATGTTTTCTGTAGACTAAAAAAAGTGGTAAACCTGGGCCATTCTTGCTGTCTGGATCCAGAGACAAGACTATTAAGATGTGGGATGTCAGTACTGGCATGTGCCTTATGACCCTCGTAAGTTTGCATAATCTTACCATTTCTTTTGCATCTTCACTGTTTATACCTTTTTGGATTAATGCTTTATGATATCTTAAATAATCTGAATTATTCTGGGCTTTAAAATAACTTCTTTATAAAGATAGTTTTCCTTTAGCTTTTGTTGTTGTTATAGTGATGTGAAAGTTATTTCTCTAGAATGCAGATTCTATAAAGAATCTGTAGAGCCAGTCGGTGTTTGAGGGGGAGATGCTGCTAGCTCACTGTATCTTTAAAAATTGTGTAATATCTCGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGCTAACTTGGGGAAATCCCGTCTCTACCAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAATAAAATAAAACAAATGTGTAATATCTCTTACGGAGAAAAAGCAGCATTCTTAGAGACCTGTTCACTGTTGAAGATGTTTGTTTCTCTGTTTCACTTTATTTATATGAATCCTTTTAACTGTTATACCTCCTTGCTCACATGATCTAGTTTATTTGGCTTATTTAGGAGCATCTGTATTTCCATAGAAAGATATGTCAATACTAGTAAGGGATTGTGGACATTCCTATGTGCCTAAAGGAGTTCCAAGGAGATCTGTGGATGTTTGTTTAGTAGTAGTTTTTATAATTTGGCATCCACATTTGTTTAGAGATTTTTTAGGTGCTAATGATACCTTGAAGTGATTGTCTCTCTGTAGGATATGACAGACATATGTGGAAGCATCTTCAAGAACTGATTAGAAAATGAAACTCTCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGAGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATCCTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGACCGGAGATGGCACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCAAAAAATAAATAAATAAATAAATAAAAAGAAAATGAAACTCTCCTCTAGTAGTATTCTGAGCGGAGTTCAGCTATACCATGTTGCTGTTAAGAAAAGATGATATATAATTAAAATAAAGCAGGCCAGGCGCAGTGGCTCACTCCTGCAATCCCAGCACTTTTGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAGGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCCGGGCGTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATA
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GTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATCTACTTGGGAGGCTGAGGCAGGAGATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGACCCAAGATTGCACCACGGTACTCCAGCCTGGGTGACAGAGCCAGACTCCGTCTGAAAACAAACAAAAAACCAAAATGCAACAAAAAAATTGGAAATATATATCATTATTAGATAGAAGCCATTTAAAGTCCATACCTAACTTCTTGTGTGGGAAACTTAATTTTTATTATGTTTTCTGTAGACTAAAAAAAGTGGTAAACCTGGGCCATTCTTGCTGTCTGGATCCAGACACAAGACTATTAAGATGTGGGATGTCAGTACTGGCATGTGCCTTATGACCCTCGTAAGTTTGCATAATCTTACCATTTCTTTTGCATCTTCACTGTTTATACCTTTTTGGATTAATGCTTTATGATATCTTAAATAATCTGAATTATTCTGGGCTTTAAAATAACTTCTTTATAAAGATAGTTTTCCTTTAGCTTTTGTTGTTGTTATAGTGATGTGAAAGTTATTTCTCTAGAATGCAGATTCTATAAAGAATCTGTAGAGCCAGTCGGTGTTTGAGGGGGAGATGCTGCTAGCTCACTGTATCTTTAAAAATTGTGTAATATCTCGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGCTAACTTGGGGAAATCCCGTCTCTACCAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAATAAAATAAAACAAATGTGTAATATCTCTTACGGAGAAAAAGCAGCATTCTTAGAGACCTGTTCACTGTTGAAGATGTTTGTTTCTCTGTTTCACTTTATTTATATGAATCCTTTTAACTGTTATACCTCCTTGCTCACATGATCTAGTTTATTTGGCTTATTTAGGAGCATCTGTATTTCCATAGAAAGATATGTCAATACTAGTAAGGGATTGTGGACATTCCTATGTGCCTAAAGGAGTTCCAAGGAGATCTGTGGATGTTTGTTTAGTAGTAGTTTTTATAATTTGGCATCCACATTTGTTTAGAGATTTTTTAGGTGCTAATGATACCTTGAAGTGATTGTCTCTCTGTAGGATATGACAGACATATGTGGAAGCATCTTCAAGAACTGATTAGAAAATGAAACTCTCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGAGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATCCTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGACCGGAGATGGCACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCAAAAAATAAATAAATAAATAAATAAAAAGAAAATGAAACTCTCCTCTAGTAGTATTCTGAGCGGAGTTCAGCTATACCATGTTGCTGTTAAGAAAAGATGATATATAATTAAAATAAAGCAGGCCAGGCGCAGTGGCTCACTCCTGCAATCCCAGCACTTTTGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAGGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCCGGGCGTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATA
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Task1_train_23198
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This alteration occurs within gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; Lissencephaly due to LIS1 mutation
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CCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTT
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CCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTTATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTT
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Task1_train_23199
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A variant on Chromosome 17 in gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Lissencephaly due to LIS1 mutation
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GGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTG
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GGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAATTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTG
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Subsets and Splits
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