Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
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
GGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCTCCAGGTGTAACCAGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGAC
GGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCTCCAGGTGTAACCGGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGAC
Task1_train_23103
This variant impacts the gene FANCA (FA complementation group A) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Fanconi anemia complementation group A
TTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCGTCTGTACTAAAGATACCAAAATTAGTCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGACTGCACCACTGAGCACAGCGAGACGTTGTCTCAAAAAATATATCAGTAAAAATAAAAAAAGAAGTTCGTGTTGGGAGAAACTGAGAAAGTATAGCAGGGTTTCTCTGTATTTATTAATATATTTTTTTGAGACAGGGTCTTGCTGTGTCATCCTGGCTGGAATAGAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAACCAAAGGTGCACACAACTGTGCCCAGCTAATTTTTGCATTCTTTGTAGAGATGGGGTTTCACTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGTTCAGGTGATCAACCCGCCTTGGCCTCCCACAGTGCTGGGATCACAGGTGTGAGCACCGTGCCCAGTATCTGTATAATTTCTTAAGAGCTGCACATGAGGCCACAACGATTTTAGTCAAGATTCCAATCAAACCATCTAAGTGCTGCTGTTCTTGCCTCTGAGGAGACAGTCGGCACACGCACCCTAGACTCGAGACGAGGAGACAGTCGGCACACACACACCCTAGACTCGGGACGTGGCATGATGCAGGGGAAGGAACGGTCACCTACGTGCTGCTGTTCTTGCCCGAGGAGCACACACAAACCCTAGACTCAGGACGTGGCATGATGCAGGAGAAGGAACGGTCACCTACGTGAACATCTTCCTCTTTCAACACCTCTCGGAAGGTTCTGTGTGTCCAGAGAGAGAGGGCAGCTCTCTGCCAGTCTGCAGAAGGAAGGTGCAAGGGTCTCCAGGAAAGGCTGGCTACGTCCTCCTCAGAAAGAGGCTGTCGGGCCTCTGAGAACAATCTGAACATGAGGAACTGAAACTGAAACAGAGAGTGACCCGGCCGTTTCTTCATTGCGCAAGTTTCACTGTGAGTGGCTGAGCAAATGCTCAGGTGGAAACAGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACT
TTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCGTCTGTACTAAAGATACCAAAATTAGTCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGACTGCACCACTGAGCACAGCGAGACGTTGTCTCAAAAAATATATCAGTAAAAATAAAAAAAGAAGTTCGTGTTGGGAGAAACTGAGAAAGTATAGCAGGGTTTCTCTGTATTTATTAATATATTTTTTTGAGACAGGGTCTTGCTGTGTCATCCTGGCTGGAATAGAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAACCAAAGGTGCACACAACTGTGCCCAGCTAATTTTTGCATTCTTTGTAGAGATGGGGTTTCACTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGTTCAGGTGATCAACCCGCCTTGGCCTCCCACAGTGCTGGGATCACAGGTGTGAGCACCGTGCCCAGTATCTGTATAATTTCTTAAGAGCTGCACATGAGGCCACAACGATTTTAGTCAAGATTCCAATCAAACCATCTAAGTGCTGCTGTTCTTGCCTCTGAGGAGACAGTCGGCACACGCACCCTAGACTCGAGACGAGGAGACAGTCGGCACACACACACCCTAGACTCGGGACGTGGCATGATGCAGGGGAAGGAACGGTCACCTACGTGCTGCTGTTCTTGCCCGAGGAGCACACACAAACCCTAGACTCAGGACGTGGCATGATGCAGGAGAAGGAACGGTCACCTACGTGAACATCTTCCTCTTTCAACACCTCTCGGAAGGTTCTGTGTGTCCAGAGAGAGGGGGCAGCTCTCTGCCAGTCTGCAGAAGGAAGGTGCAAGGGTCTCCAGGAAAGGCTGGCTACGTCCTCCTCAGAAAGAGGCTGTCGGGCCTCTGAGAACAATCTGAACATGAGGAACTGAAACTGAAACAGAGAGTGACCCGGCCGTTTCTTCATTGCGCAAGTTTCACTGTGAGTGGCTGAGCAAATGCTCAGGTGGAAACAGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACT
Task1_train_23104
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?
Pathogenic; Fanconi anemia complementation group A
ACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCGTCTGTACTAAAGATACCAAAATTAGTCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGACTGCACCACTGAGCACAGCGAGACGTTGTCTCAAAAAATATATCAGTAAAAATAAAAAAAGAAGTTCGTGTTGGGAGAAACTGAGAAAGTATAGCAGGGTTTCTCTGTATTTATTAATATATTTTTTTGAGACAGGGTCTTGCTGTGTCATCCTGGCTGGAATAGAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAACCAAAGGTGCACACAACTGTGCCCAGCTAATTTTTGCATTCTTTGTAGAGATGGGGTTTCACTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGTTCAGGTGATCAACCCGCCTTGGCCTCCCACAGTGCTGGGATCACAGGTGTGAGCACCGTGCCCAGTATCTGTATAATTTCTTAAGAGCTGCACATGAGGCCACAACGATTTTAGTCAAGATTCCAATCAAACCATCTAAGTGCTGCTGTTCTTGCCTCTGAGGAGACAGTCGGCACACGCACCCTAGACTCGAGACGAGGAGACAGTCGGCACACACACACCCTAGACTCGGGACGTGGCATGATGCAGGGGAAGGAACGGTCACCTACGTGCTGCTGTTCTTGCCCGAGGAGCACACACAAACCCTAGACTCAGGACGTGGCATGATGCAGGAGAAGGAACGGTCACCTACGTGAACATCTTCCTCTTTCAACACCTCTCGGAAGGTTCTGTGTGTCCAGAGAGAGAGGGCAGCTCTCTGCCAGTCTGCAGAAGGAAGGTGCAAGGGTCTCCAGGAAAGGCTGGCTACGTCCTCCTCAGAAAGAGGCTGTCGGGCCTCTGAGAACAATCTGAACATGAGGAACTGAAACTGAAACAGAGAGTGACCCGGCCGTTTCTTCATTGCGCAAGTTTCACTGTGAGTGGCTGAGCAAATGCTCAGGTGGAAACAGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCC
ACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCGTCTGTACTAAAGATACCAAAATTAGTCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGACTGCACCACTGAGCACAGCGAGACGTTGTCTCAAAAAATATATCAGTAAAAATAAAAAAAGAAGTTCGTGTTGGGAGAAACTGAGAAAGTATAGCAGGGTTTCTCTGTATTTATTAATATATTTTTTTGAGACAGGGTCTTGCTGTGTCATCCTGGCTGGAATAGAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAACCAAAGGTGCACACAACTGTGCCCAGCTAATTTTTGCATTCTTTGTAGAGATGGGGTTTCACTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGTTCAGGTGATCAACCCGCCTTGGCCTCCCACAGTGCTGGGATCACAGGTGTGAGCACCGTGCCCAGTATCTGTATAATTTCTTAAGAGCTGCACATGAGGCCACAACGATTTTAGTCAAGATTCCAATCAAACCATCTAAGTGCTGCTGTTCTTGCCTCTGAGGAGACAGTCGGCACACGCACCCTAGACTCGAGACGAGGAGACAGTCGGCACACACACACCCTAGACTCGGGACGTGGCATGATGCAGGGGAAGGAACGGTCACCTACGTGCTGCTGTTCTTGCCCGAGGAGCACACACAAACCCTAGACTCAGGACGTGGCATGATGCAGGAGAAGGAACGGTCACCTACGTGAACATCTTCCTCTTTCAACACCTCTCGGAAGGTTCTGTGTGTCCAGAGAGAGAGGGCAGCTCTCTGCCAGTCTGCAGAAGGAAGGTGCAAGGGTCTCCAGGAAAGGCTGGCTACGTCCTCCTCAGAAAGAGGCTGTCGGACCTCTGAGAACAATCTGAACATGAGGAACTGAAACTGAAACAGAGAGTGACCCGGCCGTTTCTTCATTGCGCAAGTTTCACTGTGAGTGGCTGAGCAAATGCTCAGGTGGAAACAGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCC
Task1_train_23105
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?
Pathogenic; Fanconi anemia complementation group A
ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTAAGAAATTGCTGCTGTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCC
ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTCAGAAATTGCTGCTGTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCC
Task1_train_23106
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.
Pathogenic; FANCA-related disorder
ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTAAGAAATTGCTGCTGTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCC
ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTCAGAAATTGCTGCTGTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCC
Task1_train_23107
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.
Pathogenic; Fanconi anemia complementation group A
TCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTAAGAAATTGCTGCTGTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCT
TCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCCTTGAGCTAAATGTCTGGAAGCAGAATTGCAGGAACAAAACTGCCTCCCAGGGGTAGGGCTGGTTTGGTCCCGGGCAGTGAAACAGCCCATCTCTAGGCCTCTGCCAGGAATGGCGTTCCCACCAAAAATGCACACCAACTGGACAAGCCAGACACACTATTGGTGCTGCGTGACCGTGTCCATCTCTGCCCCCGAGGAGATGAGAGCCTCCCATGTTTATAACCAGCCTGCTCCAAGGACTGTCGTCCCTGCTCAGCATGCTGGGTGGGAACCACGCTGCCCTCTCCTAAGCTCAAACTCCATGTTTTCTTTAAAAACTTGGCACCAGGGACAAAGTTCCTCAGAGGAAATAACTGGAAATACGTGCACCCTGGATCCTCAGGGGCTGCTCCCAGATTCTGACTTAATTTATCTGGAAAGGGGCCAGGAATCTATAGTTTCAAAAGCTTCTCAGTTGATTCTAATGTGAAGCCTGAAGTTGAAAACCATTATTTATTTATTTTTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGAAAACCACTATTTTATACACGAGACGTTCATTAAAATCCTATAAAAGGACAACACTGGTTTGCAGTGCCATTTCACCTTTACTTTTGACATTCAGGGTTTCCAATGCTCATCTTTAAATTCCTTTGTCTGGGCCGGGCACCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAAAACAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAAACATACAAAACAATTAGCCGGGTATGGTGGCACGTGCCTGTAATCCCAGCAACTTGGGAAGCTAAGGCAGGAGAACTGCCTGAACCCGGGAGGTGGAGGTTGCAGTGGGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATTCCTTTGTCTGAACAATGTAAGGAACATTTACTAGATGAGAGGAATAAGAATTCTTCTTTCCAGGGAAAGATACTTATTATGAATACTGATCTTTTAATTCATCTATCCTATAAATGCCAACATCTATTTCATTACAATTACAGACTTGTAGTTGTCTTCATACAACTTCACTTTACACTCAGAGAACACAAGGAAAGGCAGCACTCAGCAGTCAGGCTGCCTAAGCAGACAGCAGAGGTGGCCATGACAGCCAGCCTGACTCAGGAGCTGCCCCATGACAGCCAGCCTGACCCAGGAGCTGCCCCTGAGATGGGCACAAAGCGGCAGCAGACCTCGGCCTTCCGGTCCGAAAGCTGCGTAAACCTGAAACGTATGGCAGAATGGAAAAATAGGAAAAGAGTGAACCTACCTTTTTAATAAGGCCTGGAGATAAGCAGCTGCACAAAGTATCTCGTGACTGGGAAGAAAACTTGCAGAGAGAGTAAGAAATTGCTGCTCTACAAAATCTGAAAACAGAAATTATAACATATAAATGTAATCCATACAAAATAAGGGATGAAGGAAAAAGTTACTTTGAATTTCATAAAACTGAATTTAGTGCATTCCGAACTGGATGGCCTGAGCATTGGTCCTTCGTTTTTTGGTTCGTTTGTTGTGAGACAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACCACCTGGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCTCCCACCATGCCCAGCTGATTCTGTTGTAGTTGTTGTTAGTGCTTTTTTTTTGAGAGGGAGTCTTGCTCTGTTGCCAAGCCGGAGTAGAGTGGTGCGATTTCGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGTGCCAGCCTCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCGAGGATGGTCTCGATCTCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCT
Task1_train_23108
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.
Pathogenic; Fanconi anemia complementation group A
CAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCC
CAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGGGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCC
Task1_train_23109
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?
Pathogenic; Fanconi anemia complementation group A
CCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGAC
CCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGGCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGAC
Task1_train_23110
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?
Pathogenic; not provided
CAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCT
CAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACACCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCT
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?
Pathogenic; Fanconi anemia complementation group A
GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTC
GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCAGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTC
Task1_train_23112
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.
Pathogenic; Fanconi anemia
GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTC
GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCAGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTC
Task1_train_23113
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
ACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACA
ACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCTCTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACA
Task1_train_23114
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?
Pathogenic; Fanconi anemia complementation group A
ACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACA
ACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCTCAGCTACTCAGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTTCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACA
Task1_train_23115
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?
Pathogenic; Fanconi anemia
AGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCC
AGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCGGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCC
Task1_train_23116
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?
Pathogenic; Fanconi anemia complementation group A
ACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATAC
ACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATTGGCTGTGTGCCTCTCATGCCAACACCCAGTACTCAGTGTTTGGGGCCTGGGGTGAGTGGGGACTGTCTGGTGTGGCCAAGCGCCTAGGAGGGACTCTGTATCCCCGGAGTACCGAGTGCCTGCTCCCCGAGGCCCATGTCTGAGGTGTGGGATCCGCACAGCTGCCATCTGACTCCCTCTCCTTGCTCCACGTACATTTCTTGCGCCTCTTCTAAGTTCTCTGTTATTCAGACCCTGTCATAATGTCAGATCTCCCCTTTCCCGCACAGGGTCTCCGGCACCGCAACAGGGCTCTGTCCCGACCTGGGCTACCTCTGCCCAAGAGACCAGAAGCTACAAGCCAAGCCCCAGCCAGCAACTCCCACCAGAGTCTCCCAGCCCTCTGTCCTGGCTTCCGCCTCTGAGTGGCAGCTGAAGGGATTCTGTCCTGGCTTCTGCCTGTGCGTGGCAGCTGCAGGGAGCCCTTGAGGCACTGAGCAGACCATTCTTAACCACAGGGTCCTTCCTCACCTCAGCACATGGCCCCATCTGCTGAGCCCTAGAGAAACAGCCCGAGGTGTACACACTGGGAAGCTACTCACCATGGGGTGCCGAAGAACCTGACCAGAGGGAGCTGGTCCAACCAAGGGCCAGACAAGGGACCAAGACAAAACAAAGCAGCTCTCACCAGGACATCAAAGAATGCTTAACGATATAGACAGTTACTATCTACTATTAATTTCAGCAGTTTAGTATAATATGATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGGCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATAC
Task1_train_23117
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?
Pathogenic; Fanconi anemia complementation group A
TATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGACATGGAGGCAGTCACCTGTAATCCTAGCAACTTGGGAGGCTGAGGCGGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAAAGAAACTGCATGTTCTCAATCCACAGATGAACATTTCTTACTCTGGATTTTACAGAAAACCATCACATGGAAGCAGGATCACAGGGCAGAGACCCTGTGTGTCTGATGTGACATCGACTCCGGCAGGCAGGATGAGCGGGAAAACAGGCATCCTAGTCACGCGTTTTCTTCTCTATCATCATTCGTCCTACTCAGATGCAACTAGCCGAATATTCACCTTCTGCCAAGGGTCTGTGACAGCTTCAGTAGGACTAGCCTTCCACCTTGTCTCAAAAAAGGTTCCACACCCGCCAGCCCGGGGTCAATCTTTAAACTACTGGACTACTAGGAAGACACACCAGCCTGATGTCACTATGGGGAAAATGGCCCAGCCACAGAGCTCCAACCACAGGCTGCACACATGAGACACAGCATGAGCTCCCATCCATCCTCACCATCACGCTGGCTGGGGTCTGTCATGGAGGCTCTCAGCTCTCCCAGTGCAGCTGTGAGCTGTCCCAGGGGCTCCTCAGCAGAGTTGGGTTCTGCCCTCACTCCCAGGGCTGCATCTGTGAGAAGAAGGAAGAAACCAGATGGAAAGACACTCAACAGGACTCTTCACTGCAAAAATAGAAACTTCACACAGTCAAATACAGAGCTGTGAACTTCCAAGCTGCTGTGTGTGGCAGACGGAGGGACTGGGAGTCTCTGAGGAGGTAAATGAGGTGTCTTCCCTGATGCTGGATGCCACATCGAAAATTACAATTATAAACGAGTTTCATAAAAAATTACATTTATAAACAAGTTTAAGAAAAAAAGCGGTTCTGTGTGCACCATCAATACCACTCCACCACCGTGAGAAGCATACACACGGAAGAAAACAAGGAGGATCGAGGGCTGGCGAGGGTGGGGACAGGATCACGGATAGGTGACCATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGG
TATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTGGAATTTTCCAGGGCACTGAAGACGAATTGAGAAGTAGCAGCCTGGCCCTCAGAGTGGGCCCCCAAGGGTGGCCCCCATGAAGGAGAGCCTCACCTGGTGACGGAGCAGCTGGCAGAGCCGGGTGAGCACTGCAGGGAGCACACGTCCACACATGGTCCTCACGAAGAGGGCAGCCCAGGGACCCTGCCTGCAGAGACAGCCGTGAAACCATCAGTACTAGCCATTCAGTCCTGCACATCCCTCCAACAGCTAATCCAACCACCAGCGGCCGAAGAAAGAGCCAAGCTGTTCCCCAAAACAGTGGTCTTTCTGGAAGACAACCCATCTTCTGCAGTGCTTCCCAACTTCTGCTGCGTCCTATTTGATGAAACTCAGCATCGCCGCATGCTCCTGCGGAGACGAGCTCATGAGTCCCTGGTCTGCAGACTTGGCCCAGCAAGAGGTGGCACCCAGAGGAGCCCCACCACTCAGGGAGCTGCCCGCGCCTTCACCTCTCCGGGGGAGCGACACTGGAGGCAGCCATCAGGTTCTGACAGAAAGACGTCAGCAGGAGGTCCACAGCCTGCAGAGACACAGTTCTCATGAGCGTGGTGTCCTGGGGACGGGAGCAGCAGGAAGGAAGCCGGCCAGCGCTCCCGCCACAGACATCGCAATTCTGCTTTGCAAAAAGACCTCCAAAACAGGCTTGTTTGGAGGGCATGTTACAATGCAAACTGGTGCCCAGGGCCCCCATTCCCCAATCTTGGGAATAGCAGCCCTCAAGTAATCGCCAATCACAAAATTCTACAGCAGCAGGCGGGACTGGCAAACCTTGTGTGTAAGGGGCCAGAAAAATATTTTAGGTTTTGGGGCCAGAAACAGCCTCTGTCGCATATTCTAAAGAGGCAGTCGAGCCCAACCTGGTCAACATGATGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGTGCACCTGTAATCCCAGCTACCCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTCCACTCCAGCCTGGGCAACAGAGAAGACTCAGTCAAAAAAAAAAAAAAAAAAAGAGGCCAAGTGCCGTGGCTTATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGACAGATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCGTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGACATGGAGGCAGTCACCTGTAATCCTAGCAACTTGGGAGGCTGAGGCGGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAAAGAAACTGCATGTTCTCAATCCACAGATGAACATTTCTTACTCTGGATTTTACAGAAAACCATCACATGGAAGCAGGATCACAGGGCAGAGACCCTGTGTGTCTGATGTGACATCGACTCCGGCAGGCAGGATGAGCGGGAAAACAGGCATCCTAGTCACGCGTTTTCTTCTCTATCATCATTCGTCCTACTCAGATGCAACTAGCCGAATATTCACCTTCTGCCAAGGGTCTGTGACAGCTTCAGTAGGACTAGCCTTCCACCTTGTCTCAAAAAAGGTTCCACACCCGCCAGCCCGGGGTCAATCTTTAAACTACTGGACTACTAGGAAGACACACCAGCCTGATGTCACTATGGGGAAAATGGCCCAGCCACAGAGCTCCAACCACAGGCTGCACACATGAGACACAGCATGAGCTCCCATCCATCCTCACCATCACGCTGGCTGGGGTCTGTCATGGAGGCTCTCAGCTCTCCCAGTGCAGCTGTGAGCTGTCCCAGGGGCTCCTCAGCAGAGTTGGGTTCTGCCCTCACTCCCAGGGCTGCATCTGTGAGAAGAAGGAAGAAACCAGATGGAAAGACACTCAACAGGACTCTTCACTGCAAAAATAGAAACTTCACACAGTCAAATACAGAGCTGTGAACTTCCAAGCTGCTGTGTGTGGCAGACGGAGGGACTGGGAGTCTCTGAGGAGGTAAATGAGGTGTCTTCCCTGATGCTGGATGCCACATCGAAAATTACAATTATAAACGAGTTTCATAAAAAATTACATTTATAAACAAGTTTAAGAAAAAAAGCGGTTCTGTGTGCACCATCAATACCACTCCACCACCGTGAGAAGCATACACACGGAAGAAAACAAGGAGGATCGAGGGCTGGCGAGGGTGGGGACAGGATCACGGATAGGTGACCATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGG
Task1_train_23118
This gene mutation involves FANCA (FA complementation group A) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Fanconi anemia complementation group A
AGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGACATGGAGGCAGTCACCTGTAATCCTAGCAACTTGGGAGGCTGAGGCGGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAAAGAAACTGCATGTTCTCAATCCACAGATGAACATTTCTTACTCTGGATTTTACAGAAAACCATCACATGGAAGCAGGATCACAGGGCAGAGACCCTGTGTGTCTGATGTGACATCGACTCCGGCAGGCAGGATGAGCGGGAAAACAGGCATCCTAGTCACGCGTTTTCTTCTCTATCATCATTCGTCCTACTCAGATGCAACTAGCCGAATATTCACCTTCTGCCAAGGGTCTGTGACAGCTTCAGTAGGACTAGCCTTCCACCTTGTCTCAAAAAAGGTTCCACACCCGCCAGCCCGGGGTCAATCTTTAAACTACTGGACTACTAGGAAGACACACCAGCCTGATGTCACTATGGGGAAAATGGCCCAGCCACAGAGCTCCAACCACAGGCTGCACACATGAGACACAGCATGAGCTCCCATCCATCCTCACCATCACGCTGGCTGGGGTCTGTCATGGAGGCTCTCAGCTCTCCCAGTGCAGCTGTGAGCTGTCCCAGGGGCTCCTCAGCAGAGTTGGGTTCTGCCCTCACTCCCAGGGCTGCATCTGTGAGAAGAAGGAAGAAACCAGATGGAAAGACACTCAACAGGACTCTTCACTGCAAAAATAGAAACTTCACACAGTCAAATACAGAGCTGTGAACTTCCAAGCTGCTGTGTGTGGCAGACGGAGGGACTGGGAGTCTCTGAGGAGGTAAATGAGGTGTCTTCCCTGATGCTGGATGCCACATCGAAAATTACAATTATAAACGAGTTTCATAAAAAATTACATTTATAAACAAGTTTAAGAAAAAAAGCGGTTCTGTGTGCACCATCAATACCACTCCACCACCGTGAGAAGCATACACACGGAAGAAAACAAGGAGGATCGAGGGCTGGCGAGGGTGGGGACAGGATCACGGATAGGTGACCATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAATCATCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAAGATGGTCTCGATCTCCTGACCTCATGATTTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGGCATGAGCCACTGCGCCCAGCCACCACTTTCAATATAAAAAGGAAGATACGCTGCATATGTTTTTAAAGTAAAAAACCTTCAAGTTCTGGGGTTGCTGGAGAAGACACAAGCATGAAAATGCACTGCTATGCACAGCCACAGCCAAAATGAAACCAGAAATCACAGGCTCTAGAAATCATAGGCTCTAGGAGTCTGTGCATAAGCCTCATCAGACAAATGATTAGAAACCATTCTGGAAGCCACCAAAAGCTACGAACAAGTGGACCCCAGGGGAAGGAGGATCCTGGGGGAAGGAGGACACCTCTCAAGAGAAGCAAACGCCTCACACCGCAGGGTACACAGCCCTGAGGCCCCTGTGGCATCCCCAGCACAACTGAGAGGTCATGCTCTCAGGGTGGGTCGGCCGGGCATGGGGGCTCCCACCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATTGAGACCATTCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAACACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGCGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATCTCAACGAGCCTCCCTGGCCCTGCAGGTGGAAGGGGATCTAGAAGAGCACACAAGGGGCTGGGTACGGTTGCTCATGCCTGTAATCCCAGCACTTTGAAAGGCCGAGGCAGGCGGATCAGTTGAGGTCAGGAGTTCGAGACCAGCTTGTCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAACTAGCAAGGCGTAGTAGTGCGTGCCTATAATCCCAGCTATTACAGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGGGGCAGAGGTTTCAGCGAGCCAAAATCGCGCCACTGCAGTCCACAGCCACAGAGCGAGACTCTGTCTCAAAAAAAAAAAGCCCACAGGGAAGCAGCAGCCTCAGATCTATGTCTTCAGCTCATAGCGGCTCCCACAGGGAGATGCTGGCTTCTACTGGAGATAAAGCCACACACTTCAAGAAAAACCAGCCTCATGATGGCATCTCCCACTGCTGCCTGAGTGCAGCCTTTCACGGATTCCCAATGAGGGCGTAGGTCTGACCGACAGCTGCACCACTGCTCCCCACAGGCCAAAAGAGCCTGACTTCTACTCCTACCTGCACTGTGCAACA
AGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCGTCTAATGCCTCTGCCTAATGGAAAATGGTGAAGACCCCCTGCTTTGTTCTGAGCCCCTACACCTACCATGTGTTCCCGTGGCTCCAGTCTCGGCGTGTTGATGCTGAGCTGAATCTTTGATATCTCAACGCTGCTGTCATCCTCATTGTGGCCCAGGACAGCCCTCAGTCTTTCAGAAATCACTGCCACCTGTGCCGATATAACTGCGAAGGAAGAAACTAGTTAGGGATGACAAGAACCCCGAAAGGAGGGATACAGCTGCGGCCTAGAGAGCTCCGCCTCCCGTCAAGTACGATTCCACGGATCCTGCTGACTGCACACATCCCCCAGCCAGGTGCTGAACACCAGTGTTTGTTCGCCCCGCAGGATTTGCAGCCTTGTGGTGCAGCATGTGTCATGGCAAATGGGGCCAGACGCCATCCACTACCTTTTCCTGATTGGCTGAGAGGGGGACATGTTCATTCACCAACATGAACCTCCCCATCTGAAATCCCATGCCAGCCCTCCAGACACCACATCTGCCTAAGCGCATGCCAGAGGTTCCATGTTGGCCCAGGGAAATGGGCCACACATAGCCCAACTACATCATTTAAAGGTGAAAACCGCTTTGCTTTTAGAAACAGGACTCACCTGACATGTATCAACCTCTTGCTTAAGCACTGGAACTTTTCCTCCATGTCCCCCATGTACCACATTCTGCACAAGCCATCATTGAATCACCGGAAGGCTGCACTCAGGAACTGGCGCACTTGGTCTGAGTGAAGACCGCCAAGGCGCTGCAGCCCCAGCTAGCGCTAACCAAGCTGTGTTAACATTGCCTCCATGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAATATATATATATCACCTCCATGTAGGCCAGGCACGGTGGCTCACACTGAAATCCCAGCACTTTGGGAGGCCAACACAGGTGGATCACCTGAGGTCAGGATTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGACATGGAGGCAGTCACCTGTAATCCTAGCAACTTGGGAGGCTGAGGCGGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAAAGAAACTGCATGTTCTCAATCCACAGATGAACATTTCTTACTCTGGATTTTACAGAAAACCATCACATGGAAGCAGGATCACAGGGCAGAGACCCTGTGTGTCTGATGTGACATCGACTCCGGCAGGCAGGATGAGCGGGAAAACAGGCATCCTAGTCACGCGTTTTCTTCTCTATCATCATTCGTCCTACTCAGATGCAACTAGCCGAATATTCACCTTCTGCCAAGGGTCTGTGACAGCTTCAGTAGGACTAGCCTTCCACCTTGTCTCAAAAAAGGTTCCACACCCGCCAGCCCGGGGTCAATCTTTAAACTACTGGACTACTAGGAAGACACACCAGCCTGATGTCACTATGGGGAAAATGGCCCAGCCACAGAGCTCCAACCACAGGCTGCACACATGAGACACAGCATGAGCTCCCATCCATCCTCACCATCACGCTGGCTGGGGTCTGTCATGGAGGCTCTCGGCTCTCCCAGTGCAGCTGTGAGCTGTCCCAGGGGCTCCTCAGCAGAGTTGGGTTCTGCCCTCACTCCCAGGGCTGCATCTGTGAGAAGAAGGAAGAAACCAGATGGAAAGACACTCAACAGGACTCTTCACTGCAAAAATAGAAACTTCACACAGTCAAATACAGAGCTGTGAACTTCCAAGCTGCTGTGTGTGGCAGACGGAGGGACTGGGAGTCTCTGAGGAGGTAAATGAGGTGTCTTCCCTGATGCTGGATGCCACATCGAAAATTACAATTATAAACGAGTTTCATAAAAAATTACATTTATAAACAAGTTTAAGAAAAAAAGCGGTTCTGTGTGCACCATCAATACCACTCCACCACCGTGAGAAGCATACACACGGAAGAAAACAAGGAGGATCGAGGGCTGGCGAGGGTGGGGACAGGATCACGGATAGGTGACCATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAATCATCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAAGATGGTCTCGATCTCCTGACCTCATGATTTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGGCATGAGCCACTGCGCCCAGCCACCACTTTCAATATAAAAAGGAAGATACGCTGCATATGTTTTTAAAGTAAAAAACCTTCAAGTTCTGGGGTTGCTGGAGAAGACACAAGCATGAAAATGCACTGCTATGCACAGCCACAGCCAAAATGAAACCAGAAATCACAGGCTCTAGAAATCATAGGCTCTAGGAGTCTGTGCATAAGCCTCATCAGACAAATGATTAGAAACCATTCTGGAAGCCACCAAAAGCTACGAACAAGTGGACCCCAGGGGAAGGAGGATCCTGGGGGAAGGAGGACACCTCTCAAGAGAAGCAAACGCCTCACACCGCAGGGTACACAGCCCTGAGGCCCCTGTGGCATCCCCAGCACAACTGAGAGGTCATGCTCTCAGGGTGGGTCGGCCGGGCATGGGGGCTCCCACCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATTGAGACCATTCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAACACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGCGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATCTCAACGAGCCTCCCTGGCCCTGCAGGTGGAAGGGGATCTAGAAGAGCACACAAGGGGCTGGGTACGGTTGCTCATGCCTGTAATCCCAGCACTTTGAAAGGCCGAGGCAGGCGGATCAGTTGAGGTCAGGAGTTCGAGACCAGCTTGTCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAACTAGCAAGGCGTAGTAGTGCGTGCCTATAATCCCAGCTATTACAGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGGGGCAGAGGTTTCAGCGAGCCAAAATCGCGCCACTGCAGTCCACAGCCACAGAGCGAGACTCTGTCTCAAAAAAAAAAAGCCCACAGGGAAGCAGCAGCCTCAGATCTATGTCTTCAGCTCATAGCGGCTCCCACAGGGAGATGCTGGCTTCTACTGGAGATAAAGCCACACACTTCAAGAAAAACCAGCCTCATGATGGCATCTCCCACTGCTGCCTGAGTGCAGCCTTTCACGGATTCCCAATGAGGGCGTAGGTCTGACCGACAGCTGCACCACTGCTCCCCACAGGCCAAAAGAGCCTGACTTCTACTCCTACCTGCACTGTGCAACA
Task1_train_23119
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?
Pathogenic; Fanconi anemia complementation group A
CGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGCTACTTGGGAGGCAGAGGGGGAAGGATTGTTGAAACCCAGGAGGTCAAGGCTGGCCAGGTGTGGTGGATCGCGCCTCTAGACCCTGCTACTTGGGAGGCGGAGGGGGAAGGATTGTTGAAGCCCAGGAGATCAAGGCTGGCTGGGTGTGGTGGAGCACGCCTCTAGACCCAGCTACTTGGGAGGCGGAGAGGGAAGGACTGTTGAAGCCCAGGAGGTCAAGGCTGTAGTAAGCCATGACTGCACCGCTGCATTCCAGCCTGGGTGACAGAGTGGGACCCTGTCTCAAAACAAATGAAAGTAAGGATCCCAGAGAATAAACTTATTTTAAGATTTAAAAAATTATTTTTGCAGAGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGATCAGGAGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAGAAAAAAAAAAGGCTCTTTGTGTTTATCTTCTTACAGGTCCCAGAACTTTATAAATTTTGCTGGAATATAGGACTTATACTTTCCTATTTCTTCCAAAGTTGGTTGATACCAACCAACTTTCTTACTAGAAACCTGCAATGTAAGTGATCCAAGGATACCTTATTATTCTAAACAATAACTTCCAGGTCTACTCTCAAGTTCTGCAGCATGAGGCTTTCCCAGAGCTCTTTCATTTTCCTTCAGTTCTCCTCTCTGCACAATCATTATGTACTGAAACATTTTCTTTCACTGAAGAATGATGCAGCCGGGTGCGGTAGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTCCTTGAACCCAGGAGGTGGAGGGTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAGGCCAGGAGCGGTGGCTCACATCTGTAATCCCAGCACTCTGTGAGGATGAGGTGGGTAGATCATCTTCTGAGCTCAGGAGTTTGAGAACCGCCTGGCCAATATGGCAAAACCCTGTCTGTACTAAAAATACAAAAATTAGCAGGGCGTGGTGGTGCATACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATTGCTCCAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCAATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAACTTAGCCAGGCACAGGCTTGTAATCCCAGCTACTCAGGAGGCTGAAGCAAGAGAATCGCTTGAACCTAAGATGTGGAGGTTGCAGTGAGCCAAGATCTCGCCTCTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCCAACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAACCAACCAATTTTGGAGCCAATATTTTACCAATAAAACACAATAGTGGTCTAACAAATTTCTCTACAGAAGATCCACAATTCTTCGCATTGTCAGAAGAAACCTGGAAGTAGTCATCCCCTTCTAACCGTTGCTGCATACCTCTTCAGAGACTCTATAAACGCCACACGGGAGTCAGGGACTTTGGGGAGCTGTGGGAAGAGAAGAGACCTGTGAGAGACTGACAAGGAAAGTCCTTGCTTTCTACACAACTGGTCACAAACTCATGGAGACGCATACTGACCACTCGAGGTGTGAGCAGGGCGGGGAGGAAGTGGGACACGTAGTAAGGCCTCCTGAATATGCTGCAACACAGAGAAGCAGACAGTGCATCAGTCAGAGCAGCGAGAAGGCAATTCCCACAGACGGTGACCGGTGTTTCAGAGAGTGGACTGCGAGGGCTCACTCCAAAGCCACGATGCATTATGAAGTCTTCTTGTGCACAGTTCCGGGACAAGGCATGTGTAGGGCAGGCCGTGCTAGCCCAGCCCTGAGTCCGTGGGAATCAGGACCACATTCGGCCTGCTCCCTGGGCTTGAACGTGGAGCCTGGATCAATCTGAGGCCACGAGGACCATGTAAGGTCCATTTGGGGCAATTTCCTTGGAGCTAAATTTCAAAACCCTGGGAGCTGCAATCAGCTCATCCACATGTGTAACCACCAGAATTCAAGATGTTTTGAGATCATACCAAATTCAATAAAGCTGTGCTATTCAGCTCTCTGTTACTGACTCCATATTGGTCACAAAGAAGGCATTGATAAAAAAAAAAACATCATGGCCCCACTGCCTTCCCTCCCAGTGCAAGCTCCCCAATCAGCAGTTCCTGTTGGCTGCTTCAGCACGGGAGGGGCATCACCTGCTTTTACAGAGGAAAAAATGTTTCACAGCAAATGCACAGCTCTTGACCTCACCCCGTATCCCTTAACGGCAGGATCCTCGATTCACAGCCCTGACTCCTGTCTCTCTCTGAATAGACAGTGGCCAACCTGCCCCATGTGGCTCTGGGCAGAAATGGGACACACTCCAAAGAGCCCCAGACGCTGGCAGGCATCAGAGCGGAGTCTGCACACCCTGCAGGCATCAGAGCAGAGTCTGCACATACTGCAGGCATCAGAGCGCGGTCTGCACACACTGCAGCTGCTAGAGGCCTTTTCGGCAGCCCAGCCTACCTGGCCTCCATGACGGTGACTGGGATGTTCCCCGTATGCTCAAACACCATGATGGCCTTTTCAACATCCTGAAGAGCTTGGCTGTGGGGCTGGTTCCCATACAGGGAGGAAAGGAAAAAGAACAGAGGACTTTAAAGAAAAGACTGAGCAGTGAAGGCCACACTCAACCTGTGCTTCCTTGTTGAAAGGCTCTGTACACATTAAAGGTAAAGGCCCACATGCTGTGCGCACAGCAGGGGCCCTGGAGCACTCCAAAATGTCCCAAAATACCAGCACGACAGGGGAGGATGACACTGCCACCTCCACACACACAAGGTTCAGACCCCGTGATGTGCGGCCCTCCTCGAGAGCTCAGCTCTGCTGAGAGCCTGCCGTGAGCCTCTTTCCTGCCTCCAGGAAAGAGTTGAAAGTAAAGATTTCTAGGTGGGAAGGAGTAGAGACTTAATTTTTGAGATTAAAAGAAATTACGAGGGCTGGGTGCCATGACTCATGTCTATAAACGCAGTGCTTTGAGAGGCTAAGCGGGGCAGACTGCTTAAGCCCAAGGAGTTCAAGCCCGGCCTGGGCAACATGATGACATCTCATCTCTAAAAAAATACAAAAACATTAGCCAGGTGTAGAGGCATGAGCCAGTGGTCCCAGCTACTCAGGACGTGGAGGTGGAAGGATTGCCTGTGCCCAGGAAATCATGGCTCCAGTAAGCCATCATCATGCTACCCTACTGCAGCCTGGGCAACAGGGGAAGTCCCTGCATCAAAAAAAAAAAAAAACATTCTGAGGCCAGGCGCGGCAGCTCACATCTGTAATCCCAGCATTTTGGGGGGCCAAGGCGGAAGGATCACTTGAGCCCAGGAGTTTAAGACCAGTCTCGGCCACACAGGGAGACCCTATGTCTGCAAAAAATTTTAGAAACCAGCCAGGCATGGTGGCGCACACTTGTACTCCCAGTTACTCAGGAGGTCAAGGTGAGAAGATCGTTTCAACCTAGGAGTTTGAGGCTGCACTGAACTGTGA
CGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGCTACTTGGGAGGCAGAGGGGGAAGGATTGTTGAAACCCAGGAGGTCAAGGCTGGCCAGGTGTGGTGGATCGCGCCTCTAGACCCTGCTACTTGGGAGGCGGAGGGGGAAGGATTGTTGAAGCCCAGGAGATCAAGGCTGGCTGGGTGTGGTGGAGCACGCCTCTAGACCCAGCTACTTGGGAGGCGGAGAGGGAAGGACTGTTGAAGCCCAGGAGGTCAAGGCTGTAGTAAGCCATGACTGCACCGCTGCATTCCAGCCTGGGTGACAGAGTGGGACCCTGTCTCAAAACAAATGAAAGTAAGGATCCCAGAGAATAAACTTATTTTAAGATTTAAAAAATTATTTTTGCAGAGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGATCAGGAGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAGAAAAAAAAAAGGCTCTTTGTGTTTATCTTCTTACAGGTCCCAGAACTTTATAAATTTTGCTGGAATATAGGACTTATACTTTCCTATTTCTTCCAAAGTTGGTTGATACCAACCAACTTTCTTACTAGAAACCTGCAATGTAAGTGATCCAAGGATACCTTATTATTCTAAACAATAACTTCCAGGTCTACTCTCAAGTTCTGCAGCATGAGGCTTTCCCAGAGCTCTTTCATTTTCCTTCAGTTCTCCTCTCTGCACAATCATTATGTACTGAAACATTTTCTTTCACTGAAGAATGATGCAGCCGGGTGCGGTAGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTCCTTGAACCCAGGAGGTGGAGGGTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAGGCCAGGAGCGGTGGCTCACATCTGTAATCCCAGCACTCTGTGAGGATGAGGTGGGTAGATCATCTTCTGAGCTCAGGAGTTTGAGAACCGCCTGGCCAATATGGCAAAACCCTGTCTGTACTAAAAATACAAAAATTAGCAGGGCGTGGTGGTGCATACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATTGCTCCAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCAATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAACTTAGCCAGGCACAGGCTTGTAATCCCAGCTACTCAGGAGGCTGAAGCAAGAGAATCGCTTGAACCTAAGATGTGGAGGTTGCAGTGAGCCAAGATCTCGCCTCTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCCAACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAACCAACCAATTTTGGAGCCAATATTTTACCAATAAAACACAATAGTGGTCTAACAAATTTCTCTACAGAAGATCCACAATTCTTCGCATTGTCAGAAGAAACCTGGAAGTAGTCATCCCCTTCTAACCGTTGCTGCATACCTCTTCAGAGACTCTATAAACGCCACACGGGAGTTAGGGACTTTGGGGAGCTGTGGGAAGAGAAGAGACCTGTGAGAGACTGACAAGGAAAGTCCTTGCTTTCTACACAACTGGTCACAAACTCATGGAGACGCATACTGACCACTCGAGGTGTGAGCAGGGCGGGGAGGAAGTGGGACACGTAGTAAGGCCTCCTGAATATGCTGCAACACAGAGAAGCAGACAGTGCATCAGTCAGAGCAGCGAGAAGGCAATTCCCACAGACGGTGACCGGTGTTTCAGAGAGTGGACTGCGAGGGCTCACTCCAAAGCCACGATGCATTATGAAGTCTTCTTGTGCACAGTTCCGGGACAAGGCATGTGTAGGGCAGGCCGTGCTAGCCCAGCCCTGAGTCCGTGGGAATCAGGACCACATTCGGCCTGCTCCCTGGGCTTGAACGTGGAGCCTGGATCAATCTGAGGCCACGAGGACCATGTAAGGTCCATTTGGGGCAATTTCCTTGGAGCTAAATTTCAAAACCCTGGGAGCTGCAATCAGCTCATCCACATGTGTAACCACCAGAATTCAAGATGTTTTGAGATCATACCAAATTCAATAAAGCTGTGCTATTCAGCTCTCTGTTACTGACTCCATATTGGTCACAAAGAAGGCATTGATAAAAAAAAAAACATCATGGCCCCACTGCCTTCCCTCCCAGTGCAAGCTCCCCAATCAGCAGTTCCTGTTGGCTGCTTCAGCACGGGAGGGGCATCACCTGCTTTTACAGAGGAAAAAATGTTTCACAGCAAATGCACAGCTCTTGACCTCACCCCGTATCCCTTAACGGCAGGATCCTCGATTCACAGCCCTGACTCCTGTCTCTCTCTGAATAGACAGTGGCCAACCTGCCCCATGTGGCTCTGGGCAGAAATGGGACACACTCCAAAGAGCCCCAGACGCTGGCAGGCATCAGAGCGGAGTCTGCACACCCTGCAGGCATCAGAGCAGAGTCTGCACATACTGCAGGCATCAGAGCGCGGTCTGCACACACTGCAGCTGCTAGAGGCCTTTTCGGCAGCCCAGCCTACCTGGCCTCCATGACGGTGACTGGGATGTTCCCCGTATGCTCAAACACCATGATGGCCTTTTCAACATCCTGAAGAGCTTGGCTGTGGGGCTGGTTCCCATACAGGGAGGAAAGGAAAAAGAACAGAGGACTTTAAAGAAAAGACTGAGCAGTGAAGGCCACACTCAACCTGTGCTTCCTTGTTGAAAGGCTCTGTACACATTAAAGGTAAAGGCCCACATGCTGTGCGCACAGCAGGGGCCCTGGAGCACTCCAAAATGTCCCAAAATACCAGCACGACAGGGGAGGATGACACTGCCACCTCCACACACACAAGGTTCAGACCCCGTGATGTGCGGCCCTCCTCGAGAGCTCAGCTCTGCTGAGAGCCTGCCGTGAGCCTCTTTCCTGCCTCCAGGAAAGAGTTGAAAGTAAAGATTTCTAGGTGGGAAGGAGTAGAGACTTAATTTTTGAGATTAAAAGAAATTACGAGGGCTGGGTGCCATGACTCATGTCTATAAACGCAGTGCTTTGAGAGGCTAAGCGGGGCAGACTGCTTAAGCCCAAGGAGTTCAAGCCCGGCCTGGGCAACATGATGACATCTCATCTCTAAAAAAATACAAAAACATTAGCCAGGTGTAGAGGCATGAGCCAGTGGTCCCAGCTACTCAGGACGTGGAGGTGGAAGGATTGCCTGTGCCCAGGAAATCATGGCTCCAGTAAGCCATCATCATGCTACCCTACTGCAGCCTGGGCAACAGGGGAAGTCCCTGCATCAAAAAAAAAAAAAAACATTCTGAGGCCAGGCGCGGCAGCTCACATCTGTAATCCCAGCATTTTGGGGGGCCAAGGCGGAAGGATCACTTGAGCCCAGGAGTTTAAGACCAGTCTCGGCCACACAGGGAGACCCTATGTCTGCAAAAAATTTTAGAAACCAGCCAGGCATGGTGGCGCACACTTGTACTCCCAGTTACTCAGGAGGTCAAGGTGAGAAGATCGTTTCAACCTAGGAGTTTGAGGCTGCACTGAACTGTGA
Task1_train_23120
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.
Pathogenic; Fanconi anemia complementation group A
GGAGCTGAGACTCCTACAAAGAGGCAACTACTTCACCGAGGTGGTGATGGCAGGAAAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTAGGCCTCCCAAACTGCTGAGATTACAGGCATGAGCCACTGTACCTGGCCCGAACCCAAAACTTCTACAAAAATTAGCTCTTCAAATGGAAACTTTACTCACAAGCACTAAAAGAGAAACCATGGCGGTCCTTCAAAGCTGATATCTCAAATACACCCAACTCCCCACATGAACTGGGGGTTTTCACAGGGGTTGCCCAGGGATCCCTGAGGTCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAAT
GGAGCTGAGACTCCTACAAAGAGGCAACTACTTCACCGAGGTGGTGATGGCAGGAAAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTAGGCCTCCCAAACTGCTGAGATTACAGGCATGAGCCACTGTACCTGGCCCGAACCCAAAACTTCTACAAAAATTAGCTCTTCAAATGGAAACTTTACTCACAAGCACTAAAAGAGAAACCATGGCGGTCCTTCAAAGCTGATATCTCAAATACACCCAACTCCCCACATGAACTGGGGGTTTTCACAGGGGTTGCCCAGGGATCCCTGAGGTCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCACATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAAT
Task1_train_23121
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.
Pathogenic; Fanconi anemia complementation group A
CCCAGGGATCCCTGAGGTCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCT
CCCAGGGATCCCTGAGGTCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCACGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCT
Task1_train_23122
This is a variant in FANCA (FA complementation group A), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Fanconi anemia complementation group A
AGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAA
AGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGGTCGCACCAGTGCACTCCAGTATGAGTGATAGAATGAGACTCCACCTCAAAAAAATAAATAAGTAAATAAATAAAATAAATAAATAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGGGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAA
Task1_train_23123
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?
Pathogenic; Fanconi anemia complementation group A
ATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACAGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAAAGTTCACCATCTCCCTGTTTGTTGCCTATTTGCTATATCATCAATTCTGTTTCTCAGGCCCGGTTACTTACTTGTAATGCTTTGTCATATTCACAATAAATATTTTCCAATGTACCAACTGCATTTCAATTTTCCTGCTTTTAAACTGTCAGTAAGGTCAGGCTAGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGTTCTAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTCAAAATACAAAAAGTAGCTGGGCATGGTGGCAGGCGCCTGTAATTCAAGCTTGGCAGGGAATAGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGCAACAGAGTAAGACT
ATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCAGCATCCACTTCTGTGTCCCCTCTTTCCTGATTTCACTCATTTTCTTTTTTTTCTTTTTGGGATGGAGTCTCCTTCTGTCACCCAGGCTGGCGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCCAGGCTCAAGTAATCCTTGCGTCTCAGCCTCCCGAGTAACGAGGACTACAGGTGTCTGCCACCACACCTGCGTAGTTTTTGTTTTGTGTGTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGAGATGAGGTTTCACTATGGTGTCCAGGCTTGATTTCGCTAATTTTCTTATAAAAGACAGCAGGAGGCTCCGTCAACTAAGTGAGACAGAAACCAGGGGAAGGAGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGAACATGCAGAGGAAGATCCGCTGAGGCCCCGACAGGGAGAACCCAGGCTCCTCGGCACACGCAGAGGAAGATCTGCCAAGGCCACTCGGCAAAGCTGACAGCAAGGTTGCTCACTCACATGACAGAGAATCAGGTGGGGACAGCATGGTCCCCACTCCCAGGCCTTCTGGGAAGATCAGGTATTAGGTAGCCGATTGGCAGGTCACTTACCTTGAACCAGTCTGCATATGACAGGAACGCAGAGGGGCCCTCCAGTGCTGCCTGGCGCACAACCAGGAACGCAGTGACCATGCTGTCCAGCTGGCAGCTCTCGAATGCCTGGGCCATCAAACGCGCCACCCAGTCTAGTTAAGAACCATGACATAGTCACAGCAAGGCAAGGGCAGCCAGCAGGAACATGACGTGAGTTATGCTGGGTGATCAAGTATTCCAGAAGGAGACTGTGCACACCCAAACACCAAGTTTTAAAAGACTACACAGCAATTACAGCATGTCAAGTGCAAACCACTAGAGACCTGAATGAAGCAGCAGTGGACACTCTGGCCTCTCAGAGCAGCAGTCAGTGCTTATGGAAGCGTCTGACAAAGAATGTTCCATCGACAGGAGGCACTGCAGGTTCCGGGCAGGTAGGGAAGGGCTTCACTGAGAGGCTCACCCACAGTCAGCTGGGACTCTGCTGACACCCCCCTACACACACTCTTGACCAGCACCACCGGGCTCGCGTAAAAGCTCACCTTCAAGCAGCTGCTGCGCTTCTGGAAAGCAGACAACCAGGGCAGACACAAAGGAGAGCACTCTCTGCCAGTGAACCTCCTGCGTTTCCAGAACTTCTTGCAAATGGCCAACCAACTCCTCTGCACTCAGCATCACAAAGAGCTGAAATAAAAGCATCCGCTCCCTTCAATATCCAAGCAAACCAATGTGCGACAGATGACCCCTCACCTTCCTCCCAGCCGGTGGCCACCGCAGCCCCCTCACTTCCCACTGCAAAGGTAACACATGGAGCTGTGACAGCTCACACCGTGGCGTCTCTCCCCTCACAGTGGCCAGCACCTGCTTGGAGAGAATTCTCCCTATCTCAAGGAGGAGGGGCTCGGCCCAAGGGACAAGTTCAGTCTCCTGACCTGAGTGGTGGCCTTGATGAGGACAGCCACATCTCACCAGACATCCCTGAACCTCTCGATGTGCCGTCCACGGCAGGCAGCATGACAAGTACTAGGCAGATCTTAATCCCCCCGCCACGAGCTCAGAAGCAGGTATAATACCACATCCACTCACCCTGCGGTACCGTGAGGTGAGCAGAGGGTGTGTCCGCGCAAAGCTCCACTCTCTCTGCATCTGAACAGCATCAGATGCTGCAGGGGGAGAAACAGACAAAAACTTCAAGTCAGAGATCAAAAAGTTGTGGGTTTTTGTTAAGGACCAGCCCCACAGGGTCGGTGGGTCTCTCCCCGTGTGCGGCGACGAGAGAGTGTAGAAAGAAAGATACAAGACAAAGAGATAAAAGACAAGACAGCTGGGCCCGGGGGACCACTACCATCAATGCGCGGAGACCGGTAGTGGCCCTGAATGTCTGGTTGTGCTGTTATTTATTGGATACAAAGCAAAAGGGGCAGGGTAAAGAGTGTGAGTCATCTCCAATGATAGGTAAGGTCACGTGTCCACTGGATAGGGGGCCCTTCCCTGCCTGGAAGCCGAGGCAGAGAGGGAGAGGAGATAGAGACAAAGACAGCTTATGCCATTATTTCTGCATATCAGAGACTTTTAGTACTTTCACTAATTTACTACTGCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGGTGGACTAGGAGCGTGACCACTGAAGCACAGCATCACAGGGAGACGGTTAGGCCTCCGGATAACTGTGGGTGAGCCTGACTGATGTCAGGCCCTCCACAAGAGGTGGAGGAGCAGAGTCTTCTCTAAACTCCCGGGGGGAAAGGGAGAGTCCCTTTCCCGGTCTAAGTAGTGAGTGGTGTTCCTTGACACCTTTTGCTACCGCTGGACCACGATCCGCTTGGTGACGGGCGTCTTCCCAGACGCTGCCGTCACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCGGGCATAACAGAAGGCTCACACTCTTGTCTTATGGTCACTTCTCACCATGTCCCCTCAGCTCCTGTCTCTGTATGGCCTGGCTTTTCCTAGGTTATGATTATAGAGCGAGGATTATTATAATATTGCAATAAACAGTAATTACTACCAACTAATGATTAATGATATTCATATGTAATCATATCTAAGATCTATATCTGGTATAACTATTCTTGTTTTATATTTTATTATACTAGAACAGCTCGTGTCCTCGGTCTCTTGCCTTGGTGCCTGGGTGGCTTGCCGCCCACAGGTTTTGTTTTTGGACAGGGTCTCACTATCACCCAGGCTGGAGTGCAGTGCTCACCACAGCCTCGACCTCCCTGGCTCAAGCAATCCACCTGCCTCAGTCTCCCAAGTAGCTGCGACCACAGGCGTGTGCCACCATACCCAGATACTTTTTGTATTTTTATTTTTTTGATGCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAAAGTTCACCATCTCCCTGTTTGTTGCCTATTTGCTATATCATCAATTCTGTTTCTCAGGCCCGGTTACTTACTTGTAATGCTTTGTCATATTCACAATAAATATTTTCCAATGTACCAACTGCATTTCAATTTTCCTGCTTTTAAACTGTCAGTAAGGTCAGGCTAGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGTTCTAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTCAAAATACAAAAAGTAGCTGGGCATGGTGGCAGGCGCCTGTAATTCAAGCTTGGCAGGGAATAGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGCAACAGAGTAAGACT
Task1_train_23124
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?
Pathogenic; Fanconi anemia complementation group A
CCTGCGGCATTTTTTCAGGCTCCACAGTTCTTCTCAGATCTGAGTTTTTCTGAAATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTCTTGCACTTCTATTTGAAAGGGAACAAGTTTATAGTCAGATTTTTTTCTTTTTTTTTTTTTTTGTGAGACGGAGGCTTGCTCTGTCGCCTGGGCTTGAGTGCAATGGTATGATCTCGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCACCAGTAGCTGGGAATATAGGCGCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGTTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGTCACCCCACCCAGCCCAATTTTTTTCTCTTAAATAAAAGTGGTTTCCAAGGGAGGTCTTATGGATTGTCTTGCCTGCCAATCTCCAATACCAGAGGGTCTAGAGGGACCCAGAAGCATCCTATTCTGAGGAATGTGATGGGGGAGGAAAGGCATTCTTAGCTTTTTAAAAAATAAGACCAAGAGGACTGAAATCCACAAGATTTTCTAACTTTGATTTAAATTTAACCTATCTGGTACCAGGTTATAGTAGCTCAGGAATGCTAAGTCGCTCATGCCACCAAAAAGCTTTAGGAAAAAGGAAAAAACCCACAAGCTACTGTACAGATCAGTTTCTCATCTAATTTTTATTTGTAGGTGTCACTTGTAGTGGGATGGGTCTCCCAGCAGGTGTTCCTCAGAACCCAAATATCCCAGAGAGGATCTGAGAACTCACCAAGGAAAAGAGTCTCATCACTCAAACACAGCAGGCAAAGAGCCAGAAAACGAGCTTCAATGCACCTTAGAGACAGGTGGTGGGGCGGTTCTCTAGAGCTGTCCTGCCGCCGTCCAGGAGTGCGCTGAATATAAGTCCTGACAAACCCAACTACTCCTCAAGCTGGATTGGTCCAAGCCATTCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCGAGCCATCCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCAAGCCATCTTCTGACAAACCCAACTACTCCTCAAACTGGGTTGGTCCCTAGTCTGAGCCATCCTCTGGTCTCTCAGCACCTTCTTAGTTTGTGGGGGGACATTACAGTCCCAAGTTTTTCTCATAATATCATTCCTCAGGAAGGCCAGGCATAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGCATCACGAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACCTAATGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTAGCCGGGCATGGTGCCACGTGCCTGCAGTCCCAGCTACTAAGGAGGTTGAGGCAGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAAGGAAGCAGCTGCGGTCACTCTATGGGAAAGGTGAATGGAAACACTTAAACTCATGTCAAGGCCGACTTACTAGTATTTCCACATCAGTCAAGTAAAATGCAACCCCACAACAGGCTGAGACTGGGAGTCTGTCATGCCAGGTTCCCACGGCCACGGAGAGACAGGCTGTTCTGCCTCGCAGAGCTCTTGAGAGCAGAAGGCATTATCACAGATCAAAATGAGTTTTACCCAAGAACCCGCATCTTGTCATGAACGCACCAGAAAGCATGGCCCTGGCGACGTCAGCATGCTGGCAGGATGCTTCCATCTGTTCACAAAGGCAGCACAGATTCCTGAAGAGCCACGATCCCACAGCATGCATGTCGGGATGGCTGGAGACACACACAGAGGCAGACGTAAGGCTCAACTAAATCCCATCATCAGGGGATTGAGTTGAGCCATATGTCCCAATTTTTTTTTTGAGACAGTTTTTTGCTGTCACTGAGGCTGGAGTGCAGTGGCGCAATCAGTCACTGCACCCTCGACCTCCCAGGCTCAAGCAATCCTTCCACCTCAGCCTCCTGAGTAGTTGGGACAACAGGCGCATACCACCACGCCCAGCTGGAGGTCTTACTACTTTGCCCAGGCTGGACTCAAACTCCCGGGCTCAAAACAATCTCCCACCTTGCCCTCCCAAAGTGCTGGGATGACTGGTGTGGCACTGTGCCCAGTCTCAAGTTATTTTCTAATTTCCCTTGTGACTTCTTTGACTCATTATGTTAACTTTCAAATATTGTGGATTTTCCCAATTCCCTTCTGTTGTTTATTCTAATTAAATTCATTTGTGGTTAGAGAACATATTTTGAATGATTTCAGCCCTTCTAAATTTATTCCTCTTTGTTTTATGGCCTGAACCTTTTTTTTTTCTCTTGAAACAGTTTTGCTCTTGTCATCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTACAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCACAACGGCTGGGATTACAGGCACCTGCCACCTTGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCACGTTGGACAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTGGCCTGAACCTTATGCTGTATCCTGGGGACTGTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGA
CCTGCGGCATTTTTTCAGGCTCCACAGTTCTTCTCAGATCTGAGTTTTTCTGAAATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTCTTGCACTTCTATTTGAAAGGGAACAAGTTTATAGTCAGATTTTTTTCTTTTTTTTTTTTTTTGTGAGACGGAGGCTTGCTCTGTCGCCTGGGCTTGAGTGCAATGGTATGATCTCGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCACCAGTAGCTGGGAATATAGGCGCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGTTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGTCACCCCACCCAGCCCAATTTTTTTCTCTTAAATAAAAGTGGTTTCCAAGGGAGGTCTTATGGATTGTCTTGCCTGCCAATCTCCAATACCAGAGGGTCTAGAGGGACCCAGAAGCATCCTATTCTGAGGAATGTGATGGGGGAGGAAAGGCATTCTTAGCTTTTTAAAAAATAAGACCAAGAGGACTGAAATCCACAAGATTTTCTAACTTTGATTTAAATTTAACCTATCTGGTACCAGGTTATAGTAGCTCAGGAATGCTAAGTCGCTCATGCCACCAAAAAGCTTTAGGAAAAAGGAAAAAACCCACAAGCTACTGTACAGATCAGTTTCTCATCTAATTTTTATTTGTAGGTGTCACTTGTAGTGGGATGGGTCTCCCAGCAGGTGTTCCTCAGAACCCAAATATCCCAGAGAGGATCTGAGAACTCACCAAGGAAAAGAGTCTCATCACTCAAACACAGCAGGCAAAGAGCCAGAAAACGAGCTTCAATGCACCTTAGAGACAGGTGGTGGGGCGGTTCTCTAGAGCTGTCCTGCCGCCGTCCAGGAGTGCGCTGAATATAAGTCCTGACAAACCCAACTACTCCTCAAGCTGGATTGGTCCAAGCCATTCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCGAGCCATCCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCAAGCCATCTTCTGACAAACCCAACTACTCCTCAAACTGGGTTGGTCCCTAGTCTGAGCCATCCTCTGGTCTCTCAGCACCTTCTTAGTTTGTGGGGGGACATTACAGTCCCAAGTTTTTCTCATAATATCATTCCTCAGGAAGGCCAGGCATAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGCATCACGAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACCTAATGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTAGCCGGGCATGGTGCCACGTGCCTGCAGTCCCAGCTACTAAGGAGGTTGAGGCAGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAAGGAAGCAGCTGCGGTCACTCTATGGGAAAGGTGAATGGAAACACTTAAACTCATGTCAAGGCCGACTTACTAGTATTTCCACATCAGTCAAGTAAAATGCAACCCCACAACAGGCTGAGACTGGGAGTCTGTCATGCCAGGTTCCCACGGCCACGGAGAGACAGGCTGTTCTGCCTCGCAGAGCTCTTGAGAGCAGAAGGCATTATCACAGATCAAAATGAGTTTTACCCAAGAACCCGCATCTTGTCATGAACGCACCAGAAAGCATGGCCCTGGCGACGTCACCATGCTGGCAGGATGCTTCCATCTGTTCACAAAGGCAGCACAGATTCCTGAAGAGCCACGATCCCACAGCATGCATGTCGGGATGGCTGGAGACACACACAGAGGCAGACGTAAGGCTCAACTAAATCCCATCATCAGGGGATTGAGTTGAGCCATATGTCCCAATTTTTTTTTTGAGACAGTTTTTTGCTGTCACTGAGGCTGGAGTGCAGTGGCGCAATCAGTCACTGCACCCTCGACCTCCCAGGCTCAAGCAATCCTTCCACCTCAGCCTCCTGAGTAGTTGGGACAACAGGCGCATACCACCACGCCCAGCTGGAGGTCTTACTACTTTGCCCAGGCTGGACTCAAACTCCCGGGCTCAAAACAATCTCCCACCTTGCCCTCCCAAAGTGCTGGGATGACTGGTGTGGCACTGTGCCCAGTCTCAAGTTATTTTCTAATTTCCCTTGTGACTTCTTTGACTCATTATGTTAACTTTCAAATATTGTGGATTTTCCCAATTCCCTTCTGTTGTTTATTCTAATTAAATTCATTTGTGGTTAGAGAACATATTTTGAATGATTTCAGCCCTTCTAAATTTATTCCTCTTTGTTTTATGGCCTGAACCTTTTTTTTTTCTCTTGAAACAGTTTTGCTCTTGTCATCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTACAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCACAACGGCTGGGATTACAGGCACCTGCCACCTTGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCACGTTGGACAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTGGCCTGAACCTTATGCTGTATCCTGGGGACTGTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGA
Task1_train_23125
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.
Pathogenic; Fanconi anemia complementation group A
ATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTCTTGCACTTCTATTTGAAAGGGAACAAGTTTATAGTCAGATTTTTTTCTTTTTTTTTTTTTTTGTGAGACGGAGGCTTGCTCTGTCGCCTGGGCTTGAGTGCAATGGTATGATCTCGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCACCAGTAGCTGGGAATATAGGCGCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGTTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGTCACCCCACCCAGCCCAATTTTTTTCTCTTAAATAAAAGTGGTTTCCAAGGGAGGTCTTATGGATTGTCTTGCCTGCCAATCTCCAATACCAGAGGGTCTAGAGGGACCCAGAAGCATCCTATTCTGAGGAATGTGATGGGGGAGGAAAGGCATTCTTAGCTTTTTAAAAAATAAGACCAAGAGGACTGAAATCCACAAGATTTTCTAACTTTGATTTAAATTTAACCTATCTGGTACCAGGTTATAGTAGCTCAGGAATGCTAAGTCGCTCATGCCACCAAAAAGCTTTAGGAAAAAGGAAAAAACCCACAAGCTACTGTACAGATCAGTTTCTCATCTAATTTTTATTTGTAGGTGTCACTTGTAGTGGGATGGGTCTCCCAGCAGGTGTTCCTCAGAACCCAAATATCCCAGAGAGGATCTGAGAACTCACCAAGGAAAAGAGTCTCATCACTCAAACACAGCAGGCAAAGAGCCAGAAAACGAGCTTCAATGCACCTTAGAGACAGGTGGTGGGGCGGTTCTCTAGAGCTGTCCTGCCGCCGTCCAGGAGTGCGCTGAATATAAGTCCTGACAAACCCAACTACTCCTCAAGCTGGATTGGTCCAAGCCATTCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCGAGCCATCCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCAAGCCATCTTCTGACAAACCCAACTACTCCTCAAACTGGGTTGGTCCCTAGTCTGAGCCATCCTCTGGTCTCTCAGCACCTTCTTAGTTTGTGGGGGGACATTACAGTCCCAAGTTTTTCTCATAATATCATTCCTCAGGAAGGCCAGGCATAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGCATCACGAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACCTAATGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTAGCCGGGCATGGTGCCACGTGCCTGCAGTCCCAGCTACTAAGGAGGTTGAGGCAGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAAGGAAGCAGCTGCGGTCACTCTATGGGAAAGGTGAATGGAAACACTTAAACTCATGTCAAGGCCGACTTACTAGTATTTCCACATCAGTCAAGTAAAATGCAACCCCACAACAGGCTGAGACTGGGAGTCTGTCATGCCAGGTTCCCACGGCCACGGAGAGACAGGCTGTTCTGCCTCGCAGAGCTCTTGAGAGCAGAAGGCATTATCACAGATCAAAATGAGTTTTACCCAAGAACCCGCATCTTGTCATGAACGCACCAGAAAGCATGGCCCTGGCGACGTCAGCATGCTGGCAGGATGCTTCCATCTGTTCACAAAGGCAGCACAGATTCCTGAAGAGCCACGATCCCACAGCATGCATGTCGGGATGGCTGGAGACACACACAGAGGCAGACGTAAGGCTCAACTAAATCCCATCATCAGGGGATTGAGTTGAGCCATATGTCCCAATTTTTTTTTTGAGACAGTTTTTTGCTGTCACTGAGGCTGGAGTGCAGTGGCGCAATCAGTCACTGCACCCTCGACCTCCCAGGCTCAAGCAATCCTTCCACCTCAGCCTCCTGAGTAGTTGGGACAACAGGCGCATACCACCACGCCCAGCTGGAGGTCTTACTACTTTGCCCAGGCTGGACTCAAACTCCCGGGCTCAAAACAATCTCCCACCTTGCCCTCCCAAAGTGCTGGGATGACTGGTGTGGCACTGTGCCCAGTCTCAAGTTATTTTCTAATTTCCCTTGTGACTTCTTTGACTCATTATGTTAACTTTCAAATATTGTGGATTTTCCCAATTCCCTTCTGTTGTTTATTCTAATTAAATTCATTTGTGGTTAGAGAACATATTTTGAATGATTTCAGCCCTTCTAAATTTATTCCTCTTTGTTTTATGGCCTGAACCTTTTTTTTTTCTCTTGAAACAGTTTTGCTCTTGTCATCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTACAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCACAACGGCTGGGATTACAGGCACCTGCCACCTTGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCACGTTGGACAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTGGCCTGAACCTTATGCTGTATCCTGGGGACTGTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGAGGCAGGGGCAGAATTGCTTGAATCCGGGAAGCGGAGGTTGCAGCGAGCCCAGAT
ATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTCTTGCACTTCTATTTGAAAGGGAACAAGTTTATAGTCAGATTTTTTTCTTTTTTTTTTTTTTTGTGAGACGGAGGCTTGCTCTGTCGCCTGGGCTTGAGTGCAATGGTATGATCTCGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCACCAGTAGCTGGGAATATAGGCGCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGTTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGTCACCCCACCCAGCCCAATTTTTTTCTCTTAAATAAAAGTGGTTTCCAAGGGAGGTCTTATGGATTGTCTTGCCTGCCAATCTCCAATACCAGAGGGTCTAGAGGGACCCAGAAGCATCCTATTCTGAGGAATGTGATGGGGGAGGAAAGGCATTCTTAGCTTTTTAAAAAATAAGACCAAGAGGACTGAAATCCACAAGATTTTCTAACTTTGATTTAAATTTAACCTATCTGGTACCAGGTTATAGTAGCTCAGGAATGCTAAGTCGCTCATGCCACCAAAAAGCTTTAGGAAAAAGGAAAAAACCCACAAGCTACTGTACAGATCAGTTTCTCATCTAATTTTTATTTGTAGGTGTCACTTGTAGTGGGATGGGTCTCCCAGCAGGTGTTCCTCAGAACCCAAATATCCCAGAGAGGATCTGAGAACTCACCAAGGAAAAGAGTCTCATCACTCAAACACAGCAGGCAAAGAGCCAGAAAACGAGCTTCAATGCACCTTAGAGACAGGTGGTGGGGCGGTTCTCTAGAGCTGTCCTGCCGCCGTCCAGGAGTGCGCTGAATATAAGTCCTGACAAACCCAACTACTCCTCAAGCTGGATTGGTCCAAGCCATTCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCGAGCCATCCTCTGACAAGCCCAACTACTCCTCAAGCTGGACTCTGGTCCAAGCCATCTTCTGACAAACCCAACTACTCCTCAAACTGGGTTGGTCCCTAGTCTGAGCCATCCTCTGGTCTCTCAGCACCTTCTTAGTTTGTGGGGGGACATTACAGTCCCAAGTTTTTCTCATAATATCATTCCTCAGGAAGGCCAGGCATAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGCATCACGAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACCTAATGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTAGCCGGGCATGGTGCCACGTGCCTGCAGTCCCAGCTACTAAGGAGGTTGAGGCAGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAAGGAAGCAGCTGCGGTCACTCTATGGGAAAGGTGAATGGAAACACTTAAACTCATGTCAAGGCCGACTTACTAGTATTTCCACATCAGTCAAGTAAAATGCAACCCCACAACAGGCTGAGACTGGGAGTCTGTCATGCCAGGTTCCCACGGCCACGGAGAGACAGGCTGTTCTGCCTCGCAGAGCTCTTGAGAGCAGAAGGCATTATCACAGATCAAAATGAGTTTTACCCAAGAACCCGCATCTTGTCATGAACGCACCAGAAAGCATGGCCCTGGCGACGTCAGCATGCTGGCAGGATGCTTCCATCTGTTCACAAAGGCAGCACAGATTCCTGAAGCGCCACGATCCCACAGCATGCATGTCGGGATGGCTGGAGACACACACAGAGGCAGACGTAAGGCTCAACTAAATCCCATCATCAGGGGATTGAGTTGAGCCATATGTCCCAATTTTTTTTTTGAGACAGTTTTTTGCTGTCACTGAGGCTGGAGTGCAGTGGCGCAATCAGTCACTGCACCCTCGACCTCCCAGGCTCAAGCAATCCTTCCACCTCAGCCTCCTGAGTAGTTGGGACAACAGGCGCATACCACCACGCCCAGCTGGAGGTCTTACTACTTTGCCCAGGCTGGACTCAAACTCCCGGGCTCAAAACAATCTCCCACCTTGCCCTCCCAAAGTGCTGGGATGACTGGTGTGGCACTGTGCCCAGTCTCAAGTTATTTTCTAATTTCCCTTGTGACTTCTTTGACTCATTATGTTAACTTTCAAATATTGTGGATTTTCCCAATTCCCTTCTGTTGTTTATTCTAATTAAATTCATTTGTGGTTAGAGAACATATTTTGAATGATTTCAGCCCTTCTAAATTTATTCCTCTTTGTTTTATGGCCTGAACCTTTTTTTTTTCTCTTGAAACAGTTTTGCTCTTGTCATCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTACAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCACAACGGCTGGGATTACAGGCACCTGCCACCTTGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCACGTTGGACAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTGGCCTGAACCTTATGCTGTATCCTGGGGACTGTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGAGGCAGGGGCAGAATTGCTTGAATCCGGGAAGCGGAGGTTGCAGCGAGCCCAGAT
Task1_train_23126
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?
Pathogenic; Fanconi anemia complementation group A
GTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGAGGCAGGGGCAGAATTGCTTGAATCCGGGAAGCGGAGGTTGCAGCGAGCCCAGATCTCACCACTGCACTCCAGCCTGGCGACATAGCAGGTCTCTGTCTCAAAAAGAAAAAAAAAGGCCGCGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGGGAATCACCTGAGGTTAGGAGTTTGACACCAGCCTGGCTAACATGGCGAAACCACATCTCTACTAAAAATAACAAAAATTGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCGCTTTGGGAGGCAGAGGCGGGCAGATCCTGAAGTCAGGAGATGGAGCCCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCCTGCAGTGAGCCGACATCACGTCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCTGTCCCTAAAAAAAATAAATACATAACAAAAATTAGCTGCGTGTGGTGGCGGGCGCCTGTAATCCCAGCGACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGTGGAGGTTGTAGTGAGCTGAAATCGTGCCACTGCACTCCCACCTGGGCCACAGAGCGAGACTCCGTCTCAAAAAAAAAACAGACAAAAAGCAAACAAAACCAAAACACCATAAACGTTCTCTTGAAATAATAAAGCAATAGTTCCTCCAGGTCTAGTCTAGTATAAATATGCAATGCAATCTAGTCTAGTACAAATTATATGTCAAAGCCAGAAATCAAACCCGTCTGATTCTGGGCTTTGAAATATAATTTATACTAGACTAGACTGCAAAAACAGTAACACTGAATCATCATTAGCACGCTACCTTTCCAGCAGCTCTTGCAGGCTCACAATGCCTTGTACGTGAAGATGCCACACCGCTTCAAGCAACAAAGAACTCTGAAAAACAAAACAAAACAAACAAAAACAAAAACAAAAAAACCCCCAGCATTCTGAGTCCTTTATGAATGCATTTTCCTACAAAATGTTCAACTTAGGTTCTTAACCATGCCGTATTGAAAATTAACCTCAAGCAAAAACTTAGAGCCTGAAACACATCTTTTTTTACAAAGCTGTACTGGTTTTCAAACTCCCTGGCCTTTGGGCACCCACACACCGTTGCCCAACACTTGCTTCTCTTCCTTCTCTCTTCCTACGCACTGTAGCCTACTTCTAACCCTTTCTCCACACTACAGCCAACACAGTATTACACACACTGACATGACAGTCTCTCCTTCAGAAGCCTTCACTGGCTCCTCGAAGCTGCCAGGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCACAGTCCGTGCAGGAAGGCTTTCCTAACTCTCCAATCTGATATGCATGTCCAACATCTTCTTCGCAAATCTGTGAGCACATGAATCATCGCACTTCTTGTGGATTTAGTGGCTTGTTTCCCAAGCTACGTGATAATGAGGGCAGGGACCAAAGCAATAACTGAAAAATCTAATGAATTCTATAATGTATGCTGGATAAAAGAATGGGAAAGGCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAATTGAAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAGATACAAAAATTGGGCAGGGCGCGGTGACTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGACGTTGCGATAAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGATACAAAAATTAACTGGGCATGGTGGCACGCGCCTGTAATCCCAGCTACTAAGGTGGCTGAGGCAGGACAATCGCTTGAACCTGGGAGGCAGACGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGCAGAGCAATATTCTGTCTCAAAAATAAAAATAAATGCCAGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTGCTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGTCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGGGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGTGCGACAGAGCGAGACTTCGTCTCAAAAAAAAAAAAAAAAGAC
GTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGAGGCAGGGGCAGAATTGCTTGAATCCGGGAAGCGGAGGTTGCAGCGAGCCCAGATCTCACCACTGCACTCCAGCCTGGCGACATAGCAGGTCTCTGTCTCAAAAAGAAAAAAAAAGGCCGCGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGGGAATCACCTGAGGTTAGGAGTTTGACACCAGCCTGGCTAACATGGCGAAACCACATCTCTACTAAAAATAACAAAAATTGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCGCTTTGGGAGGCAGAGGCGGGCAGATCCTGAAGTCAGGAGATGGAGCCCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCCTGCAGTGAGCCGACATCACGTCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCTGTCCCTAAAAAAAATAAATACATAACAAAAATTAGCTGCGTGTGGTGGCGGGCGCCTGTAATCCCAGCGACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGTGGAGGTTGTAGTGAGCTGAAATCGTGCCACTGCACTCCCACCTGGGCCACAGAGCGAGACTCCGTCTCAAAAAAAAAACAGACAAAAAGCAAACAAAACCAAAACACCATAAACGTTCTCTTGAAATAATAAAGCAATAGTTCCTCCAGGTCTAGTCTAGTATAAATATGCAATGCAATCTAGTCTAGTACAAATTATATGTCAAAGCCAGAAATCAAACCCGTCTGATTCTGGGCTTTGAAATATAATTTATACTAGACTAGACTGCAAAAACAGTAACACTGAATCATCATTAGCACGCTACGTTTCCAGCAGCTCTTGCAGGCTCACAATGCCTTGTACGTGAAGATGCCACACCGCTTCAAGCAACAAAGAACTCTGAAAAACAAAACAAAACAAACAAAAACAAAAACAAAAAAACCCCCAGCATTCTGAGTCCTTTATGAATGCATTTTCCTACAAAATGTTCAACTTAGGTTCTTAACCATGCCGTATTGAAAATTAACCTCAAGCAAAAACTTAGAGCCTGAAACACATCTTTTTTTACAAAGCTGTACTGGTTTTCAAACTCCCTGGCCTTTGGGCACCCACACACCGTTGCCCAACACTTGCTTCTCTTCCTTCTCTCTTCCTACGCACTGTAGCCTACTTCTAACCCTTTCTCCACACTACAGCCAACACAGTATTACACACACTGACATGACAGTCTCTCCTTCAGAAGCCTTCACTGGCTCCTCGAAGCTGCCAGGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCACAGTCCGTGCAGGAAGGCTTTCCTAACTCTCCAATCTGATATGCATGTCCAACATCTTCTTCGCAAATCTGTGAGCACATGAATCATCGCACTTCTTGTGGATTTAGTGGCTTGTTTCCCAAGCTACGTGATAATGAGGGCAGGGACCAAAGCAATAACTGAAAAATCTAATGAATTCTATAATGTATGCTGGATAAAAGAATGGGAAAGGCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAATTGAAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAGATACAAAAATTGGGCAGGGCGCGGTGACTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGACGTTGCGATAAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGATACAAAAATTAACTGGGCATGGTGGCACGCGCCTGTAATCCCAGCTACTAAGGTGGCTGAGGCAGGACAATCGCTTGAACCTGGGAGGCAGACGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGCAGAGCAATATTCTGTCTCAAAAATAAAAATAAATGCCAGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTGCTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGTCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGGGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGTGCGACAGAGCGAGACTTCGTCTCAAAAAAAAAAAAAAAAGAC
Task1_train_23127
Consider a variant on Chromosome 16 in gene FANCA (FA complementation group A). Determine its clinical classification and disease relevance.
Pathogenic; Fanconi anemia
CCTTCACTGGCTCCTCGAAGCTGCCAGGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCACAGTCCGTGCAGGAAGGCTTTCCTAACTCTCCAATCTGATATGCATGTCCAACATCTTCTTCGCAAATCTGTGAGCACATGAATCATCGCACTTCTTGTGGATTTAGTGGCTTGTTTCCCAAGCTACGTGATAATGAGGGCAGGGACCAAAGCAATAACTGAAAAATCTAATGAATTCTATAATGTATGCTGGATAAAAGAATGGGAAAGGCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAATTGAAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAGATACAAAAATTGGGCAGGGCGCGGTGACTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGACGTTGCGATAAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGATACAAAAATTAACTGGGCATGGTGGCACGCGCCTGTAATCCCAGCTACTAAGGTGGCTGAGGCAGGACAATCGCTTGAACCTGGGAGGCAGACGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGCAGAGCAATATTCTGTCTCAAAAATAAAAATAAATGCCAGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTGCTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGTCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGGGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGTGCGACAGAGCGAGACTTCGTCTCAAAAAAAAAAAAAAAAGACCAGCCTGGGCAACAAGGCGAGACCCTGTCTCTGGAAAAAAAAATTACATACATTTTTTTTTAATAGTTTACTATACTACCCTGGAAAATTCTCCATACTAATATACCCAAGGCTAAACGTGTTTTTCAATATATTCTAGTCTAATAAATATTACTAATGATAGGTGAATAGGGACAAAAAATGGCAATTGAAGGTACTTCTTTCCAATCCACAGATGATTTCTAAACCCTTTTTCATCCACTCTCTGTAATTAATGAGAAGCTTGGAGAATTCCCAAGAAAACCCAGGTACTCTGTTGCCTCCATCCAGATCAACAGAACATTGCCTGGAACACTGGAGAGTCAGATTTGCAATCTCAAATTTACCTGTATTTTCCATAATTCTTGACAGAAGGAAAGACGGGAGAACATACTGTGTGCCAATAAATACTGAGCAAACTCTAACAGGGAAGACAGCTTCTTCTGAAAAGAGAGATTACATTTTTTAAAAAACAAATTACCTGAAACAATACTAAAGCTATGTCCTATTTTCCCAACCAGCTTAAAAGTAACAACGGGCAGGTTTCCTCATCTTTGCTGGTGTCTTACTCTCTGCTCCACAGTCAGCAGCACAGGGTGACTGGTCTCCGCTGGAGCCGTGCAGATCTGTCCCACGCTAGAGGCAACCATCCCGGCTGAGAGAATACCCACGGGAACCCCCAGCCTTGAGGCTTGATCCTGCAAAGCAGAGCCTTAAACACAAAACAAAACCATAGCTTTCTCTTAACACATGAGACAAAATCTAAAACCAAAGACTTGCTGTTTAAAATGCCTTATTTTAAGATGCAGCACAAAAAAAATTGCCTTTTAAACGGGGAGAATAGATGCAAAGGGAAAAACATGAGATAAAAATGAGAATTTGATGATCCAAGCAGCTCACAATAAAACTGGTGGCAACACCTGAACCCAGAGTTATACATTGGTATTTGTTACGTTTCCCATGACACAAAAGGAGCAAGATAAAGAAATATATTCTGACCAAGAACTTTATCATCTTTTTACAAAGGAGCACAATAAATTGAGAACTGCAGCAGGCTCTTTCAATTACATTGTTTTTCTAATTACTTCAGAGATAAGCCTGCCCCTGTTGACTCACATTGATGGTTGTGATAAAATTAGGCAGGGATTTCCCAACATTCTGCCATGCACCTGGTGGGCAGGTGCAGTCACAGCTGTGCTCAGTCCGCAGGCCACCAAGTGGAACCTCACTAACAGCCTGCAGGCAGCCACCATTCTCCTGAGCAACCAGCCACTGGTCTGCATTCAATAAAGTGAGAAACGGTGGGCAACCTGGAAGCAGGCAATGCCAAGAAATCATTTTCTAATTTATTTGTCTTCCAAAATTAATTTTTTTTTGTTTTATTTTTTTGCAATGGTGTCTTACACTGCCGCCTGGACTGAAGTGCAACGGCGCCATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACTACGCCCAGTTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCTAGGCTCGTCTCCAATTCCCAACCTCATTAATCCGCCCGCCTCGGCCTCCCATACTGCTGGGATTACAGGTGTGAGCCACCACGTGAGCCAAAATTAATTGTTTAAAGAAACCGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAGACACAAAAACAAAATTAGCCAGGTTTGGTGACGGGAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGAAGAATGGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCGAGATCACGCCACTACACTGCAGTCTGGGCGACAGAGCCAGACTTCATCTCAAAAAAACAAAACAAAAAAAAACTGGAGGCCAGGCTCAGTGGGTCCCTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCG
CCTTCACTGGCTCCTCGAAGCTGCCAGGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCACAGTCCGTGCAGGAAGGCTTTCCTAACTCTCCAATCTGATATGCATGTCCAACATCTTCTTCGCAAATCTGTGAGCACATGAATCATCGCACTTCTTGTGGATTTAGTGGCTTGTTTCCCAAGCTACGTGATAATGAGGGCAGGGACCAAAGCAATAACTGAAAAATCTAATGAATTCTATAATGTATGCTGGATAAAAGAATGGGAAAGGCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAATTGAAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAGATACAAAAATTGGGCAGGGCGCGGTGACTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGACGTTGCGATAAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGATACAAAAATTAACTGGGCATGGTGGCACGCGCCTGTAATCCCAGCTACTAAGGTGGCTGAGGCAGGACAATCGCTTGAACCTGGGAGGCAGACGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGCAGAGCAATATTCTGTCTCAAAAATAAAAATAAATGCCAGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTGCTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGTCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGGGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGTGCGACAGAGCGAGACTTCGTCTCAAAAAAAAAAAAAAAAGACCAGCCTGGGCAACAAGGCGAGACCCTGTCTCTGGAAAAAAAAATTACATACATTTTTTTTTAATAGTTTACTATACTACCCTGGAAAATTCTCCATACTAATATACCCAAGGCTAAACGTGTTTTTCAATATATTCTAGTCTAATAAATATTACTAATGATAGGTGAATAGGGACAAAAAATGGCAATTGAAGGTACTTCTTTCCAATCCACAGATGATTTCTAAACCCTTTTTCATCCACTCTCTGTAATTAATGAGAAGCTTGGAGAATTCCCAAGAAAACCCAGGTACTCTGTTGCCTCCATCCAGATCAACAGAACATTGCCTGGAACACTGGAGAGTCAGATTTGCAATCTCAAATTTACCTGTATTTTCCATAATTCTTGACAGAAGGAAAGACGGGAGAACATACTGTGTACCAATAAATACTGAGCAAACTCTAACAGGGAAGACAGCTTCTTCTGAAAAGAGAGATTACATTTTTTAAAAAACAAATTACCTGAAACAATACTAAAGCTATGTCCTATTTTCCCAACCAGCTTAAAAGTAACAACGGGCAGGTTTCCTCATCTTTGCTGGTGTCTTACTCTCTGCTCCACAGTCAGCAGCACAGGGTGACTGGTCTCCGCTGGAGCCGTGCAGATCTGTCCCACGCTAGAGGCAACCATCCCGGCTGAGAGAATACCCACGGGAACCCCCAGCCTTGAGGCTTGATCCTGCAAAGCAGAGCCTTAAACACAAAACAAAACCATAGCTTTCTCTTAACACATGAGACAAAATCTAAAACCAAAGACTTGCTGTTTAAAATGCCTTATTTTAAGATGCAGCACAAAAAAAATTGCCTTTTAAACGGGGAGAATAGATGCAAAGGGAAAAACATGAGATAAAAATGAGAATTTGATGATCCAAGCAGCTCACAATAAAACTGGTGGCAACACCTGAACCCAGAGTTATACATTGGTATTTGTTACGTTTCCCATGACACAAAAGGAGCAAGATAAAGAAATATATTCTGACCAAGAACTTTATCATCTTTTTACAAAGGAGCACAATAAATTGAGAACTGCAGCAGGCTCTTTCAATTACATTGTTTTTCTAATTACTTCAGAGATAAGCCTGCCCCTGTTGACTCACATTGATGGTTGTGATAAAATTAGGCAGGGATTTCCCAACATTCTGCCATGCACCTGGTGGGCAGGTGCAGTCACAGCTGTGCTCAGTCCGCAGGCCACCAAGTGGAACCTCACTAACAGCCTGCAGGCAGCCACCATTCTCCTGAGCAACCAGCCACTGGTCTGCATTCAATAAAGTGAGAAACGGTGGGCAACCTGGAAGCAGGCAATGCCAAGAAATCATTTTCTAATTTATTTGTCTTCCAAAATTAATTTTTTTTTGTTTTATTTTTTTGCAATGGTGTCTTACACTGCCGCCTGGACTGAAGTGCAACGGCGCCATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACTACGCCCAGTTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCTAGGCTCGTCTCCAATTCCCAACCTCATTAATCCGCCCGCCTCGGCCTCCCATACTGCTGGGATTACAGGTGTGAGCCACCACGTGAGCCAAAATTAATTGTTTAAAGAAACCGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAGACACAAAAACAAAATTAGCCAGGTTTGGTGACGGGAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGAAGAATGGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCGAGATCACGCCACTACACTGCAGTCTGGGCGACAGAGCCAGACTTCATCTCAAAAAAACAAAACAAAAAAAAACTGGAGGCCAGGCTCAGTGGGTCCCTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCG
Task1_train_23128
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?
Pathogenic; Fanconi anemia
GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACCTGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
Task1_train_23129
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?
Pathogenic; Fanconi anemia complementation group A
GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACGTGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
Task1_train_23130
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.
Pathogenic; Fanconi anemia
GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACGTGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGA
Task1_train_23131
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?
Pathogenic; Fanconi anemia complementation group A
TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACACGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
Task1_train_23132
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.
Pathogenic; Fanconi anemia
TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACACGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
Task1_train_23133
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?
Pathogenic; Fanconi anemia
TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACAGGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
Task1_train_23134
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?
Pathogenic; Fanconi anemia complementation group A
TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACATGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCACCCCACTGCATACCAGCCCAGGCTACAGTGTGAGACTTTGTCTCAAAAAAAATAAATGAAAATAAAAAATAAAAATAAAAAAAATTCAAGATCTGTGCATAAACACAACCTGTGTGTAAGTAATGCTTCCCTACTGGGCTATTTTCCTTTTTTTCTTTTTTGAGAGGGAGTCTCACTGTCGTCCAGGCTGGAGTGCAATGGCGGGATCTCACTCACGGCGACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGACACCTGCTACCATACCCGGCTAATTTTTGTATTTTAAGTAGTGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCTACCCACTTCGGCCTCCCAAAGGGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGTCTCACTCTGTAATCCAGACTGGATTGCAAGGGGCGTGATCTCGGCTCACTGCAATTTCTGCCTCCCGGGTCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTAAAGGCGTGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCTGAGTGATCCACCCGCCTTGGCCTCCCCAAAAGCTGGGATTACAGCCCTGAGCCACGGCGCCCGGCCTGTTTTTTTGTTGTTGTTGTTTTGTTTTTAATAAAAGAGGCGGGGTCTCACCCCGTTGCCCAGGTTGGTCCAGAACTCCCGGGCTCAGGCGACCCTCCCCTCTGCGGGCCAGGCCACCGCGCCCGCCGCCTCGGGTGTTTTCTTAGGAAAGCTGTGCGGTGGCTGGACTCAAAAACCCCGAACCTAAATCTGCCCGCAGACGGACACCAGCTTCCTCTTACCTCAAGCAAAAGGGCATTCAGGTCCTGATGGCTTCGCAGGAGGCGCACAGCTGATTCCTTTAATTTCTGTGCCCTTTCAGGATTATATTTTTCCCTCTTGACCCTTCCCGCTACGGAGAGAAGTCGGTTCGAAACCATCACAGCACAATTCACACACGGGGTCCCCGGCCCGACGCGCAGGTGGACGCCGCGGAGAAACCCACCAGCGACACCCTCCCGAAGAGGGGCCGGGGCTCCTCCCCAGGGCGCAGGTCTCGGGAAACTAACGGAGACGGCCCCACCGCGGACGCCGGGGAAGACGGCCCAGGAGGGCCCGAGGCAGGGGAGCCCGGGGACGGCTGGCGAGGGGCGGCCTCTGCGCTGAGGGGAGCCCCAGGCCGCGCACCCCAGGCCCGCCTGACAGGGCGGCCGGCGGGGGCGGCGTTCGGGAAAGAAGGGAGCGCCCCGCGGGCGGCGGCTGGGGGCGTCCGCCCAGGCGCAGGAGGGGCCGGGTCCGAGGCAGCCGCGCCGCCCCAGCCGGGCGCCCACCCCGCACAGCCCCCCGGGCGCGGCGTCCGGGGATCCGACCGGCGGAGGCTCTGGCGGGAAGGGATCGGGGAACCGGCGAAACCGTCCCGGGCCGGACGCCGCCCACTCCCGCGGCCTGCCGCGCCCACCTACCCAGCAGCTCGGCCCAGGCCCTCCGGCGGCCCCCTGGGTCCTGGCCCGAGGCGGAGTTCGGGACCCACGAGTCGGACAGGGCCTTGGCGCCTACAGCCCCGGCGGCGGCTCCCTGCGCCCGAGCCCGCGCTGCCTTCCTATTGGCTGCGGCCAGGCGCGCACACCCGTTGGCTGGCGGCGGCCAGGCCACGCCCCTCAGGTCGAGGCCTTGCGTCGTGGCCATGTTGGTCCTGGGGGAGGCGCCTGCGCGCGGTGAGGTAGTTTTTGCGTTTGGCTTTGCCGCCGCGGTGTAGTCCGCGGGGGCGTCTCGCGCGGGCAGACTGCCGCCCCTCAAGCGTGGTTCCTGCCGGGAATGACTGGGGTTGGTCCTGAAGAGACCACCTGGCCAACCAAGCCGAGGCAGGCTCAGAGCGCCGCGGGGAGCGCAAAGCCGCGCGCGCCTCTGAGCTCCGGGCAGCCGCTGTTCCTCCCGGCGGCCGAACGGTCCGCGCGCAGGGCGGTGTTTCGGCAGCCGGAGACCGCGCGGTAGCCGCGCCTGTATTCCCAGCGCTTTGGGAGGCCGAGGCTGGAGGGTCGCTTGAGCCCAGGAATTCCAGACTAGCCTGGGCAACAGAGCGAGACCCCATCACTTTTGTTTCTTTTCTTTTTTTTTTTTTTCCTTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGCGCGCCACCACGCCTGGATGATTTTTGTTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGCCCAGGCTAGTCTCGAACTCCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGAGACCCTATCTTTTAACCAGCCTGGGCGGCAGAGCGAGACTCTGTCTCAAAACAAAACCAAACATAAGAATTCGTAAAAGCGAGTGCCTAGGCGAAGCTAATGTGCCTCAAAGTCCTGGGTAAGTAGAGGCCCTGGAGACCCGTCCGCATCCTCTGGCAGTGGCCTTGGAACCACCGAAGGGATTCAGCCGAAGGGCCGCGTTCCCGGCAGGCGTCTTTATTGTGTTGATTACGTAGATGGCGTAGATGACGTAGATGACGTTCAGCACCACAAACGAAGAGCCGAGGCACAGAGTGGGGCCTTGGATTCATGAGATGGGGATGGAGCAGAAATGAGAATTCGGAGTCCATGAAACCCCCACAAAGACTCCTGCACGGCCCGACTCGGACACTTTGCAATCTGCTGGTTGAGGGGGATGGTGTGAACTCAGGGAACAGCCTGAGATCGCGCCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTCAAAAACAAAAAATAACACTAAGCAATTAACAGGACTAGACTCAGAGGTGATCGAGAAATTGAAACAGGCTGGAAATTTAAATTAACTGTGATTAATATGTGGAGGTCTCTTGTACGAAAGGTGAACAATATGCATGAGGAGGAAACTCATCAAATTATAAGAAAGGAAGAACGCTGATAACAGGTAATTTTTCTGATGGGGCAGCAGTAGGATCAACACAGCTGAGAAAAATAGGAATTACCCACGTTGGAAAATAAAGAAGAAAAAAAGTTTTTTTTTAAAAAAAGCATCCAAGAACTGTGGGAAAATATCAAATGATATCATATGCATGTAATAGGACTCCCAAAAGAAGAAGAAAGAACAAATCATAAAAAATGTTTGAAGAGAAAATTACCAATAATTTTCCCAAAATAATGAAAGACCTGAGCTCAGAGCACACACAAAACTTGATAAATATGAGCCCCTGCCTGACACATGCAGTGTATTCAAACTGTGGAAATCAGAGAGAAAACCATGAAGATGGCCGGAGGAAAAAGATACGTTAAATACAGTAACAAAGGTAAGAATTCCAGCCTGGGCAATATGGCAAGACCTCGTCTCTACAAAAAATACAAAATTTTTTTTTTGTATTTTTTGTATTGCCCAGTGTGGTGACACGAGCCTGTAGTCCTGTGGGCGGAGAA
Task1_train_23135
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?
Pathogenic; TUBB3-related tubulinopathy
CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTCTAGGCTCCGCTCGGCAGCTGTCATGGGAGCAGAGTCCGAGAAGCACTGCAGGCACCTGCTCTAGGGGGAGAGAGGTGGAGGTGGCAGGTAGAGAGAGGACGACCCCTGGGAGCTGAGACGATGCCAGCCTCACACGGACAGGCTGGGTGACCTCAGGCAAGTCGCTTCCCATTTGGGACCCCAAGGACCCTTCTGCAGACCCAGCTGGGGGTCCCCGATGAGACTGGCTCTCAGAGTCCCTGTGAGTCCCGTCAGCTGAGGCCAGTAATGTCCTGGCACCATCACTGGACATGGTTTGCTCTCCCATGGAGGGGCAGGTGTAGCAGCCAAAAGCGATCCTGAGCTCTGGGCCTCTGAACCCTGCTCTGCCAGCTACTGTGGGTGTCTCTACCCGCTCTGTGTCTCAGTTCCCTTTCCTGAAAAGAGGGGATAGTAAAAACTAACCCTCAAGGTGTTTATTACCAATGCCCTTCATGGAGGAATCCGCTGCTCCAGGCCCTTGCCAGCAGCTGCACAGCTGGGCCTGGGGACCTGGGTGTGGGTCTGTTGAACCTTGGCCCACCCTGGGGCTGTGGTCGGCCTGGACGTGTAGGTGTGGAGGTGCATATTTATTATGGCAATTTTCTGACAGGTAACAGAGTGTGGGGCTCTCTTCTGAATGGGGCTCGTGGAGGCCGTGGGTCAAAAGCCCTAATTTTGTAGTGAGGGCTAAAAGGCTTCACAAGGGAAAGGGCCTGGCTGGGGCTATGGGCCGGTGCCGACCCCCCCTCTCCCACTTTGTTTGCAGTTCTGGGAAGTCATCAGTGATGAGCATGGCATCGACCCCAGCGGCAACTACGTGGGCGACTCGGACTTGCAGCTGGAGCGGATCAGCGTCTACTACAACGAGGCCTCTTGTGAGTGCCTGCCCCAGCCTCCCTATCCCAGCCCTGGACTGACCAGGTCTCAGCGTCTGACTGACCAGGTCTCAGCACCTGGACTCACCAGCTCTCAGCATCTCTGTCCTCCCATGGGTTAGGTTGGCTGAGATGCCAGCAGGCGTAACTGGATGTCAGGCATCCAGACGCACAGAACAGACAATAAATCACAGTCACAAAAGTGAGAGCCAAACATATTAGTGCCATGAGGGCCTGTGCGTGTCCAGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGA
CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTCTAGGCTCCGCTCGGCAGCTGTCATGGGAGCAGAGTCCGAGAAGCACTGCAGGCACCTGCTCTAGGGGGAGAGAGGTGGAGGTGGCAGGTAGAGAGAGGACGACCCCTGGGAGCTGAGACGATGCCAGCCTCACACGGACAGGCTGGGTGACCTCAGGCAAGTCGCTTCCCATTTGGGACCCCAAGGACCCTTCTGCAGACCCAGCTGGGGGTCCCCGATGAGACTGGCTCTCAGAGTCCCTGTGAGTCCCGTCAGCTGAGGCCAGTAATGTCCTGGCACCATCACTGGACATGGTTTGCTCTCCCATGGAGGGGCAGGTGTAGCAGCCAAAAGCGATCCTGAGCTCTGGGCCTCTGAACCCTGCTCTGCCAGCTACTGTGGGTGTCTCTACCCGCTCTGTGTCTCAGTTCCCTTTCCTGAAAAGAGGGGATAGTAAAAACTAACCCTCAAGGTGTTTATTACCAATGCCCTTCATGGAGGAATCCGCTGCTCCAGGCCCTTGCCAGCAGCTGCACAGCTGGGCCTGGGGACCTGGGTGTGGGTCTGTTGAACCTTGGCCCACCCTGGGGCTGTGGTCGGCCTGGACGTGTAGGTGTGGAGGTGCATATTTATTATGGCAATTTTCTGACAGGTAACAGAGTGTGGGGCTCTCTTCTGAATGGGGCTCGTGGAGGCCGTGGGTCAAAAGCCCTAATTTTGTAGTGAGGGCTAAAAGGCTTCACAAGGGAAAGGGCCTGGCTGGGGCTATGGGCCGGTGCCGACCCCCCCTCTCCCACTTTGTTTGCAGTTCTGGGAAGTCATCAGTGATGAGCATGGCATCGACCCCAGCGGCAACTACGTGGGCGACTCGGACTTGCAGCTGGAGCGGATCAGCGTCTACTACAACGAGGCCTCTTGTGAGTGCCTGCCCCAGCCTCCCTATCCCAGCCCTGGACTGACCAGGTCTCAGCGTCTGACTGACCAGGTCTCAGCACCTGGACTCACCAGCTCTCAGCATCTCTGTCCTCCCATGGGTTAGGTTGGCTGAGATGCCAGCAGGCGTAACTGGATGTCAGGCATCCAGACGCACAGAACAGACAATAAATCACAGTCACAAAAGTGAGAGCCAAACATATTAGTGCCATGAGGGCCTGTGCGTGTCCAGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCAGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGA
Task1_train_23136
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?
Pathogenic; TUBB3-related disorder
CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTCTAGGCTCCGCTCGGCAGCTGTCATGGGAGCAGAGTCCGAGAAGCACTGCAGGCACCTGCTCTAGGGGGAGAGAGGTGGAGGTGGCAGGTAGAGAGAGGACGACCCCTGGGAGCTGAGACGATGCCAGCCTCACACGGACAGGCTGGGTGACCTCAGGCAAGTCGCTTCCCATTTGGGACCCCAAGGACCCTTCTGCAGACCCAGCTGGGGGTCCCCGATGAGACTGGCTCTCAGAGTCCCTGTGAGTCCCGTCAGCTGAGGCCAGTAATGTCCTGGCACCATCACTGGACATGGTTTGCTCTCCCATGGAGGGGCAGGTGTAGCAGCCAAAAGCGATCCTGAGCTCTGGGCCTCTGAACCCTGCTCTGCCAGCTACTGTGGGTGTCTCTACCCGCTCTGTGTCTCAGTTCCCTTTCCTGAAAAGAGGGGATAGTAAAAACTAACCCTCAAGGTGTTTATTACCAATGCCCTTCATGGAGGAATCCGCTGCTCCAGGCCCTTGCCAGCAGCTGCACAGCTGGGCCTGGGGACCTGGGTGTGGGTCTGTTGAACCTTGGCCCACCCTGGGGCTGTGGTCGGCCTGGACGTGTAGGTGTGGAGGTGCATATTTATTATGGCAATTTTCTGACAGGTAACAGAGTGTGGGGCTCTCTTCTGAATGGGGCTCGTGGAGGCCGTGGGTCAAAAGCCCTAATTTTGTAGTGAGGGCTAAAAGGCTTCACAAGGGAAAGGGCCTGGCTGGGGCTATGGGCCGGTGCCGACCCCCCCTCTCCCACTTTGTTTGCAGTTCTGGGAAGTCATCAGTGATGAGCATGGCATCGACCCCAGCGGCAACTACGTGGGCGACTCGGACTTGCAGCTGGAGCGGATCAGCGTCTACTACAACGAGGCCTCTTGTGAGTGCCTGCCCCAGCCTCCCTATCCCAGCCCTGGACTGACCAGGTCTCAGCGTCTGACTGACCAGGTCTCAGCACCTGGACTCACCAGCTCTCAGCATCTCTGTCCTCCCATGGGTTAGGTTGGCTGAGATGCCAGCAGGCGTAACTGGATGTCAGGCATCCAGACGCACAGAACAGACAATAAATCACAGTCACAAAAGTGAGAGCCAAACATATTAGTGCCATGAGGGCCTGTGCGTGTCCAGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGA
CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTCTAGGCTCCGCTCGGCAGCTGTCATGGGAGCAGAGTCCGAGAAGCACTGCAGGCACCTGCTCTAGGGGGAGAGAGGTGGAGGTGGCAGGTAGAGAGAGGACGACCCCTGGGAGCTGAGACGATGCCAGCCTCACACGGACAGGCTGGGTGACCTCAGGCAAGTCGCTTCCCATTTGGGACCCCAAGGACCCTTCTGCAGACCCAGCTGGGGGTCCCCGATGAGACTGGCTCTCAGAGTCCCTGTGAGTCCCGTCAGCTGAGGCCAGTAATGTCCTGGCACCATCACTGGACATGGTTTGCTCTCCCATGGAGGGGCAGGTGTAGCAGCCAAAAGCGATCCTGAGCTCTGGGCCTCTGAACCCTGCTCTGCCAGCTACTGTGGGTGTCTCTACCCGCTCTGTGTCTCAGTTCCCTTTCCTGAAAAGAGGGGATAGTAAAAACTAACCCTCAAGGTGTTTATTACCAATGCCCTTCATGGAGGAATCCGCTGCTCCAGGCCCTTGCCAGCAGCTGCACAGCTGGGCCTGGGGACCTGGGTGTGGGTCTGTTGAACCTTGGCCCACCCTGGGGCTGTGGTCGGCCTGGACGTGTAGGTGTGGAGGTGCATATTTATTATGGCAATTTTCTGACAGGTAACAGAGTGTGGGGCTCTCTTCTGAATGGGGCTCGTGGAGGCCGTGGGTCAAAAGCCCTAATTTTGTAGTGAGGGCTAAAAGGCTTCACAAGGGAAAGGGCCTGGCTGGGGCTATGGGCCGGTGCCGACCCCCCCTCTCCCACTTTGTTTGCAGTTCTGGGAAGTCATCAGTGATGAGCATGGCATCGACCCCAGCGGCAACTACGTGGGCGACTCGGACTTGCAGCTGGAGCGGATCAGCGTCTACTACAACGAGGCCTCTTGTGAGTGCCTGCCCCAGCCTCCCTATCCCAGCCCTGGACTGACCAGGTCTCAGCGTCTGACTGACCAGGTCTCAGCACCTGGACTCACCAGCTCTCAGCATCTCTGTCCTCCCATGGGTTAGGTTGGCTGAGATGCCAGCAGGCGTAACTGGATGTCAGGCATCCAGACGCACAGAACAGACAATAAATCACAGTCACAAAAGTGAGAGCCAAACATATTAGTGCCATGAGGGCCTGTGCGTGTCCAGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCAGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGA
Task1_train_23137
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.
Pathogenic; Inborn genetic diseases
AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGCTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
Task1_train_23138
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?
Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGCTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
Task1_train_23139
A sequence alteration has been identified in TUBB3 (tubulin beta 3 class III) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Complex cortical dysplasia with other brain malformations 1
AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGCTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCC
Task1_train_23140
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.
Pathogenic; Complex cortical dysplasia with other brain malformations 1
CTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACA
CTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGATGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACA
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?
Pathogenic; Complex cortical dysplasia with other brain malformations 1
CTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCC
CTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACAAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCC
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.
Pathogenic; not provided
GTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGC
GTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCCGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGC
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.
Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
CAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTC
CAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGTGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTC
Task1_train_23144
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.
Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
AAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGA
AAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCACCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGA
Task1_train_23145
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.
Pathogenic; Complex cortical dysplasia with other brain malformations 1
AAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAG
AAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGTCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAG
Task1_train_23146
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?
Pathogenic; not provided
AAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCA
AAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCTGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCA
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?
Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGTGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
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.
Pathogenic; Inborn genetic diseases
CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGTGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
Task1_train_23149
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?
Pathogenic; Complex cortical dysplasia with other brain malformations 1
CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGTGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGT
Task1_train_23150
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.
Pathogenic; not provided
TTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCA
TTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCTCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCA
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?
Pathogenic; TUBB3-related disorder
CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCAAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
Task1_train_23152
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?
Pathogenic; TUBB3-Releated Disorders
CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCAAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
Task1_train_23153
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.
Pathogenic; Complex cortical dysplasia with other brain malformations 1
CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCAAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCT
Task1_train_23154
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?
Pathogenic; TUBB3-related tubulinopathy
CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACAACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
Task1_train_23155
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?
Pathogenic; Complex cortical dysplasia with other brain malformations 1
CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACAACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
Task1_train_23156
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?
Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCGGGGCCGTGGACGCGCCACAGAAACAGGAGGGCCTCGCTTCACTTCTGCCTTCCCGACCGCAGCACATCCAGCTGGTAGATGCCAACTCGCATCCAGCCCCCAGCTGCCAGGGATTCTGGGGTGGCTGTTTGGGCTCCTGGCACTGCCAGTCGGAAGGAAGGTATGCTGGAGCAGGAGGGCTGATCCATTCACCCAGGATCCCCTCAGGAGGCAGAGCCTCGCTCTGCTGTGACCCCAAGTTCTCAAGACTCTGTCCAGAGCCCTCGTCCTGAGCACTCAGCAGCATCGGCTCAGGGAAGCCACGGCGGGTATGAGAAGGGGTGCTCAGTGGGGCCTACTTTACAGAAGACAGAACAGGCATGGGGCTGCCACGGCTGCCCTTGGGATGTTCAGGCAGGGGCTGGAGGTCTGGACTGCAGAGTCCCTGGCCCCTGTCTCTTACCCCTCTTCTCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACCACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTTGCTTGGTGCCAGAGATGTCCTTTTATTCTGGAAAGTTGTGTCCAGTAGGTGGAGGGGCTGACAGGGAGGCCCGGGTGGACAGGCAAGAAGAGCTCATCCTCTCCCAGGCTGGCGGCTGAGAGAGGCCTGCGCTGGGGGCCGGAATGTGTCTCAAGGCACAGCCCGTGGGGAGACCCCGGAAACGGGAAGCCCGGGAGAAGGAACGGGAAGTACCTCATTCCAGACCTCAAGATGCAGCCCTCCCGACTTGGAAATAACCCCACACTCGTTCCCTGGCCTCCCACAGAGCGGCTTGCACCCCAGACTTTTCTCCCACCTGTCTGTAGGCTGAAAGTTGGGGCAGGTGGTCCCTCCTGCGGTGGAAACTGCCATCAGACCTGAAGCCTCGGGTCACAACCAGGGAGGTAGGGAAGGGGGCCCCGAGTGCTCCCTGAAAAAGACGGTGTGTTTAGTGTCTCGGGGCTGGGCCCTGGGAGGGGCTGCTGAGGTCAGGGAGATGCGGCCACAGGACGCAGGCCTGGGCTGCCGGGAGGGACGTATCAGTCCTCCCGCCCCCGGCAGCCCCTTCCTGGGGTGCATGATACTTGGTGTCCAGCCACACAGGGCATGGCCTGAGGAGCCGCTCACCTGGTTCCCCACATCCTCCTACAGGGACAGAGCCTGGAGCCCAGAGAGGCCGACTGCCCAGCCCTCCACAGTCGCCTCCCTGCCACCCCGCCCCTTGGAGCTGAGGGGCATCAGCAGCCTCAGTCTCCCAGGTTCTGCCCAGTGGTACCCTGAGAGCGGCCCCTTCTTCTTGAATCACCCTTCAACCTGGCAATGGGCGCAGAAGAAGACAGGCCGTGTGCACTGCGGGCCCCAGCTTCAGATGCGAGGGCTGCAGGCCCCAGAGGCCGCCATCTCGAGTTCTGGCCCTGACACCCCCAACATGGATGGGGCCGGGGATGTGTCTCCTCCGCCGGCTGCTGCTGTGTAACAAATCACCCCAAATCTACCTGAAACAGCACGGGATCCTTTCTCTAGACACAGCGTGTTAGCTGGATCCTTCTGCTCCTCACAATGTTGGGAGGGGCCAGCTGCAAGCTCTGACATCTCACTCTTGGGGTTGTCCTCCGCACGGCTGCCTGGCCGACCCCTCGCATGGTGGGGCGGAGGCTGGAACCACGTCTTACATGGCACCGGTTCTTTTTTTCTTTGTGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACTACGGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCAGGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCACTGATTCTTAAGTGTGCCAGACCCATGTCAATCACAGGCCTGGCATCACTGTCCCATATTCAGTGGGTTCAAGCAAGACCAGAGCCAGTGCAGATGCAGGCAGGGAGGGAAAAGCCCTGTGGTGCGGACTCTGGGGTGTGGTTCCTGGGAGGCTGCCTGAACACAGCCTGGCTTGCACC
Task1_train_23157
This gene mutation involves VPS53 (VPS53 subunit of GARP complex) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
Pathogenic; Pontocerebellar hypoplasia type 2E
GGTCAGTTCCACGTGCCCTTGCAATTGCTCGAGGACTCTGGGGCCCAAAGATAAAGAACTCACTTTATATAGTACTCAGAGAACAAAGAGCAGAAAAATGTCTCCCATCCCATTTTCAGCATAAGTATTAAAGCAAAACCTAATTTAGGATCTGGCACCCTTGTGGCAAGGCAGACACAGCTGAGGTTGGGCTAAATCTTAGCTTCCAATGCCATAGCTTTTGTTCAAGTTTGGATGGCAGCTGCTCCACTACTGGAGGCAGCGTCTGTTTCAGTCTATGAACACTGCTGAGTTAACTTGATTCTGATGGTTCTGCTGCCTGAGTGAACACGCCTGCAGCTACATGGCTGCTTGAGTTTCAAGGCCCAGACATCAGGGCAAGTACAGGCCCAGCCAAACCTCAACTCATGTGAGAATCGTTCAGGGGCCACGTTGCCCTGTAGTTCCCACCCACACCCTCCCCATTCTGGGCCTGTCAAGATCCACACTCCCCTACTGCCCACCTGAACTGGCCTGGGGTCTGATTAAGTAAAACTCCAGTTCCAGCAGATGGTTTTCTCATCCACACCTCAAAACGGAAGTAAACATAGGATGTTGGCTGTGGGTTTGTTAAAAAATAATAACAATAATGGATGTAAGCACTGGATGAACTGATATTTTTCTGAAGATATTGGCTTTGGGTCTGAGCTTACTATAATCATTAAAAGACTCTTTTTTTTTTTGTGGGGCAGATGGTGTCTTACTCTGTTGCCCAGGCTTCAGTGCAGCGGCACGATCATAGCTCACTTCAGCCTGGATTCAAAGAATCCTCCGACTTCAGCCTCCTCCTGAGCAGCTGGGACTACAGGTGTGGACCGTTTTTTAGCTAATGTTTTATTTTTTTTGAGAGATAGGGTTGCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCTAGTGATCCTCCCATCTCAGCCTCCCATCACTGGGATTTATTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAGCAGTGGCGTGATCTGAGCTCACTGCAACCTCCACCTCCACCTGCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTGTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTGAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCATCACGCCCGGCTAATTTTTTGTATTATTAGTAGAGACAGGGTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTGGGCCTCCCAAAGTGCTAGGATTACAGACGTGAGCCACCATGCCCGGCCAATATTCCAAGTTTTTTGCTAGTTTTTTTGTTTGTTTGTTTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGATATCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCCTGCCCCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGCTCTCAAATTCCTTACCCCAGGTGATCTGCCTGCCCAGGCCTCCCGAAATGCTGGGGTTACAGCGTGAGCCGCTGTGCCCGGCCCAGCCACTTCTTCTTATTGGAGTGTGAGCACTAGGAGCAGGGACCTTTCCATGGTGCTTGCTGTGTTATACCCTGCACCCAGAACTTAGTAGGCGTTCAAACAAAATTTTTAAAAATAAATGGAAGAACGAATTAAGAAACCTTCCGGGTGAGTCATTATACTGTCCCCAAACAGGGGACATCATCAATTTTATTCCTGCCAAGTAGATCTGGACTAGAAGAATATGTGCTTGATCTACAACAAAAGCTGCCAGGCAAATGCCTGATACTACGTCCATCTCACCTGTTCTGCTCCCACCATGCTAATTGGCTTGCACTTGAAGAGGTGGGTGATGAATTTGGGAATGAAGGAGCTGTGGATAAAAAAGAAGTGACAAATTAGGCTTATTCTCTCTTGAGGAAAGAAATGCAAAAACTTTAAGGTTCCACGTATCTCCATGAAAAAACCTTTTTTAATGAAGAATCGAAGTGGACTCCACTGTTGCCCATTATCTTATTTTTCTTCTGAGTGAAGTCCTGGTTTTGTTTAGTTACATGAGGCCCTGGCAGGCCCGGGAAAACCGGATCCCATCCTAGACTCCCAGTGAACTCTAACTATTCTCAGCTCGTCAGAGCACAGCATTCCTTTGGTGACTGTTGTTTGTCCTGAGAGGGAATATGATCGAAGCTAGCCCAATCAGACTGGATGTAAGGGCTACAGGCACCGCACCTGGCTACTTTTTAATTTTTTTGTAGAGGCAGGATTTCGTTATGCTGCCCAGGCTGGGCTCAAACTCCTGGCTTCAAGCAGTCCTCCTCCCTTGGGCTCCGGAAGTGCTGGGATTACAAGCGTGAGCCACTGGGCCAGGCTTCCTTGATTCTTCATTCTCTGTCTCCAGCCTCATCCTGCTAAGCCCTGGCCTCCCTATGCTTCAACCCAACTGAGCCACTTGCAGATCCCAGGATTCTGGGGGCTATTTAATGCCTACACTGCTCCCTCGCCTGGACTGCCTTTCCTAGAAGGGGCTTGTGGGTCAGTACACACGCACCTCTCAGATCCTGTTCAACGGCGTCTCTAGAAAGCCTTTCTTCTGCTGCCTTCGCCATACTCTACATGGAGTCTGCAGGCCTCCACCCTCACATCTAACCTAGTTCATTATGCTCATTTGCTTACATGTCTATTTTGCTTCACCTGACTATTAAGGCAAACGAAGATGGGGGCCATGTTTATCAGGCCAAAACATTTAACTCTGGGTCTGAGACATAGGAGATGCTCAAGTGAATGCACATTGAGTAAATCATAAACTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTGGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCACCAGCATACCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCTCTTGCCTCGGCCCCACAAAGCGCTGGGATGACAGGCGTGAGCCACCGCGCCCAGCCACCTACCACTTTTTGAATGTCAGCTTGGTATCAGCACTTTACCAGGAAGTTAATATGTGACTTCTCATTTTATCTTCCCAACCACTATTATGAGATTTGTCTCATTATCTCCTTGATTGAAGGGAGGAGGATCAGCTCAGTGGATGAGGGAAGTTGCTTGTGGTTCAACTGCAGTTTCAACCAGGCTGTGGATTTTGATGTCTCAACAGGAAAGGCTGCTATTGCTTAAGACAGCAAACGAGGTAAAAGGAAACATCTATGGTTTTGCAGGGGTGGGGTAGAAAGGAAGCTGAGGGAGAGGAAACTGGAGTCCGGAGATCGGATCTGGAGGTGGCTTGTGATCAGGAAGGAGAGTAAACAAGGGGCTATTTGGAAGGAATTCCTCAGTGCTGGAAACCAGAGCCAGACAAGCAACATGAAACTGAACTCATGACCAATGGCAGCTGTGCACACAGCGCTTTGTAACCTAAGTTGCTTCACATTAGAACATGCTCCGGACTGGGCATGGCAGCTCATGCCTATAATCCCAGCACTCTGAGAGGCCCAGGCAGGTGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTCATCTCTACAAAAAATAGAAAAATGAGCTAGGCCGGGTGGCGAGCGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGATGGGGGCTGCAGTGAGCTGTGGTTGCACCACTGCACTCCAGC
GGTCAGTTCCACGTGCCCTTGCAATTGCTCGAGGACTCTGGGGCCCAAAGATAAAGAACTCACTTTATATAGTACTCAGAGAACAAAGAGCAGAAAAATGTCTCCCATCCCATTTTCAGCATAAGTATTAAAGCAAAACCTAATTTAGGATCTGGCACCCTTGTGGCAAGGCAGACACAGCTGAGGTTGGGCTAAATCTTAGCTTCCAATGCCATAGCTTTTGTTCAAGTTTGGATGGCAGCTGCTCCACTACTGGAGGCAGCGTCTGTTTCAGTCTATGAACACTGCTGAGTTAACTTGATTCTGATGGTTCTGCTGCCTGAGTGAACACGCCTGCAGCTACATGGCTGCTTGAGTTTCAAGGCCCAGACATCAGGGCAAGTACAGGCCCAGCCAAACCTCAACTCATGTGAGAATCGTTCAGGGGCCACGTTGCCCTGTAGTTCCCACCCACACCCTCCCCATTCTGGGCCTGTCAAGATCCACACTCCCCTACTGCCCACCTGAACTGGCCTGGGGTCTGATTAAGTAAAACTCCAGTTCCAGCAGATGGTTTTCTCATCCACACCTCAAAACGGAAGTAAACATAGGATGTTGGCTGTGGGTTTGTTAAAAAATAATAACAATAATGGATGTAAGCACTGGATGAACTGATATTTTTCTGAAGATATTGGCTTTGGGTCTGAGCTTACTATAATCATTAAAAGACTCTTTTTTTTTTTGTGGGGCAGATGGTGTCTTACTCTGTTGCCCAGGCTTCAGTGCAGCGGCACGATCATAGCTCACTTCAGCCTGGATTCAAAGAATCCTCCGACTTCAGCCTCCTCCTGAGCAGCTGGGACTACAGGTGTGGACCGTTTTTTAGCTAATGTTTTATTTTTTTTGAGAGATAGGGTTGCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCTAGTGATCCTCCCATCTCAGCCTCCCATCACTGGGATTTATTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAGCAGTGGCGTGATCTGAGCTCACTGCAACCTCCACCTCCACCTGCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTGTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTGAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCATCACGCCCGGCTAATTTTTTGTATTATTAGTAGAGACAGGGTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTGGGCCTCCCAAAGTGCTAGGATTACAGACGTGAGCCACCATGCCCGGCCAATATTCCAAGTTTTTTGCTAGTTTTTTTGTTTGTTTGTTTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGATATCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCCTGCCCCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGCTCTCAAATTCCTTACCCCAGGTGATCTGCCTGCCCAGGCCTCCCGAAATGCTGGGGTTACAGCGTGAGCCGCTGTGCCCGGCCCAGCCACTTCTTCTTATTGGAGTGTGAGCACTAGGAGCAGGGACCTTTCCATGGTGCTTGCTGTGTTATACCCTGCACCCAGAACTTAGTAGGCGTTCAAACAAAATTTTTAAAAATAAATGGAAGAACGAATTAAGAAACCTTCCGGGTGAGTCATTATACTGTCCCCAAACAGGGGACATCATCAATTTTATTCCTGCCAAGTAGATCTGGACTAGAAGAATATGTGCTTGATCTACAACAAAAGCTGCCAGGCAAATGCCTGATACTACGTCCATCTCACCCGTTCTGCTCCCACCATGCTAATTGGCTTGCACTTGAAGAGGTGGGTGATGAATTTGGGAATGAAGGAGCTGTGGATAAAAAAGAAGTGACAAATTAGGCTTATTCTCTCTTGAGGAAAGAAATGCAAAAACTTTAAGGTTCCACGTATCTCCATGAAAAAACCTTTTTTAATGAAGAATCGAAGTGGACTCCACTGTTGCCCATTATCTTATTTTTCTTCTGAGTGAAGTCCTGGTTTTGTTTAGTTACATGAGGCCCTGGCAGGCCCGGGAAAACCGGATCCCATCCTAGACTCCCAGTGAACTCTAACTATTCTCAGCTCGTCAGAGCACAGCATTCCTTTGGTGACTGTTGTTTGTCCTGAGAGGGAATATGATCGAAGCTAGCCCAATCAGACTGGATGTAAGGGCTACAGGCACCGCACCTGGCTACTTTTTAATTTTTTTGTAGAGGCAGGATTTCGTTATGCTGCCCAGGCTGGGCTCAAACTCCTGGCTTCAAGCAGTCCTCCTCCCTTGGGCTCCGGAAGTGCTGGGATTACAAGCGTGAGCCACTGGGCCAGGCTTCCTTGATTCTTCATTCTCTGTCTCCAGCCTCATCCTGCTAAGCCCTGGCCTCCCTATGCTTCAACCCAACTGAGCCACTTGCAGATCCCAGGATTCTGGGGGCTATTTAATGCCTACACTGCTCCCTCGCCTGGACTGCCTTTCCTAGAAGGGGCTTGTGGGTCAGTACACACGCACCTCTCAGATCCTGTTCAACGGCGTCTCTAGAAAGCCTTTCTTCTGCTGCCTTCGCCATACTCTACATGGAGTCTGCAGGCCTCCACCCTCACATCTAACCTAGTTCATTATGCTCATTTGCTTACATGTCTATTTTGCTTCACCTGACTATTAAGGCAAACGAAGATGGGGGCCATGTTTATCAGGCCAAAACATTTAACTCTGGGTCTGAGACATAGGAGATGCTCAAGTGAATGCACATTGAGTAAATCATAAACTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTGGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCACCAGCATACCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCTCTTGCCTCGGCCCCACAAAGCGCTGGGATGACAGGCGTGAGCCACCGCGCCCAGCCACCTACCACTTTTTGAATGTCAGCTTGGTATCAGCACTTTACCAGGAAGTTAATATGTGACTTCTCATTTTATCTTCCCAACCACTATTATGAGATTTGTCTCATTATCTCCTTGATTGAAGGGAGGAGGATCAGCTCAGTGGATGAGGGAAGTTGCTTGTGGTTCAACTGCAGTTTCAACCAGGCTGTGGATTTTGATGTCTCAACAGGAAAGGCTGCTATTGCTTAAGACAGCAAACGAGGTAAAAGGAAACATCTATGGTTTTGCAGGGGTGGGGTAGAAAGGAAGCTGAGGGAGAGGAAACTGGAGTCCGGAGATCGGATCTGGAGGTGGCTTGTGATCAGGAAGGAGAGTAAACAAGGGGCTATTTGGAAGGAATTCCTCAGTGCTGGAAACCAGAGCCAGACAAGCAACATGAAACTGAACTCATGACCAATGGCAGCTGTGCACACAGCGCTTTGTAACCTAAGTTGCTTCACATTAGAACATGCTCCGGACTGGGCATGGCAGCTCATGCCTATAATCCCAGCACTCTGAGAGGCCCAGGCAGGTGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTCATCTCTACAAAAAATAGAAAAATGAGCTAGGCCGGGTGGCGAGCGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGATGGGGGCTGCAGTGAGCTGTGGTTGCACCACTGCACTCCAGC
Task1_train_23158
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.
Pathogenic; Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
CTGGCACTTCACACTTGAAGTGCCCCTCGAAGAAGCTCTTCAGCCTCAGGCCCACAGTCCAGTCTAGCTGTTCTAACTTGCGGTGGAGCCAGGACAGGGACTTGATCCAGACATCCGGGGAGAAGGTCTCAGCATTGGCTGATACAATCTCACACAGGAGCTCCAGGATATGGATCGCTAGATCCTTCCTATCCAAAGAGAGGCACCGCTTCTCCTTGGGAAGCTGCCAGTATTTGCTGAAGCGGTCCAAGAGCTGGCACAAGCTGAAGAGGAGTGGAAACGGGGAGCAGGTCTGGAGCCAGTATTCCTCTCGGCACGCGTTTGCCTCTAGAGTCTGGATGAAGATCCTCAGACTGAGGTCTACCTCTTCAACATCTAACCTCAAGAAAGGCAGGACAAATTCCTTCAGCACCTCGTCTGGCTCAAGAAGAGCAGCCACTGGAATCCCTTGGGGTTTCACGGGACTCATCAGGCAGTTCAGGAGCTCTAAAAATTGCTTTTCTTCCTTGGGTGTAGAGAACTTCATCCAGACGGTTTCTTTGAGGCATGACACCATGAAAGTGGCAGATGAATTGGGACCCTGCTCTTCCACAAACCTAAGGGCAGGGAAGGCAGTGAGAATCTGGGCCAGGAACTTGTGGGTGCCGAGATTGACCACAGCCAGGCTGCACATTTTCTTCACCGTGACTTCCGGGTGCACTATGACCAGGCGGGCCACGGAGGCCACAGCTTTTGCCAAGCCCTGTTCGGAGGCACTCTGAGTGAGCTGGTTAAAAGTTGTATTGAGGTCTTCCTGAAAACCCTCCACATAAGCCAGCAACTTTTCAGAGAGGCCCTTTCGCCCCCAGGAACGCAGGATACCTGCAAGGACTTTATTTTTACCTGGCAGGGAGAGGTCTGCGTAACATTCCAGGATCAGGTGGATCACCTGCCGGATCTGAGACTCAGGGATGGCTCTGTCAGCTGTGCTGACGTCTATCACTGTTTCCAGCAGCCTCAACACCAAGTCTGGCTGTCGGAAGAGGGCCCTGTTACTCCCCAGGCAGGCTACCCACTCGTCCGAGAAGGCCCACTTCTTCTCAGAGGCAAAAATGTAGCACACTTCCATATGGCGGTCCATCTTCTGCTGGATGACGGCCATGGCAATGGAAGCTGTGATATCCTCCAAGGCCCTGTTCTTCAGCACCGTGCTCGTTTTCCTCAGGAAGTCCCTGACACACTCCGCCAGCTCAGAGACCACCTGCCTGTCCTCCTTGGACAGGCTGGTGCGGTTCAGGTAGAGCGTCGCGTTCTGGCTGAAGGAAGTCAGACTGTCGCACAGCCGGTAGCTGTCGTAACTTGTCCCCTGGCTGCTGCGGAGCACGGCCTGCAACTCCTCCCCCCACTCCCGCAGCAGGTGGTGCAGGAACTCGCAGCCCACGAAAATGGTCTCACTGGGGAGTTTGGCCAGCGAGGTCAGGCTGACATCCCGTTCTGCCTCCTTCACCTTCTCTGCCAGCGCCTGCTGGTGGTAGGGATTCTGGGTGTCCGAGTTCCACACAGAGATCACCGTGGCCAGTTTGTCCAGATACACGGTTGCAGACACCTCCTGGGGGTCGTCCTCTGTCAGCGCAAACACAGTCAGCATGTCAGCCAGGTTGGCCAGCGCACAGCACTTCCTCCCCGGGCCCAGGATCCGACTCTGGATCTGTGTCAGCCCGCGGAGCAGCATGGCCAACAGGGGCATGGTGGGGCACGCGTCTGGGTCTGACCTAAGCCTCTTTGGAGGATGGGGGAACTCATCTAAGGCAGGCAGGTACTTATGGGCCATTGCACTAAACTGGGAGAGCAGGGGGTCCTGCGGGTGACCCTTGTGCTTCATCACCTCCCACCAGACGTCCAGGAAGAAGGCCACGTCTTCGGCAGAAGTGTCAACGGTCACATGTTCCAGAAAGCGCTCTAGTTCTGCATGGCAGATGGTGGTGGGCAGGGCCATCAGGAGCTGGATAAAGAGTCCAGAAGCTTCCAGGGATTTGAGCAGCTCGAAGAGGATGGTGTGGTTGATGGTGGGGATCATGTTGCCCACCGAGAAGAACAGGTCTTCCTGCCACCGTGTCTCTGTGTCGGACGGGGTCACGGGGTGCGGCTGCAGAACCTTGGCCCAGATGATGATCAGGGCTTTCTTCTTCCAGGCAAAGGGCTGGGAGTGTGCTGCAGCCGAGGAGATCTCCCTTAAGGCCTCCACGATGGGCCGTCCAACACGTTCCCAGTCAGACTTTGTTAATTCTGCCAGTGCCTTAGGGTGGAACAGCTGCTCGGCCAGCAAGAAGCCTCCATGCAGAATAGTCATTTCTTCACAGATGTTCAAGGGTCCTGCACACAGACAAGCCAAATAAGACAGTATAGTGAAAATGTTTCCAGATGGCCACTGCTGTTAGTAGGCTGTCATGGTTTGAGATGACAAGGGTTTTAAAGGACATCAGCGGACGGGGAGAAGGGATGACTACAAGAGCCACTGCACAGCTGGAGTCAGAAGGACTTGGCCGAGGAATCCAGAATGGCTTCCGAGCTCTCCAGCCTGGGAACTGGGAGGCCACCAGGTGACATCACATACAGGGAATGGAGGAGAATCAGAGCAGGTGTGAGGAAAGATGAGTTCAGCTTTGGCCATCAAGGTACAGATGTCCTCCAGCAACGGAAATGCCAGGTGGAAGTTCAGGAGGGAAGTAAGCTGGGAAATGTGATTCTGAGAGGTATCTGCCCAGAGGGGATCACCGGAACCAAGACGGTGAATGAGATCCTTCAGGAAAAGTGTGTGAAAAGAAAAAGCTGGGCTGCTGAGGCGAGACCCTCCAGCAAAGGCTGGGCCAGCAGAGGATGTGGGGAGAGGGGTTTAGAAATAGGAGGACAGTACAAACTACAGGGGCCACTGAGCATGTACCACAGGACATGACAGCTGAGCTTCTCATGACAGATGAAGGGAGCATAGCCACAGGGTAATGGGCACAGAGCAATCACACAGCCACAGGGTAACAGGCACAGCAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGCAGCAATCACACAGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAGGGTAATGGGCACAGAAGCAATCACACGGCTACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAGTCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAGGGTAATGGGCACAGAAGCAATCACACGGCTACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAAGGTAATGGGCACAGCAGCAATCACACGGCTACAGGGTAATGGGCACAGAGCGATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGCAGCAATCACGCAGCCACAGGGTAACGGGCACAGCAGCAGTCACACAGCCACAGGGTAATGGGCACAGAGCAATCACATAGCCACAGAGCAATGGGCACAGAAGGA
CTGGCACTTCACACTTGAAGTGCCCCTCGAAGAAGCTCTTCAGCCTCAGGCCCACAGTCCAGTCTAGCTGTTCTAACTTGCGGTGGAGCCAGGACAGGGACTTGATCCAGACATCCGGGGAGAAGGTCTCAGCATTGGCTGATACAATCTCACACAGGAGCTCCAGGATATGGATCGCTAGATCCTTCCTATCCAAAGAGAGGCACCGCTTCTCCTTGGGAAGCTGCCAGTATTTGCTGAAGCGGTCCAAGAGCTGGCACAAGCTGAAGAGGAGTGGAAACGGGGAGCAGGTCTGGAGCCAGTATTCCTCTCGGCACGCGTTTGCCTCTAGAGTCTGGATGAAGATCCTCAGACTGAGGTCTACCTCTTCAACATCTAACCTCAAGAAAGGCAGGACAAATTCCTTCAGCACCTCGTCTGGCTCAAGAAGAGCAGCCACTGGAATCCCTTGGGGTTTCACGGGACTCATCAGGCAGTTCAGGAGCTCTAAAAATTGCTTTTCTTCCTTGGGTGTAGAGAACTTCATCCAGACGGTTTCTTTGAGGCATGACACCATGAAAGTGGCAGATGAATTGGGACCCTGCTCTTCCACAAACCTAAGGGCAGGGAAGGCAGTGAGAATCTGGGCCAGGAACTTGTGGGTGCCGAGATTGACCACAGCCAGGCTGCACATTTTCTTCACCGTGACTTCCGGGTGCACTATGACCAGGCGGGCCACGGAGGCCACAGCTTTTGCCAAGCCCTGTTCGGAGGCACTCTGAGTGAGCTGGTTAAAAGTTGTATTGAGGTCTTCCTGAAAACCCTCCACATAAGCCAGCAACTTTTCAGAGAGGCCCTTTCGCCCCCAGGAACGCAGGATACCTGCAAGGACTTTATTTTTACCTGGCAGGGAGAGGTCTGCGTAACATTCCAGGATCAGGTGGATCACCTGCCGGATCTGAGACTCAGGGATGGCTCTGTCAGCTGTGCTGACGTCTATCACTGTTTCCAGCAGCCTCAACACCAAGTCTGGCTGTCGGAAGAGGGCCCTGTTACTCCCCAGGCAGGCTACCCACTCGTCCGAGAAGGCCCACTTCTTCTCAGAGGCAAAAATGTAGCACACTTCCATATGGCGGTCCATCTTCTGCTGGATGACGGCCATGGCAATGGAAGCTGTGATATCCTCCAAGGCCCTGTTCTTCAGCACCGTGCTCGTTTTCCTCAGGAAGTCCCTGACACACTCCGCCAGCTCAGAGACCACCTGCCTGTCCTCCTTGGACAGGCTGGTGCGGTTCAGGTAGAGCGTCGCGTTCTGGCTGAAGGAAGTCAGACTGTCGCACAGCCGGTAGCTGTCGTAACTTGTCCCCTGGCTGCTGCGGAGCACGGCCTGCAACTCCTCCCCCCACTCCCGCAGCAGGTGGTGCAGGAACTCGCAGCCCACGAAAATGGTCTCACTGGGGAGTTTGGCCAGCGAGGTCAGGCTGACATCCCGTTCTGCCTCCTTCACCTTCTCTGCCAGCGCCTGCTGGTGGTAGGGATTCTGGGTGTCCGAGTTCCACACAGAGATCACCGTGGCCAGTTTGTCCAGATACACGGTTGCAGACACCTCCTGGGGGTCGTCCTCTGTCAGCGCAAACACAGTCAGCATGTCAGCCAGGTTGGCCAGCGCACAGCACTTCCTCCCCGGGCCCAGGATCCGACTCTGGATCTGTGTCAGCCCGCGGAGCAGCATGGCCAACAGGGGCATGGTGGGGCACGCGTCTGGGTCTGACCTAAGCCTCTTTGGAGGATGGGGGAACTCATCTAAGGCAGGCAGGTACTTATGGGCCATTGCACTAAACTGGGAGAGCAGGGGGTCCTGCGGGTGACCCTTGTGCTTCATCACCTCCCACCAGACGTCCAGGAAGAAGGCCACGTCTTCGGCAGAAGTGTCAACGGTCACATGTTCCAGAAAGCGCTCTAGTTCTGCATGGCAGATGGTGGTGGGCAGGGCCATCAGGAGCTGGATAAAGAGTCCAGAAGCTTCCAGGGATTTGAGCAGCTCGAAGAGGATGGTGTGGTTGATGGTGAGGATCATGTTGCCCACCGAGAAGAACAGGTCTTCCTGCCACCGTGTCTCTGTGTCGGACGGGGTCACGGGGTGCGGCTGCAGAACCTTGGCCCAGATGATGATCAGGGCTTTCTTCTTCCAGGCAAAGGGCTGGGAGTGTGCTGCAGCCGAGGAGATCTCCCTTAAGGCCTCCACGATGGGCCGTCCAACACGTTCCCAGTCAGACTTTGTTAATTCTGCCAGTGCCTTAGGGTGGAACAGCTGCTCGGCCAGCAAGAAGCCTCCATGCAGAATAGTCATTTCTTCACAGATGTTCAAGGGTCCTGCACACAGACAAGCCAAATAAGACAGTATAGTGAAAATGTTTCCAGATGGCCACTGCTGTTAGTAGGCTGTCATGGTTTGAGATGACAAGGGTTTTAAAGGACATCAGCGGACGGGGAGAAGGGATGACTACAAGAGCCACTGCACAGCTGGAGTCAGAAGGACTTGGCCGAGGAATCCAGAATGGCTTCCGAGCTCTCCAGCCTGGGAACTGGGAGGCCACCAGGTGACATCACATACAGGGAATGGAGGAGAATCAGAGCAGGTGTGAGGAAAGATGAGTTCAGCTTTGGCCATCAAGGTACAGATGTCCTCCAGCAACGGAAATGCCAGGTGGAAGTTCAGGAGGGAAGTAAGCTGGGAAATGTGATTCTGAGAGGTATCTGCCCAGAGGGGATCACCGGAACCAAGACGGTGAATGAGATCCTTCAGGAAAAGTGTGTGAAAAGAAAAAGCTGGGCTGCTGAGGCGAGACCCTCCAGCAAAGGCTGGGCCAGCAGAGGATGTGGGGAGAGGGGTTTAGAAATAGGAGGACAGTACAAACTACAGGGGCCACTGAGCATGTACCACAGGACATGACAGCTGAGCTTCTCATGACAGATGAAGGGAGCATAGCCACAGGGTAATGGGCACAGAGCAATCACACAGCCACAGGGTAACAGGCACAGCAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGCAGCAATCACACAGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAGGGTAATGGGCACAGAAGCAATCACACGGCTACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAGTCACACGGCCACAGGGTAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGCAGCAATCACACGGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAGGGTAATGGGCACAGAAGCAATCACACGGCTACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGATAATGGGCACAGCAGCAATCACACAGCCACAAGGTAATGGGCACAGCAGCAATCACACGGCTACAGGGTAATGGGCACAGAGCGATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAGCAGCAATCACGCAGCCACAGGGTAACGGGCACAGCAGCAGTCACACAGCCACAGGGTAATGGGCACAGAGCAATCACATAGCCACAGAGCAATGGGCACAGAAGGA
Task1_train_23159
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.
Pathogenic; Mesoaxial synostotic syndactyly with phalangeal reduction
TCGCTCTGTCCGCCAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAACCTGGGAAATACAGATGTCCTTAGGATGCTTTCATCCTAGTGGGCAAGGCAGACAATCACAGAAGTAAATACATACACTCTGCTTCCTAATGCCTTATTATTTTCTTTTATGGAGAAATTCACAGTTTGAAATAATGGGGTTATTGGCAATGCTCTTTTGGCGAGATGGATGTGAACCACACACCCATTCCAATGCCATAGGCCTTGGCATCTTAGAGGCATTTGGATTGTGACTGGGAATGAGTGGCCTTCAGGCGCTCCAAATAACTCAGCTGTGGATGCCGGAAATTCTACTGGGGGTCTTTCTTTGGGAATAAACATCATCTTTTTTCTGAGACCCTCTTTCAAATGCAAATCCCTGGGGGAAGAGGACAGAGGCTGCTCATTGAGTTCATAACCTGGCAGGGCTGTGTCACAAGATGGGGCTGCCCGAGGGCTCTGGACCCCAAAGATGCCCCTGATGTGGACCCAGGGCTGCAAAGGGATCTTCCCCGTCACCCTCTGCTGCTGACTCATCCCAGCTCTGCCTGCAGAAGGGGAGTCAAAGGGCAGTGGAGGGAGAGTCAGGCCCAACCAAAACCCGAACCCCAATTGCAGCCAGCCGCCCTCCATAGCTGAAAAAGCCGGAAGCTCTGGGTCAGCTTTACCTGCAGGGCCCTGCGCCTCCCATATGAGTCCTGCCGGGACACTCATGCTTTTCCTCAGTGACATCTCTGTGGTTGCCCACGGGACTTGACAAGAACTTTCAAGGTTTTGTTGTTGTTTTTGTTGTTGTTTTTCTGAGACGGAGTCTCGTTCTGTCTCCCAGGCTAGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCAGCTCCTGGGCTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGACGGGGTTTTATATACTCTGTTGGCCAGGCTGGTCTCGAACTCCTGAACTCAAGTGATCCGCCCGCCTCGGCCTCCCAAACTGCTGGGATGACAGGCGTGAGCCCCAGTGCCCGGCCCTCTGCCTCTTTTTATTCCTATCAGCTCTCCTGCTAGAAGCCAAACTTAGCACCTTATCTGGGAATGGGGAGGAAGAATGTGGAACCCAGACACCCCACAGCGGCCCCAGAGCTAGGCAGGGCAAGGTCCCCGGGGCAGCGTGGCCGGGCTGCCCGTCTGGTCCCCGCTTACAAGAACCTGCAAGCTTCCCTCCTTGCTTTCCTTCTTCCCCTCGGTTCCTCCCCCGCCGACCTACCTGGAGGCCGATAATAAAGCAGGAGGAGGGAGATGGATGGACGGGAGGGCGGGGCGCCGCGTGGTGCCATAAAGCCCAGCTGGAAGGGGCCTGTCTCGGGAGTGTCCAGCCCCAGGAGCCGGGGACCGTCCGCGTCGCGAGCCGGGCCAAGGCAGTGGGCAGAGGGCAGAGGGCAGAGGGCCGGGGCTGGGGCAGAGGGCGAGTGCCCGGGAAGGCCATGCTGCGGGGCGCGCCAGGACTAGGCCTCACGGCGCGGAAGGGGGCCGAGGACTCTGCGGAGGACTTGGGGGGCCCCTGCCCCGAGCCCGGGGGCGATTCGGGGGTGCTGGGGGCGAACGGCGCTTCCTGCAGCCGGGGCGAGGCGGAGGAGCCGGCGGGCAGGAGGCGCGCGCGGCCGGTGCGGTCCAAGGCGCGGCGCATGGCCGCCAACGTGCGGGAGCGCAAGCGCATCCTAGACTACAACGAGGCCTTCAACGCGCTGCGCCGGGCGCTGCGGCACGACCTGGGCGGCAAGAGGCTCTCCAAGATCGCCACGCTGCGCAGGGCCATCCACCGCATCGCCGCGCTCTCCCTGGTCCTGCGCGCCAGCCCCGCGCCCCGCGGGCCCTGCGGACACCTGGAGTGCCACGGCCCGGCCGCGCGCGGGGACACCGGGGACACAGGCGCCAGCCCCCCGCCGCCTGCAGGGCCCAGCCTCGCGCGCCCAGACGCCGCCCGCCCCTCGGTGCCGTCCGCGCCCCGCTGCGCCTCGTGCCCCCCGCACGCGCCCCTGGCACGGCCCAGTGCGGTGGCCGAGGGGCCGGGCCTAGCACAGGCCTCCGGGGGAAGCTGGCGCCGCTGTCCGGGGGCTTCCTCTGCCGGGCCGCCTCCCTGGCCGCGGGGCTACCTGCGATCCGCCCCCGGGATGGGCCATCCGCGCTCCTGACCGGCCTCGAGGCACCGGCTGGGCTGCAGGGAGGCCGGGCTGGCAGCTGGACTATAAAACCCGGGACTGCAAAGGCGTCTTGGACAGAGCAGAACTGGACCGGCTGAGACCTGGCGTGGAAGAGAAGGAGCTCGCCAGAGAGAAGGAGCTCCGGGACCCGGGGTTGCGCCCCCACATCCCAGCCTGGGGCAGAGAGAAGGAGCTCCGGGGCCTGGGGCTGCGCCCCCACATCCCAGCCTAGGGAGGCAGTTGCCAGAAAGGCTCAGGATCCTGAACTCATCTTGGACTCGAACTCGTCTTGGAATGCCGCCTTCGCACTCCTGCGCCTCCGAGCCCTGTGTGTTCTCGATGCTTTTAGGAGAGTGAGGGCTTTGAGGCAGGAGGTGTGGGAGCGTGGGAATGCGGGTGGGGCCTGCTGTGGTCTCGTGGGCACATGAGTGCGGAGTCCCCTTCCCTGCCTGCGCTGCTGCCCAAGCCTGATCCGGGAGAGGCAGGATCCGGGAGAGGCAGGCAGGGGCAGCAGCCAAATAAAAGGAAAAACTCATTTCTCTCCGATACCACGACTCCAGTGGGCCCCGTGGCCCAGGGTGGCAGGAACGCCTGAGGGCTGGGGGCTCTCCTTGGAATGCTGGGCGGGGCCTAAGGCCCACAGGTAGGCGCCTGGGGGAACTCATTCATGGCAAGACCCCAGGTGTGGCTGAGCACTGTGGGAGCCCAAGGGGAGGAAAGAGACATCCAGAGACCCCTCCTCCCTGAGTCCCCTGGGGTGGAAGAGGATATCAGGAGAGGGGTCACGGGGCCTGGGAGTCTAAGGATGGGGTCAGCCCCGTCTCTGGACCTCCCTGCAGAGCTGCCTGGAAGCAGCCACAGTGAAGGGGGACTCTGGCCAGGTCTCAGGGAAGGAGGCCAAGGGCAGGGCTAGGATTGGGGGCCGGTAAGTCCTGCGTGCATGTACCCCGAGCGACAGGCAGGAAGAGCTCCCAGGGAACCGTGGGCCAGGGCCCCCATAATGAGGGGCCGACTTGGAACCCAGGAAGGATTCTGGGGAGGGGGTTGAGTGAGGGCAGAGGGGCCTCAGGCCAAGCCTGCTGAGCTAGTGAGAGACACAGCCAGCTGCCCCGAGAGTTTTGTCCAGAGAGCTGCCCTGCATCTGAGATGAGCTGGTGTCTGGCCCGGCTCAGGGTAAGGGTCTAATATTGCAAGGGCTGCCTGCTGGGCCAGAGCCCAGAGGTGCTGGGGGAGCGCTGGGCTCTTGCCAACAGGAGAGGGAAGGGTTCCCCACAGCTAGCTCAGAGTGCGGATCCCACAGAAGCTAGAGAAACGCCATTAGGCGTAAACCCAGGGAGAGTTTCCCAGAGCACGTGGGGTGAGGCTCACCTCTACAGTTAAAAGTGCCTCTGCTGTCTGCAAACCCCAGCCCTGGCTGGCACGCTGAGCATCCTGTCCCCAGCCACAGCCCTTAGGGTTCCCAATTGCGCAGGGAGGCTGTGACACAGACCACGGGAAGGCTTTGACTCTATTGAGAGCGGACGTGGGTCTAGCCAGGAGCA
TCGCTCTGTCCGCCAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAACCTGGGAAATACAGATGTCCTTAGGATGCTTTCATCCTAGTGGGCAAGGCAGACAATCACAGAAGTAAATACATACACTCTGCTTCCTAATGCCTTATTATTTTCTTTTATGGAGAAATTCACAGTTTGAAATAATGGGGTTATTGGCAATGCTCTTTTGGCGAGATGGATGTGAACCACACACCCATTCCAATGCCATAGGCCTTGGCATCTTAGAGGCATTTGGATTGTGACTGGGAATGAGTGGCCTTCAGGCGCTCCAAATAACTCAGCTGTGGATGCCGGAAATTCTACTGGGGGTCTTTCTTTGGGAATAAACATCATCTTTTTTCTGAGACCCTCTTTCAAATGCAAATCCCTGGGGGAAGAGGACAGAGGCTGCTCATTGAGTTCATAACCTGGCAGGGCTGTGTCACAAGATGGGGCTGCCCGAGGGCTCTGGACCCCAAAGATGCCCCTGATGTGGACCCAGGGCTGCAAAGGGATCTTCCCCGTCACCCTCTGCTGCTGACTCATCCCAGCTCTGCCTGCAGAAGGGGAGTCAAAGGGCAGTGGAGGGAGAGTCAGGCCCAACCAAAACCCGAACCCCAATTGCAGCCAGCCGCCCTCCATAGCTGAAAAAGCCGGAAGCTCTGGGTCAGCTTTACCTGCAGGGCCCTGCGCCTCCCATATGAGTCCTGCCGGGACACTCATGCTTTTCCTCAGTGACATCTCTGTGGTTGCCCACGGGACTTGACAAGAACTTTCAAGGTTTTGTTGTTGTTTTTGTTGTTGTTTTTCTGAGACGGAGTCTCGTTCTGTCTCCCAGGCTAGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCAGCTCCTGGGCTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGACGGGGTTTTATATACTCTGTTGGCCAGGCTGGTCTCGAACTCCTGAACTCAAGTGATCCGCCCGCCTCGGCCTCCCAAACTGCTGGGATGACAGGCGTGAGCCCCAGTGCCCGGCCCTCTGCCTCTTTTTATTCCTATCAGCTCTCCTGCTAGAAGCCAAACTTAGCACCTTATCTGGGAATGGGGAGGAAGAATGTGGAACCCAGACACCCCACAGCGGCCCCAGAGCTAGGCAGGGCAAGGTCCCCGGGGCAGCGTGGCCGGGCTGCCCGTCTGGTCCCCGCTTACAAGAACCTGCAAGCTTCCCTCCTTGCTTTCCTTCTTCCCCTCGGTTCCTCCCCCGCCGACCTACCTGGAGGCCGATAATAAAGCAGGAGGAGGGAGATGGATGGACGGGAGGGCGGGGCGCCGCGTGGTGCCATAAAGCCCAGCTGGAAGGGGCCTGTCTCGGGAGTGTCCAGCCCCAGGAGCCGGGGACCGTCCGCGTCGCGAGCCGGGCCAAGGCAGTGGGCAGAGGGCAGAGGGCAGAGGGCCGGGGCTGGGGCAGAGGGCGAGTGCCCGGGAAGGCCATGCTGCGGGGCGCGCCAGGACTAGGCCTCACGGCGCGGAAGGGGGCCGAGGACTCTGCGGAGGACTTGGGGGGCCCCTGCCCCGAGCCCGGGGGCGATTCGGGGGTGCTGGGGGCGAACGGCGCTTCCTGCAGCCGGGGCGAGGCGGAGGAGCCGGCGGGCAGGAGGCGCGCGCGGCCGGTGCGGTCCAAGGCGCGGCGCATGGCCGCCGACGTGCGGGAGCGCAAGCGCATCCTAGACTACAACGAGGCCTTCAACGCGCTGCGCCGGGCGCTGCGGCACGACCTGGGCGGCAAGAGGCTCTCCAAGATCGCCACGCTGCGCAGGGCCATCCACCGCATCGCCGCGCTCTCCCTGGTCCTGCGCGCCAGCCCCGCGCCCCGCGGGCCCTGCGGACACCTGGAGTGCCACGGCCCGGCCGCGCGCGGGGACACCGGGGACACAGGCGCCAGCCCCCCGCCGCCTGCAGGGCCCAGCCTCGCGCGCCCAGACGCCGCCCGCCCCTCGGTGCCGTCCGCGCCCCGCTGCGCCTCGTGCCCCCCGCACGCGCCCCTGGCACGGCCCAGTGCGGTGGCCGAGGGGCCGGGCCTAGCACAGGCCTCCGGGGGAAGCTGGCGCCGCTGTCCGGGGGCTTCCTCTGCCGGGCCGCCTCCCTGGCCGCGGGGCTACCTGCGATCCGCCCCCGGGATGGGCCATCCGCGCTCCTGACCGGCCTCGAGGCACCGGCTGGGCTGCAGGGAGGCCGGGCTGGCAGCTGGACTATAAAACCCGGGACTGCAAAGGCGTCTTGGACAGAGCAGAACTGGACCGGCTGAGACCTGGCGTGGAAGAGAAGGAGCTCGCCAGAGAGAAGGAGCTCCGGGACCCGGGGTTGCGCCCCCACATCCCAGCCTGGGGCAGAGAGAAGGAGCTCCGGGGCCTGGGGCTGCGCCCCCACATCCCAGCCTAGGGAGGCAGTTGCCAGAAAGGCTCAGGATCCTGAACTCATCTTGGACTCGAACTCGTCTTGGAATGCCGCCTTCGCACTCCTGCGCCTCCGAGCCCTGTGTGTTCTCGATGCTTTTAGGAGAGTGAGGGCTTTGAGGCAGGAGGTGTGGGAGCGTGGGAATGCGGGTGGGGCCTGCTGTGGTCTCGTGGGCACATGAGTGCGGAGTCCCCTTCCCTGCCTGCGCTGCTGCCCAAGCCTGATCCGGGAGAGGCAGGATCCGGGAGAGGCAGGCAGGGGCAGCAGCCAAATAAAAGGAAAAACTCATTTCTCTCCGATACCACGACTCCAGTGGGCCCCGTGGCCCAGGGTGGCAGGAACGCCTGAGGGCTGGGGGCTCTCCTTGGAATGCTGGGCGGGGCCTAAGGCCCACAGGTAGGCGCCTGGGGGAACTCATTCATGGCAAGACCCCAGGTGTGGCTGAGCACTGTGGGAGCCCAAGGGGAGGAAAGAGACATCCAGAGACCCCTCCTCCCTGAGTCCCCTGGGGTGGAAGAGGATATCAGGAGAGGGGTCACGGGGCCTGGGAGTCTAAGGATGGGGTCAGCCCCGTCTCTGGACCTCCCTGCAGAGCTGCCTGGAAGCAGCCACAGTGAAGGGGGACTCTGGCCAGGTCTCAGGGAAGGAGGCCAAGGGCAGGGCTAGGATTGGGGGCCGGTAAGTCCTGCGTGCATGTACCCCGAGCGACAGGCAGGAAGAGCTCCCAGGGAACCGTGGGCCAGGGCCCCCATAATGAGGGGCCGACTTGGAACCCAGGAAGGATTCTGGGGAGGGGGTTGAGTGAGGGCAGAGGGGCCTCAGGCCAAGCCTGCTGAGCTAGTGAGAGACACAGCCAGCTGCCCCGAGAGTTTTGTCCAGAGAGCTGCCCTGCATCTGAGATGAGCTGGTGTCTGGCCCGGCTCAGGGTAAGGGTCTAATATTGCAAGGGCTGCCTGCTGGGCCAGAGCCCAGAGGTGCTGGGGGAGCGCTGGGCTCTTGCCAACAGGAGAGGGAAGGGTTCCCCACAGCTAGCTCAGAGTGCGGATCCCACAGAAGCTAGAGAAACGCCATTAGGCGTAAACCCAGGGAGAGTTTCCCAGAGCACGTGGGGTGAGGCTCACCTCTACAGTTAAAAGTGCCTCTGCTGTCTGCAAACCCCAGCCCTGGCTGGCACGCTGAGCATCCTGTCCCCAGCCACAGCCCTTAGGGTTCCCAATTGCGCAGGGAGGCTGTGACACAGACCACGGGAAGGCTTTGACTCTATTGAGAGCGGACGTGGGTCTAGCCAGGAGCA
Task1_train_23160
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.
Pathogenic; Mesoaxial synostotic syndactyly with phalangeal reduction
CAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAACCTGGGAAATACAGATGTCCTTAGGATGCTTTCATCCTAGTGGGCAAGGCAGACAATCACAGAAGTAAATACATACACTCTGCTTCCTAATGCCTTATTATTTTCTTTTATGGAGAAATTCACAGTTTGAAATAATGGGGTTATTGGCAATGCTCTTTTGGCGAGATGGATGTGAACCACACACCCATTCCAATGCCATAGGCCTTGGCATCTTAGAGGCATTTGGATTGTGACTGGGAATGAGTGGCCTTCAGGCGCTCCAAATAACTCAGCTGTGGATGCCGGAAATTCTACTGGGGGTCTTTCTTTGGGAATAAACATCATCTTTTTTCTGAGACCCTCTTTCAAATGCAAATCCCTGGGGGAAGAGGACAGAGGCTGCTCATTGAGTTCATAACCTGGCAGGGCTGTGTCACAAGATGGGGCTGCCCGAGGGCTCTGGACCCCAAAGATGCCCCTGATGTGGACCCAGGGCTGCAAAGGGATCTTCCCCGTCACCCTCTGCTGCTGACTCATCCCAGCTCTGCCTGCAGAAGGGGAGTCAAAGGGCAGTGGAGGGAGAGTCAGGCCCAACCAAAACCCGAACCCCAATTGCAGCCAGCCGCCCTCCATAGCTGAAAAAGCCGGAAGCTCTGGGTCAGCTTTACCTGCAGGGCCCTGCGCCTCCCATATGAGTCCTGCCGGGACACTCATGCTTTTCCTCAGTGACATCTCTGTGGTTGCCCACGGGACTTGACAAGAACTTTCAAGGTTTTGTTGTTGTTTTTGTTGTTGTTTTTCTGAGACGGAGTCTCGTTCTGTCTCCCAGGCTAGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCAGCTCCTGGGCTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGACGGGGTTTTATATACTCTGTTGGCCAGGCTGGTCTCGAACTCCTGAACTCAAGTGATCCGCCCGCCTCGGCCTCCCAAACTGCTGGGATGACAGGCGTGAGCCCCAGTGCCCGGCCCTCTGCCTCTTTTTATTCCTATCAGCTCTCCTGCTAGAAGCCAAACTTAGCACCTTATCTGGGAATGGGGAGGAAGAATGTGGAACCCAGACACCCCACAGCGGCCCCAGAGCTAGGCAGGGCAAGGTCCCCGGGGCAGCGTGGCCGGGCTGCCCGTCTGGTCCCCGCTTACAAGAACCTGCAAGCTTCCCTCCTTGCTTTCCTTCTTCCCCTCGGTTCCTCCCCCGCCGACCTACCTGGAGGCCGATAATAAAGCAGGAGGAGGGAGATGGATGGACGGGAGGGCGGGGCGCCGCGTGGTGCCATAAAGCCCAGCTGGAAGGGGCCTGTCTCGGGAGTGTCCAGCCCCAGGAGCCGGGGACCGTCCGCGTCGCGAGCCGGGCCAAGGCAGTGGGCAGAGGGCAGAGGGCAGAGGGCCGGGGCTGGGGCAGAGGGCGAGTGCCCGGGAAGGCCATGCTGCGGGGCGCGCCAGGACTAGGCCTCACGGCGCGGAAGGGGGCCGAGGACTCTGCGGAGGACTTGGGGGGCCCCTGCCCCGAGCCCGGGGGCGATTCGGGGGTGCTGGGGGCGAACGGCGCTTCCTGCAGCCGGGGCGAGGCGGAGGAGCCGGCGGGCAGGAGGCGCGCGCGGCCGGTGCGGTCCAAGGCGCGGCGCATGGCCGCCAACGTGCGGGAGCGCAAGCGCATCCTAGACTACAACGAGGCCTTCAACGCGCTGCGCCGGGCGCTGCGGCACGACCTGGGCGGCAAGAGGCTCTCCAAGATCGCCACGCTGCGCAGGGCCATCCACCGCATCGCCGCGCTCTCCCTGGTCCTGCGCGCCAGCCCCGCGCCCCGCGGGCCCTGCGGACACCTGGAGTGCCACGGCCCGGCCGCGCGCGGGGACACCGGGGACACAGGCGCCAGCCCCCCGCCGCCTGCAGGGCCCAGCCTCGCGCGCCCAGACGCCGCCCGCCCCTCGGTGCCGTCCGCGCCCCGCTGCGCCTCGTGCCCCCCGCACGCGCCCCTGGCACGGCCCAGTGCGGTGGCCGAGGGGCCGGGCCTAGCACAGGCCTCCGGGGGAAGCTGGCGCCGCTGTCCGGGGGCTTCCTCTGCCGGGCCGCCTCCCTGGCCGCGGGGCTACCTGCGATCCGCCCCCGGGATGGGCCATCCGCGCTCCTGACCGGCCTCGAGGCACCGGCTGGGCTGCAGGGAGGCCGGGCTGGCAGCTGGACTATAAAACCCGGGACTGCAAAGGCGTCTTGGACAGAGCAGAACTGGACCGGCTGAGACCTGGCGTGGAAGAGAAGGAGCTCGCCAGAGAGAAGGAGCTCCGGGACCCGGGGTTGCGCCCCCACATCCCAGCCTGGGGCAGAGAGAAGGAGCTCCGGGGCCTGGGGCTGCGCCCCCACATCCCAGCCTAGGGAGGCAGTTGCCAGAAAGGCTCAGGATCCTGAACTCATCTTGGACTCGAACTCGTCTTGGAATGCCGCCTTCGCACTCCTGCGCCTCCGAGCCCTGTGTGTTCTCGATGCTTTTAGGAGAGTGAGGGCTTTGAGGCAGGAGGTGTGGGAGCGTGGGAATGCGGGTGGGGCCTGCTGTGGTCTCGTGGGCACATGAGTGCGGAGTCCCCTTCCCTGCCTGCGCTGCTGCCCAAGCCTGATCCGGGAGAGGCAGGATCCGGGAGAGGCAGGCAGGGGCAGCAGCCAAATAAAAGGAAAAACTCATTTCTCTCCGATACCACGACTCCAGTGGGCCCCGTGGCCCAGGGTGGCAGGAACGCCTGAGGGCTGGGGGCTCTCCTTGGAATGCTGGGCGGGGCCTAAGGCCCACAGGTAGGCGCCTGGGGGAACTCATTCATGGCAAGACCCCAGGTGTGGCTGAGCACTGTGGGAGCCCAAGGGGAGGAAAGAGACATCCAGAGACCCCTCCTCCCTGAGTCCCCTGGGGTGGAAGAGGATATCAGGAGAGGGGTCACGGGGCCTGGGAGTCTAAGGATGGGGTCAGCCCCGTCTCTGGACCTCCCTGCAGAGCTGCCTGGAAGCAGCCACAGTGAAGGGGGACTCTGGCCAGGTCTCAGGGAAGGAGGCCAAGGGCAGGGCTAGGATTGGGGGCCGGTAAGTCCTGCGTGCATGTACCCCGAGCGACAGGCAGGAAGAGCTCCCAGGGAACCGTGGGCCAGGGCCCCCATAATGAGGGGCCGACTTGGAACCCAGGAAGGATTCTGGGGAGGGGGTTGAGTGAGGGCAGAGGGGCCTCAGGCCAAGCCTGCTGAGCTAGTGAGAGACACAGCCAGCTGCCCCGAGAGTTTTGTCCAGAGAGCTGCCCTGCATCTGAGATGAGCTGGTGTCTGGCCCGGCTCAGGGTAAGGGTCTAATATTGCAAGGGCTGCCTGCTGGGCCAGAGCCCAGAGGTGCTGGGGGAGCGCTGGGCTCTTGCCAACAGGAGAGGGAAGGGTTCCCCACAGCTAGCTCAGAGTGCGGATCCCACAGAAGCTAGAGAAACGCCATTAGGCGTAAACCCAGGGAGAGTTTCCCAGAGCACGTGGGGTGAGGCTCACCTCTACAGTTAAAAGTGCCTCTGCTGTCTGCAAACCCCAGCCCTGGCTGGCACGCTGAGCATCCTGTCCCCAGCCACAGCCCTTAGGGTTCCCAATTGCGCAGGGAGGCTGTGACACAGACCACGGGAAGGCTTTGACTCTATTGAGAGCGGACGTGGGTCTAGCCAGGAGCAGCAACGCAGGAGA
CAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAACCTGGGAAATACAGATGTCCTTAGGATGCTTTCATCCTAGTGGGCAAGGCAGACAATCACAGAAGTAAATACATACACTCTGCTTCCTAATGCCTTATTATTTTCTTTTATGGAGAAATTCACAGTTTGAAATAATGGGGTTATTGGCAATGCTCTTTTGGCGAGATGGATGTGAACCACACACCCATTCCAATGCCATAGGCCTTGGCATCTTAGAGGCATTTGGATTGTGACTGGGAATGAGTGGCCTTCAGGCGCTCCAAATAACTCAGCTGTGGATGCCGGAAATTCTACTGGGGGTCTTTCTTTGGGAATAAACATCATCTTTTTTCTGAGACCCTCTTTCAAATGCAAATCCCTGGGGGAAGAGGACAGAGGCTGCTCATTGAGTTCATAACCTGGCAGGGCTGTGTCACAAGATGGGGCTGCCCGAGGGCTCTGGACCCCAAAGATGCCCCTGATGTGGACCCAGGGCTGCAAAGGGATCTTCCCCGTCACCCTCTGCTGCTGACTCATCCCAGCTCTGCCTGCAGAAGGGGAGTCAAAGGGCAGTGGAGGGAGAGTCAGGCCCAACCAAAACCCGAACCCCAATTGCAGCCAGCCGCCCTCCATAGCTGAAAAAGCCGGAAGCTCTGGGTCAGCTTTACCTGCAGGGCCCTGCGCCTCCCATATGAGTCCTGCCGGGACACTCATGCTTTTCCTCAGTGACATCTCTGTGGTTGCCCACGGGACTTGACAAGAACTTTCAAGGTTTTGTTGTTGTTTTTGTTGTTGTTTTTCTGAGACGGAGTCTCGTTCTGTCTCCCAGGCTAGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCAGCTCCTGGGCTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGACGGGGTTTTATATACTCTGTTGGCCAGGCTGGTCTCGAACTCCTGAACTCAAGTGATCCGCCCGCCTCGGCCTCCCAAACTGCTGGGATGACAGGCGTGAGCCCCAGTGCCCGGCCCTCTGCCTCTTTTTATTCCTATCAGCTCTCCTGCTAGAAGCCAAACTTAGCACCTTATCTGGGAATGGGGAGGAAGAATGTGGAACCCAGACACCCCACAGCGGCCCCAGAGCTAGGCAGGGCAAGGTCCCCGGGGCAGCGTGGCCGGGCTGCCCGTCTGGTCCCCGCTTACAAGAACCTGCAAGCTTCCCTCCTTGCTTTCCTTCTTCCCCTCGGTTCCTCCCCCGCCGACCTACCTGGAGGCCGATAATAAAGCAGGAGGAGGGAGATGGATGGACGGGAGGGCGGGGCGCCGCGTGGTGCCATAAAGCCCAGCTGGAAGGGGCCTGTCTCGGGAGTGTCCAGCCCCAGGAGCCGGGGACCGTCCGCGTCGCGAGCCGGGCCAAGGCAGTGGGCAGAGGGCAGAGGGCAGAGGGCCGGGGCTGGGGCAGAGGGCGAGTGCCCGGGAAGGCCATGCTGCGGGGCGCGCCAGGACTAGGCCTCACGGCGCGGAAGGGGGCCGAGGACTCTGCGGAGGACTTGGGGGGCCCCTGCCCCGAGCCCGGGGGCGATTCGGGGGTGCTGGGGGCGAACGGCGCTTCCTGCAGCCGGGGCGAGGCGGAGGAGCCGGCGGGCAGGAGGCGCGCGCGGCCGGTGCGGTCCAAGGCGCGGCGCATGGCCGCCAACGTGCGGGAGCTCAAGCGCATCCTAGACTACAACGAGGCCTTCAACGCGCTGCGCCGGGCGCTGCGGCACGACCTGGGCGGCAAGAGGCTCTCCAAGATCGCCACGCTGCGCAGGGCCATCCACCGCATCGCCGCGCTCTCCCTGGTCCTGCGCGCCAGCCCCGCGCCCCGCGGGCCCTGCGGACACCTGGAGTGCCACGGCCCGGCCGCGCGCGGGGACACCGGGGACACAGGCGCCAGCCCCCCGCCGCCTGCAGGGCCCAGCCTCGCGCGCCCAGACGCCGCCCGCCCCTCGGTGCCGTCCGCGCCCCGCTGCGCCTCGTGCCCCCCGCACGCGCCCCTGGCACGGCCCAGTGCGGTGGCCGAGGGGCCGGGCCTAGCACAGGCCTCCGGGGGAAGCTGGCGCCGCTGTCCGGGGGCTTCCTCTGCCGGGCCGCCTCCCTGGCCGCGGGGCTACCTGCGATCCGCCCCCGGGATGGGCCATCCGCGCTCCTGACCGGCCTCGAGGCACCGGCTGGGCTGCAGGGAGGCCGGGCTGGCAGCTGGACTATAAAACCCGGGACTGCAAAGGCGTCTTGGACAGAGCAGAACTGGACCGGCTGAGACCTGGCGTGGAAGAGAAGGAGCTCGCCAGAGAGAAGGAGCTCCGGGACCCGGGGTTGCGCCCCCACATCCCAGCCTGGGGCAGAGAGAAGGAGCTCCGGGGCCTGGGGCTGCGCCCCCACATCCCAGCCTAGGGAGGCAGTTGCCAGAAAGGCTCAGGATCCTGAACTCATCTTGGACTCGAACTCGTCTTGGAATGCCGCCTTCGCACTCCTGCGCCTCCGAGCCCTGTGTGTTCTCGATGCTTTTAGGAGAGTGAGGGCTTTGAGGCAGGAGGTGTGGGAGCGTGGGAATGCGGGTGGGGCCTGCTGTGGTCTCGTGGGCACATGAGTGCGGAGTCCCCTTCCCTGCCTGCGCTGCTGCCCAAGCCTGATCCGGGAGAGGCAGGATCCGGGAGAGGCAGGCAGGGGCAGCAGCCAAATAAAAGGAAAAACTCATTTCTCTCCGATACCACGACTCCAGTGGGCCCCGTGGCCCAGGGTGGCAGGAACGCCTGAGGGCTGGGGGCTCTCCTTGGAATGCTGGGCGGGGCCTAAGGCCCACAGGTAGGCGCCTGGGGGAACTCATTCATGGCAAGACCCCAGGTGTGGCTGAGCACTGTGGGAGCCCAAGGGGAGGAAAGAGACATCCAGAGACCCCTCCTCCCTGAGTCCCCTGGGGTGGAAGAGGATATCAGGAGAGGGGTCACGGGGCCTGGGAGTCTAAGGATGGGGTCAGCCCCGTCTCTGGACCTCCCTGCAGAGCTGCCTGGAAGCAGCCACAGTGAAGGGGGACTCTGGCCAGGTCTCAGGGAAGGAGGCCAAGGGCAGGGCTAGGATTGGGGGCCGGTAAGTCCTGCGTGCATGTACCCCGAGCGACAGGCAGGAAGAGCTCCCAGGGAACCGTGGGCCAGGGCCCCCATAATGAGGGGCCGACTTGGAACCCAGGAAGGATTCTGGGGAGGGGGTTGAGTGAGGGCAGAGGGGCCTCAGGCCAAGCCTGCTGAGCTAGTGAGAGACACAGCCAGCTGCCCCGAGAGTTTTGTCCAGAGAGCTGCCCTGCATCTGAGATGAGCTGGTGTCTGGCCCGGCTCAGGGTAAGGGTCTAATATTGCAAGGGCTGCCTGCTGGGCCAGAGCCCAGAGGTGCTGGGGGAGCGCTGGGCTCTTGCCAACAGGAGAGGGAAGGGTTCCCCACAGCTAGCTCAGAGTGCGGATCCCACAGAAGCTAGAGAAACGCCATTAGGCGTAAACCCAGGGAGAGTTTCCCAGAGCACGTGGGGTGAGGCTCACCTCTACAGTTAAAAGTGCCTCTGCTGTCTGCAAACCCCAGCCCTGGCTGGCACGCTGAGCATCCTGTCCCCAGCCACAGCCCTTAGGGTTCCCAATTGCGCAGGGAGGCTGTGACACAGACCACGGGAAGGCTTTGACTCTATTGAGAGCGGACGTGGGTCTAGCCAGGAGCAGCAACGCAGGAGA
Task1_train_23161
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?
Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability
CACTGCAGCGGCCCCTCATGTACCGGCTGGCTCCCAGGCCTGGGCCTCAGGGAGCCAGTGATGAGCTCAAGCCCTCACCCTTCCCCTTCCCTCACCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGCTGAGGCAGGCCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCTAAGGCAAGTCCTAAGGAAGAGATGGTCTCCCTGCTGGGCCTGGCTACCGTACTGTGTGCCTCCCCGCCGCCCTTCACTGCCAGCCTTTAGCTACAGAAGAACCGCTGGGGTGGATGAGGGTGAGTTCGTCAGCATCTGCCCAGCTCCCAGGAGCCCTCGGGAAGGATGAACCAGGGGCTGTCGCTGATGGACTTCCTGCCTTGCCACCACATCACCTTGTACAGTCCAATCCAGTCCCACGGGCTGCTGGGGAAGTCCGAGGTTGAAGAGTAGCTGACCATCATGTCATTTTCCACGGTCCACAGGTCCTCGGGCATCAGGACGATCAGCGGAGCAGACACCAATGGCTTCAGCTAGACACGGGGGTGGGAAGGGGGCTGAATCTCGCAGCATCATTCCCTCCTCTGAGGCCAAGTGTTCCTCACTGTGCCCTTCCAACATAGTGGGGAAGGTGGGGCACCCAGAGGGGGTGGGCATGGAACTCCACTGGGCTGCTCCAACGGACCTTGGCTGGCCATCAGGAAAGAGGGCCGAACACCAGTCGGCGGGTGGCTGGCCCTGTCGGAATCCCATGGGGCCCAGCGCTGGGGGGTAGGAATGGCGGAGAGCAGAGGCACGGCTGAGAGGCTTAAGGAGGCGGCCAGGCAGCTGCTCTCAGGCCTCCCGCCTTATCTGACCCAAAGCCCCACATGGGGGGATGCTCTGGTGAGAACAGCTGTGAACGTGCAAGAACACAACGCAGATACCAGCGGGGGCCAGGCACGGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATAGTGAAACCCTGTGTCTACAAAAAATACATAACAGCCAGGCGTGGTGGCGTGCACCTGTAGTCCCGCTACTAGGGAGGCTGAGGTGGAAGGATCAATCACTTGAGCCCAGGAGGTGGAGGCTTCAGTGAGCTATGATACCGCCACTGCACTCCAGCCTGGGCGGCAGAACGAGACCCTAACACACACACACACACGCCAGTAAACCTGTATGAAAACGTGAAGGCTGAGGGGCAGCAGCCTGAAGGAGGCCAACACCACCTTGGTCATTCAGATAGCAAGATACAAGGACGCAGGGATGGAGGGAGCGCCCGTTGCAACTTGATCCAGATAGATTTAGGACAAATAAAAGAAGTCCTACTTCTCACATTGGGTAATAAGCCTAATGGAACTCATTAGCCCCAAGGGAGAATACCCAAAGGAAATGGAAACCTTTTCACAAAGGGTTTGAACACGGTTTTGACAGACAGAGCCATCAACGGCTCCTAAGAGGAGCTGGGATATCCGACCTGGCAGGAAAGGCAATCATGGCCTCCACAGGTCTCCCCTGGGGGACTGGCTGACATTCGAATCCAGGGATGGAGGGCTTGGGGATGTGGCCAGCATAGCTATTCCTCTGGCAAGTATCAGGCAGCCCAGAAGTTCACCTCCAAGTCGAACGTGCCGGAGACAGGCTTGTGGTCGCTGATGCCGTACGTCATGTGGCTGCTGTAGCCCCTCAGAGACAAGGAGAAGTGTGACGCCGGCGGTATGGGAGTGTCGGGGCCAGCACAGGGCTGCCGCTTCAGCCTCCACAGGATGCGATCGGTCCATGCAGGCTTGCGTTTTTTCTCACTGCAGGGGCAGGGGGCATAAAGAGGAAGAATGGGGAAAGAAGAAAGGGTTGGCTAAGAGCAGAAATGAGCCCACATGAGCTTGCTGGAGCCCCTAACTCCAGCAACTACTGGCAGCCACAGACCCCCGGGGCCAGAGCCGGAGGGAGCAAGGCAGCAGGCAGGAAGGTGCCTAACAGAATCCAAAGTATGCCAGCACTTGTCAGACTTAGCCAGGACCCTCTGTATGTCTAGCTCATGTTTTTATGGATCAAATTGTGACTCAGAAACATTCCATTTCAAAGCTTTGCTTCTTTCTTGAGCAAAAGCAGCAGTGGATCAAAGCAGCTGAGGTTTGAGATTCTGAGGCTGGACACACCTGAGCTTGTATTTGGCTGCCCTGCATACTAGAAGTATGCCTCAGGAAAGGGAAGGGAAGCATTTAGGAAATGCTTACCAGAGGATGCCTGTGATCAGTACTGTTACCACACCTTTTTTTAAATTTAATTTTATTTTTTTAAAGAGACAGGGTCTTGCTCTGTCATGCAGGCTGGAGTGCAGTGGTGACATCACAGCTTACTGTAGCCTCAAACTACTGGGCTCAGGCGATCCCACCTCAGCCTCCTGAGTGGCTGGGACGGTAAGTGCGTGGCACTATGCCTGGCTAATTTTTAAACATTTTTTTGTAAAGACAGTATGTTTCCCAGCCTAGTTTTGAACTGCTGGCCTCAAAGGATCTTCCCATCTCAGCTTCCCAAAGTGTTGGGATTAGAAGGCATGGACCACTGTGCCTGGGTGTATCATGCTCTCTTTACAGGTGGAGAAACTGAGACTTAGCTTAGAGGGGAAGCACCTTTCCCAAAGTCACAAGGTACTAAGTGGTGGAGCCAGGATTCAGGGCCAGCCAGCATGACCACAGAGCATGTGCTCTTAACCACCAAACTAAACTAACCTCTCTCAGGCCTCAACTTCCTCGCCTGCCAGTGGAGGGAATAACAGTAGTTACCATGAAGGGTTGCTAGGATGAGTCAATGAGATAAAGTACATAAAATGTTTAGCACAGTGCTTGGTGCAAAACGAGCTCGCCATGCACACTGGCCTTTATGATTTCCTCTCAAGAGTCGACTGAGAGGCCGCGCGCGGTGCTCACGCCTGTAATCCAAGCACTTTGGGAGGCCAGGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGACTCTCTACTAAAAGTACAAACATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGATAATTGCTTGAAGCTGGCAGGCGGAGGTTGCAGTGAGCTGAGATCATACCACGGCACTCTAGCCTGGGCGACAGAGCAAGACTCTATCTCCAAAAAAAAAGGAGTCGACTGAGAGACCTCCCACCTGTTCTTCACTTGCCAGTTTCCCTGAGGGGTTTGGAAAAGGTAATACGCTCCGGAGACAAAATGCATTCCTCCTCTAGGTAACTGAAGTTGACCAAAGACGAGTCTCTGACCCATAACCCAGCCTTCCGAAGCAACTACTGTGGCAGTTTCTAAGGCCACCTTGTCCTTGAGGCCCTGCCCTCCTGGAGACCAGCAGCTCTGACTCCTGGAGGTGGGGTGTGTGTGTGGCGGGGGAGCAGGACAGCTGCGGTTTCTGGGTTCCACCCCCTTCATGGACAATCTCCTTTCTTGAATCAACCCAGAGTAATAAAGCCTAATTGGATCAATCAATCAATCAATCTATAGACAGGGTCTCACACACTCTATCTCATCTATTGATCGATCGACAGGTCTCACTGTGTTGAATCCTATCTACCTACCTATTGATTGATCAATCCATCGACAGGGTCTTGCTGTGTTGCCCAGGCTGAGTGCGGTGGCACAATCCTAACTCACTGCAGCTTCAAATGCCTGGGCTTC
CACTGCAGCGGCCCCTCATGTACCGGCTGGCTCCCAGGCCTGGGCCTCAGGGAGCCAGTGATGAGCTCAAGCCCTCACCCTTCCCCTTCCCTCACCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGCTGAGGCAGGCCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCTAAGGCAAGTCCTAAGGAAGAGATGGTCTCCCTGCTGGGCCTGGCTACCGTACTGTGTGCCTCCCCGCCGCCCTTCACTGCCAGCCTTTAGCTACAGAAGAACCGCTGGGGTGGATGAGGGTGAGTTCGTCAGCATCTGCCCAGCTCCCAGGAGCCCTCGGGAAGGATGAACCAGGGGCTGTCGCTGATGGACTTCCTGCCTTGCCACCACATCACCTTGTACAGTCCAATCCAGTCCCACGGGCTGCTGGGGAAGTCCGAGGTTGAAGAGTAGCTGACCATCATGTCATTTTCCACGGTCCACAGGTCCTCGGGCATCAGGACGATCAGCGGAGCAGACACCAATGGCTTCAGCTAGACACGGGGGTGGGAAGGGGGCTGAATCTCGCAGCATCATTCCCTCCTCTGAGGCCAAGTGTTCCTCACTGTGCCCTTCCAACATAGTGGGGAAGGTGGGGCACCCAGAGGGGGTGGGCATGGAACTCCACTGGGCTGCTCCAACGGACCTTGGCTGGCCATCAGGAAAGAGGGCCGAACACCAGTCGGCGGGTGGCTGGCCCTGTCGGAATCCCATGGGGCCCAGCGCTGGGGGGTAGGAATGGCGGAGAGCAGAGGCACGGCTGAGAGGCTTAAGGAGGCGGCCAGGCAGCTGCTCTCAGGCCTCCCGCCTTATCTGACCCAAAGCCCCACATGGGGGGATGCTCTGGTGAGAACAGCTGTGAACGTGCAAGAACACAACGCAGATACCAGCGGGGGCCAGGCACGGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATAGTGAAACCCTGTGTCTACAAAAAATACATAACAGCCAGGCGTGGTGGCGTGCACCTGTAGTCCCGCTACTAGGGAGGCTGAGGTGGAAGGATCAATCACTTGAGCCCAGGAGGTGGAGGCTTCAGTGAGCTATGATACCGCCACTGCACTCCAGCCTGGGCGGCAGAACGAGACCCTAACACACACACACACACGCCAGTAAACCTGTATGAAAACGTGAAGGCTGAGGGGCAGCAGCCTGAAGGAGGCCAACACCACCTTGGTCATTCAGATAGCAAGATACAAGGACGCAGGGATGGAGGGAGCGCCCGTTGCAACTTGATCCAGATAGATTTAGGACAAATAAAAGAAGTCCTACTTCTCACATTGGGTAATAAGCCTAATGGAACTCATTAGCCCCAAGGGAGAATACCCAAAGGAAATGGAAACCTTTTCACAAAGGGTTTGAACACGGTTTTGACAGACAGAGCCATCAACGGCTCCTAAGAGGAGCTGGGATATCCGACCTGGCAGGAAAGGCAATCATGGCCTCCACAGGTCTCCCCTGGGGGACTGGCTGACATTCGAATCCAGGGATGGAGGGCTTGGGGATGTGGCCAGCATAGCTATTCCTCTGGCAAGTATCAGGCAGCCCAGAAGTTCACCTCCAAGTCGAACGTGCCGGAGACAGGCTTGTGGTCGCTGATGCCGTACGTCATGTGGCTGCTGCAGCCCCTCAGAGACAAGGAGAAGTGTGACGCCGGCGGTATGGGAGTGTCGGGGCCAGCACAGGGCTGCCGCTTCAGCCTCCACAGGATGCGATCGGTCCATGCAGGCTTGCGTTTTTTCTCACTGCAGGGGCAGGGGGCATAAAGAGGAAGAATGGGGAAAGAAGAAAGGGTTGGCTAAGAGCAGAAATGAGCCCACATGAGCTTGCTGGAGCCCCTAACTCCAGCAACTACTGGCAGCCACAGACCCCCGGGGCCAGAGCCGGAGGGAGCAAGGCAGCAGGCAGGAAGGTGCCTAACAGAATCCAAAGTATGCCAGCACTTGTCAGACTTAGCCAGGACCCTCTGTATGTCTAGCTCATGTTTTTATGGATCAAATTGTGACTCAGAAACATTCCATTTCAAAGCTTTGCTTCTTTCTTGAGCAAAAGCAGCAGTGGATCAAAGCAGCTGAGGTTTGAGATTCTGAGGCTGGACACACCTGAGCTTGTATTTGGCTGCCCTGCATACTAGAAGTATGCCTCAGGAAAGGGAAGGGAAGCATTTAGGAAATGCTTACCAGAGGATGCCTGTGATCAGTACTGTTACCACACCTTTTTTTAAATTTAATTTTATTTTTTTAAAGAGACAGGGTCTTGCTCTGTCATGCAGGCTGGAGTGCAGTGGTGACATCACAGCTTACTGTAGCCTCAAACTACTGGGCTCAGGCGATCCCACCTCAGCCTCCTGAGTGGCTGGGACGGTAAGTGCGTGGCACTATGCCTGGCTAATTTTTAAACATTTTTTTGTAAAGACAGTATGTTTCCCAGCCTAGTTTTGAACTGCTGGCCTCAAAGGATCTTCCCATCTCAGCTTCCCAAAGTGTTGGGATTAGAAGGCATGGACCACTGTGCCTGGGTGTATCATGCTCTCTTTACAGGTGGAGAAACTGAGACTTAGCTTAGAGGGGAAGCACCTTTCCCAAAGTCACAAGGTACTAAGTGGTGGAGCCAGGATTCAGGGCCAGCCAGCATGACCACAGAGCATGTGCTCTTAACCACCAAACTAAACTAACCTCTCTCAGGCCTCAACTTCCTCGCCTGCCAGTGGAGGGAATAACAGTAGTTACCATGAAGGGTTGCTAGGATGAGTCAATGAGATAAAGTACATAAAATGTTTAGCACAGTGCTTGGTGCAAAACGAGCTCGCCATGCACACTGGCCTTTATGATTTCCTCTCAAGAGTCGACTGAGAGGCCGCGCGCGGTGCTCACGCCTGTAATCCAAGCACTTTGGGAGGCCAGGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGACTCTCTACTAAAAGTACAAACATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGATAATTGCTTGAAGCTGGCAGGCGGAGGTTGCAGTGAGCTGAGATCATACCACGGCACTCTAGCCTGGGCGACAGAGCAAGACTCTATCTCCAAAAAAAAAGGAGTCGACTGAGAGACCTCCCACCTGTTCTTCACTTGCCAGTTTCCCTGAGGGGTTTGGAAAAGGTAATACGCTCCGGAGACAAAATGCATTCCTCCTCTAGGTAACTGAAGTTGACCAAAGACGAGTCTCTGACCCATAACCCAGCCTTCCGAAGCAACTACTGTGGCAGTTTCTAAGGCCACCTTGTCCTTGAGGCCCTGCCCTCCTGGAGACCAGCAGCTCTGACTCCTGGAGGTGGGGTGTGTGTGTGGCGGGGGAGCAGGACAGCTGCGGTTTCTGGGTTCCACCCCCTTCATGGACAATCTCCTTTCTTGAATCAACCCAGAGTAATAAAGCCTAATTGGATCAATCAATCAATCAATCTATAGACAGGGTCTCACACACTCTATCTCATCTATTGATCGATCGACAGGTCTCACTGTGTTGAATCCTATCTACCTACCTATTGATTGATCAATCCATCGACAGGGTCTTGCTGTGTTGCCCAGGCTGAGTGCGGTGGCACAATCCTAACTCACTGCAGCTTCAAATGCCTGGGCTTC
Task1_train_23162
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.
Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability
CCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGCTGAGGCAGGCCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCTAAGGCAAGTCCTAAGGAAGAGATGGTCTCCCTGCTGGGCCTGGCTACCGTACTGTGTGCCTCCCCGCCGCCCTTCACTGCCAGCCTTTAGCTACAGAAGAACCGCTGGGGTGGATGAGGGTGAGTTCGTCAGCATCTGCCCAGCTCCCAGGAGCCCTCGGGAAGGATGAACCAGGGGCTGTCGCTGATGGACTTCCTGCCTTGCCACCACATCACCTTGTACAGTCCAATCCAGTCCCACGGGCTGCTGGGGAAGTCCGAGGTTGAAGAGTAGCTGACCATCATGTCATTTTCCACGGTCCACAGGTCCTCGGGCATCAGGACGATCAGCGGAGCAGACACCAATGGCTTCAGCTAGACACGGGGGTGGGAAGGGGGCTGAATCTCGCAGCATCATTCCCTCCTCTGAGGCCAAGTGTTCCTCACTGTGCCCTTCCAACATAGTGGGGAAGGTGGGGCACCCAGAGGGGGTGGGCATGGAACTCCACTGGGCTGCTCCAACGGACCTTGGCTGGCCATCAGGAAAGAGGGCCGAACACCAGTCGGCGGGTGGCTGGCCCTGTCGGAATCCCATGGGGCCCAGCGCTGGGGGGTAGGAATGGCGGAGAGCAGAGGCACGGCTGAGAGGCTTAAGGAGGCGGCCAGGCAGCTGCTCTCAGGCCTCCCGCCTTATCTGACCCAAAGCCCCACATGGGGGGATGCTCTGGTGAGAACAGCTGTGAACGTGCAAGAACACAACGCAGATACCAGCGGGGGCCAGGCACGGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATAGTGAAACCCTGTGTCTACAAAAAATACATAACAGCCAGGCGTGGTGGCGTGCACCTGTAGTCCCGCTACTAGGGAGGCTGAGGTGGAAGGATCAATCACTTGAGCCCAGGAGGTGGAGGCTTCAGTGAGCTATGATACCGCCACTGCACTCCAGCCTGGGCGGCAGAACGAGACCCTAACACACACACACACACGCCAGTAAACCTGTATGAAAACGTGAAGGCTGAGGGGCAGCAGCCTGAAGGAGGCCAACACCACCTTGGTCATTCAGATAGCAAGATACAAGGACGCAGGGATGGAGGGAGCGCCCGTTGCAACTTGATCCAGATAGATTTAGGACAAATAAAAGAAGTCCTACTTCTCACATTGGGTAATAAGCCTAATGGAACTCATTAGCCCCAAGGGAGAATACCCAAAGGAAATGGAAACCTTTTCACAAAGGGTTTGAACACGGTTTTGACAGACAGAGCCATCAACGGCTCCTAAGAGGAGCTGGGATATCCGACCTGGCAGGAAAGGCAATCATGGCCTCCACAGGTCTCCCCTGGGGGACTGGCTGACATTCGAATCCAGGGATGGAGGGCTTGGGGATGTGGCCAGCATAGCTATTCCTCTGGCAAGTATCAGGCAGCCCAGAAGTTCACCTCCAAGTCGAACGTGCCGGAGACAGGCTTGTGGTCGCTGATGCCGTACGTCATGTGGCTGCTGTAGCCCCTCAGAGACAAGGAGAAGTGTGACGCCGGCGGTATGGGAGTGTCGGGGCCAGCACAGGGCTGCCGCTTCAGCCTCCACAGGATGCGATCGGTCCATGCAGGCTTGCGTTTTTTCTCACTGCAGGGGCAGGGGGCATAAAGAGGAAGAATGGGGAAAGAAGAAAGGGTTGGCTAAGAGCAGAAATGAGCCCACATGAGCTTGCTGGAGCCCCTAACTCCAGCAACTACTGGCAGCCACAGACCCCCGGGGCCAGAGCCGGAGGGAGCAAGGCAGCAGGCAGGAAGGTGCCTAACAGAATCCAAAGTATGCCAGCACTTGTCAGACTTAGCCAGGACCCTCTGTATGTCTAGCTCATGTTTTTATGGATCAAATTGTGACTCAGAAACATTCCATTTCAAAGCTTTGCTTCTTTCTTGAGCAAAAGCAGCAGTGGATCAAAGCAGCTGAGGTTTGAGATTCTGAGGCTGGACACACCTGAGCTTGTATTTGGCTGCCCTGCATACTAGAAGTATGCCTCAGGAAAGGGAAGGGAAGCATTTAGGAAATGCTTACCAGAGGATGCCTGTGATCAGTACTGTTACCACACCTTTTTTTAAATTTAATTTTATTTTTTTAAAGAGACAGGGTCTTGCTCTGTCATGCAGGCTGGAGTGCAGTGGTGACATCACAGCTTACTGTAGCCTCAAACTACTGGGCTCAGGCGATCCCACCTCAGCCTCCTGAGTGGCTGGGACGGTAAGTGCGTGGCACTATGCCTGGCTAATTTTTAAACATTTTTTTGTAAAGACAGTATGTTTCCCAGCCTAGTTTTGAACTGCTGGCCTCAAAGGATCTTCCCATCTCAGCTTCCCAAAGTGTTGGGATTAGAAGGCATGGACCACTGTGCCTGGGTGTATCATGCTCTCTTTACAGGTGGAGAAACTGAGACTTAGCTTAGAGGGGAAGCACCTTTCCCAAAGTCACAAGGTACTAAGTGGTGGAGCCAGGATTCAGGGCCAGCCAGCATGACCACAGAGCATGTGCTCTTAACCACCAAACTAAACTAACCTCTCTCAGGCCTCAACTTCCTCGCCTGCCAGTGGAGGGAATAACAGTAGTTACCATGAAGGGTTGCTAGGATGAGTCAATGAGATAAAGTACATAAAATGTTTAGCACAGTGCTTGGTGCAAAACGAGCTCGCCATGCACACTGGCCTTTATGATTTCCTCTCAAGAGTCGACTGAGAGGCCGCGCGCGGTGCTCACGCCTGTAATCCAAGCACTTTGGGAGGCCAGGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGACTCTCTACTAAAAGTACAAACATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGATAATTGCTTGAAGCTGGCAGGCGGAGGTTGCAGTGAGCTGAGATCATACCACGGCACTCTAGCCTGGGCGACAGAGCAAGACTCTATCTCCAAAAAAAAAGGAGTCGACTGAGAGACCTCCCACCTGTTCTTCACTTGCCAGTTTCCCTGAGGGGTTTGGAAAAGGTAATACGCTCCGGAGACAAAATGCATTCCTCCTCTAGGTAACTGAAGTTGACCAAAGACGAGTCTCTGACCCATAACCCAGCCTTCCGAAGCAACTACTGTGGCAGTTTCTAAGGCCACCTTGTCCTTGAGGCCCTGCCCTCCTGGAGACCAGCAGCTCTGACTCCTGGAGGTGGGGTGTGTGTGTGGCGGGGGAGCAGGACAGCTGCGGTTTCTGGGTTCCACCCCCTTCATGGACAATCTCCTTTCTTGAATCAACCCAGAGTAATAAAGCCTAATTGGATCAATCAATCAATCAATCTATAGACAGGGTCTCACACACTCTATCTCATCTATTGATCGATCGACAGGTCTCACTGTGTTGAATCCTATCTACCTACCTATTGATTGATCAATCCATCGACAGGGTCTTGCTGTGTTGCCCAGGCTGAGTGCGGTGGCACAATCCTAACTCACTGCAGCTTCAAATGCCTGGGCTTCAAGCAACCCCCCACCTCCGCCTCCTGACCAGCTGGGACCACAGGCATGTGCCAGGGCACCCGGCTATTTTAGAACCTTTAAGGCATCTTCACTG
CCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGCTGAGGCAGGCCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCTAAGGCAAGTCCTAAGGAAGAGATGGTCTCCCTGCTGGGCCTGGCTACCGTACTGTGTGCCTCCCCGCCGCCCTTCACTGCCAGCCTTTAGCTACAGAAGAACCGCTGGGGTGGATGAGGGTGAGTTCGTCAGCATCTGCCCAGCTCCCAGGAGCCCTCGGGAAGGATGAACCAGGGGCTGTCGCTGATGGACTTCCTGCCTTGCCACCACATCACCTTGTACAGTCCAATCCAGTCCCACGGGCTGCTGGGGAAGTCCGAGGTTGAAGAGTAGCTGACCATCATGTCATTTTCCACGGTCCACAGGTCCTCGGGCATCAGGACGATCAGCGGAGCAGACACCAATGGCTTCAGCTAGACACGGGGGTGGGAAGGGGGCTGAATCTCGCAGCATCATTCCCTCCTCTGAGGCCAAGTGTTCCTCACTGTGCCCTTCCAACATAGTGGGGAAGGTGGGGCACCCAGAGGGGGTGGGCATGGAACTCCACTGGGCTGCTCCAACGGACCTTGGCTGGCCATCAGGAAAGAGGGCCGAACACCAGTCGGCGGGTGGCTGGCCCTGTCGGAATCCCATGGGGCCCAGCGCTGGGGGGTAGGAATGGCGGAGAGCAGAGGCACGGCTGAGAGGCTTAAGGAGGCGGCCAGGCAGCTGCTCTCAGGCCTCCCGCCTTATCTGACCCAAAGCCCCACATGGGGGGATGCTCTGGTGAGAACAGCTGTGAACGTGCAAGAACACAACGCAGATACCAGCGGGGGCCAGGCACGGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATAGTGAAACCCTGTGTCTACAAAAAATACATAACAGCCAGGCGTGGTGGCGTGCACCTGTAGTCCCGCTACTAGGGAGGCTGAGGTGGAAGGATCAATCACTTGAGCCCAGGAGGTGGAGGCTTCAGTGAGCTATGATACCGCCACTGCACTCCAGCCTGGGCGGCAGAACGAGACCCTAACACACACACACACACGCCAGTAAACCTGTATGAAAACGTGAAGGCTGAGGGGCAGCAGCCTGAAGGAGGCCAACACCACCTTGGTCATTCAGATAGCAAGATACAAGGACGCAGGGATGGAGGGAGCGCCCGTTGCAACTTGATCCAGATAGATTTAGGACAAATAAAAGAAGTCCTACTTCTCACATTGGGTAATAAGCCTAATGGAACTCATTAGCCCCAAGGGAGAATACCCAAAGGAAATGGAAACCTTTTCACAAAGGGTTTGAACACGGTTTTGACAGACAGAGCCATCAACGGCTCCTAAGAGGAGCTGGGATATCCGACCTGGCAGGAAAGGCAATCATGGCCTCCACAGGTCTCCCCTGGGGGACTGGCTGACATTCGAATCCAGGGATGGAGGGCTTGGGGATGTGGCCAGCATAGCTATTCCTCTGGCAAGTATCAGGCAGCCCAGAAGTTCACCTCCAAGTCGAACGTGCCGGAGACAGGCTTGTGGTCGCTGATGCCGTACGTCATGTGGCTGCTGTAGCCCCTCAGAGACAAGGAGAAGTGTGACGCCGGCGGTATGGGAGTGTCGGGGCCAGCACAGGGCTGCCGCTTCAGCCTCCACAGGATGCGATTGGTCCATGCAGGCTTGCGTTTTTTCTCACTGCAGGGGCAGGGGGCATAAAGAGGAAGAATGGGGAAAGAAGAAAGGGTTGGCTAAGAGCAGAAATGAGCCCACATGAGCTTGCTGGAGCCCCTAACTCCAGCAACTACTGGCAGCCACAGACCCCCGGGGCCAGAGCCGGAGGGAGCAAGGCAGCAGGCAGGAAGGTGCCTAACAGAATCCAAAGTATGCCAGCACTTGTCAGACTTAGCCAGGACCCTCTGTATGTCTAGCTCATGTTTTTATGGATCAAATTGTGACTCAGAAACATTCCATTTCAAAGCTTTGCTTCTTTCTTGAGCAAAAGCAGCAGTGGATCAAAGCAGCTGAGGTTTGAGATTCTGAGGCTGGACACACCTGAGCTTGTATTTGGCTGCCCTGCATACTAGAAGTATGCCTCAGGAAAGGGAAGGGAAGCATTTAGGAAATGCTTACCAGAGGATGCCTGTGATCAGTACTGTTACCACACCTTTTTTTAAATTTAATTTTATTTTTTTAAAGAGACAGGGTCTTGCTCTGTCATGCAGGCTGGAGTGCAGTGGTGACATCACAGCTTACTGTAGCCTCAAACTACTGGGCTCAGGCGATCCCACCTCAGCCTCCTGAGTGGCTGGGACGGTAAGTGCGTGGCACTATGCCTGGCTAATTTTTAAACATTTTTTTGTAAAGACAGTATGTTTCCCAGCCTAGTTTTGAACTGCTGGCCTCAAAGGATCTTCCCATCTCAGCTTCCCAAAGTGTTGGGATTAGAAGGCATGGACCACTGTGCCTGGGTGTATCATGCTCTCTTTACAGGTGGAGAAACTGAGACTTAGCTTAGAGGGGAAGCACCTTTCCCAAAGTCACAAGGTACTAAGTGGTGGAGCCAGGATTCAGGGCCAGCCAGCATGACCACAGAGCATGTGCTCTTAACCACCAAACTAAACTAACCTCTCTCAGGCCTCAACTTCCTCGCCTGCCAGTGGAGGGAATAACAGTAGTTACCATGAAGGGTTGCTAGGATGAGTCAATGAGATAAAGTACATAAAATGTTTAGCACAGTGCTTGGTGCAAAACGAGCTCGCCATGCACACTGGCCTTTATGATTTCCTCTCAAGAGTCGACTGAGAGGCCGCGCGCGGTGCTCACGCCTGTAATCCAAGCACTTTGGGAGGCCAGGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGACTCTCTACTAAAAGTACAAACATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGATAATTGCTTGAAGCTGGCAGGCGGAGGTTGCAGTGAGCTGAGATCATACCACGGCACTCTAGCCTGGGCGACAGAGCAAGACTCTATCTCCAAAAAAAAAGGAGTCGACTGAGAGACCTCCCACCTGTTCTTCACTTGCCAGTTTCCCTGAGGGGTTTGGAAAAGGTAATACGCTCCGGAGACAAAATGCATTCCTCCTCTAGGTAACTGAAGTTGACCAAAGACGAGTCTCTGACCCATAACCCAGCCTTCCGAAGCAACTACTGTGGCAGTTTCTAAGGCCACCTTGTCCTTGAGGCCCTGCCCTCCTGGAGACCAGCAGCTCTGACTCCTGGAGGTGGGGTGTGTGTGTGGCGGGGGAGCAGGACAGCTGCGGTTTCTGGGTTCCACCCCCTTCATGGACAATCTCCTTTCTTGAATCAACCCAGAGTAATAAAGCCTAATTGGATCAATCAATCAATCAATCTATAGACAGGGTCTCACACACTCTATCTCATCTATTGATCGATCGACAGGTCTCACTGTGTTGAATCCTATCTACCTACCTATTGATTGATCAATCCATCGACAGGGTCTTGCTGTGTTGCCCAGGCTGAGTGCGGTGGCACAATCCTAACTCACTGCAGCTTCAAATGCCTGGGCTTCAAGCAACCCCCCACCTCCGCCTCCTGACCAGCTGGGACCACAGGCATGTGCCAGGGCACCCGGCTATTTTAGAACCTTTAAGGCATCTTCACTG
Task1_train_23163
This variant impacts the gene INPP5K (inositol polyphosphate-5-phosphatase K) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability
GGTTTCTCCAAGTTGGTCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAGAGTGCTGGAATTACAGGCATAAGCCACCGTGCCCGGCCCCTATTCTTCTTTTTTAAATAATTCATTTCATGCTTTGTATCTGACTCTCTATTCTAAAGCACATCCAGGGTCTGTTACCCTGGCTTTTCCATGTGAAGATCAGGCGTGGCTGCCTCACCCCTGGATGCGAAGCCCTGCTAGACAGCCTCCCCCACCAGACCTGGGCAAAAGAAAACAGCAGCGAGGGCATCTAGCAACACTCTGCACAGCTCACATGGCCCCCACCGTGGGCTCAGATCACCCCCTGGGACCCTCCCCTCACTGGATACCTGGTCCTTCTCCCACAGGCCACCGTAGCACCGATTTTTAATGGATTCCCGAACAAAGTGCAACCCAAAGTCCTCGATCCGAAAGTTCATGTCTCCAAACCAGATAATGAGGCTTCAGAAAAAAAGGAGGGCAGCCTGAGGATTTGTGATGAAGTCGGGGAAGGGAGATCACCAGGTGGCTCAGCCTGCTCAACCCAAGGGCTGCTGGGGCACAGAAAACCTGAGGGGCAAGTGAGACGCCAGGGCACGCGTGGGTCCTCTGGAACTGTTCTCATGGCTCCTAAACCACCATTCAAACCGGAGAGACCTACCAAAGAGCCTGCTCTGGCAAACACAGAGCAGGCTGTGGCCCTTCCTTCCTCTCCTTAACTGGTCACGAGGAAAGGCTGAGAAGCCCTCCTGGTGACCTCAGGAGCCACAAGGTCCTTGACCTGTTCCCAAGTGTTCAGGGTTTCTAAGCAAGACAGACGGGCTGGAGGAAGGGGACCCCAGGCAGGCAAAGCAAGGGGAGACAGCAGATGGGCACCAGGGAAGGGTCAGGGAGAGGGTGGGAGCCAGAACACTGACGACACTGGCTGGGGGATCCGTGATGGAGCAGAGGATGCTGGCTTGGGTTAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAGCGGTCTGCAGACCCAGGCTCACTCGTGGGGGTTAGTGGGGGTTAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCCAGACCCAGGCTCACTCGTGGTCCAGGATGTTTGGGATGTCTCGCCCCTCACAATTCTGCATCTCCAGGATCCGGTCAAAGTGCTCCAGCCGCTGGTAATTGTTGGAAATGTGGGGAGGCAGGTGGCAGTTGATGATGCTGACATAGTAGCCATAAAGCTTCAGGCAGATGTTGACTCCACCTTTGTTCCCCTGGTAGAACAGGTCAACAGAAGAGTGGGAAGCTACTCGGGTTGGACACACCCCTCTTTCCACATCCTGGACCTGAGGGCAGACAGTCTCACTTCCTGCAGGGTCTCCTAGGGACAGTAACTAAGCTTCCCAGGGTGATCTCTCCATGCACAGAGCCCAGCTCGCCTCGCCTGGCCTCAGGGATAGCAAGCCCACTCTGAGGCAAAAGAACAAACATGCATTGGGCTGGACAGAGGACCAAGATTCCTTTCACTTCCTTTTTCTTTTGCCCAGCTCCACAGTTCCCAGCCCTTCCCAGCTCACGACTCAGACAATAGCTCAGTCCTTACCCAGTACCCAAACAGGCCAGTGGGGGTGGATTTAGTAGACAGAATCTGGATATAGGGCAAATGCTGATACTTGGCAAAGACCAGTAAGAGGATCCCCTGCATACGGACATGGGAGACCTGCAGGAGAGAGAGGGCAAAGGTCGCTCATTAAACCACACAGGCCAAGTGCATCCCTTCCAAGCTCCGTGCTAGGGACTCTAGAGAGCCCTCAGCTACATGCAGTGTCCTGCTCCAGGGTCTACGATATCCCAGTTTGAATCTCAGAGTTTCAAGCCTTTCCATTCTTCTTCTCAGCTGCCAAATGATACATTCTGGGGGCTGAGGTTTTCGATTCTGCGCCTAGGCGTGCGGGTGGCGGGAAGAGAAGATAAGCTAAGGATACTGGCTTTGAAGTTAGATCTGGGTTCAAACCCTGGCTCTGATTCTTAGTATTTGACATTGAGGCAGTTTCTCAGTGTATTTTCTCATTGATAAAGTAGGAATCCATCTCATAGATGCTGTGGGGATTATCTGAAAGCTATTATTTTTTGGTTTCAGCATTCTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGTGATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCAGGTCTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCTCGACCTCAGGTGATCTGCCTGCCTTGGCCTCTCAAAGTGCTGGGATTGTAGGCGTGAGCCACCGCGCCCGGCCAAGCATTCTTAAAAGGAAGGAACATAAGAGGTTTCCAGGATACTGGGAAATGCTCTTCTTTATCCCCTTCCCTTCCTCCCTCTCTCCTTGGAAATGTTCTTTATCCACCAGCTGCCCCCATTCCTCCCTTTTTACTTAGAGACAGGATTTCGCTCTGTCTACCAGGCTGGAGTGCAGTGGTGCAATCACGGCTCGCTGCAGCCTTGACATCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACCACAGGTGTGCACCAACATGCCCGGCTATTTTTGTTTGTTTTGTAGAGACAGGGTCTTGCCATATTGCCCAGGGTGGTCTTGAACTCCTGGGTTCAAGCAATCTCCCTGCCTCTATAATCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTACTCGGCCTGCTCTTTATCTAGATGTGGCTGATGGTAACATGGGTATATGCAAAAACCCATCAAAGTGTACACTGAATTTCTGCATGCTTTTCTGTGTACATTATAGCTCAGTGAAAAAAAAATAAGAAAATGCTCCCCCCAAACCCCATAACTATATACTGCGTGCAGCTGGGTGTCCATGAAGGCAACGCCCATGGAATGCCAGTGGGTAAGGACACATGTGCACAGGCTAGGGAGAATAGCTAACATCTGCTCAAGTGCCTCCTCTCTCATTTACTCCTGCCAAGCCTGTAAGGAATCACCGTCCCTGTTTTGTAGTTGAGGAACTAAGATTTAGGGAGGCTAAGGAACCAGTAGGGCTACCTGTATTGTAAAACAACATCAAAGGGCTAGGACTGCCAAGATCCCTACTATCTGCAGCTGCAAAAGGTGGGGTGGGAATGGGCCGCAGCCAGTAGCTCTCCCTCTCAGGTTCAGGCTGTCTACCACCGGCACCCGAGGAGCCGTTTCCGGAGAATGAAGTGTGGAGGCCAAGGAGGAAATCCCCGGGTGGGGAGCGTGTACTGGGGCCTTCCAGGAATTATGAAACTTGATCCTGCAGGCCACGAGCCCTGGCATAGCGGAGTCGAAGCAGGGGGAACCTCAAACCCAGCACTGGGTAAGGGAGGCATCAGAACTTCAGGTGGGCCAGAGGTTGCTACAGGTGTGTCCTCAAGCCTACTTCCTCCCCAGTCTTCTCTCTCCTACACCCAAGCACACGTGCCAACAGGGATGGAGGACGGGCTGGACCATGAGGGGCTGACTCCCAGGGTCAGGATTGAAGCAAGGGGACTGATAAAGACTCAGGAAAAGTTTCAGGCTTAATCCCCACCCACAAAGCAGCTTTAGGCCACTGGGTTCCACCACAAAGAC
GGTTTCTCCAAGTTGGTCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAGAGTGCTGGAATTACAGGCATAAGCCACCGTGCCCGGCCCCTATTCTTCTTTTTTAAATAATTCATTTCATGCTTTGTATCTGACTCTCTATTCTAAAGCACATCCAGGGTCTGTTACCCTGGCTTTTCCATGTGAAGATCAGGCGTGGCTGCCTCACCCCTGGATGCGAAGCCCTGCTAGACAGCCTCCCCCACCAGACCTGGGCAAAAGAAAACAGCAGCGAGGGCATCTAGCAACACTCTGCACAGCTCACATGGCCCCCACCGTGGGCTCAGATCACCCCCTGGGACCCTCCCCTCACTGGATACCTGGTCCTTCTCCCACAGGCCACCGTAGCACCGATTTTTAATGGATTCCCGAACAAAGTGCAACCCAAAGTCCTCGATCCGAAAGTTCATGTCTCCAAACCAGATAATGAGGCTTCAGAAAAAAAGGAGGGCAGCCTGAGGATTTGTGATGAAGTCGGGGAAGGGAGATCACCAGGTGGCTCAGCCTGCTCAACCCAAGGGCTGCTGGGGCACAGAAAACCTGAGGGGCAAGTGAGACGCCAGGGCACGCGTGGGTCCTCTGGAACTGTTCTCATGGCTCCTAAACCACCATTCAAACCGGAGAGACCTACCAAAGAGCCTGCTCTGGCAAACACAGAGCAGGCTGTGGCCCTTCCTTCCTCTCCTTAACTGGTCACGAGGAAAGGCTGAGAAGCCCTCCTGGTGACCTCAGGAGCCACAAGGTCCTTGACCTGTTCCCAAGTGTTCAGGGTTTCTAAGCAAGACAGACGGGCTGGAGGAAGGGGACCCCAGGCAGGCAAAGCAAGGGGAGACAGCAGATGGGCACCAGGGAAGGGTCAGGGAGAGGGTGGGAGCCAGAACACTGACGACACTGGCTGGGGGATCCGTGATGGAGCAGAGGATGCTGGCTTGGGTTAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAGCGGTCTGCAGACCCAGGCTCACTCGTGGGGGTTAGTGGGGGTTAGCGTGGGGCAGAGGGCGGGGAACGGTCTGCCAGACCCAGGCTCACTCGTGGTCCAGGATGTTTGGGATGTCTCGCCCCTCACAATTCTGCATCTCCAGGATCCGGTCAAAGTGCTCCAGCCGCTGGTAATTGTTGGAAATGTGGGGAGGCAGGTGGCAGTTGATGATGCTGACATAGTAGCCATAAAGCTTCAGGCAGATGTTGACTCCACCTTTGTTCCCCTGGTAGAACAGGTCAACAGAAGAGTGGGAAGCTACTCGGGTTGGACACACCCCTCTTTCCACATCCTGGACCTGAGGGCAGACAGTCTCACTTCCTGCAGGGTCTCCTAGGGACAGTAACTAAGCTTCCCAGGGTGATCTCTCCATGCACAGAGCCCAGCTCGCCTCGCCTGGCCTCAGGGATAGCAAGCCCACTCTGAGGCAAAAGAACAAACATGCATTGGGCTGGACAGAGGACCAAGATTCCTTTCACTTCCTTTTTCTTTTGCCCAGCTCCACAGTTCCCAGCCCTTCCCAGCTCACGACTCAGACAATAGCTCAGTCCTTACCCAGTACCCAAACAGGCCAGTGGGGGTGGATTTAGTAGACAGAATCTGGATATAGGGCAAATGCTGATACTTGGCAAAGACCAGTAAGAGGATCCCCTGCACACGGACATGGGAGACCTGCAGGAGAGAGAGGGCAAAGGTCGCTCATTAAACCACACAGGCCAAGTGCATCCCTTCCAAGCTCCGTGCTAGGGACTCTAGAGAGCCCTCAGCTACATGCAGTGTCCTGCTCCAGGGTCTACGATATCCCAGTTTGAATCTCAGAGTTTCAAGCCTTTCCATTCTTCTTCTCAGCTGCCAAATGATACATTCTGGGGGCTGAGGTTTTCGATTCTGCGCCTAGGCGTGCGGGTGGCGGGAAGAGAAGATAAGCTAAGGATACTGGCTTTGAAGTTAGATCTGGGTTCAAACCCTGGCTCTGATTCTTAGTATTTGACATTGAGGCAGTTTCTCAGTGTATTTTCTCATTGATAAAGTAGGAATCCATCTCATAGATGCTGTGGGGATTATCTGAAAGCTATTATTTTTTGGTTTCAGCATTCTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGTGATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCAGGTCTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCTCGACCTCAGGTGATCTGCCTGCCTTGGCCTCTCAAAGTGCTGGGATTGTAGGCGTGAGCCACCGCGCCCGGCCAAGCATTCTTAAAAGGAAGGAACATAAGAGGTTTCCAGGATACTGGGAAATGCTCTTCTTTATCCCCTTCCCTTCCTCCCTCTCTCCTTGGAAATGTTCTTTATCCACCAGCTGCCCCCATTCCTCCCTTTTTACTTAGAGACAGGATTTCGCTCTGTCTACCAGGCTGGAGTGCAGTGGTGCAATCACGGCTCGCTGCAGCCTTGACATCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACCACAGGTGTGCACCAACATGCCCGGCTATTTTTGTTTGTTTTGTAGAGACAGGGTCTTGCCATATTGCCCAGGGTGGTCTTGAACTCCTGGGTTCAAGCAATCTCCCTGCCTCTATAATCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTACTCGGCCTGCTCTTTATCTAGATGTGGCTGATGGTAACATGGGTATATGCAAAAACCCATCAAAGTGTACACTGAATTTCTGCATGCTTTTCTGTGTACATTATAGCTCAGTGAAAAAAAAATAAGAAAATGCTCCCCCCAAACCCCATAACTATATACTGCGTGCAGCTGGGTGTCCATGAAGGCAACGCCCATGGAATGCCAGTGGGTAAGGACACATGTGCACAGGCTAGGGAGAATAGCTAACATCTGCTCAAGTGCCTCCTCTCTCATTTACTCCTGCCAAGCCTGTAAGGAATCACCGTCCCTGTTTTGTAGTTGAGGAACTAAGATTTAGGGAGGCTAAGGAACCAGTAGGGCTACCTGTATTGTAAAACAACATCAAAGGGCTAGGACTGCCAAGATCCCTACTATCTGCAGCTGCAAAAGGTGGGGTGGGAATGGGCCGCAGCCAGTAGCTCTCCCTCTCAGGTTCAGGCTGTCTACCACCGGCACCCGAGGAGCCGTTTCCGGAGAATGAAGTGTGGAGGCCAAGGAGGAAATCCCCGGGTGGGGAGCGTGTACTGGGGCCTTCCAGGAATTATGAAACTTGATCCTGCAGGCCACGAGCCCTGGCATAGCGGAGTCGAAGCAGGGGGAACCTCAAACCCAGCACTGGGTAAGGGAGGCATCAGAACTTCAGGTGGGCCAGAGGTTGCTACAGGTGTGTCCTCAAGCCTACTTCCTCCCCAGTCTTCTCTCTCCTACACCCAAGCACACGTGCCAACAGGGATGGAGGACGGGCTGGACCATGAGGGGCTGACTCCCAGGGTCAGGATTGAAGCAAGGGGACTGATAAAGACTCAGGAAAAGTTTCAGGCTTAATCCCCACCCACAAAGCAGCTTTAGGCCACTGGGTTCCACCACAAAGAC
Task1_train_23164
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?
Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability
TATGAAACTTGATCCTGCAGGCCACGAGCCCTGGCATAGCGGAGTCGAAGCAGGGGGAACCTCAAACCCAGCACTGGGTAAGGGAGGCATCAGAACTTCAGGTGGGCCAGAGGTTGCTACAGGTGTGTCCTCAAGCCTACTTCCTCCCCAGTCTTCTCTCTCCTACACCCAAGCACACGTGCCAACAGGGATGGAGGACGGGCTGGACCATGAGGGGCTGACTCCCAGGGTCAGGATTGAAGCAAGGGGACTGATAAAGACTCAGGAAAAGTTTCAGGCTTAATCCCCACCCACAAAGCAGCTTTAGGCCACTGGGTTCCACCACAAAGACACTGGCTCGCTTTGTGAAGGAGCAGCAGGGAAGTGGGGGCGGGGAGGGTGGGGTCGGGGCAGGACAGAGTTAGACTGGGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTCAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAATAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCACGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCA
TATGAAACTTGATCCTGCAGGCCACGAGCCCTGGCATAGCGGAGTCGAAGCAGGGGGAACCTCAAACCCAGCACTGGGTAAGGGAGGCATCAGAACTTCAGGTGGGCCAGAGGTTGCTACAGGTGTGTCCTCAAGCCTACTTCCTCCCCAGTCTTCTCTCTCCTACACCCAAGCACACGTGCCAACAGGGATGGAGGACGGGCTGGACCATGAGGGGCTGACTCCCAGGGTCAGGATTGAAGCAAGGGGACTGATAAAGACTCAGGAAAAGTTTCAGGCTTAATCCCCACCCACAAAGCAGCTTTAGGCCACTGGGTTCCACCACAAAGACACTGGCTCGCTTTGTGAAGGAGCAGCAGGGAAGTGGGGGCGGGGAGGGTGGGGTCGGGGCAGGACAGAGTTAGACTGGGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTAAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAATAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCACGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCA
Task1_train_23165
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?
Pathogenic; not provided
AAGACACTGGCTCGCTTTGTGAAGGAGCAGCAGGGAAGTGGGGGCGGGGAGGGTGGGGTCGGGGCAGGACAGAGTTAGACTGGGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTCAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAATAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCACGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCAGAGGGTACAGGGGGATGGGAGAAAAGGGCAGTTAATGCCAAAACATCTCTCCTCCAACAGACCCCGTCCTTAGAGGTCGACGTTCTCAAAAGCACTTCAAGAAATTCTTGGCCAGTTTAAAGCAACTTCCTGTCCCTCCCTGTTAGCATAAACAACACTATACAGAAACCACCTTCCCAGGCACTCGGCCTGAGATTTTGAGCTTCATTTGTTTACGATCTCCCCCTGCTGTCCGACAGAGGCTTAAGGAACAAAGACCTTTTACTCAGAGACTTCTTTTCCCAGACTCACTCTAAGAGGATGGAGAGCAAAAGTCCGGATTTCTT
AAGACACTGGCTCGCTTTGTGAAGGAGCAGCAGGGAAGTGGGGGCGGGGAGGGTGGGGTCGGGGCAGGACAGAGTTAGACTGGGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTCAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAGTAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCACGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCAGAGGGTACAGGGGGATGGGAGAAAAGGGCAGTTAATGCCAAAACATCTCTCCTCCAACAGACCCCGTCCTTAGAGGTCGACGTTCTCAAAAGCACTTCAAGAAATTCTTGGCCAGTTTAAAGCAACTTCCTGTCCCTCCCTGTTAGCATAAACAACACTATACAGAAACCACCTTCCCAGGCACTCGGCCTGAGATTTTGAGCTTCATTTGTTTACGATCTCCCCCTGCTGTCCGACAGAGGCTTAAGGAACAAAGACCTTTTACTCAGAGACTTCTTTTCCCAGACTCACTCTAAGAGGATGGAGAGCAAAAGTCCGGATTTCTT
Task1_train_23166
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.
Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability
GGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTCAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAATAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCACGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCAGAGGGTACAGGGGGATGGGAGAAAAGGGCAGTTAATGCCAAAACATCTCTCCTCCAACAGACCCCGTCCTTAGAGGTCGACGTTCTCAAAAGCACTTCAAGAAATTCTTGGCCAGTTTAAAGCAACTTCCTGTCCCTCCCTGTTAGCATAAACAACACTATACAGAAACCACCTTCCCAGGCACTCGGCCTGAGATTTTGAGCTTCATTTGTTTACGATCTCCCCCTGCTGTCCGACAGAGGCTTAAGGAACAAAGACCTTTTACTCAGAGACTTCTTTTCCCAGACTCACTCTAAGAGGATGGAGAGCAAAAGTCCGGATTTCTTGTTCCCACTCTCAAATCCGACGATTAGCAGCAAATCCAAGCATCGTGACTTAGACTAAGTGGGCGATTAGCGTTGTTCCCCG
GGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTCCATCCTACCAATCCTTTGCCAGTCAGCCGAGAAGCAAGGAGGCCTGCAGTCTTGGGAAGGGAGTGGCGGGTGAGAGAGAAGTGGTTGTGTCCTCTGTAAGGATCTAGCTCCCTATCTACAGAAGGAGGCCTCTGGGTTTGATGTGGAGGGAACCAAGGACTCGGGCTGGTGTTTTCTATCCTCAGCAGGAGTTCTAAACCTTAGATTCTTTCCTCCCCATTCTGCTCCCCCTCCAAAGGACACACAGCTCTTGCCTCAGTACCCCCAGGCAAACTAGGCTGACAGAATCCATTCTGAAGAACAAGAGTCATCCAGGAAGGGGAAAGAGGGAATTCTGGTATTTCTAAGCAGCTGTATACCAGGTGCTGTGAATGGGAGTGTGTTTCATTCCTCAGGTGTGCAGGGCAGAACCAAGGTGAAGGTGAAGATCTGGCAACCCAGGGCCTTCCTGTGGACTCTCCTACTGTCTAAAGACACCCCAGAGTATACTGGTCTCTCAGACTAAGAAAGCCGCCCAAAGTACCCACCACACCTGACTCCCCTCTCCTAACCTCTGGACCCCCAGAATCTGAAGTGCACGTCCCGTATGACCTGAGGATACCCTATGACACCAGCAGGCTAGCCACGCCTAAGATCTGTCAGTCTTAGAGTTCACCAGCATAGCAATAAGGTATTAGTAGTTAAGAACTTGGGTTATGAAGTTTGAGAGATCTGGATCCAAATCCCAGATAGCGCATGTGGCTTCTGAGCCATGGTTTTCTCTGTAAAATATCTCTATTTCAACAGACTTGTTAAGATTTTAAAATAACATATATACTATAAAGAGCTACTTATGATGTGTAACAACAAGTAAGCACTTGATAAATGACAGCCGTATGATTACACTCAGAGACTTCAGGATGGGCATTTGAGTAGAGACTGGTGGCTGGGGCAGCGGCCAGCACTGAGGTGATGACAAGCCCTGCTGCACCTCCCCTCAGAATCTTCCCAAGCTGAAACATATCCAGGTGTTAACCCAACCCCTGGAGACTCCAGCTCCCTCAGAAAGGCGAAGGCAGGCAGGGGCCCCGGGGTCCAGGTGGAAGGGAGGTTTAGCCCTTTAAACAAATGGGAAACAGCATGAAAGGCTGAGCAGGAGTAAGAGGAACACATCAGACCCAACAAGCAGGGGTCAGTGGAGATGTGAAAACACAGTTGTCAAGTGCCAATGAACTGGCAAGTTACCTTGATGAAGCTCAGAGGGGAAAGCACATCCATGAGGAAACTGCTCCACGAGTCATTAAAGGCAGCATCGGAAAGGAGGCTTATGATCCCAGAGTTCAATTCCTGCAAACTGACCATGCCAGCTCAGAGGCTTGGCCCCTGGCCTCCAGGCTACTTCCCCTGCCACAGATATTTGATACCATCTTCACGGACTTTCAAGGCCTGAGTTCTGATGGCCATGAGGTCTCCCTCCCCTGCCTGCTGATCTCCAGCCCCCTTTGCCGTTGCTGACCCGGGACCAGAGACATGGGACTGTCCCTGAAGCAGGCTGAAAGCTCCCAGCCTTCAGACTCCAGAGCGGAGGAGGGCAGGTCACAGTGCTTCCCACAGGGAAACCTGGGACTGGTCAGGGATGGGCGAAGGAGCCTGCAGATACCTACCCAATAACATATATGTCAAGATTGAGGTTCCGGTTGTTCAGCTGAAGCAGGTCACTGAGATCTAGAGGGGGCGCTGCCGAAGCCATGTTCCAAGTCACGACGTGTATGCTGCGGAAGGGATGCAGAGGGAAGTCATGGAGGAAGGAGGATAAGATAGTGCACGGGGTCGGCTGGGCGCAGAGGCTCACACGTTGTCATCACAGCACTTTGGGCGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCGACATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGATAGTGCACGGGGTCTAGGCCTGCTTATGTCACTGCAATCTGCCACACTCATGATGGGAAATGTGGGTTTCTGTGCTGGTGGAGGGAATGGGGATACTGAACCATCAGCTGTCCGTCCTCACCTTTCTCTGCTGAAGCAAGAAATCCCCACCCCGGACTGGGTCCTCCATGCTGGCTCACAGCCACCCACACCCGGCAGCACTGGTGCTGCTGATATAGCAGAGTCGCCAAAGGGAGCCCAAGAATTTCAGGTCAGGCTAGCGAAGGGTTAGGGGGCTGAACTGCCAGGAATGTATTAATTCCATCAGCTCCTCCAGCCACCCACACCCCTCTGTCATCATCTATGGCTCAGTCGGCAACTTCTGATCCCTACTTCTCACCCCAAGTGTTCCTAAGACCACCAGGAAGATCCTAGGGATTCAGATTTCACCTTGTGATAGGCCTCAGCACTACAAGGGCAGAGGAATTTAAAAAATAAAAGAGATAACACCACCATATTCCCTTCCTCTCTCCTCCCTAGCAGATCCCTGGAGCAAGCCAATTTTGCCAAGCACTTCAGCGAGACTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGGACTGGGATGATCTCGGCTCATCGCAGCCTCCGCCTCCCAGGTTCCAGCAGTTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGATCTCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAAGGAGTTTTTAAGTAACAGGTTTCTCGACATCTCTCTTAAGAGTCTATGCTCTATGTCTGCGTAGTATTCCGTGAAAAATAAAGAGTACTCTCTGGGGAAAAGTCATCAGTTGGATATTTTCCACCTCAGCTTACAAGTCTTAGGGAAGCAAGAAAACTAGATAAGGGGCCTCAATGACACTGGATCCAGTCAGAGGCTCAGGAAAGAGAGACCTACAGATGTCTTTAGTGGAACAGTCAGTCACAGCAGCTCTTCAAGAAGCCTCAGACTGTGCGGAGCACAGAGCGGGCAGGAGCTACAGACCCTGCAGAGACCAGGAACAGCCTAGCATGAGTCCTAGGCACACGATGAGGAGTACCTGCAGCAGCTGGAGATCTGGAATGGCAGAGGGTACAGGGGGATGGGAGAAAAGGGCAGTTAATGCCAAAACATCTCTCCTCCAACAGACCCCGTCCTTAGAGGTCGACGTTCTCAAAAGCACTTCAAGAAATTCTTGGCCAGTTTAAAGCAACTTCCTGTCCCTCCCTGTTAGCATAAACAACACTATACAGAAACCACCTTCCCAGGCACTCGGCCTGAGATTTTGAGCTTCATTTGTTTACGATCTCCCCCTGCTGTCCGACAGAGGCTTAAGGAACAAAGACCTTTTACTCAGAGACTTCTTTTCCCAGACTCACTCTAAGAGGATGGAGAGCAAAAGTCCGGATTTCTTGTTCCCACTCTCAAATCCGACGATTAGCAGCAAATCCAAGCATCGTGACTTAGACTAAGTGGGCGATTAGCGTTGTTCCCCG
Task1_train_23167
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?
Pathogenic; Retinal dystrophy
GTCCTGGGCTGGGTCCTTGCCCTCATACGGCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGC
GTCCTGGGCTGGGTCCTTGCCCTCATACGGCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATTCAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGC
Task1_train_23168
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?
Pathogenic; Retinal dystrophy
GGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCT
GGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGTAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCT
Task1_train_23169
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.
Pathogenic; not provided
GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCC
GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGACTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCC
Task1_train_23170
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.
Pathogenic; not provided
GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCC
GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGGCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCC
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?
Pathogenic; Retinal dystrophy
GCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCA
GCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCTTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCA
Task1_train_23172
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.
Pathogenic; Retinal dystrophy
CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCCGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
Task1_train_23173
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.
Pathogenic; Retinitis pigmentosa 13
CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCCGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
Task1_train_23174
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?
Pathogenic; Retinitis pigmentosa
CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCCGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCAC
Task1_train_23175
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?
Pathogenic; Retinal dystrophy
GTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGT
GTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGCGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGT
Task1_train_23176
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?
Pathogenic; not provided
CTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTG
CTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTATAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTG
Task1_train_23177
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?
Pathogenic; Retinal dystrophy
GCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGGGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTGTTTTTTTAGAC
GCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAGAGCCCCGCCCCGCCCTCACCGCCTCGGTCTCCTGGCCGCGCTGCCGCAGGTCGCGGTTGTGCGCCCGGAGTTCGTCCCGCTGTCGGTCCGTGACCTCCTTGAGCTGCCGCAGCAGCGCGCGCTCCTCTGAGGAAGGGGCGTTCTTAGCGGCGGCGGCGCGCGGCCCGCGGGAGGGAGGGGAGGACCCGAGCAGGTCGTCACCCGCCCTGCCCTGGCCGGGGCTGCGCTTACCCTGTGGCCCCGCGCGCAGCTCCCTGCGGAGGCGCTCGTTCTCCTCCCGCAGCCGCCGCAGCTCCTGCTCCGCCGGCTGCGCCGACACCTGCAGCTGGGGAGACCCGGGTCTCAGGCTTCGGCCCTGCCGGCCCCGTGGGTGGCGAAGGGAGGGCCATGACTCACCGAGTCCGGGGCGGGCCCCACGGCAGCCTGTTCCAAGAGCTCCAGCGCCCGCACCACTAGCGGCACCAGCCCGGCCGCCGCCTCCGGCCCGAAACGGCGCGCCAGATCCTGCAGCTCAGTGCCCAGGGCCCCGGCTAGATGGTACACAAGCTCCGCGGCCGATGCCGACCCCGCGGCCTCCCGAGACCCCCAGCCAGGCACCCCGGGCGCCGCCCTCCTGGGCTCCATGTCTCCCAGAGGCTTAGGGCTGCGACCCCCCCACCCCACCCTCCACTGGGACGGGGAAAAGCGAAACAGTTCCGCCCCAGGAAGCCGTTTAGGGCGGTGTGGGCGGGGTAGAAGCGATAAGGGTAGGGAGGAACGAGGAAGGGAGAAGGCGTGGGGTAGGGAGATAGTGCCCTAGGTCGCCTGGGCTCTGTCCTTTCCACCCCCAAGGTCACAGGAAACAAGACAGCCAACTTCCAGCCAGGCGTCCAAGAGCTGAGGTTCAGGGCTGCAAGTGGTCACTTGAGTGGAGCCCTCCCCACAGGCCCAATCCAGGCTCCGCCCGTTTGGAGTCATGGGGCCAACTTGGCAGTGGCCCGCTCCAGGCGAGAGGTGACAGGTAGGCAGCCGGTCTCTGGCCTCCGCCCGGCTGTACACAAACTGCCTGCCTGTGTGCTTGTTTTCCTGACCAGGACTGACACAGAAAGCTTAAAGGGCTGGGCTGGACACCGCAGCCGCTCAGCACAAGCCACAGAGTTCCTAGACCCGGGAAAGGGCAACTGCTCCCAAAACTGTGGAAAGGAGGCGAGAGCTTCCAAGTAGTTTTGTGGAAAAAGCAGCAAATGTGGTCAAGGCAGCGGAGTGTGAAAGCCCAGCCCTGCCTCAGGTCTCCACTGAGTCCAGGGGCTATCTACCCCAAAGCCCTGAATAGGAAGGGGGCCTCATACTCCCCCCTTCACAGCCGAGCCCAGCATCTTGCTGTGAACCGCTCCAGTCCAGCCTCCTGTTAGACCTAAATCCAGAATTTGAGTTTGGGGGGGAAAAAAAAAACAAACCAGCCCCTGAACTCCTATTTATACAAAATTTATTATTATATTTTATTCAGGATGACAAGCCATCAGGAGGTCAACAACACAAGCACAGACAGAGGGAAAGAGGCCAAACTGCTGAATGTCAGCGGCCTGTCTGGAGGGGCTGAGGCTTCGGCCTCGGGAGGCTGAAGCAGGAGGCAGGGAAACGGTCAGGCATACAGGTCCTCCCGATCCGCAGAGTAAACCTCCCCCTCCTGCAGGAGAGCAAAGTTGAGGAAGTGAGAGGGCCTGTGCACCTCGTGGTAGAACTCTTTGGAGTTCGCCAGCTGTAGCTCATATTTCATGTTGGGGTCATGCCGAACACCTTCGGGGAGAAGGAAACAGCCAATGTTAACAGGGCTCCTGCCTCATGCAGCCTGCGCCACCTCCAAGCCAGCCAGGCCCCAAGTGCAAAGGGCGATGGCCTCACCTTATCCCTACTGCTATCCCCACATCCCCAGGCTCCTCCCACTTACCCATGAAGTTGTAGTTCCACGAGGACTGGGCAGGGACCATGAAGAAGCCAAGGAAACGGTCCGACAGCAGCATCTGCACCCTCTCATAGTGTGAAGGCAGGTAGCCCTTGGGGTTGTTGCCCTTGTCTGTGTTCTGGCGGCCCCATTCGTAGCCACTGGGGGTCAGCTTGTAGGCCGTCAGTGTACAGGAGCCTGGCGTGAAGCTGGGGGAGGAACGAGGACAGAGTAACAGCTCAGGCCACTGTTCTGGGCCCTGGCCTGCAATCCCTGCCCCACCATACTTCCTCCCAAGGAGCCCAGGCCCACCTGCATGTGATGATAATGGTCTTCTCGCCATCCCAAGATGGGTTGTCAGCCATGATCTTGGCATGGGTGGTGACATCCTGGGGTGATAACTGCGGGGACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTGTTTTTTTAGAC
Task1_train_23178
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.
Pathogenic; Retinitis pigmentosa 13
GACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTGTTTTTTTAGACGGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAAGCTCCACCTCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAACCTCCCTAGTAGCTGCAACTACGGGCGCATGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCAGCCGAGTGTTGGGATTACAGGCATGAGCCAGCACGCACACCTGGTCAGGAATTTGTTTCTGACCATATCTGTTCTCTTCCAAATACTATCAGGCCAATACTACAATTACTACCTTCTCTCAGCTGCCACAGCTTTTGCTATCTCATGGGGCCAAAACCCACCTCGTTGTTTTGGCTATCCTTGTATAATTACTCATCCATGAATCTTGAAACCAGCATCTCAAGTTCCAGACAATCTCAGGTCTGAGTTTTAGGCACAAAATGAGTTGGGCACACACTGTGGCCTAGCTGAGTCCACTTACTCACTTGGGCCCGAAGGTCAGATATGCAGATGAACTTCTTAAGCACATTCTTGGGAAGGATGTAGGTGTAGCCAGTCTCCTTGATGTCGTCAGATGAAACATAGATGTGATTGGTCCTTAGGTGCAGGTTGGCAGCAGAGATGGCCCTAAAAACAGGCAGGGAGTGTCAGCATCGCTCAGCCCAGCACCTTAGGTAGTGCAGCCGGCCTTTCCATCCCCACCCTCTTGCCCGACAGTACCTGACCCTCCACTCAGTCTTGGATGAGAAAGTCTGGGTCTCATAGTTGCTGGTGGTGGAGGTGATGATCTCATCGCCATGCTTGTTGACAGTGCGAGTCTGTGTTGCCGTCAGCTGCGATTGTTCCTTGGTCTGCTTCTCGATCTCAGCGATCTGCTGCCGCTGCTGTGACGGTGCCGAGATCTCCATACCCAGGATGATGTCTCGAATTTCTGATTGTGTCAGTGATGCCACGTTCACACTGTGGGGATGGTGTGGGTTATATTACAAGGATCCCTTCCCCTTGGTCACTTCTGCCTCAATGGAAAGGGTGTAACTTGGTAGGACAGGACAGCCTATACTCACGCCCCAGACAATCCACAAGAGCTGCTTCTACAGGAAGTGTGAAACGGAGGTGCACTAACACTTCCAAGATTCGTCAGATCCAAGCGGGACAGCACACTGCGTGTGCACCTTCCCACTGTTTAGCATCCATAAACCCTACGCTTCCTTGACCAAAACAATGCTCTGGCATGGAACTGTTCTCAGAAATGGAAACCCCAGAAACCCTAGAATACTGGTTCTTAATCAGAGGTGGTATTGTCCGTCACCCTATGGATAATTTTGGTTGCCACGATGACAGGGAGGGAGACGAGGGGAGGAAGGTGTGTGTGTGTGTTGGCAGCAGTCTCGGATACTTAGGGTCTCGGATGTTCAAAATTCTTCCCATGTATGGACAGTAAAGAAATGCCCTGTTTGAAATGGCAACAGTGAGAAACAATGGCCAAGAGTCAGACTGAAGCCCTAAAACAGGGATGCTTCCCATACTATTCGAAGACACTGCTGTATCTCTCTTCCTCGAGACTCTGTAAGATAATTTCTTTCCTTGTTTTCAAGACAAGAGTCTCGCTCTGTTACCCAGGCTGGAGTACAGTGGCATCATCATGGCTCACTGCAGCCTCAAACCCCCGGGCTCAAGCAAGCCTCCTGCCTCAGCCTCCAAGAAGCTGGGACTACAAGCGTGTACCACCACACCTGTTTTAAATTTTTTTTTTTTGGTAGAGATGGCGTCAGTCTCTTGTTGATCAGGCTGGTTTCAACTCCTGGCTCATGCAATCCTCCCACCTTGGCCTCCCAAAGTGCTGGTATTACTAGCATGAGCACTCAAGCCTGGCTAAGACAAGATAATTTCTTGAGAAACGTCTTTTTTTTTTTTTTTTTTGGAGACAGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTAGGCGCCATCGCACCCGGCTAACTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGCCAGGATGGTTTCAAACTCCTGACCTCAAATGATCTACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTTCTTGAGAAACTTCTAAGCCTAAGTGCTTCCAAAAAACCCCAGAAAACCGTATATAGACCTCCTGTCTGTGTCCCCACCAGCACTGCTCACTTGTTTTTCTTGCCGTAGTCAGCCAAGATCAGATCCTTGAGCTGCACCTCGACCTTGATCCATTCTTCGTCAGTCAGAGTGGGCCAGATGTGGTGTGGTTCTGTAATAGTAGTCTTGTCTGGCTTCAGGATCACTTTTGCCCGATCGTTGTTCACATGTAGGGCACGCAGAATCAGGATGAGACGGGAGAAGGCCTGGGAAAAGATTTGGAAGAGTGGGGTAGGTCAGCTGCTTGAGGCTCTCCCACTTTAATCCT
GACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTACCAGGTCAGAGTTGGAGCTGCCAGCCCTCTGTTTCCTTCCTTCCCCCAAGAACGAGGACAGAGTTTCTTAAAACGTGATCAGAACCCCCTGTATCAGAATCAGCTGGGGTGCTTGTTCAAAATGTTAGACATGGACCTCATCGCGGACTTACCACATCAGAATCTCCTGAGTGGGGTCCAGGAATCTGCACTGCTCACAAGCTCCCCAGCTGATTATTAAGCATAGTATTCACAAGCAAATGAGCACACATGCAGCTCAGTGTATTTTCACAAGCTGAAAACATCTGGAAAACCAGCACTTGGTGCTATTTTAAGTTTTACATTATCACCAAGAAAGAAAGAGGATCTGTTTACTATAAACTCACCCACACAGGATATTAACAATCTTTTCAAATTTGCCAACCTGACAGCCACTAAATAGTGGGTTTGAGATGGAGTCTCACTCTGTCAGCAAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCGACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCCGCTAATTTTCATATATTTAAGAGAGACGGGGTTTCGCCACGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCCCAAAATGATGTTTTATAAACTATAATATCCCTGATACACTAGTAAAGTTATGCATCTTTTCTCTTTTTTGAAGCAGGGTATCACTCTGTCACCCAGGCTAGCAGGCAGTGACATGATCTCAGCTCACTACACTCACCACCCTCCAGGATCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTATGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTGTAGAGACTCCATTTCGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAAAGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCTGGAGTGCAGTGGGGTCATCAAAGCTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTACAGCCACGTTTTTTTTGGTTTTGTTTTTTTAGACGGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAAGCTCCACCTCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAACCTCCCTAGTAGCTGCAACTACGGGCGCATGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCAGCCGAGTGTTGGGATTACAGGCATGAGCCAGCACGCACACCTGGTCAGGAATTTGTTTCTGACCATATCTGTTCTCTTCCAAATACTATCAGGCCAATACTACAATTACTACCTTCTCTCAGCTGCCACAGCTTTTGCTATCTCATGGGGCCAAAACCCACCTCGTTGTTTTGGCTATCCTTGTATAATTACTCATCCATGAATCTTGAAACCAGCATCTCAAGTTCCAGACAATCTCAGGTCTGAGTTTTAGGCACAAAATGAGTTGGGCACACACTGTGGCCTAGCTGAGTCCACTTACTCACTTGGGCCCGAAGGTCAAATATGCAGATGAACTTCTTAAGCACATTCTTGGGAAGGATGTAGGTGTAGCCAGTCTCCTTGATGTCGTCAGATGAAACATAGATGTGATTGGTCCTTAGGTGCAGGTTGGCAGCAGAGATGGCCCTAAAAACAGGCAGGGAGTGTCAGCATCGCTCAGCCCAGCACCTTAGGTAGTGCAGCCGGCCTTTCCATCCCCACCCTCTTGCCCGACAGTACCTGACCCTCCACTCAGTCTTGGATGAGAAAGTCTGGGTCTCATAGTTGCTGGTGGTGGAGGTGATGATCTCATCGCCATGCTTGTTGACAGTGCGAGTCTGTGTTGCCGTCAGCTGCGATTGTTCCTTGGTCTGCTTCTCGATCTCAGCGATCTGCTGCCGCTGCTGTGACGGTGCCGAGATCTCCATACCCAGGATGATGTCTCGAATTTCTGATTGTGTCAGTGATGCCACGTTCACACTGTGGGGATGGTGTGGGTTATATTACAAGGATCCCTTCCCCTTGGTCACTTCTGCCTCAATGGAAAGGGTGTAACTTGGTAGGACAGGACAGCCTATACTCACGCCCCAGACAATCCACAAGAGCTGCTTCTACAGGAAGTGTGAAACGGAGGTGCACTAACACTTCCAAGATTCGTCAGATCCAAGCGGGACAGCACACTGCGTGTGCACCTTCCCACTGTTTAGCATCCATAAACCCTACGCTTCCTTGACCAAAACAATGCTCTGGCATGGAACTGTTCTCAGAAATGGAAACCCCAGAAACCCTAGAATACTGGTTCTTAATCAGAGGTGGTATTGTCCGTCACCCTATGGATAATTTTGGTTGCCACGATGACAGGGAGGGAGACGAGGGGAGGAAGGTGTGTGTGTGTGTTGGCAGCAGTCTCGGATACTTAGGGTCTCGGATGTTCAAAATTCTTCCCATGTATGGACAGTAAAGAAATGCCCTGTTTGAAATGGCAACAGTGAGAAACAATGGCCAAGAGTCAGACTGAAGCCCTAAAACAGGGATGCTTCCCATACTATTCGAAGACACTGCTGTATCTCTCTTCCTCGAGACTCTGTAAGATAATTTCTTTCCTTGTTTTCAAGACAAGAGTCTCGCTCTGTTACCCAGGCTGGAGTACAGTGGCATCATCATGGCTCACTGCAGCCTCAAACCCCCGGGCTCAAGCAAGCCTCCTGCCTCAGCCTCCAAGAAGCTGGGACTACAAGCGTGTACCACCACACCTGTTTTAAATTTTTTTTTTTTGGTAGAGATGGCGTCAGTCTCTTGTTGATCAGGCTGGTTTCAACTCCTGGCTCATGCAATCCTCCCACCTTGGCCTCCCAAAGTGCTGGTATTACTAGCATGAGCACTCAAGCCTGGCTAAGACAAGATAATTTCTTGAGAAACGTCTTTTTTTTTTTTTTTTTTGGAGACAGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTAGGCGCCATCGCACCCGGCTAACTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGCCAGGATGGTTTCAAACTCCTGACCTCAAATGATCTACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTTCTTGAGAAACTTCTAAGCCTAAGTGCTTCCAAAAAACCCCAGAAAACCGTATATAGACCTCCTGTCTGTGTCCCCACCAGCACTGCTCACTTGTTTTTCTTGCCGTAGTCAGCCAAGATCAGATCCTTGAGCTGCACCTCGACCTTGATCCATTCTTCGTCAGTCAGAGTGGGCCAGATGTGGTGTGGTTCTGTAATAGTAGTCTTGTCTGGCTTCAGGATCACTTTTGCCCGATCGTTGTTCACATGTAGGGCACGCAGAATCAGGATGAGACGGGAGAAGGCCTGGGAAAAGATTTGGAAGAGTGGGGTAGGTCAGCTGCTTGAGGCTCTCCCACTTTAATCCT
Task1_train_23179
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.
Pathogenic; Alpha-2-plasmin inhibitor deficiency
AGATGAGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCCCATGCCCGGCCACACTGCTAGAAACTTTAAAAGCATCTCATTCGGTTACGTGTCCGCCTGCAGTGGGACAGGTAGTATGACTCCACCCCACTGTGAGGAAGTGGAGGAGCAGTGGGGTCAGTCACACGCCTGGCAGGATGGCCAGGAGCCCCATTGTCTGCCTTAGGAGCACCTGCTGGCCCCACCCCCACTTAGCTTCGGGGCTTTCTGTCCTCATGCTCTTCCCTTCCCTTTTCTGTAGGTGGCTCATTTCCCCTTTAAGAACAACATGAGCTTTGTGGTCCTTGTACCCACCCACTTTGAATGGAACGTGTCCCAGGTACTGGCCAACCTGAGTTGGGACACCCTGCACCCACCTCTGGTGTGGGAGAGGCCCACCAAGGTCCGGCTGCCTAAGCTGTATCTGAAACACCAAATGGACCTGGTGGCCACCCTCAGCCAGCTGGGTAAGGAGGAGGGTGCGGGCGAGCCCCCGAGGTCAGGCTGGGCAGGGCGGGTAAGGAGGAAGCGTCTGGCTGGCAGTGGAGCTGAGTCAGAGCTGTCCTGTGTCCTGCTCTTTTCCAGGGCTTCGGGAGCGGGGAGAGGGTTGAATATGAGCCCCCAGACCCTCTGTCCTAGAGGAAGTTGGGGTGGCCCGGGGAATGGGGCTCTGCTTTGCTGCCCAAGACCTCGCATTGCAAGGAGAGTCTGGGTAGAGAGCCTGGGATGGCATGTGAGCCTCGCTGGCTTCCCTGGAAGGGGAAGGAGGAGAAGCTGGGGTGTCACACTGTTAAAGAAATGCTGGGTGGAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAAGCTGAAGTGGGTGGATTGCTTGAGCCCGGGAGTCCGACACCAGCCTGTGCAACACATTGAAACTCCGTCCCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGCATGCTACTGGGGAGGTTGAGGTGGGAGGCCCTCTTGACCCCAGGTGGCTGAGGCTGCAGTGAGCCATAATTGTGCCACTGCACTCCAGCCTCAGCAAAAGAACTAAGACCTTGTCTCAAAAATAAAAATAAAGGCCGGGCATGGTGGCTCACGTCTGTAATCCTAGCACTTTGGGAGGCCAAAGAGGGTGGATCACCTGAGGTCATGAGTTTGAGACCAGCCTGGCCAACATGGCCAAACCCGTCTCCACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGAGGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGATGACAGAGTGAGACTCCATCTCAAAAAAAAATTATAATAACTAAAATAAATAAATAAAGCATCTATCCTTCAGCCATTTGCTAAGCAGCTGCTGTATTCCAGGCACTGTACCAGGTACCGGGAGCCCACCATGTACAAACAGCTGAGTCTAATGGGGTGGGCAGACGAGCAATCACATACTTACTACAGCATAAGCGATAAGACAGAGAGGGCTTCTCTCCAGCTCACCTGGGAGAACACTGAAAATGTACCTTGGTTGGACTTTAGAGCTGGGGATCAGGGAAGGCTTCCTGGAGGAGGTGGTGTTTAAGCTGAGTCTTGGAAACCGGATAGGAATGAAGCAGGTATCTGTGAGTTCAAGCTGTTCCCTGGCCAGGATCTCAGACACCCTCCCAAGCAGCTCCAGGAGCCTGTGAGGCCAAGGGCAGCTCTGACCAGCCATCTCTGGCCCTGGGCAGGCCTGCAGGAGTTGTTCCAGGCCCCAGACCTGCGTGGGATCTCCGAGCAGAGCCTGGTGGTGTCCGGCGTGCAGCATCAGTCCACCCTGGAGCTCAGCGAGGTCGGCGTGGAGGCGGCGGCGGCCACCAGCATTGCCATGTCCCGCATGTCCCTGTCCTCCTTCAGCGTGAACCGCCCCTTCCTCTTCTTCATCTTCGAGGACACCACAGGCCTTCCCCTCTTCGTGGGCAGCGTGAGGAACCCCAACCCCAGTGCACCGCGGGAGCTCAAGGAACAGCAGGATTCCCCGGGCAACAAGGACTTCCTCCAGAGCCTGAAAGGCTTCCCCCGCGGAGACAAGCTTTTCGGCCCTGACTTAAAACTTGTGCCCCCCATGGAGGAGGATTACCCCCAGTTTGGCAGCCCCAAGTGAGGGGCCGTGGCTGTGGCATCCAGAGTCCCTGCCTGGACCAGCCTCTCCACTCATGTGACTCTTTCCAACCGGCTTTGTGGCACTGGGGCAGGGGCCGGGGGCAGTCTGAGAGAGGCCATTCTTTCCCAACACCTCTTGGGGAGTTTAGGGTGGGGGGGGGGCGCGGCTGGGAGGAGGGCAGGCATCGGGGAGCCGGGAGCCTGACCCTCATCTTTCTTCCAAACAGGCTCAGAGGGTGTCCTGCACCGGGGCCTGGGCAGGAGGGAGGTGCTTCTAGTTCTGCCAGGAGACAGGTTAGCTGCTCCCCACGTCAGCTGGGACACCCCGACTTTTGTTTACCAGAGAAAAAGGGAGGGGGAGAGGGCTGCCTTTGGACTTGTCCCGGGACACCTAGGCTAGGGTGGGGAGAGACGGGCCCTGGTGGTGGCTCGGGAGGCGAAGCGTTGTCCTCAGCCCCGCGTGGAACTCGTGTCTGGCACAGCCTGGCTGTGGCCTAACCTGCCGAGAGTCCATCAGCCTCCATCCTACCCCCTGTGCCTTGTCACGCCAGACTTCCCACGGCTCCTCGAGATCCCAACACTGCCAGCATTTCCCTTCCTTCCTCTCCTGTCTCCCTCCTCTGCCCGGGAGCTCAGGAACCGAGGCAGGGAAGGATCCCATGAGCTCCTTAAGGCTCTTTTGTAAGGTTTTTGTAGTGATTTTTATGCCACCTGAATAAAGAATGAATGGGCCTGGCTGGTTTGATGTCACCGTTCTGGGCATGGGTGGGGACAAGTGAGGATGGTGGGGAAGGCAGGGAGGCGGCCGCAGGGTGGACTGTGCTGAGGAACCCTGGGCCCAGCAGGGGTGGCAGCCCGCGCAGTGCCACGTTTGGCCTCTGGCCGCTCGCCAGGCATCCTCCACCCCGTGGTCCCCTCTGACCTCGCCAGCCCTCCCCCGGGACACCTCCACGCCAGCCTGGCTCTGCTCCTGGCTTCTTCTTCTCTCTATGCCTCAGGCAGCCGGCAACAGGGCGGCTCAGAACAGCGCCAGCCTCCTGGTTTGGGAGAAGAACTGGCAATTAGGGAGTTTGTGGAGCTTCTAATTACACACCAGCCCCTCTGCCAGGAGCTGGTGCCCGCCAGCCGGGGGCAGGCTGCCGGGAGTACCCAGCTCCAGCTGGAGACAGTCAGTGCCTGAGGATTTGGGGGAAGCAGGTGGGGAAACCTTGGCACAGGGCTGACACCTTCCTCTGTGCCAGAGCCCAGGAGCTGGGGCAGCGTGGGTGACCATGTGGGTGGGCACGCTTCCCTGCTGGAGGTGCAGGGGGTCCACGTGGCAGCGGCCACCTGGAGCCCTAATGTGCAGCGGTTAAGAGCAAGCCCCTGGAAGTCAGAGAGGCCTGGCATGGAGTCTTGCTTCTTGCAAACGAGCCGTGTGGAGAGAGAGATAGTAAATCAACAAAGGGAAATACATGGTCTGTCCGAGGATGAGCTGCCGGAGAGCAATGGTGAAAGTGAAGTGGGGGAGGGGGCGGGGCTGGGAGGAAAAGCCTTGTGAGAAGGTGACACGAGAGCACGGCCTTGAAGGGGAAGAAGGAGGGCACTATGGAGGTCCCGGCGAAGCGTGGCCTGGCCGAGGAACGGCATGTGCAGAGGTCCTGCCGAGGAGCTCAAGACAAGTAGGGGACGGTGGGGCTGGAGTGGAGAGAGTGAGTGGGAGGAGGAGTAGGAGTCAGAGAGGAGCTCAGGACAGATCCTTTAGGCTCTAGGGACACGATAAACACAGTGTTTTTTGTCTTGTCAAGTGTGTCCTTTTTATTT
AGATGAGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCCCATGCCCGGCCACACTGCTAGAAACTTTAAAAGCATCTCATTCGGTTACGTGTCCGCCTGCAGTGGGACAGGTAGTATGACTCCACCCCACTGTGAGGAAGTGGAGGAGCAGTGGGGTCAGTCACACGCCTGGCAGGATGGCCAGGAGCCCCATTGTCTGCCTTAGGAGCACCTGCTGGCCCCACCCCCACTTAGCTTCGGGGCTTTCTGTCCTCATGCTCTTCCCTTCCCTTTTCTGTAGGTGGCTCATTTCCCCTTTAAGAACAACATGAGCTTTGTGGTCCTTGTACCCACCCACTTTGAATGGAACGTGTCCCAGGTACTGGCCAACCTGAGTTGGGACACCCTGCACCCACCTCTGGTGTGGGAGAGGCCCACCAAGGTCCGGCTGCCTAAGCTGTATCTGAAACACCAAATGGACCTGGTGGCCACCCTCAGCCAGCTGGGTAAGGAGGAGGGTGCGGGCGAGCCCCCGAGGTCAGGCTGGGCAGGGCGGGTAAGGAGGAAGCGTCTGGCTGGCAGTGGAGCTGAGTCAGAGCTGTCCTGTGTCCTGCTCTTTTCCAGGGCTTCGGGAGCGGGGAGAGGGTTGAATATGAGCCCCCAGACCCTCTGTCCTAGAGGAAGTTGGGGTGGCCCGGGGAATGGGGCTCTGCTTTGCTGCCCAAGACCTCGCATTGCAAGGAGAGTCTGGGTAGAGAGCCTGGGATGGCATGTGAGCCTCGCTGGCTTCCCTGGAAGGGGAAGGAGGAGAAGCTGGGGTGTCACACTGTTAAAGAAATGCTGGGTGGAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAAGCTGAAGTGGGTGGATTGCTTGAGCCCGGGAGTCCGACACCAGCCTGTGCAACACATTGAAACTCCGTCCCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGCATGCTACTGGGGAGGTTGAGGTGGGAGGCCCTCTTGACCCCAGGTGGCTGAGGCTGCAGTGAGCCATAATTGTGCCACTGCACTCCAGCCTCAGCAAAAGAACTAAGACCTTGTCTCAAAAATAAAAATAAAGGCCGGGCATGGTGGCTCACGTCTGTAATCCTAGCACTTTGGGAGGCCAAAGAGGGTGGATCACCTGAGGTCATGAGTTTGAGACCAGCCTGGCCAACATGGCCAAACCCGTCTCCACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGAGGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGATGACAGAGTGAGACTCCATCTCAAAAAAAAATTATAATAACTAAAATAAATAAATAAAGCATCTATCCTTCAGCCATTTGCTAAGCAGCTGCTGTATTCCAGGCACTGTACCAGGTACCGGGAGCCCACCATGTACAAACAGCTGAGTCTAATGGGGTGGGCAGACGAGCAATCACATACTTACTACAGCATAAGCGATAAGACAGAGAGGGCTTCTCTCCAGCTCACCTGGGAGAACACTGAAAATGTACCTTGGTTGGACTTTAGAGCTGGGGATCAGGGAAGGCTTCCTGGAGGAGGTGGTGTTTAAGCTGAGTCTTGGAAACCGGATAGGAATGAAGCAGGTATCTGTGAGTTCAAGCTGTTCCCTGGCCAGGATCTCAGACACCCTCCCAAGCAGCTCCAGGAGCCTGTGAGGCCAAGGGCAGCTCTGACCAGCCATCTCTGGCCCTGGGCAGGCCTGCAGGAGTTGTTCCAGGCCCCAGACCTGCGTGGGATCTCCGAGCAGAGCCTGGTGGTGTCCGGCGTGCAGCATCAGTCCACCCTGGAGCTCAGCGAGGTCGGCGTGGAGGCGGCGGCGGCCACCAGCATTGCCATGTCCCGCATGTCCCTGTCCTCCTTCAGCATGAACCGCCCCTTCCTCTTCTTCATCTTCGAGGACACCACAGGCCTTCCCCTCTTCGTGGGCAGCGTGAGGAACCCCAACCCCAGTGCACCGCGGGAGCTCAAGGAACAGCAGGATTCCCCGGGCAACAAGGACTTCCTCCAGAGCCTGAAAGGCTTCCCCCGCGGAGACAAGCTTTTCGGCCCTGACTTAAAACTTGTGCCCCCCATGGAGGAGGATTACCCCCAGTTTGGCAGCCCCAAGTGAGGGGCCGTGGCTGTGGCATCCAGAGTCCCTGCCTGGACCAGCCTCTCCACTCATGTGACTCTTTCCAACCGGCTTTGTGGCACTGGGGCAGGGGCCGGGGGCAGTCTGAGAGAGGCCATTCTTTCCCAACACCTCTTGGGGAGTTTAGGGTGGGGGGGGGGCGCGGCTGGGAGGAGGGCAGGCATCGGGGAGCCGGGAGCCTGACCCTCATCTTTCTTCCAAACAGGCTCAGAGGGTGTCCTGCACCGGGGCCTGGGCAGGAGGGAGGTGCTTCTAGTTCTGCCAGGAGACAGGTTAGCTGCTCCCCACGTCAGCTGGGACACCCCGACTTTTGTTTACCAGAGAAAAAGGGAGGGGGAGAGGGCTGCCTTTGGACTTGTCCCGGGACACCTAGGCTAGGGTGGGGAGAGACGGGCCCTGGTGGTGGCTCGGGAGGCGAAGCGTTGTCCTCAGCCCCGCGTGGAACTCGTGTCTGGCACAGCCTGGCTGTGGCCTAACCTGCCGAGAGTCCATCAGCCTCCATCCTACCCCCTGTGCCTTGTCACGCCAGACTTCCCACGGCTCCTCGAGATCCCAACACTGCCAGCATTTCCCTTCCTTCCTCTCCTGTCTCCCTCCTCTGCCCGGGAGCTCAGGAACCGAGGCAGGGAAGGATCCCATGAGCTCCTTAAGGCTCTTTTGTAAGGTTTTTGTAGTGATTTTTATGCCACCTGAATAAAGAATGAATGGGCCTGGCTGGTTTGATGTCACCGTTCTGGGCATGGGTGGGGACAAGTGAGGATGGTGGGGAAGGCAGGGAGGCGGCCGCAGGGTGGACTGTGCTGAGGAACCCTGGGCCCAGCAGGGGTGGCAGCCCGCGCAGTGCCACGTTTGGCCTCTGGCCGCTCGCCAGGCATCCTCCACCCCGTGGTCCCCTCTGACCTCGCCAGCCCTCCCCCGGGACACCTCCACGCCAGCCTGGCTCTGCTCCTGGCTTCTTCTTCTCTCTATGCCTCAGGCAGCCGGCAACAGGGCGGCTCAGAACAGCGCCAGCCTCCTGGTTTGGGAGAAGAACTGGCAATTAGGGAGTTTGTGGAGCTTCTAATTACACACCAGCCCCTCTGCCAGGAGCTGGTGCCCGCCAGCCGGGGGCAGGCTGCCGGGAGTACCCAGCTCCAGCTGGAGACAGTCAGTGCCTGAGGATTTGGGGGAAGCAGGTGGGGAAACCTTGGCACAGGGCTGACACCTTCCTCTGTGCCAGAGCCCAGGAGCTGGGGCAGCGTGGGTGACCATGTGGGTGGGCACGCTTCCCTGCTGGAGGTGCAGGGGGTCCACGTGGCAGCGGCCACCTGGAGCCCTAATGTGCAGCGGTTAAGAGCAAGCCCCTGGAAGTCAGAGAGGCCTGGCATGGAGTCTTGCTTCTTGCAAACGAGCCGTGTGGAGAGAGAGATAGTAAATCAACAAAGGGAAATACATGGTCTGTCCGAGGATGAGCTGCCGGAGAGCAATGGTGAAAGTGAAGTGGGGGAGGGGGCGGGGCTGGGAGGAAAAGCCTTGTGAGAAGGTGACACGAGAGCACGGCCTTGAAGGGGAAGAAGGAGGGCACTATGGAGGTCCCGGCGAAGCGTGGCCTGGCCGAGGAACGGCATGTGCAGAGGTCCTGCCGAGGAGCTCAAGACAAGTAGGGGACGGTGGGGCTGGAGTGGAGAGAGTGAGTGGGAGGAGGAGTAGGAGTCAGAGAGGAGCTCAGGACAGATCCTTTAGGCTCTAGGGACACGATAAACACAGTGTTTTTTGTCTTGTCAAGTGTGTCCTTTTTATTT
Task1_train_23180
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.
Pathogenic; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
TGACTAGTGCCTTGCCATCAGTTTTACCAGTTACAAAAGTTGATTTTCTTTTTCTCACCCATTATCTTGCCCGTTGAGGCAAGAGAAGTGTTTAAGAGGGCGGCCTTCAGAAACAGCAGTGTCTGGATTCGTCACCATTATTACTTTGACCTCGGGGCTGACATCAGCAAACATAGCAGTGAGCTGCTGTGTGCGCAGCCTTCATCCTAGATTGCTTTTGTAGCCTCCAGCCTCAGTCTCTATTTGATCTGCGTATCTCTTGCATATAAAAAGGAAAAGCTTTGCCTCTCATGTTATATGATTTCACTAGTGGCACCTCCAAAATTTAGAGTTATTGTAAAGCTTACTATAAAAAAGCTAAGTAGAATAGTAATAACTCCTTTTCGTTTGCGTTTGTTTTTAAAGGTTCTACTGTTTCTAAGGCTTATGGTGCTTCAAAGACATTTGGAAAAGCTGCAGGTCCCAGCCTGTCACACACTTCTGGGGGAACACAGTCCAAAGTGGTGCCCATTGCCAGCCTCACTCCTTACCAGTCCAAGTGAGTTGTTGCATAGAGTAAGTTCAGAGTGTACTTATGAAATCGGAGAAGCTATTATGGACTCTTGAGTTATTTATGCGTGAACTTCAGGGTCACCACCAAATACCACCAAATAGAATGGGTTTACTCTTTTTTTTTTTTTTTTTTGCTGAGGAGGAAAGGGGTACAAATTGTGGCAAACTTTTAACTCTTGTTGGAAAATATAGTAACAATAGCAATCTGCCATAGCCTGTGGGGTTTCATTCATTTTGAAAGAATTTGAAATTAAAAATACTTAATGCTTAATCAGTTGATAGTCTTATGAGTAAAAATAAATATTTCTGATAATTCAAAAGGCATTTAATCTTCTCCTATAAACAGGTGACTTCGTCTTTGGTTTAGTTGGCTAAAATAATCTGCACTATTTGTATTAAACACATGAACATACCCTGAACATAAATTTCTTTTATATGACTTTTTTCCACCAAAAATTAATTTGAAGCCGGGCGCGGTGGCTCATGCCCGTAATCCCCGCACTTTAGGAGGCTGAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCGTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTTGTGGAGCACGCCTGTAATCCCCGCTACTCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCCTTCCAGCCTGAGTAACAGAGTGAGATTCCGTCTCTCAAGATAAATAAACAAAATAAAGTAATTTGAATAGTTAAAAATTAGAGTTCTTTTTTCAGAATCCTTCCAGATATGTTTATATTTATTCTTCAATACTCTGTAACGTAGGAAAGATATTTTTCCCTGTGAAATTATAAGTGGGGTACCTAATGTGCCCTGTGCCTCCTTTTTCCATGCTTCTCTCTAAGGTCATGCTGCTTCAGTGTGTTCTTCCTGATGGTCCACCAACATCGTGTATTCTATTCAGGGTGTGTTACGAATGAGACAGAAGTGTAACACCAGTTATATCAGTTCCCATAATTGAAAACTGTGGCAAAATATAATTGCTGGTGTTACTGTATTTTCCAGCTTAGAACCTTTCATTAAGGGGATATGGTTGCCTTGGTGATGCTTTTTGGAGAAGGGAGAGAGTTTATAAATTTACTTATTTGACAGGAGAATGAGTTAGTATTAAATCACTTTGCATGTTTTACTATTTGCTTATTCTGTAAACTGTCAAACCCATGTGTCATCTTGGGGTTTTAATTAGCTGGATTAAAATACAGGTTGGAAAACGGAATATGCGTAAGACGAGAAAGGCTGTAGGAAGATGATTTCTTACTTGATCTTTTCCAAGGAAGACCCCATACACTAATATGATCGATTTGGTTTGTAGGTGGACCATTTGTGCTCGTGTTACCAACAAAAGTCAGATCCGTACCTGGAGCAACTCCCGAGGGGAAGGGAAGCTTTTCTCCCTAGAACTGGTTGACGAAAGTGTGAGTGTTTGTCATGCTGGGGAGTGAGGGCAGTGGGCTCGCCGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCTGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCCGAGAAACAGAAGGCTCAGCTCTGCGGGCCTATGAGGTGAAGAATAATAGTAGGCCAGAGAGAAGCATGATTGTTATTGTGCTTTTCCCTCTGTCATAGTCTTTTGATGCTGTCTGGAGTAGAGGGTTAAGGTCATAAATAAAATCTTTGATCTTAAATGACAGCGTTTGTAGCAGTAGAAAGTAGTTTTCTAAATATATAAGTAGCCTCCTGGGCAGGAGAAGCTGGAAACAGTCTGATTTGCTGGCAGGTGTACTGGAAGCACTGGGAGGTGATGCCTGCTTGTGAGCGCCGTGGAGCTTTGGGACACAGCAGAAGGCACACAGTTGTGACCTCGATATGGGAGTGGTTTTGTGGGAAATGGGTTCTGACTGTGCAGATTCTCTATTTGCTTTATTTAAACTAAACAAAACCATGACGATGAGACAAAATTCCTATGCCATGGAAGTACGACAGTCTTGATAGCTGTTAATCAGTCCATTCGTTTTGCTAATAATTCCTGAAATTGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAGGGTGCACAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTTTATACTAAAAATACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATCGCCTGAACCAAGGAGGTGGAGGTTGGAGCCAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAATAATAATAATTCCTAAAATGTACTTCAGCATTCTTTTCAAAGTGCTGCAGATTTCCTGTTTGTTCAGACTCCCAAATAGGGAGAAAAAAATAGATGTTTTTTTTGGAAGTTGATATAACACCCAAAATGTTTGTGTGATGGCAGAATCAATATTAGAACCTAATTTTTTTTTAGAAATTATTGCTCTAATGTATGGTGGTTGGCTAAAATTTCTTGTCCACTTGTAAATTTTGGCTGACAGAAAAGCAAAAGTGAAAATCAGATCACAAGCAACTTGCAAACATGACTTACTCTGACATTTTTGGCAATGGCTCCGAATGTGAAGTGGTTTGTCACTGAGAGGGCACTGTGGAGGGAGCCGGTGAATCACCCCGTGGCAGCACCTTCCTCGTGGGCTCTGGGCGTGTCCCTCAGTATTCAACTTTTTTTGTTTTTATTGTCAGAATAAATTAAACTCGTCATTGCCGTTTTGTTCTGTTCTGTTTCTCAGTTGAGGCTAATGCAGCATGATTATGGGATCGGCTAGCTGAAATTCTCATTCTTCAGCGGGGCCAGTGACTTCAGTGTGTGACTGTAAAATGCGGGTTCCTGGGATGTCCGTAGCCCTCTCTGGACCCTGTTTGTGCAAGGGCCACTGCTCTCAAGATGTCACTTTGGTGCTAGGGTGGCCTGTGTTCTATCCCAGTGTCACTTGGGTGCTGGGGTGGCCTGTGTTCAATCCCGCAGCCCTAACCTGCCCACGTGCTTCTGCAGGGTGAAATCCGAGCTACAGCTTTCAATGAGCAAGTGGACAAGTTCTTTCCTCTTATTGAAGTGAACAAGGTATGGCCGTGCTGACTTTAGAACTGACACCGCCTGGGGGTGGAGTGCGGATGAAAAGACGCTGGCCCAGGGGAGGGGTGTGTGGTGGCAGACTAGGGGTTTCTGTCCGATTTGATGGTAGTCTCAGGTTCTGTGGCTTGGCCTCCTTCGCAGGTGTATTATTTCTCGAAAGGCACCCTGAAGATTGCTAACAAGCAGTTCACAGCTGTTAAAAATGACTACGAGATGACCTTCAATAACGAGACTTCCGTCATGCCCTGTGAGGACGACCATCATTTACCTACGGTTCA
TGACTAGTGCCTTGCCATCAGTTTTACCAGTTACAAAAGTTGATTTTCTTTTTCTCACCCATTATCTTGCCCGTTGAGGCAAGAGAAGTGTTTAAGAGGGCGGCCTTCAGAAACAGCAGTGTCTGGATTCGTCACCATTATTACTTTGACCTCGGGGCTGACATCAGCAAACATAGCAGTGAGCTGCTGTGTGCGCAGCCTTCATCCTAGATTGCTTTTGTAGCCTCCAGCCTCAGTCTCTATTTGATCTGCGTATCTCTTGCATATAAAAAGGAAAAGCTTTGCCTCTCATGTTATATGATTTCACTAGTGGCACCTCCAAAATTTAGAGTTATTGTAAAGCTTACTATAAAAAAGCTAAGTAGAATAGTAATAACTCCTTTTCGTTTGCGTTTGTTTTTAAAGGTTCTACTGTTTCTAAGGCTTATGGTGCTTCAAAGACATTTGGAAAAGCTGCAGGTCCCAGCCTGTCACACACTTCTGGGGGAACACAGTCCAAAGTGGTGCCCATTGCCAGCCTCACTCCTTACCAGTCCAAGTGAGTTGTTGCATAGAGTAAGTTCAGAGTGTACTTATGAAATCGGAGAAGCTATTATGGACTCTTGAGTTATTTATGCGTGAACTTCAGGGTCACCACCAAATACCACCAAATAGAATGGGTTTACTCTTTTTTTTTTTTTTTTTTGCTGAGGAGGAAAGGGGTACAAATTGTGGCAAACTTTTAACTCTTGTTGGAAAATATAGTAACAATAGCAATCTGCCATAGCCTGTGGGGTTTCATTCATTTTGAAAGAATTTGAAATTAAAAATACTTAATGCTTAATCAGTTGATAGTCTTATGAGTAAAAATAAATATTTCTGATAATTCAAAAGGCATTTAATCTTCTCCTATAAACAGGTGACTTCGTCTTTGGTTTAGTTGGCTAAAATAATCTGCACTATTTGTATTAAACACATGAACATACCCTGAACATAAATTTCTTTTATATGACTTTTTTCCACCAAAAATTAATTTGAAGCCGGGCGCGGTGGCTCATGCCCGTAATCCCCGCACTTTAGGAGGCTGAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCGTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTTGTGGAGCACGCCTGTAATCCCCGCTACTCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCCTTCCAGCCTGAGTAACAGAGTGAGATTCCGTCTCTCAAGATAAATAAACAAAATAAAGTAATTTGAATAGTTAAAAATTAGAGTTCTTTTTTCAGAATCCTTCCAGATATGTTTATATTTATTCTTCAATACTCTGTAACGTAGGAAAGATATTTTTCCCTGTGAAATTATAAGTGGGGTACCTAATGTGCCCTGTGCCTCCTTTTTCCATGCTTCTCTCTAAGGTCATGCTGCTTCAGTGTGTTCTTCCTGATGGTCCACCAACATCGTGTATTCTATTCAGGGTGTGTTACGAATGAGACAGAAGTGTAACACCAGTTATATCAGTTCCCATAATTGAAAACTGTGGCAAAATATAATTGCTGGTGTTACTGTATTTTCCAGCTTAGAACCTTTCATTAAGGGGATATGGTTGCCTTGGTGATGCTTTTTGGAGAAGGGAGAGAGTTTATAAATTTACTTATTTGACAGGAGAATGAGTTAGTATTAAATCACTTTGCATGTTTTACTATTTGCTTATTCTGTAAACTGTCAAACCCATGTGTCATCTTGGGGTTTTAATTAGCTGGATTAAAATACAGGTTGGAAAACGGAATATGCGTAAGACGAGAAAGGCTGTAGGAAGATGATTTCTTACTTGATCTTTTCCAAGGAAGACCCCATACACTAATATGATCGATTTGGTTTGTAGGTGGACCATTTGTGCTCGTGTTACCAACAAAAGTCAGATCCGTACCTGGAGCAACTCCCGAGGGGAAGGGAAGCTTTTCTCCCTAGAACTGGCTGACGAAAGTGTGAGTGTTTGTCATGCTGGGGAGTGAGGGCAGTGGGCTCGCCGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCTGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCCGAGAAACAGAAGGCTCAGCTCTGCGGGCCTATGAGGTGAAGAATAATAGTAGGCCAGAGAGAAGCATGATTGTTATTGTGCTTTTCCCTCTGTCATAGTCTTTTGATGCTGTCTGGAGTAGAGGGTTAAGGTCATAAATAAAATCTTTGATCTTAAATGACAGCGTTTGTAGCAGTAGAAAGTAGTTTTCTAAATATATAAGTAGCCTCCTGGGCAGGAGAAGCTGGAAACAGTCTGATTTGCTGGCAGGTGTACTGGAAGCACTGGGAGGTGATGCCTGCTTGTGAGCGCCGTGGAGCTTTGGGACACAGCAGAAGGCACACAGTTGTGACCTCGATATGGGAGTGGTTTTGTGGGAAATGGGTTCTGACTGTGCAGATTCTCTATTTGCTTTATTTAAACTAAACAAAACCATGACGATGAGACAAAATTCCTATGCCATGGAAGTACGACAGTCTTGATAGCTGTTAATCAGTCCATTCGTTTTGCTAATAATTCCTGAAATTGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAGGGTGCACAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTTTATACTAAAAATACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATCGCCTGAACCAAGGAGGTGGAGGTTGGAGCCAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAATAATAATAATTCCTAAAATGTACTTCAGCATTCTTTTCAAAGTGCTGCAGATTTCCTGTTTGTTCAGACTCCCAAATAGGGAGAAAAAAATAGATGTTTTTTTTGGAAGTTGATATAACACCCAAAATGTTTGTGTGATGGCAGAATCAATATTAGAACCTAATTTTTTTTTAGAAATTATTGCTCTAATGTATGGTGGTTGGCTAAAATTTCTTGTCCACTTGTAAATTTTGGCTGACAGAAAAGCAAAAGTGAAAATCAGATCACAAGCAACTTGCAAACATGACTTACTCTGACATTTTTGGCAATGGCTCCGAATGTGAAGTGGTTTGTCACTGAGAGGGCACTGTGGAGGGAGCCGGTGAATCACCCCGTGGCAGCACCTTCCTCGTGGGCTCTGGGCGTGTCCCTCAGTATTCAACTTTTTTTGTTTTTATTGTCAGAATAAATTAAACTCGTCATTGCCGTTTTGTTCTGTTCTGTTTCTCAGTTGAGGCTAATGCAGCATGATTATGGGATCGGCTAGCTGAAATTCTCATTCTTCAGCGGGGCCAGTGACTTCAGTGTGTGACTGTAAAATGCGGGTTCCTGGGATGTCCGTAGCCCTCTCTGGACCCTGTTTGTGCAAGGGCCACTGCTCTCAAGATGTCACTTTGGTGCTAGGGTGGCCTGTGTTCTATCCCAGTGTCACTTGGGTGCTGGGGTGGCCTGTGTTCAATCCCGCAGCCCTAACCTGCCCACGTGCTTCTGCAGGGTGAAATCCGAGCTACAGCTTTCAATGAGCAAGTGGACAAGTTCTTTCCTCTTATTGAAGTGAACAAGGTATGGCCGTGCTGACTTTAGAACTGACACCGCCTGGGGGTGGAGTGCGGATGAAAAGACGCTGGCCCAGGGGAGGGGTGTGTGGTGGCAGACTAGGGGTTTCTGTCCGATTTGATGGTAGTCTCAGGTTCTGTGGCTTGGCCTCCTTCGCAGGTGTATTATTTCTCGAAAGGCACCCTGAAGATTGCTAACAAGCAGTTCACAGCTGTTAAAAATGACTACGAGATGACCTTCAATAACGAGACTTCCGTCATGCCCTGTGAGGACGACCATCATTTACCTACGGTTCA
Task1_train_23181
The gene RPA1 (replication protein A1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
TAAATTTACTTATTTGACAGGAGAATGAGTTAGTATTAAATCACTTTGCATGTTTTACTATTTGCTTATTCTGTAAACTGTCAAACCCATGTGTCATCTTGGGGTTTTAATTAGCTGGATTAAAATACAGGTTGGAAAACGGAATATGCGTAAGACGAGAAAGGCTGTAGGAAGATGATTTCTTACTTGATCTTTTCCAAGGAAGACCCCATACACTAATATGATCGATTTGGTTTGTAGGTGGACCATTTGTGCTCGTGTTACCAACAAAAGTCAGATCCGTACCTGGAGCAACTCCCGAGGGGAAGGGAAGCTTTTCTCCCTAGAACTGGTTGACGAAAGTGTGAGTGTTTGTCATGCTGGGGAGTGAGGGCAGTGGGCTCGCCGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCTGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCCGAGAAACAGAAGGCTCAGCTCTGCGGGCCTATGAGGTGAAGAATAATAGTAGGCCAGAGAGAAGCATGATTGTTATTGTGCTTTTCCCTCTGTCATAGTCTTTTGATGCTGTCTGGAGTAGAGGGTTAAGGTCATAAATAAAATCTTTGATCTTAAATGACAGCGTTTGTAGCAGTAGAAAGTAGTTTTCTAAATATATAAGTAGCCTCCTGGGCAGGAGAAGCTGGAAACAGTCTGATTTGCTGGCAGGTGTACTGGAAGCACTGGGAGGTGATGCCTGCTTGTGAGCGCCGTGGAGCTTTGGGACACAGCAGAAGGCACACAGTTGTGACCTCGATATGGGAGTGGTTTTGTGGGAAATGGGTTCTGACTGTGCAGATTCTCTATTTGCTTTATTTAAACTAAACAAAACCATGACGATGAGACAAAATTCCTATGCCATGGAAGTACGACAGTCTTGATAGCTGTTAATCAGTCCATTCGTTTTGCTAATAATTCCTGAAATTGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAGGGTGCACAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTTTATACTAAAAATACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATCGCCTGAACCAAGGAGGTGGAGGTTGGAGCCAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAATAATAATAATTCCTAAAATGTACTTCAGCATTCTTTTCAAAGTGCTGCAGATTTCCTGTTTGTTCAGACTCCCAAATAGGGAGAAAAAAATAGATGTTTTTTTTGGAAGTTGATATAACACCCAAAATGTTTGTGTGATGGCAGAATCAATATTAGAACCTAATTTTTTTTTAGAAATTATTGCTCTAATGTATGGTGGTTGGCTAAAATTTCTTGTCCACTTGTAAATTTTGGCTGACAGAAAAGCAAAAGTGAAAATCAGATCACAAGCAACTTGCAAACATGACTTACTCTGACATTTTTGGCAATGGCTCCGAATGTGAAGTGGTTTGTCACTGAGAGGGCACTGTGGAGGGAGCCGGTGAATCACCCCGTGGCAGCACCTTCCTCGTGGGCTCTGGGCGTGTCCCTCAGTATTCAACTTTTTTTGTTTTTATTGTCAGAATAAATTAAACTCGTCATTGCCGTTTTGTTCTGTTCTGTTTCTCAGTTGAGGCTAATGCAGCATGATTATGGGATCGGCTAGCTGAAATTCTCATTCTTCAGCGGGGCCAGTGACTTCAGTGTGTGACTGTAAAATGCGGGTTCCTGGGATGTCCGTAGCCCTCTCTGGACCCTGTTTGTGCAAGGGCCACTGCTCTCAAGATGTCACTTTGGTGCTAGGGTGGCCTGTGTTCTATCCCAGTGTCACTTGGGTGCTGGGGTGGCCTGTGTTCAATCCCGCAGCCCTAACCTGCCCACGTGCTTCTGCAGGGTGAAATCCGAGCTACAGCTTTCAATGAGCAAGTGGACAAGTTCTTTCCTCTTATTGAAGTGAACAAGGTATGGCCGTGCTGACTTTAGAACTGACACCGCCTGGGGGTGGAGTGCGGATGAAAAGACGCTGGCCCAGGGGAGGGGTGTGTGGTGGCAGACTAGGGGTTTCTGTCCGATTTGATGGTAGTCTCAGGTTCTGTGGCTTGGCCTCCTTCGCAGGTGTATTATTTCTCGAAAGGCACCCTGAAGATTGCTAACAAGCAGTTCACAGCTGTTAAAAATGACTACGAGATGACCTTCAATAACGAGACTTCCGTCATGCCCTGTGAGGACGACCATCATTTACCTACGGTTCAGTTTGATTTCACGGGGATTGATGACCTCGAGAACAAGTCGAAAGACTCACTTGTAGGTAAGCTCGTGTATGAGAAGGAAGAGCAGGGATGACTAGCTTTCTTTGCAGTGTACGGGGTGGTGTCAGGCTTCAGTGCTTGCCGTTCATCATTTGCTGGCGTCGGAATGGGAGTCTTGACCACCTCCTGCTAACACGTGCATGTGTTTTAGACATCATCGGGATCTGCAAGAGCTATGAAGACGCCACTAAAATCACAGTGAGGTCTAACAACAGAGAAGTTGCCAAGAGGAATATCTACTTGATGGACACATCCGGGAAGGTGGTGACTGCTACACTGTGGGGGGAAGATGTAAGTGCTGGGATGGGGTCTTCAACACGCACAGGACCTCCTGGGGTTGGGGCGTGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGTTGGGGGAGGGAGTGGTCTTATCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCAGGAGTTGGCGGAGGGGGCATCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGTTGAGGGAGGGAGGGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGCTGGCGGAGGGGGCGTCTGTTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGGGTTGGGGGAGGGAGGGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGGGTTGGCGGAGGGGGCGTCTTGTCCTATAGGATGGGGCTGTTAGCACACACAGGAGGAGCTCCTCGTGGGGGCGGTTTTGTCCTATGAGTTGGGGGCTTTCACCATGTAGATGGGAAGGATTGTGCTGTCTGGTAAGTATTTAAAATCCTTTATCTTACTTCTGTGAGATTTGCTGTGATTCAAGCTTTACGCGGGGAAATGCTCTTTCCCCTAACTCTAGGAAAGCAGTGATAGTTTTGATGTGTCTCTGAGTAGATTCTCATGTGTGAGGTCTGTCTTGTATGGATTCCATGTACGCTGATTACATTCACTCTACTATTGAATGTTTGCCTTGTTTTCTATAAAAATCTTCTGTGTTCTTCCTGCTAGTGACACTTGTATATGTCTGGTGTTTCTTTTACAGGCTGATAAATTTGATGGTTCTAGACAGCCCGTGTTGGCTATCAAAGGAGCCCGAGTCTCTGATTTCGGTGGACGGAGCCTCTCCGTGCTGTCTTCAAGCACTATCATTGCGAATCCTGACATCCCAGAGGCCTATAAGCTTCGTGGATGGTAGGTTTTGTGGGGCTAAACAAAGGGTTACTTGAGGCTGGGCTTTGAGAAAAGCTGGTTACAATCAGCATGGGAGCTTTCTGCCAAGCAGAAGCCTTCGTCCCTGAGTGGTGCAGCTTCCGTGTTTCTTGAAGGCATTATGCCTTCTGTGAGGAGGGCTTTAAAGCCCTTAAACGGACAAACCTGTAATCCCAGGACAAACCTAGAGAGTCGGAGGAGGCAATTAGCATGTAAGTGCTGCCTGCTGACCTCGATCCTGCCAAAGGAGGGGACGGCCAGGCTTCAGCAGCGGTGTGCTGAAGGCGCCTTTCTTTCCAGGGTTTAGGCTCTGGGCCTCTGTGGCGTGGGGGAACACATGCTTTCTTTCTCTGTCAAG
TAAATTTACTTATTTGACAGGAGAATGAGTTAGTATTAAATCACTTTGCATGTTTTACTATTTGCTTATTCTGTAAACTGTCAAACCCATGTGTCATCTTGGGGTTTTAATTAGCTGGATTAAAATACAGGTTGGAAAACGGAATATGCGTAAGACGAGAAAGGCTGTAGGAAGATGATTTCTTACTTGATCTTTTCCAAGGAAGACCCCATACACTAATATGATCGATTTGGTTTGTAGGTGGACCATTTGTGCTCGTGTTACCAACAAAAGTCAGATCCGTACCTGGAGCAACTCCCGAGGGGAAGGGAAGCTTTTCTCCCTAGAACTGGTTGACGAAAGTGTGAGTGTTTGTCATGCTGGGGAGTGAGGGCAGTGGGCTCGCCGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCTGGGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCCGAGAAACAGAAGGCTCAGCTCTGCGGGCCTATGAGGTGAAGAATAATAGTAGGCCAGAGAGAAGCATGATTGTTATTGTGCTTTTCCCTCTGTCATAGTCTTTTGATGCTGTCTGGAGTAGAGGGTTAAGGTCATAAATAAAATCTTTGATCTTAAATGACAGCGTTTGTAGCAGTAGAAAGTAGTTTTCTAAATATATAAGTAGCCTCCTGGGCAGGAGAAGCTGGAAACAGTCTGATTTGCTGGCAGGTGTACTGGAAGCACTGGGAGGTGATGCCTGCTTGTGAGCGCCGTGGAGCTTTGGGACACAGCAGAAGGCACACAGTTGTGACCTCGATATGGGAGTGGTTTTGTGGGAAATGGGTTCTGACTGTGCAGATTCTCTATTTGCTTTATTTAAACTAAACAAAACCATGACGATGAGACAAAATTCCTATGCCATGGAAGTACGACAGTCTTGATAGCTGTTAATCAGTCCATTCGTTTTGCTAATAATTCCTGAAATTGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAGGGTGCACAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTTTATACTAAAAATACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATCGCCTGAACCAAGGAGGTGGAGGTTGGAGCCAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAATAATAATAATTCCTAAAATGTACTTCAGCATTCTTTTCAAAGTGCTGCAGATTTCCTGTTTGTTCAGACTCCCAAATAGGGAGAAAAAAATAGATGTTTTTTTTGGAAGTTGATATAACACCCAAAATGTTTGTGTGATGGCAGAATCAATATTAGAACCTAATTTTTTTTTAGAAATTATTGCTCTAATGTATGGTGGTTGGCTAAAATTTCTTGTCCACTTGTAAATTTTGGCTGACAGAAAAGCAAAAGTGAAAATCAGATCACAAGCAACTTGCAAACATGACTTACTCTGACATTTTTGGCAATGGCTCCGAATGTGAAGTGGTTTGTCACTGAGAGGGCACTGTGGAGGGAGCCGGTGAATCACCCCGTGGCAGCACCTTCCTCGTGGGCTCTGGGCGTGTCCCTCAGTATTCAACTTTTTTTGTTTTTATTGTCAGAATAAATTAAACTCGTCATTGCCGTTTTGTTCTGTTCTGTTTCTCAGTTGAGGCTAATGCAGCATGATTATGGGATCGGCTAGCTGAAATTCTCATTCTTCAGCGGGGCCAGTGACTTCAGTGTGTGACTGTAAAATGCGGGTTCCTGGGATGTCCGTAGCCCTCTCTGGACCCTGTTTGTGCAAGGGCCACTGCTCTCAAGATGTCACTTTGGTGCTAGGGTGGCCTGTGTTCTATCCCAGTGTCACTTGGGTGCTGGGGTGGCCTGTGTTCAATCCCGCAGCCCTAACCTGCCCACGTGCTTCTGCAGGGTGAAATCCGAGCTACAGCTTTCAATAAGCAAGTGGACAAGTTCTTTCCTCTTATTGAAGTGAACAAGGTATGGCCGTGCTGACTTTAGAACTGACACCGCCTGGGGGTGGAGTGCGGATGAAAAGACGCTGGCCCAGGGGAGGGGTGTGTGGTGGCAGACTAGGGGTTTCTGTCCGATTTGATGGTAGTCTCAGGTTCTGTGGCTTGGCCTCCTTCGCAGGTGTATTATTTCTCGAAAGGCACCCTGAAGATTGCTAACAAGCAGTTCACAGCTGTTAAAAATGACTACGAGATGACCTTCAATAACGAGACTTCCGTCATGCCCTGTGAGGACGACCATCATTTACCTACGGTTCAGTTTGATTTCACGGGGATTGATGACCTCGAGAACAAGTCGAAAGACTCACTTGTAGGTAAGCTCGTGTATGAGAAGGAAGAGCAGGGATGACTAGCTTTCTTTGCAGTGTACGGGGTGGTGTCAGGCTTCAGTGCTTGCCGTTCATCATTTGCTGGCGTCGGAATGGGAGTCTTGACCACCTCCTGCTAACACGTGCATGTGTTTTAGACATCATCGGGATCTGCAAGAGCTATGAAGACGCCACTAAAATCACAGTGAGGTCTAACAACAGAGAAGTTGCCAAGAGGAATATCTACTTGATGGACACATCCGGGAAGGTGGTGACTGCTACACTGTGGGGGGAAGATGTAAGTGCTGGGATGGGGTCTTCAACACGCACAGGACCTCCTGGGGTTGGGGCGTGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGTTGGGGGAGGGAGTGGTCTTATCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCAGGAGTTGGCGGAGGGGGCATCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGTTGAGGGAGGGAGGGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGAGCTGGCGGAGGGGGCGTCTGTTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGGGTTGGGGGAGGGAGGGGTCTTGTCCTATAGGATGGGGCCTTCAGCACACACAGGAGGAGCTCCTGGGGTTGGCGGAGGGGGCGTCTTGTCCTATAGGATGGGGCTGTTAGCACACACAGGAGGAGCTCCTCGTGGGGGCGGTTTTGTCCTATGAGTTGGGGGCTTTCACCATGTAGATGGGAAGGATTGTGCTGTCTGGTAAGTATTTAAAATCCTTTATCTTACTTCTGTGAGATTTGCTGTGATTCAAGCTTTACGCGGGGAAATGCTCTTTCCCCTAACTCTAGGAAAGCAGTGATAGTTTTGATGTGTCTCTGAGTAGATTCTCATGTGTGAGGTCTGTCTTGTATGGATTCCATGTACGCTGATTACATTCACTCTACTATTGAATGTTTGCCTTGTTTTCTATAAAAATCTTCTGTGTTCTTCCTGCTAGTGACACTTGTATATGTCTGGTGTTTCTTTTACAGGCTGATAAATTTGATGGTTCTAGACAGCCCGTGTTGGCTATCAAAGGAGCCCGAGTCTCTGATTTCGGTGGACGGAGCCTCTCCGTGCTGTCTTCAAGCACTATCATTGCGAATCCTGACATCCCAGAGGCCTATAAGCTTCGTGGATGGTAGGTTTTGTGGGGCTAAACAAAGGGTTACTTGAGGCTGGGCTTTGAGAAAAGCTGGTTACAATCAGCATGGGAGCTTTCTGCCAAGCAGAAGCCTTCGTCCCTGAGTGGTGCAGCTTCCGTGTTTCTTGAAGGCATTATGCCTTCTGTGAGGAGGGCTTTAAAGCCCTTAAACGGACAAACCTGTAATCCCAGGACAAACCTAGAGAGTCGGAGGAGGCAATTAGCATGTAAGTGCTGCCTGCTGACCTCGATCCTGCCAAAGGAGGGGACGGCCAGGCTTCAGCAGCGGTGTGCTGAAGGCGCCTTTCTTTCCAGGGTTTAGGCTCTGGGCCTCTGTGGCGTGGGGGAACACATGCTTTCTTTCTCTGTCAAG
Task1_train_23182
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?
Pathogenic; Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
CCTGCTGCCACCCTCCCTCCCCTGCTCCCCCAAACCTCTCTTCTCCCCCCTTCCCCTCCCCTGCTCCCCCTCTCTCCCCTCCCCTTCCCCCTCCCCTGCTCCCCCTCCCCTCCCCTGCTCCCCATCCCCCTCCCCAGTTTCCCCATCCCCTCCCCTGCTGCCCCATTCCCCTCCCCTACTCCCCCTTCCCCCTCCCCTGCTCCCCCCTCCCCTGCTGCCCCCTCCCCTCCTCCCCCACTCCCCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCTCCCTCCCCTGCTGCCCCATCTTGTTGCCACAGACTCACTTCCCTGCTCCCACCGTCTTGCCCCTTGGGGATGCTCTCTGGGGCTCAGGCCAATTTGCATACATTTTAATCTATAAAAAATTAAGTGCTGTGGCTGACTTAGACGCCTGGGCTGCATTCTAAGGAGGTGAATAATCTGCTTCTGGGCACAGCCTGATTTGGGGAAGGGGGTGGAGGAGGGGGTGACTAGCAGGAGCTCAACTCTTCCACTGCCACACCCCCAGGGGAAGGATGGGGGGACCCCAGTCACTGAGCCAGGCTCCACGCCCCAAGTGTGAGTCTCTTTCAAGGAAGAGGGGGTTCTCCTCCATTCCTAGGGTGAGTTCAGGGGTACAAGGTCTTCCCCACCCACCCCCTCCCCCAGTGATTCAGGCCTGGCAGCAGTTCCCACGGCAGTGTTCTGGCCAGAGCCTCCTCTTCCTGATGCAGGAGGCGTGTAGGTGGTGCCATGTGCTATGGGGGAGCTGTGCCTGGGTCCCCCCATCCTGGGCACCAAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGGAGTGGGGGTCCCGGCAAGAGGGAGGCTGTGTGTATTCATACAGCCACGCCCATGCCCACCACAGCACTCAGCGCGGGAGTGAGGACCTTTGGGTGTGTGTGCGTGCTCACGGCTCTGGGTGGGTGAGTCAGGGCATGGGGCGTCTGTGTTTTGACCCCACGTGTGCCGGAGTGAGGGTTGGGGTCCCTCCTGCAGCCTGAGCCTGGGTAGAGGAATGAGGGTCCTCACGCAGCAACAGTTCCAGGAGCGGCTGCCAGGCTGGGGCAGGCGGCAGCTGTGCCCCTCCTAATCTTTGTTGGCAGAAGTGGCAGCTGCCATCCCGAGGAACTGGGAGAGGTAGGGAGAGAGGAGCTGGGCCCTGAGACACCCTCCCAGGGTTGGGTCTCTCCTACCTCAGTCCCTGTGTCCCTGTCCCACCGTTCCCCGCCCCTGTGCCCGCAGGTTCACGGAGGCCGAAGTGATGGTGATGGGTGACGTGACCTACGGGGCTTGCTGTGTGGATGACTTCACAGCGAGGGCCCTGGGAGCTGACTTCTTGGTGCACTACGGCCACAGTTGCCTGAGTATGGTGGGGCCAGGACACCTGGACGGTGGCGGGGCTGGCAGGGAGGCAGGCTGCACATTCATCTTCCCCATGGCAGTGCCTTCTTGTCCTGCTTGGAGACACAAGGTCCCTCCTGGTTTCTGGGGTGGCCTCTGCCTTCCCGCTCTGCAGGTAGATCTTTCCTTTGGATTTGGTTGCCTTGGCAACGGTGCTCTGTCCCAGATGCAGGTGTTTGAAAGGCTGTTGGTTGTAGAGCAGGCTGGGCCCCGGCCGGGTGACAGAGAAGTCTGATTGAGAAGGAGCTTCTAGGGGATCTGTGACCCCCCTCTTCTCCTACCCTGTCCTTTTACCCCCAGGCTGAAGCCACTGCGCCTGGCTGCTCAGAGACCTGAGCCTGGCCGGGCCCTCTGCTGCTCCTGCCTTCCCAAACAGCCCCTGAACTCCTCCCTCCCACAGTTCCCATGGACACCTCGGCCCAAGACTTCCGGGTGCTGTACGTCTTTGTGGACATCCGGATAGACACTACACACCTCCTGGACTCTCTCCGCCTCACCTTTCCCCCAGCCACTGCCCTTGCCCTGGTCAGCACCATTCAGTTTGTGTCGACCTTGCAGGTGGGTGGAACGAGGATCCTCGGCCTCCTGCAGGGTGGACAGCGGCCACTCTCCAGCTGTTGCGGGATCCCCAGGTGCTCCAGGCTGTTTCTCAGCCCTGGCTCTCCTGCCCCAGCCGCTGGCTTCACTTCCCTCGTCATTCCTACAGGCAGCCGCCCAGGAGCTGAAAGCCGAGTATCGTGTGAGTGTCCCACAGTGCAAGCCCCTGTCCCCTGGAGAGATCCTGGGCTGCACATCCCCCCGACTGTCCAAAGAGGTGGAGGCCGTTGTGTAAGTTAAAAATGGGGGCCAAGTAAGTCCTAGAGACATGCGTGTACCCTGGGAGGGAGCCTGAGGTTCATCATCCAGGAAAGAAACCAAATCTAATGCTCCTTACCTGTGAGCCCGAGGTCACACTGCAAGGTAGGGACCAAACAGGGAGCAGACCTCAGGTTTACTGTCGCTTTCTCCACTGCCCAGTCCATCATCCAGAAGGCTGTGCAGGGTGGGGGCAGGAATCAGAGGGCCTGATGGGGGTTGAGGGTGGGCTGGAAATGGTGGGAATATAATTGGAGAAGATGGATGGGCACGCCCAGGCTGCAGCCCCATTAATTTACCATCCGGACAGCTAACAAGCAGAAGCAGCGTGTCTCCTGCCGCCTAATTATTTTAGGTAATGGAAATGCTTAATGTTGTGTGAATGCAGCCAGCCTGAGAGCCGACGGCTCCCCCGACTGGGACTAGGGAAGGGAGTCCCGTTCCGTACTAATGGCAGGGAGGGAGGGTCGCTCCCTGACTCAGTCCCACCTCTGGGGCTTTGGAGGCTGTTTCCACAGGCCTGACACCCCTGTCCCTAGACAGGCCCACATCAGGGCCTTCCCCAGCCCAGATCTGGCAGCCCTGCTCCCCGAGCAGCACTGAGTGGCATTCCCCCTGTGCCCACGTCACTCAGTCTCTACCCTTGGGGTCTTCAAAGTGTATGTTGGAGGGAGGGACACCCTGAGTGTTAGCCATTCATCAGAATGAAGTGTGGTCTCCAAGAGGGAGAGAAGGAGCTGCCACAGGCAGGTTATCTTCCACGCTCTGTAATCTTCATGGGCTGGGAAGCTACTGTCAGGGACAGCATGTCTGGGGGCACACTTGGTACAGCCTGGGTTGAGCCTCAGACACACTGCTTCCTAGCTGTTTAATACTAGGCGAGTTTCTTAACATCCCTGAGCCTCAGTTGTTACCTTCTGTAAAACAGGTATACTATACGTATCTGGGAGGATTAGGAGATAGGACTGCGTGAACTAATTCACAGCAGGTACTTAGTCTATGCCTGGTACACAGAAGGCACAAGTCCAATAAACAGTAGCTGTTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGCAGGAGAATTGCATATGTCCAGGAGTTTGAGACCAGCTTGGGGAATATAATGAAACCCTGTTCTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTAGCTGGGTACAGTGTCCATGCCTGTAGTCCCAGCTCCTCAGGAGGCTTAGGTGAGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGCGAGCCATGACCGAGTCACTCAACCTGGGTGACAGAGTAAGACCCTGCCTCAAAAAAACAAAATGAAAATCCGGTAGCTTTTGTTATAACTCAGTAACTGGCCCCAAGAGCTAGTTTGGGCAGAAAGTAGCCATTGTATGCCCTGCAACCTCATGTACAGCATAGATCAGAGGTCCCCAACCCCTGGTCCCATGTCCTGTTAGGAAACCTGCCGCACAGTAGAAGGTGAGGGGTGGGCCAGCCAGCGTGACCACCTGAGCTCCGCCTCCTGTCAGATCCGCCGCGGCATTAGATTCTTGTAGGAGCTCAAACCCTATCGTGACCTGTACATGCGAGGGATCTAGGTTGCATGATCTTTATGAGATCCTAATGCCTGATGATCTG
CCTGCTGCCACCCTCCCTCCCCTGCTCCCCCAAACCTCTCTTCTCCCCCCTTCCCCTCCCCTGCTCCCCCTCTCTCCCCTCCCCTTCCCCCTCCCCTGCTCCCCCTCCCCTCCCCTGCTCCCCATCCCCCTCCCCAGTTTCCCCATCCCCTCCCCTGCTGCCCCATTCCCCTCCCCTACTCCCCCTTCCCCCTCCCCTGCTCCCCCCTCCCCTGCTGCCCCCTCCCCTCCTCCCCCACTCCCCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCTCCCTCCCCTGCTGCCCCATCTTGTTGCCACAGACTCACTTCCCTGCTCCCACCGTCTTGCCCCTTGGGGATGCTCTCTGGGGCTCAGGCCAATTTGCATACATTTTAATCTATAAAAAATTAAGTGCTGTGGCTGACTTAGACGCCTGGGCTGCATTCTAAGGAGGTGAATAATCTGCTTCTGGGCACAGCCTGATTTGGGGAAGGGGGTGGAGGAGGGGGTGACTAGCAGGAGCTCAACTCTTCCACTGCCACACCCCCAGGGGAAGGATGGGGGGACCCCAGTCACTGAGCCAGGCTCCACGCCCCAAGTGTGAGTCTCTTTCAAGGAAGAGGGGGTTCTCCTCCATTCCTAGGGTGAGTTCAGGGGTACAAGGTCTTCCCCACCCACCCCCTCCCCCAGTGATTCAGGCCTGGCAGCAGTTCCCACGGCAGTGTTCTGGCCAGAGCCTCCTCTTCCTGATGCAGGAGGCGTGTAGGTGGTGCCATGTGCTATGGGGGAGCTGTGCCTGGGTCCCCCCATCCTGGGCACCAAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGGAGTGGGGGTCCCGGCAAGAGGGAGGCTGTGTGTATTCATACAGCCACGCCCATGCCCACCACAGCACTCAGCGCGGGAGTGAGGACCTTTGGGTGTGTGTGCGTGCTCACGGCTCTGGGTGGGTGAGTCAGGGCATGGGGCGTCTGTGTTTTGACCCCACGTGTGCCGGAGTGAGGGTTGGGGTCCCTCCTGCAGCCTGAGCCTGGGTAGAGGAATGAGGGTCCTCACGCAGCAACAGTTCCAGGAGCGGCTGCCAGGCTGGGGCAGGCGGCAGCTGTGCCCCTCCTAATCTTTGTTGGCAGAAGTGGCAGCTGCCATCCCGAGGAACTGGGAGAGGTAGGGAGAGAGGAGCTGGGCCCTGAGACACCCTCCCAGGGTTGGGTCTCTCCTACCTCAGTCCCTGTGTCCCTGTCCCACCGTTCCCCGCCCCTGTGCCCGCAGGTTCACGGAGGCCGAAGTGATGGTGATGGGTGACGTGACCTACGGGGCTTGCTGTGTGGATGACTTCACAGCGAGGGCCCTGGGAGCTGACTTCTTGGTGCACTACGGCCACAGTTGCCTGAGTATGGTGGGGCCAGGACACCTGGACGGTGGCGGGGCTGGCAGGGAGGCAGGCTGCACATTCATCTTCCCCATGGCAGTGCCTTCTTGTCCTGCTTGGAGACACAAGGTCCCTCCTGGTTTCTGGGGTGGCCTCTGCCTTCCCGCTCTGCAGGTAGATCTTTCCTTTGGATTTGGTTGCCTTGGCAACGGTGCTCTGTCCCAGATGCAGGTGTTTGAAAGGCTGTTGGTTGTAGAGCAGGCTGGGCCCCGGCCGGGTGACAGAGAAGTCTGATTGAGAAGGAGCTTCTAGGGGATCTGTGACCCCCCTCTTCTCCTACCCTGTCCTTTTACCCCCAGGCTGAAGCCACTGCGCCTGGCTGCTCAGAGACCTGAGCCTGGCCGGGCCCTCTGCTGCTCCTGCCTTCCCAAACAGCCCCTGAACTCCTCCCTCCCACAGTTCCCATGGACACCTCGGCCCAAGACTTCCGGGTGCTGTACGTCTTTGTGGACATCCGGATAGACACTACACACCCCCTGGACTCTCTCCGCCTCACCTTTCCCCCAGCCACTGCCCTTGCCCTGGTCAGCACCATTCAGTTTGTGTCGACCTTGCAGGTGGGTGGAACGAGGATCCTCGGCCTCCTGCAGGGTGGACAGCGGCCACTCTCCAGCTGTTGCGGGATCCCCAGGTGCTCCAGGCTGTTTCTCAGCCCTGGCTCTCCTGCCCCAGCCGCTGGCTTCACTTCCCTCGTCATTCCTACAGGCAGCCGCCCAGGAGCTGAAAGCCGAGTATCGTGTGAGTGTCCCACAGTGCAAGCCCCTGTCCCCTGGAGAGATCCTGGGCTGCACATCCCCCCGACTGTCCAAAGAGGTGGAGGCCGTTGTGTAAGTTAAAAATGGGGGCCAAGTAAGTCCTAGAGACATGCGTGTACCCTGGGAGGGAGCCTGAGGTTCATCATCCAGGAAAGAAACCAAATCTAATGCTCCTTACCTGTGAGCCCGAGGTCACACTGCAAGGTAGGGACCAAACAGGGAGCAGACCTCAGGTTTACTGTCGCTTTCTCCACTGCCCAGTCCATCATCCAGAAGGCTGTGCAGGGTGGGGGCAGGAATCAGAGGGCCTGATGGGGGTTGAGGGTGGGCTGGAAATGGTGGGAATATAATTGGAGAAGATGGATGGGCACGCCCAGGCTGCAGCCCCATTAATTTACCATCCGGACAGCTAACAAGCAGAAGCAGCGTGTCTCCTGCCGCCTAATTATTTTAGGTAATGGAAATGCTTAATGTTGTGTGAATGCAGCCAGCCTGAGAGCCGACGGCTCCCCCGACTGGGACTAGGGAAGGGAGTCCCGTTCCGTACTAATGGCAGGGAGGGAGGGTCGCTCCCTGACTCAGTCCCACCTCTGGGGCTTTGGAGGCTGTTTCCACAGGCCTGACACCCCTGTCCCTAGACAGGCCCACATCAGGGCCTTCCCCAGCCCAGATCTGGCAGCCCTGCTCCCCGAGCAGCACTGAGTGGCATTCCCCCTGTGCCCACGTCACTCAGTCTCTACCCTTGGGGTCTTCAAAGTGTATGTTGGAGGGAGGGACACCCTGAGTGTTAGCCATTCATCAGAATGAAGTGTGGTCTCCAAGAGGGAGAGAAGGAGCTGCCACAGGCAGGTTATCTTCCACGCTCTGTAATCTTCATGGGCTGGGAAGCTACTGTCAGGGACAGCATGTCTGGGGGCACACTTGGTACAGCCTGGGTTGAGCCTCAGACACACTGCTTCCTAGCTGTTTAATACTAGGCGAGTTTCTTAACATCCCTGAGCCTCAGTTGTTACCTTCTGTAAAACAGGTATACTATACGTATCTGGGAGGATTAGGAGATAGGACTGCGTGAACTAATTCACAGCAGGTACTTAGTCTATGCCTGGTACACAGAAGGCACAAGTCCAATAAACAGTAGCTGTTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGCAGGAGAATTGCATATGTCCAGGAGTTTGAGACCAGCTTGGGGAATATAATGAAACCCTGTTCTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTAGCTGGGTACAGTGTCCATGCCTGTAGTCCCAGCTCCTCAGGAGGCTTAGGTGAGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGCGAGCCATGACCGAGTCACTCAACCTGGGTGACAGAGTAAGACCCTGCCTCAAAAAAACAAAATGAAAATCCGGTAGCTTTTGTTATAACTCAGTAACTGGCCCCAAGAGCTAGTTTGGGCAGAAAGTAGCCATTGTATGCCCTGCAACCTCATGTACAGCATAGATCAGAGGTCCCCAACCCCTGGTCCCATGTCCTGTTAGGAAACCTGCCGCACAGTAGAAGGTGAGGGGTGGGCCAGCCAGCGTGACCACCTGAGCTCCGCCTCCTGTCAGATCCGCCGCGGCATTAGATTCTTGTAGGAGCTCAAACCCTATCGTGACCTGTACATGCGAGGGATCTAGGTTGCATGATCTTTATGAGATCCTAATGCCTGATGATCTG
Task1_train_23183
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?
Pathogenic; Lissencephaly due to LIS1 mutation
TCTCAGAATTTAGATGGAGTGATAGTGATGGCTTTCAGCTATCATTTGTAGTTAGCTGGGCTCCAGGTCAGAAGAATCCTTAAGGATTATAAAATAAATTCCTGCTTATATTTACTAGAATTGTTCTTCAGATAAGGATCTCTAATGAAATAGCAGTTGCCATAGCGAGCACCTGAGCTGTCACTTTTTCACTCAGGGCTCATGTTCGTTTTTCGTTTGTTTGTTTTTGAGACGGACTCTTCCTCTGTTGCCCAGACTGGAGTACAGTAGCATGTTGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTTCTCGCAAATTTTTGTATTTTTAGTAGAGACGAGATTTCACCGTGTTGGCCAGGCTGGTCGCAAACTCCTCACCTCAAGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTAGGTTTGCAGACATAAGCCACCACGCCTGGCCTCAGGGCTCATATTTGAAACCCGAAGGTATGCATTTTTTTTTCCTTTAAAAGAAATTGGGTCTCGCTTTGTCACCTAGGCTGGAGTGCAATGGCATGATCGTAGCTTTCCATAACCTTGAACTCTTGGGTAGCAAGCATTCCTCCTGCCTTAGCTTCTCAAGTAAGCATGCACCATCACACCTACCTAATTTTTAAAATTTTCTGTAGAGACGGGGTCTCCTGTGTTTCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCTTGCCTTAACCTCCCAAAGTACTAGGATTAATTACATATGTGAGCCACCACACCCCGCCTCTCATTCTTCTTTCTTCACTGGCTTATTCATTACTGTATTCTCAGTGCCTGGAGCAGTGACTGGAATGGCATTTGAAAGGTACTCAGGAAATGGTCCTTAACTCTTCTGTCCATGATAGGTTTCTAGATTGGTTGTCCCACAGGATCTTCATTATATGTTAATTTCATATCATTTGGAGGATGATTTTTTTATTGCTTTGAATTGCCTCTTCCAATCAAATTTTATATATACCAGTAGCCTCTATTTTAAGTAAGACCATCTCAAATACATTTCTTAATTAGGTACATTGGTTAAGAGAGCATAAGATTCCAGCACTTTGGGAGACTGAGGCAGGAGGATCCCATGAATACAGGAGTTTGAGACCAGCAATGTAGGGAGACCTGTCTCTACAAAAAAAAAATTTAAGAATTAGCTGGGCATGGTGGTGTGTGCCTGTCGTCCCAGCTGCTTGGGAAGCTGAGGTGGGAGGATCGCTTAAGCCCAGAGGGGGAAGGCTGCAATAAGCTGTGATCATGCCACTGCACTCCAACCTGTGTGAGAACCTGTCTCCAAAAAAACAATAAAAAGCGTAAGATTGCTAAGTAGTGTATGTTATAAATACCGGCCATTCTAAGGTTATTGGTGACTAACACTCAACCTTGAAGGTTACTTCAGTTATAGTTGGCACTGTTCGGCTTGTGCAGTTCATGAAACCCTTATCTGTTTTACCTTTTATACCTTTTTTGTAAATTTGAAATTTTACTTTTTGTCTCTAAGAGAGAATTACATTCGTTTAGAGTTACATGTTAATATTTGAAATCAAATGTATCTGGCAGGTTAACATGATTGGGAGTGGGTAAATGTATGTTAAATTTAAAAGTAATGCTGTTTTGGCTCATTGAATTATTAATTTAAAAGACAAAACAGTATGGTTTTTGACATTAGTTGACTTTCACTATAAGTGGAAAATCATCATCTAATATTTATACTAACATCACAATAAAATTTATCTTTGAAAATGAGTACTGTAACTAATAATTTAGAAATAAATTTTAAGTGAAATAATCTTTTTTTTTCTTCTCTTTCTCCTTAGGTGGAATGAATCTTACTTGTTGAATATCTTCTGGTTACTAGTTGGATTCATTTGTGAAAGAATCATTTTCCCCTGTGTGGAAGACACTTAGTGGCATATTTAAATTATAAGTCCACGGATCAAAAAGCTTTTTGATTTCCCAAAGGAGGGACATACCACTATATCAGATAAGCTTGACATTACAGCCAAGATGGTGCTGTCCCAGAGACAACGAGATGAACTGTAAGTTTCTTTGTTTTGTGCTTTAAAAAAAATCTCCCTCATGAGAGAGAAAGTAGTAAATTAAAATACAGCTTTGGGAGGTCTCTTCTAAGATTAAAACTATTTTTACCAGTGTTCCAATATTAGTTTAGGCAGTTTGGTCTGATTTTAAAACAGTCTTATTATGATATAGCATTATTTTTAAAATTTATTTATTCTTTCTGAGAAGGAGTTTTTCGCTTTTGTCACCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTTCAACCTCCGCCTCCCAGGTTCAAGCTATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCTACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTCACCATCTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTTTGCCCGGCCGTGATACAGCATTATTCACCCTTGTGACTTGACTGTATGTAAGTTTAACGCAAAACAGACAAGTCAGTTGGGATGAGTTTTACCCTAAGCTTATTTTTATTTTTATTTTTGAGATGGACTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTTCTGCCTCAACCTCCCGAGTAGCTGAGACTACAGGTGACCGTCAACACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCTAAGCTTATCTTTTAAAATATTATGTTCAATAGGAAGTTAGGTGCTTCATAGCTCCTCTAAACCTTTTTTTGGTGTGGAATCTGTGCATTAGAAAAATGAAAGCTGTTTTGTTCTTGTTATCACTGATGTCTTTCCTTTGCCTTGTTGTGTTTCTTTTATCTTCCAATGGCCATTACAGAATTTGAAGAATTTGAACTTTATGAGGTAGCTAATAAAATAATTAATGCAGATGCTTTAATGAGAGAGGTGTGAAATGGTTTGACCTCTTCTGTTTTAGAGTATTTTATAGCATTCCATTTTTATAGGTGAAGAACATAGGGGGATTTTCCACTCCCCCGCTTCACCTGACTAGCTTTAAAAACATAAAAACAAAACGGGAAAATGTAGCTTTATGTTCTACTTCTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCTTCCAGGGTTCAACCAATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACTGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAAGGGTTTCACCATCTTTGCCAGGCTGGTCTCTAACTCCTGACTTCGTGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTATGTTCTATATTTTTACAATTAAAAAAAAAATTTTGTGGCTTTTCAACAATTTTTATTTGGAAGTAATTTCAAATTTATAAAGTTGCAAGATTAGCACAAAGCATACTAATGTTTTTTGAAATACACCCATTGTTAACATTTTGTACCATTTGCTTTATCATTTGCACTCTGTGTGTTGGGGGTCTGTGTGTGCAGTATGCAATAGGTTTTTCTTAAACCATGTTAGAGTAAGTTGCATATATCAAAGAAATACCTTTTCCCACAAATAAACTTAAGTAGTTCCCCAAAATAAGGATATTCTATAAAACCATAGTATAGCTAGCAGTTTTATTAAATTTAACCTTCCATATTCCAGTTTTATCAGTTGATTCCATAATGTCCTTTGTGGCACTTTGTTACTCTCGTACATCATCCCATCCAGGATCAGGTATTTCATTTAGCCCTCATGTGTCTTCA
TCTCAGAATTTAGATGGAGTGATAGTGATGGCTTTCAGCTATCATTTGTAGTTAGCTGGGCTCCAGGTCAGAAGAATCCTTAAGGATTATAAAATAAATTCCTGCTTATATTTACTAGAATTGTTCTTCAGATAAGGATCTCTAATGAAATAGCAGTTGCCATAGCGAGCACCTGAGCTGTCACTTTTTCACTCAGGGCTCATGTTCGTTTTTCGTTTGTTTGTTTTTGAGACGGACTCTTCCTCTGTTGCCCAGACTGGAGTACAGTAGCATGTTGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTTCTCGCAAATTTTTGTATTTTTAGTAGAGACGAGATTTCACCGTGTTGGCCAGGCTGGTCGCAAACTCCTCACCTCAAGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTAGGTTTGCAGACATAAGCCACCACGCCTGGCCTCAGGGCTCATATTTGAAACCCGAAGGTATGCATTTTTTTTTCCTTTAAAAGAAATTGGGTCTCGCTTTGTCACCTAGGCTGGAGTGCAATGGCATGATCGTAGCTTTCCATAACCTTGAACTCTTGGGTAGCAAGCATTCCTCCTGCCTTAGCTTCTCAAGTAAGCATGCACCATCACACCTACCTAATTTTTAAAATTTTCTGTAGAGACGGGGTCTCCTGTGTTTCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCTTGCCTTAACCTCCCAAAGTACTAGGATTAATTACATATGTGAGCCACCACACCCCGCCTCTCATTCTTCTTTCTTCACTGGCTTATTCATTACTGTATTCTCAGTGCCTGGAGCAGTGACTGGAATGGCATTTGAAAGGTACTCAGGAAATGGTCCTTAACTCTTCTGTCCATGATAGGTTTCTAGATTGGTTGTCCCACAGGATCTTCATTATATGTTAATTTCATATCATTTGGAGGATGATTTTTTTATTGCTTTGAATTGCCTCTTCCAATCAAATTTTATATATACCAGTAGCCTCTATTTTAAGTAAGACCATCTCAAATACATTTCTTAATTAGGTACATTGGTTAAGAGAGCATAAGATTCCAGCACTTTGGGAGACTGAGGCAGGAGGATCCCATGAATACAGGAGTTTGAGACCAGCAATGTAGGGAGACCTGTCTCTACAAAAAAAAAATTTAAGAATTAGCTGGGCATGGTGGTGTGTGCCTGTCGTCCCAGCTGCTTGGGAAGCTGAGGTGGGAGGATCGCTTAAGCCCAGAGGGGGAAGGCTGCAATAAGCTGTGATCATGCCACTGCACTCCAACCTGTGTGAGAACCTGTCTCCAAAAAAACAATAAAAAGCGTAAGATTGCTAAGTAGTGTATGTTATAAATACCGGCCATTCTAAGGTTATTGGTGACTAACACTCAACCTTGAAGGTTACTTCAGTTATAGTTGGCACTGTTCGGCTTGTGCAGTTCATGAAACCCTTATCTGTTTTACCTTTTATACCTTTTTTGTAAATTTGAAATTTTACTTTTTGTCTCTAAGAGAGAATTACATTCGTTTAGAGTTACATGTTAATATTTGAAATCAAATGTATCTGGCAGGTTAACATGATTGGGAGTGGGTAAATGTATGTTAAATTTAAAAGTAATGCTGTTTTGGCTCATTGAATTATTAATTTAAAAGACAAAACAGTATGGTTTTTGACATTAGTTGACTTTCACTATAAGTGGAAAATCATCATCTAATATTTATACTAACATCACAATAAAATTTATCTTTGAAAATGAGTACTGTAACTAATAATTTAGAAATAAATTTTAAGTGAAATAATCTTTTTTTTTCTTCTCTTTCTCCTTAGGTGGAATGAATCTTACTTGTTGAATATCTTCTGGTTACTAGTTGGATTCATTTGTGAAAGAATCATTTTCCCCTGTGTGGAAGACACTTAGTGGCATATTTAAATTATAAGTCCACGGATCAAAAAGCTTTTTGATTTCCCAAAGGAGGGACATACCACTATATCAGATAAGCTTGACATTACAGCCAAGATAGTGCTGTCCCAGAGACAACGAGATGAACTGTAAGTTTCTTTGTTTTGTGCTTTAAAAAAAATCTCCCTCATGAGAGAGAAAGTAGTAAATTAAAATACAGCTTTGGGAGGTCTCTTCTAAGATTAAAACTATTTTTACCAGTGTTCCAATATTAGTTTAGGCAGTTTGGTCTGATTTTAAAACAGTCTTATTATGATATAGCATTATTTTTAAAATTTATTTATTCTTTCTGAGAAGGAGTTTTTCGCTTTTGTCACCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTTCAACCTCCGCCTCCCAGGTTCAAGCTATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCTACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTCACCATCTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTTTGCCCGGCCGTGATACAGCATTATTCACCCTTGTGACTTGACTGTATGTAAGTTTAACGCAAAACAGACAAGTCAGTTGGGATGAGTTTTACCCTAAGCTTATTTTTATTTTTATTTTTGAGATGGACTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTTCTGCCTCAACCTCCCGAGTAGCTGAGACTACAGGTGACCGTCAACACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCTAAGCTTATCTTTTAAAATATTATGTTCAATAGGAAGTTAGGTGCTTCATAGCTCCTCTAAACCTTTTTTTGGTGTGGAATCTGTGCATTAGAAAAATGAAAGCTGTTTTGTTCTTGTTATCACTGATGTCTTTCCTTTGCCTTGTTGTGTTTCTTTTATCTTCCAATGGCCATTACAGAATTTGAAGAATTTGAACTTTATGAGGTAGCTAATAAAATAATTAATGCAGATGCTTTAATGAGAGAGGTGTGAAATGGTTTGACCTCTTCTGTTTTAGAGTATTTTATAGCATTCCATTTTTATAGGTGAAGAACATAGGGGGATTTTCCACTCCCCCGCTTCACCTGACTAGCTTTAAAAACATAAAAACAAAACGGGAAAATGTAGCTTTATGTTCTACTTCTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCTTCCAGGGTTCAACCAATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACTGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAAGGGTTTCACCATCTTTGCCAGGCTGGTCTCTAACTCCTGACTTCGTGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTATGTTCTATATTTTTACAATTAAAAAAAAAATTTTGTGGCTTTTCAACAATTTTTATTTGGAAGTAATTTCAAATTTATAAAGTTGCAAGATTAGCACAAAGCATACTAATGTTTTTTGAAATACACCCATTGTTAACATTTTGTACCATTTGCTTTATCATTTGCACTCTGTGTGTTGGGGGTCTGTGTGTGCAGTATGCAATAGGTTTTTCTTAAACCATGTTAGAGTAAGTTGCATATATCAAAGAAATACCTTTTCCCACAAATAAACTTAAGTAGTTCCCCAAAATAAGGATATTCTATAAAACCATAGTATAGCTAGCAGTTTTATTAAATTTAACCTTCCATATTCCAGTTTTATCAGTTGATTCCATAATGTCCTTTGTGGCACTTTGTTACTCTCGTACATCATCCCATCCAGGATCAGGTATTTCATTTAGCCCTCATGTGTCTTCA
Task1_train_23184
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?
Pathogenic; Lissencephaly due to LIS1 mutation
TAGGCTGTTAGAACCAAGAGTTTTGTGGGTTTTTGTTTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCAGGGCATCAAAGGTGGTAGTGCTAAAATTCTCTGGATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTGCGTCAGTCTTCCAAGTAGCTGGGACTACAGGCGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCCGACCTCGTGATGCGCCCACCTCGGGCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCTCCCAGCCTCTGGTCTTGAACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAAT
TAGGCTGTTAGAACCAAGAGTTTTGTGGGTTTTTGTTTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCAGGGCATCAAAGGTGGTAGTGCTAAAATTCTCTGGATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTGCGTCAGTCTTCCAAGTAGCTGGGACTACAGGCGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCCGACCTCGTGATGCGCCCACCTCGGGCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCTCCCAGCCTCTGGTCTTGAACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCGTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAAT
Task1_train_23185
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?
Pathogenic; Lissencephaly due to LIS1 mutation
TTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCAGGGCATCAAAGGTGGTAGTGCTAAAATTCTCTGGATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTGCGTCAGTCTTCCAAGTAGCTGGGACTACAGGCGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCCGACCTCGTGATGCGCCCACCTCGGGCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCTCCCAGCCTCTGGTCTTGAACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGG
TTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCAGGGCATCAAAGGTGGTAGTGCTAAAATTCTCTGGATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTGCGTCAGTCTTCCAAGTAGCTGGGACTACAGGCGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCCGACCTCGTGATGCGCCCACCTCGGGCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCTCCCAGCCTCTGGTCTTGAACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTCTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGG
Task1_train_23186
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?
Pathogenic; Lissencephaly due to LIS1 mutation
AGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGC
AGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACACCTGGCCTTTTTTTTTTTTTTTTGAGAAGGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTTCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGGGCTTGCCACCACGCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACTTTGTGATATATATCTATATCTATCTATCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCCATCTATAAAGCCCAAAACATTTTTGGTCCCGAGCATTTTGTATAAAGGGTACTCAAACTGTAGAAGGCAAACATGAAAAGGCTAATTCAGCTTCTCTAACCTTCAAGTTCTAATTCTAAATGAATGTCTCATTCTACGACAGTACACTAAGTTTATACTGTATGATTGCTTTTTTTCACCCACTCCAATGGTTCAAAGTTATTTCTAATATGAAAATACTTTAGTTTTCTCAAAACTTTTCTCTGCAAAACTAAATTCCAGCTGTCAGCCCTTGAGTGTATAACAAGTGGTAAAGAAAGACTAAATGTAAATGTTAGCAAAATTGATGGTTGCTGTCACAGAGCCATAGCTTGATCTATAGAGTGCCTACAGCTTGTGAGGTAAGCAACACATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAACGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGC
Task1_train_23187
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.
Pathogenic; Abnormal cortical gyration
TTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAA
TTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTAAGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAA
Task1_train_23188
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.
Pathogenic; Lissencephaly due to LIS1 mutation
TCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAA
TCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGACTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAA
Task1_train_23189
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.
Pathogenic; Lissencephaly due to LIS1 mutation
AAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGT
AAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATGTTTTACTTTTTACAATTCAAAGTATAGTTAATGAGTGGATTTTCACTCAAGTATCTGTAGTTAACAGTTACGCACAATTTTGTCATTTGTTATTGTGGTCTACTTGGTACTGAACTTGATTTTCACTCCTTTTTTTTTTATTTTTTATTTTAATTTTTGAGATGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTACTTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTACAGGTGAGCCACCATGCCCAGCCACTCCCTTTTTTTATAATCAGATTTTTAGTAATATTTGGACTTAAAGATGAATGATCTTTGTCTTGAGGATCATAGTTAAGCCATTTTTTAAAAATTCTAAATTTATTTTCTCTAGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTTGTATTCAGTTATATAAACTTTCTGAAAATAACATTCTTCTGCATTAATTAATAATTGCATCTAATCTTTAAAAAGCAAATAAAAATACATTTTTTGTGCTTCATGAAAAGTATGACCTAGGCATATTATTGCAGATACATGGTAATTCACATATCTGGAGTTGCTGACTGGGTTCAATCTGCATAGTCCTGACTTTGAGGAATTGATACTGAAAGAACTCATTTGTGCACTTAGAAGGAAAGAATACATGGAGCCATTGTGATTAATGCTGGGAAAAGAACACTAAAATGTGCTCGTAGACAAGTTGTTTTTATCTCTGAGCTTTTATTTTTATCTGTAAATACAACAAATAATATTCCAGTCCTAAAATGGATACTTCATAGGCAAAGTTAGAATAAGTAAATAACATTGTTATGAGTTCATCATATAAAGCTCTTAGAAAAATGCTTAGCACATAGTAGATGCTCAATAAATATTAGCTTTTATTAATATTATTATTACCATATATAATGTGGTTTGGAAAGAACTTACTAAGAGTAGCAGCCTTAGAGGGACCAAGACAAATTCACTGCCCTTCTCTAATTAGTAGAGGACTCTGTCACCAGATACAAATCGAAATTTTTCTTTTTGTTAAAGAGTTAAGGCAATTGTACTGAATTTTTCTCAATTTTTAGTTTCCTCACATGACTTAGATTTTGATGCTGTACAAAATAAATAATTTTCATTTAAATTTGACAAATGCTTTGGAGATTACTGAAATTTTTTCAAGTATCCTACATACATAGTTGCAAAATAAAGGCAGTTTTTTAAAATGTCACATGCTATTTTTATTGAAATCTATCTGTACGTAACTACATGTTCTTTTTCAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGTTGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGGAGGCTGAAGCAGGAGAATGGCATGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGACTTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAGAGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAGACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAGGTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGATGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAAAAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGACAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAGAGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCCAGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCATTAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCTTTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACAATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAATATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTAAGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGT
Task1_train_23190
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.
Pathogenic; Lissencephaly due to LIS1 mutation
CACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATG
CACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTCTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATG
Task1_train_23191
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?
Pathogenic; not provided
CTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGC
CTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACGTACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGC
Task1_train_23192
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.
Pathogenic; Lissencephaly due to LIS1 mutation
GCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAA
GCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCAGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAA
Task1_train_23193
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.
Pathogenic; Subcortical band heterotopia
GAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGT
GAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACATGAGCCTGGGAGTTGGAGGCTGCAGTGAGCTATGATTGAGCCAGTGTACTCCAGCCTGGGCGAAGAGTGAGACCCTGTCTTAAAAACAAAAAAATTGGACTGGGCACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGAGTGATGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACACACATACATATATATGTGTGTCAAATTGTCAAGGTATTTTACCTATTAAATAAGAATTCCCAGTGATGATAAGATTTTGATAAAGTAGTCATTCTCATTACATATGATACAGTCTTACGGGATATCAATTTAATAGAGTATATGAAGGCTTTAAAAGTTTATACTTTTTGACCCACTAATTGTTTCTCCCCATTACTGTCTGACCTAGGTATTATAAAATGAGGACAGAATTTTTTTATATTAAAAAATGTTCACTATAATGTTTTCTATAATAGTGATTTAGCCAGCAATTAGAATTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCCGGGAGTACAGGCGCCCACCACTGTGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATAGTCTCGAACTGACCTCGTGGTCCGCCCGCCTTGGCCTTCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATATTTCATTTTTTAACTCAAAATGACATATGCTCTTGTTCATTTGCTATTCGTGAACAGTTAACATCTTCTGAAATCTTTCCTTGGCCCTTTAGATGTCTGAGTTCTGATGGTCTAGTAGGATCGAGTATTCATCCATTGTTCCTCAAATATTCTACATACAAATGCCTGCTATAGCCCTCTGAAGCTCCTTCCCTTCCCCTTCCCTTTCCCCTTTCTTTCCCTTTCCTTTCCATCTCTTTCTCTTTCTTTCCTCTTATTTCTTCCCCTTAAGTTTCCTTATTTACATGTCATTCCTGCTCTGAGACAGGGAGCGGACTATGTCTTGTGACTTTATATACCTTATCACTATTACAGTTGGTTATGTGATAGAAACCTTATAAATGTGGTTCTAGAGATAGATTTTAATAATTGCAACATTAGTTTTCCCTGTAGAAAAAAAGACCAATTTATACATGAGATACAATATTTCTAAAATAGTTATCCTTTGTTACTTGTTCGGTTAGTTACTCAGTAAGGTGCCAGACTGGCCTGCTGAGTGCAAATGTGAAACAAGAAAGGAGTGATGGAGTTGGTGTTAACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTCCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTAATTTCTATCATGGTACTTCAGAAGGAATATTGTTTCTAACAGTGTACAGTGTTCCTTTATTCACCTCTTAATTGTCAGTATTGGTGGAAGAGCATACCATGTAGATAGTCCAGGGATAAGCCACAGTAGTTGAGAGTGCTTTCTATTAGGAAGTTTTAAGTATCTTTTAGTACTTTACATAAAATATTTGTATGAGTATTTCTTGGTAAGAAAAACTGCCAGGTCATTTATCTGTATTTGAGTTAAAAATGGTTTTGTTTGTGTTTTAATTTTTGTTAGTTGGGAAACTGAAGTCCAGAGAGAGTAGGTCGAGTGAAAACGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGT
Task1_train_23194
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.
Pathogenic; Lissencephaly due to LIS1 mutation
GTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACG
GTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTATACATGATGACATTTGAATGTTGGGATTTTGTACAAGGAACACGTTAACACATGAGTAAACTGTGTTTACCTAGAGGGCATAATTTGAAGGTTGTGTTTTCTCTGTCCCAAATTAAATGCATTGGGGAAGTTTATAATTACAGGAATTCCACGCATGAACACTGTTTTTTTGTTGTTGTTTTTTGGTTGTTTTTTTTTTGAGACTGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTATAGGCACGCGCCACCACGCCCGTCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCCTGATCTGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACGTAAGGTCTATCATTTATTTTTCTTTAAGTTGCCTGTATCTTCTAGCTGTAACTTTAAAAAGAGTTCTTTCTAATGCATTTTTTTTTTTTACCCCCAACACCACCTTTTTTTTTTTTTTTTTTTTTCTGGAGATGGCCTCTTGCTTTGTCACCCAAGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGCAATACAGGCAAGCACCACCACACCCGGCTAACTTTTTTATTTTTAGTAGAAACAGGGTTTAACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCGCCTGGCCCACCATTTTAAACAGAGAACCAATTCCCCATTTTTTGTATCCATTTGCTTTATCTTTTTTATATCTTAGAATATCAACCTAGAAGCTAGGCACAGTGGCTCACACCTATAATCTCAGCACTTTTGGAGGCCAAGGCAGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGAGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACG
Task1_train_23195
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.
Pathogenic; Lissencephaly due to LIS1 mutation
GCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATC
GCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCCTGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATC
Task1_train_23196
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?
Pathogenic; Lissencephaly due to LIS1 mutation
GGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATCTACTTGGGAGG
GGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTAAATCCAGGTTTCTTATCCAATTTGTATAAAATCCAGTGTATTTAGAACTTGCTTTGACATAGTGAAACCCCATGGTAAAATCCCATGGTCAATTGATGTTTCATTGCTCTTGGTGGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGGCATCAGCGGCCAGGTGCAGTGGCTCACACCTGTCATCCCAGCGCTTTGGGAGGCCAAGGTGGGCAGATCACCTGGTCAGGAATTGAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTATTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGGCATCAGCTTAAAGACATATTTATAAAAAACAAAATTGTGTTCTGGTGTTGCAGTCACTTCGACTTTAACCCGGAATGATCATTATGACAGTCATATTAAATATACTTTAAAACTAAGTTTGATCTGTACATGTCTCCCAAAAAGGAGCACAGAGACATTGTAAGGAGAGACTCTATGTCCTTGAGAAGCATTTCTGTGTAATGGCTTATTTCCTCTGTGGTCTTCTTTTAGGTGATCTCTCTGTGGGTTTAAATTAAAGTGTAAATAATCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAGTAAATAATCTTTGTGCTGGTATACCTCTGTTAGGCTGAATTTGGTTGTGCATAGAATTACACTTGATTTTTGTAGTACAAAGTTACTAGTTTTACTCAGATTAGTAGAGCATAGCTTTTTTCCAATATGGCTGGAAATACTTTTAAGTGTGCATTTAGTTTTGAAAGATTTTATTTCTTATACATATTTTATCTTCTAGATGTTGATTTTATTAGCTCCTTAATGATATGTCTGTTAGCTTATTGTTCCTACTTTAATTAACCAGGATTGTACATTTATTCTGTCGACTTGCATCTCTAACTTGGTACCATTCTCTTCATCCCAGTACATATTTTTATATCACTTCTGGGAAGTGTCCTGATGATTGTCATTCACAGTGTAAGTTATTATTTATATTGACAGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAACGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTTATTGCTGATATCTGAAGTCCTTAGATAACTTTGCTAATTCCCTGTTTCAGGGCTGTTAATGCATTTAAAAATCTGCATCCAGCAATTCTGAATCTTGAAATTCTCTACTCTTCACAGCTTGCTGATGTGTTTACATTATTTAACCAGTGATGATTATTGCTGTCAGCCTATCCTTGATTTGATACGTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATCTACTTGGGAGG
Task1_train_23197
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?
Pathogenic; Lissencephaly due to LIS1 mutation
GTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATCTACTTGGGAGGCTGAGGCAGGAGATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGACCCAAGATTGCACCACGGTACTCCAGCCTGGGTGACAGAGCCAGACTCCGTCTGAAAACAAACAAAAAACCAAAATGCAACAAAAAAATTGGAAATATATATCATTATTAGATAGAAGCCATTTAAAGTCCATACCTAACTTCTTGTGTGGGAAACTTAATTTTTATTATGTTTTCTGTAGACTAAAAAAAGTGGTAAACCTGGGCCATTCTTGCTGTCTGGATCCAGAGACAAGACTATTAAGATGTGGGATGTCAGTACTGGCATGTGCCTTATGACCCTCGTAAGTTTGCATAATCTTACCATTTCTTTTGCATCTTCACTGTTTATACCTTTTTGGATTAATGCTTTATGATATCTTAAATAATCTGAATTATTCTGGGCTTTAAAATAACTTCTTTATAAAGATAGTTTTCCTTTAGCTTTTGTTGTTGTTATAGTGATGTGAAAGTTATTTCTCTAGAATGCAGATTCTATAAAGAATCTGTAGAGCCAGTCGGTGTTTGAGGGGGAGATGCTGCTAGCTCACTGTATCTTTAAAAATTGTGTAATATCTCGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGCTAACTTGGGGAAATCCCGTCTCTACCAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAATAAAATAAAACAAATGTGTAATATCTCTTACGGAGAAAAAGCAGCATTCTTAGAGACCTGTTCACTGTTGAAGATGTTTGTTTCTCTGTTTCACTTTATTTATATGAATCCTTTTAACTGTTATACCTCCTTGCTCACATGATCTAGTTTATTTGGCTTATTTAGGAGCATCTGTATTTCCATAGAAAGATATGTCAATACTAGTAAGGGATTGTGGACATTCCTATGTGCCTAAAGGAGTTCCAAGGAGATCTGTGGATGTTTGTTTAGTAGTAGTTTTTATAATTTGGCATCCACATTTGTTTAGAGATTTTTTAGGTGCTAATGATACCTTGAAGTGATTGTCTCTCTGTAGGATATGACAGACATATGTGGAAGCATCTTCAAGAACTGATTAGAAAATGAAACTCTCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGAGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATCCTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGACCGGAGATGGCACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCAAAAAATAAATAAATAAATAAATAAAAAGAAAATGAAACTCTCCTCTAGTAGTATTCTGAGCGGAGTTCAGCTATACCATGTTGCTGTTAAGAAAAGATGATATATAATTAAAATAAAGCAGGCCAGGCGCAGTGGCTCACTCCTGCAATCCCAGCACTTTTGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAGGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCCGGGCGTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATA
GTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTATGGTTTTGGTCTTTATTATTAATATGTTAAAAATTACAAGGTACAGCGGCACATGGCTATAGTCCTAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGTGTCCAGAAGTTAAAGTTCAGCCTGGGACAACATAGCAAGATCCCTGTTTCTAATAAATGAATGAAAATGAATGGTCTAAAACTTTTGTTTGTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTAGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACGGATGCATGTACCACCCTGCCAGCTAATTTTTATATTTTTAGTAGAAACAAGGTTTTGCCATGTTGGCCAGGCTGCTCTCAAACTCATGGCCTCAAGTGATCCGACCACCTCAGCTTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTTCACATTGATTTTGACAGAGGCATTCCTATCATGTATTTTTAAAACTACATGTCAATAAACAAAGGAGGCAGTTTCCTCTCCCTCTACCCCCATCCCACTTATTTTTCTAAATGAATCTTCTCTTGTGAGTTCTCTTTATTTTGATTGGCCCATTGCATTTTGAGATTCTGTTTACTGCCCTCTGGTGGTGGTTACATGCTGTATGTCATAAATTTGATTCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGCAACATAGCGAGACCCCGTCTCTACAGAAAACTTTTTTTTTTTTTTTAAACTCACCACTATACTAATGACGGAAAAAATTTTCAAAAACTTAGCTAGGTGTGGTGGTACACTCCTGTAGTCCCAGCCACTAGGGAGACTGAGACAGGAAGATTGCTTGATCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTGTTCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTTGAAATAAATAAATATTCCCTAATCCAGATCAAAAAAATAAATAAGTAAATTTGGTTTTGGTTGGATTTGTAAAAGTTAAATTAAATAGTGATTACAGAAATCTTGAAAAGTAAATTTATTATCTGTTGGTTTTATGAAAACTGAGTCCTAACCTAAATAGAGACTTCTGTTCTTACATTATCTGAGTCCTTCCTGTGTAGCATAGGTATGGTGTGAAAGACTTGTGTATTTCAACAGATAAAAACAAATTGGGCTGGGCGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCCGATCGATCATCTGAGGTTAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCACATGTGGTGGTGCGTGCCTGTAATCACATCTACTTGGGAGGCTGAGGCAGGAGATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGACCCAAGATTGCACCACGGTACTCCAGCCTGGGTGACAGAGCCAGACTCCGTCTGAAAACAAACAAAAAACCAAAATGCAACAAAAAAATTGGAAATATATATCATTATTAGATAGAAGCCATTTAAAGTCCATACCTAACTTCTTGTGTGGGAAACTTAATTTTTATTATGTTTTCTGTAGACTAAAAAAAGTGGTAAACCTGGGCCATTCTTGCTGTCTGGATCCAGACACAAGACTATTAAGATGTGGGATGTCAGTACTGGCATGTGCCTTATGACCCTCGTAAGTTTGCATAATCTTACCATTTCTTTTGCATCTTCACTGTTTATACCTTTTTGGATTAATGCTTTATGATATCTTAAATAATCTGAATTATTCTGGGCTTTAAAATAACTTCTTTATAAAGATAGTTTTCCTTTAGCTTTTGTTGTTGTTATAGTGATGTGAAAGTTATTTCTCTAGAATGCAGATTCTATAAAGAATCTGTAGAGCCAGTCGGTGTTTGAGGGGGAGATGCTGCTAGCTCACTGTATCTTTAAAAATTGTGTAATATCTCGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGCTAACTTGGGGAAATCCCGTCTCTACCAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAATAAAATAAAACAAATGTGTAATATCTCTTACGGAGAAAAAGCAGCATTCTTAGAGACCTGTTCACTGTTGAAGATGTTTGTTTCTCTGTTTCACTTTATTTATATGAATCCTTTTAACTGTTATACCTCCTTGCTCACATGATCTAGTTTATTTGGCTTATTTAGGAGCATCTGTATTTCCATAGAAAGATATGTCAATACTAGTAAGGGATTGTGGACATTCCTATGTGCCTAAAGGAGTTCCAAGGAGATCTGTGGATGTTTGTTTAGTAGTAGTTTTTATAATTTGGCATCCACATTTGTTTAGAGATTTTTTAGGTGCTAATGATACCTTGAAGTGATTGTCTCTCTGTAGGATATGACAGACATATGTGGAAGCATCTTCAAGAACTGATTAGAAAATGAAACTCTCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGAGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATCCTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGACCGGAGATGGCACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCAAAAAATAAATAAATAAATAAATAAAAAGAAAATGAAACTCTCCTCTAGTAGTATTCTGAGCGGAGTTCAGCTATACCATGTTGCTGTTAAGAAAAGATGATATATAATTAAAATAAAGCAGGCCAGGCGCAGTGGCTCACTCCTGCAATCCCAGCACTTTTGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAGGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCCGGGCGTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATA
Task1_train_23198
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?
Pathogenic; Lissencephaly due to LIS1 mutation
CCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTT
CCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTTATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTT
Task1_train_23199
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?
Pathogenic; Lissencephaly due to LIS1 mutation
GGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTG
GGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAATTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTG