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_15300
|
An alteration has been detected in TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; not provided
|
CGTTTCAAGTTCCCTTATTCAGCCTTTTAAGGATTCATAGTGGATTTGGAAAGCCCCCTCTCTTCTCCGCCAGCTGCCCCGAGAGGTGGGGGCAGCAGTGGGGCGGCACACAGTGCTGCTGTAGGAGGAGGAGGAGTTTCAGCCTGAGTCAACAACATATGCAAAAATCACAACGAATGAGAGGCGTGAGGTTTTCGGTGTAGCAGACATTTAATTCTTATTTGCCAACTCCTGAGCTAGGACCTGGGAACACAAAGTTAAATAGGACACGATTCTAGTCCTCTAGGCACCAACGGTCTTGGAAAGGAAGGCAGACAAGTAAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGT
|
CGTTTCAAGTTCCCTTATTCAGCCTTTTAAGGATTCATAGTGGATTTGGAAAGCCCCCTCTCTTCTCCGCCAGCTGCCCCGAGAGGTGGGGGCAGCAGTGGGGCGGCACACAGTGCTGCTGTAGGAGGAGGAGGAGTTTCAGCCTGAGTCAACAACATATGCAAAAATCACAACGAATGAGAGGCGTGAGGTTTTCGGTGTAGCAGACATTTAATTCTTATTTGCCAACTCCTGAGCTAGGACCTGGGAACACAAAGTTAAATAGGACACGATTCTAGTCCTCTAGGCACCAACGGTCTTGGAAAGGAAGGCAGACAAGTAAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCATAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGT
|
Task1_train_15301
|
The gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Autosomal recessive spinocerebellar ataxia 7
|
CCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAG
|
CCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCTGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAG
|
Task1_train_15302
|
A change on Chromosome 11 affects gene TPP1 (tripeptidyl peptidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Neuronal ceroid lipofuscinosis 2
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CCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAG
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CCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCTGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAG
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Task1_train_15303
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Given this variant in gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Neuronal ceroid lipofuscinosis 2
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GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAA
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GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCATGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAA
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Task1_train_15304
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The gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Autosomal recessive spinocerebellar ataxia 7
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GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAA
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GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCATGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAA
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Task1_train_15305
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With a mutation on Chromosome 11 in gene TPP1 (tripeptidyl peptidase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Neuronal ceroid lipofuscinosis 2
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GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAA
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GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCATGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAA
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Task1_train_15306
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This is a variant in TPP1 (tripeptidyl peptidase 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Inborn genetic diseases
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ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAG
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ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACGTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAG
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Task1_train_15307
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Located on Chromosome 11, this mutation impacts TPP1 (tripeptidyl peptidase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal recessive spinocerebellar ataxia 7
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ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAG
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ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACGTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAG
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Task1_train_15308
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A change on Chromosome 11 affects gene TPP1 (tripeptidyl peptidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Neuronal ceroid lipofuscinosis 2
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ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAG
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ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACGTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAG
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Task1_train_15309
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This mutation occurs in TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Neuronal ceroid lipofuscinosis 2
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ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAG
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ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACGTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAG
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Task1_train_15310
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This gene mutation involves TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Neuronal ceroid lipofuscinosis
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ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAG
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ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATTGAAGGTGGGGTGAAAAGATGACACAGGTTTCTGGCTTGGTTGGAAAAAGCATAGCATCATTTACCAAGAAGAAACGAGATGGAATTGTTTGGGGTTGGGAAGGTGGACGATGAAATGTTGAGTATCACGCATCTTACATTTGAGGTATCAATCATTATTGGATAGAAAGTCTTATTTAGTGAGATGGTAATGGTTGTAGATGTCAGTGATTTGTTCCAGGGGACAATGAGTAAACTGAGAAGAGCAAAAATCTACAAATGGAGCAATGAAGGTCAGCATTCCATGAAGAAGCAGAAATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACGTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAG
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Task1_train_15311
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Mutation context: Chromosome 11, Gene TPP1 (tripeptidyl peptidase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Neuronal ceroid lipofuscinosis
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AATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGT
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AATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACGCCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGT
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Task1_train_15312
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Assess the clinical impact of this variant on gene TPP1 (tripeptidyl peptidase 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; TPP1-related disorder
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AATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGT
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AATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACGCCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGT
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Task1_train_15313
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This variant affects the gene TPP1 (tripeptidyl peptidase 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Neuronal ceroid lipofuscinosis
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GTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGA
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GTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTTAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGA
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Task1_train_15314
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This is a variant in TPP1 (tripeptidyl peptidase 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Neuronal ceroid lipofuscinosis 2
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TGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAAC
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TGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTCGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAAC
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Task1_train_15315
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This alteration in TPP1 (tripeptidyl peptidase 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Neuronal ceroid lipofuscinosis 2
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CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCA
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CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCAACAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCA
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Task1_train_15316
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This mutation is located in gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Autosomal recessive spinocerebellar ataxia 7
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CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCA
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CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCAACAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCA
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Task1_train_15317
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A variant found in Chromosome 11 affects TPP1 (tripeptidyl peptidase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Neuronal ceroid lipofuscinosis 2
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CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCA
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CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCAACAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCA
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Task1_train_15318
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The gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Autosomal recessive spinocerebellar ataxia 7
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GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCA
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GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACAACTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCA
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Task1_train_15319
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The variant affects gene TPP1 (tripeptidyl peptidase 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Neuronal ceroid lipofuscinosis 2
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GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCA
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GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACAACTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCA
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Task1_train_15320
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Consider a variant on Chromosome 11 in gene TPP1 (tripeptidyl peptidase 1). Determine its clinical classification and disease relevance.
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Pathogenic; Neuronal ceroid lipofuscinosis 2
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GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCA
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GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACAACTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCA
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Task1_train_15321
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The following genetic variant occurs in TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not specified
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AAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCAAAAGGCACCGTATTGAGGAGAGCTGGGATCCGACACAGCCTGCACCAGCTCCGAGAGTCTTTCCACATTCTGCTGTCTCAGGGCAAAGGTGAGACTCAGCTCTTCCTCAGGGTCCGCACGGCCCAGGGACACCCAGCCTGGGGGCAGCCTGTAGGGTCAGGGGTCAGGGACATGGCTTTGGTTAGGGTGGAGATGGAAAATATTGGTCATGGAAGGTTCCAGATTAGGAGCTGAGACCTTGGGGAGGATCCTAGGAGCAGATA
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AAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACGGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCAAAAGGCACCGTATTGAGGAGAGCTGGGATCCGACACAGCCTGCACCAGCTCCGAGAGTCTTTCCACATTCTGCTGTCTCAGGGCAAAGGTGAGACTCAGCTCTTCCTCAGGGTCCGCACGGCCCAGGGACACCCAGCCTGGGGGCAGCCTGTAGGGTCAGGGGTCAGGGACATGGCTTTGGTTAGGGTGGAGATGGAAAATATTGGTCATGGAAGGTTCCAGATTAGGAGCTGAGACCTTGGGGAGGATCCTAGGAGCAGATA
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Task1_train_15322
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A change on Chromosome 11 affects gene TPP1 (tripeptidyl peptidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Neuronal ceroid lipofuscinosis 2
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GAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCAAAAGGCACCGTATTGAGGAGAGCTGGGATCCGACACAGCCTGCACCAGCTCCGAGAGTCTTTCCACATTCTGCTGTCTCAGGGCAAAGGTGAGACTCAGCTCTTCCTCAGGGTCCGCACGGCCCAGGGACACCCAGCCTGGGGGCAGCCTGTAGGGTCAGGGGTCAGGGACATGGCTTTGGTTAGGGTGGAGATGGAAAATATTGGTCATGGAAGGTTCCAGATTAGGAGCTGAGACCTTGGGGAGGATCCTAGGAGCAGATACAGATCACATGAGGTGAATGATAGGGGACTGAGGCTAGGAACATAGAGATGAAGCTATGGAGT
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GAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTTACCTGGAGGCAGGGAAGGTAGGGCGGAACTGGTGTCTTCCAGAGACAGACCAACACCCGGCCCCACTGTCACCTGAGAGAGACCAAGTGTAGCATTCATATTAATTGGTTAGGGCTTAGTATGTGGGTTCGGATGTCAGAGGGGAAATTTGTTACTGTAGGAGGTCAGAGTGTAGAGGTCAGGTCAGTGGTCCCTACTGGAAGGTCTGAGTTCAGATTATGAGTCAGAGACCAGGCTCAGGGATCACTGTGGAGTCAAAGCTCCCAGGCTGCAGAGGTGTAAGCATTGTCTAAGTTTAGGGTAGGAGGTCACCTGAGGCGAAGAGCAGGGTGAGACCCCGAGCGGCAGCCTTCATGAGCTCAGTGTTGACCCGCTGGATGTAGGCGCTGCTGAGGGAGTCCTCATCATCTCCATAGCTCACAGTATGCACATGTGGCAGGGCTGACTCATTACTGAGCAGCATGAGCCACTGCAGGAAGGGCTCCTGTCCCTCATGCCGGCCTGGATTTTTTTTTTTTTTTTTTTTGAGGGATGGGCACAAAGATAGTCACTGGGGGTTGTCAGGATCTCTCTCCAGCTTATAGCATTCCCTTGAGGGAGCAGGGATCAACACCCATCTCCCACCCCCTTCCCCACTGTCCAGTCCTCTTGGTAGTACCAGGGCTACTGTAGACCCAGGTGGAGATGTTGGCACCAGCACTCATCAGGTACTGCACATCTAGACTGGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACAGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCAAAAGGCACCGTATTGAGGAGAGCTGGGATCCGACACAGCCTGCACCAGCTCCGAGAGTCTTTCCACATTCTGCTGTCTCAGGGCAAAGGTGAGACTCAGCTCTTCCTCAGGGTCCGCACGGCCCAGGGACACCCAGCCTGGGGGCAGCCTGTAGGGTCAGGGGTCAGGGACATGGCTTTGGTTAGGGTGGAGATGGAAAATATTGGTCATGGAAGGTTCCAGATTAGGAGCTGAGACCTTGGGGAGGATCCTAGGAGCAGATACAGATCACATGAGGTGAATGATAGGGGACTGAGGCTAGGAACATAGAGATGAAGCTATGGAGT
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Task1_train_15323
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This mutation is located in gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Neuronal ceroid lipofuscinosis
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GGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCAAAAGGCACCGTATTGAGGAGAGCTGGGATCCGACACAGCCTGCACCAGCTCCGAGAGTCTTTCCACATTCTGCTGTCTCAGGGCAAAGGTGAGACTCAGCTCTTCCTCAGGGTCCGCACGGCCCAGGGACACCCAGCCTGGGGGCAGCCTGTAGGGTCAGGGGTCAGGGACATGGCTTTGGTTAGGGTGGAGATGGAAAATATTGGTCATGGAAGGTTCCAGATTAGGAGCTGAGACCTTGGGGAGGATCCTAGGAGCAGATACAGATCACATGAGGTGAATGATAGGGGACTGAGGCTAGGAACATAGAGATGAAGCTATGGAGTGCGTACTAGGAGCTGGCACGGGGGTGAGAGAAGCTAGGACCAGGACAGTGGGAGGCAGAACAGGGTATGGGGAAGGGGGCAGTCTGTGCTAAGTCAACTCACGTCCTCCGCTGGTCGGGCTCCGGGCTGTAACTGCATTTGCCAGAGAGGATGAGGGCAAAGAGCCCTAGGAGGCTGTAGGGGCAGCAGGTGGGTTTCAGTGGGAGCTACGTTGTCCTTGTGTTCCCACCCTCCCAATGTGTGCTCCCTCCAACGTGATCCCTTTCTCCCGAGCCCTCTCAATTTCTCACCAGGCTTGGAGTCCCATTCTGCCCTTCCGCGGATCTGCTGTCATGTGACGGATCACATGAGCTCTATATTCCACCACCACTACCCCTCTGCCTAGTAACTAGTGACGGTACTGGCTCCTCCCTTGCATGGGTGGTCCCAAATGCTAGGCAAGGGTGGGGCCGCCACCCGGATTCTCCCCTCTGGCCAGTCAAGCACTGAGTAAGCCCAGGGCTCCCCACCTGCGTCCTGAGCCTGGTCCCCTGGGAATCACCACAAGTGAGTGGGCTGTAGAGACCCACAGACTGGGGTTCTTCCTAGCTGTATGACATCAGCAAAATAACCTCTCAGAGCCTAGGTTTCTGCATTTACAATATGGAGACTTATATAAAAGTGATCTGCCTCGAAAGATTGCAGTGAAAAAATTTTTTTCCTCTTTTATCCTTTATGTCCCCATATTATCAATTTTGTCTTCATTTTACGACTACATTTATGAACAGAGTAAAGCTTTTGCAAGACCAGGATCCTTTTATTCAAATCAGTTTCCAGTTTTAAGTAGCTTCCCAGGAGATCTACAATCAGCTGGGGTCCTGTTTATTATGGGTTCCCAAGGTTTTCAAGGAAATCAACTTTGTTCTAAGGGCCATGGAGGAATCTTGCATCTTGTTTAGTGGGCTCAGGTGGATAAAATGGAAACGGACCTTTGCTTCTTCTAATGGTAACTCAAAGCCCACAAGGAGGTCTGAGTTTACTACTTCCAACTGGGGTCATTACAAGAGGATTTTCAATGAGAGTTAAAACCCTGAGGATTCAATTCCCTTCCAGTCTTCCTTTTTTTCCCCCCAAAAATCCATATGGAAGATGGTGTCAGCAGTGTCATTTTAACTTCCAAAACCATTAATCCAATACTCATGTGAAATCCCTTGTTCTGACCTCAATACTTTTTAGATAGATCCCTCTACTCCTGCTGTTGTCCTACAGGCCACTGGCTTCCATTAACCTATAGATTATATTCCCACACTGAAGATTATGGCACTTCACCTTTCTGTCCATCCCAACTCCTGCGATCATTTGACCTAGATGATCAAAATATCTAGGTAAAAGACCCATTCAACACCCTAACCTTCCATTTCTTCATCTCATTAAACCCAGTGAGCATTACCTTCACTTCACTTAAGCAAACCAGTCCCATGGCTGCATTGGGCTTGCTATCTCTCAAAACTGCTCTACCTTTGAAATTATAATTATAGAATGCTTTCTTAGACTATAACCTTCTGTTTTTTCAAGCCATTGTTTTTCCTCACTCCTATTAATCTGACTTCTCTCTGTCCATTGATCCCTCCAGTTTCCCACTAAGCGTGGATCCTAGAGCTGTATTTACTAGCATCATGCTCAGAAACATTTCCCTTTGACCACAACTTTTTTTTTTTTTTCTAATTTCCTCAATCTCATGAACTTCTCAA
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GGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGGATGATGTTGGGGGAAAACGGTGCAGTCCCCCCACTGTAGGGAGAAGTCAGGCTTGAGGAGATCTTATAGACTGTAATGCCCACCTTACAACTCACCCCACCCCCAGTCCCCAATGGCATCTAAACTTCCTCAGCCCCTGGATCTGTGTGCCCCAACCCCCATTCACCCCATAGGTGTTACCAAAGTCCACATGGGGGGCCAAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACCTTACAACATGGGTTTCCGTAGGTCCTCCCACATAGTGATGAAACTCAGCCCCAGGGAGCAGCAGCTCTGCTTGTCTGGAGGTCAGAGAACAGAGGTCAGAAAGCTCAAAACGGAACAGAAGAAGCTACCTCTGAGCATCCCTGGGCAGTCAGTCACTGTCTCCCCATGCATTAGCTCCCACCCACAAGCCCCAGCAAGCTCTCAACTCCCTCCCATCCATCTCACTGATGGGATGACTGGTGCCCTCCATGGAGCAATCATTTCCTCTCACCGGATGCTCAGCCAGCAAGTCAGAAAGTCCTGTGTGATCACAGAATGGCACTTCTGGGCTCCGGCTGCCAAGAGCCATTTTTGCACCGTGTGGAGGGTCAGTGGGGATGGCCTCACCAGATCAGCCACATTCTCTAGGGTCAGGTATTTTCCTGCAGGGATTCAGAAGAGGCACTTGCCCTCATTCATTGCTTTCCCAAACTCCCCCTTTTGGACCTCAACTATGAGACATCAGGACTTCCCAAAGCCTGGAACAGGGTAAAGGAGGGCTATGTGTGCAGGTGTAGGGTGTACTTGGGAAGCAGAGGAAGAAAAGGCTGGAGAGACTTGAAATGCCATGGCCAATAATATGGATTTACCCTAAAGGCCAGTAAGTTGCAAATGTCGCACCACAGCATGTATTGCCATGATCATGAAAATGAATGAGGTTAATACATATAAATTTTCCATTTTAATTTTAAGCTTATGTCCGGTAAATGTTTTCAAATCTTTCGGTACCAGTTATTCAGTTTAGCTCAAATTTGCATACTTGTTGATTTTAAGCTTAACACGATGGTGAGTCACTGTTTCCTGCCATGCACACTAGTGTCACACTGCCCCGTCCCCAGCCTCTGCAGTTCACAAGCACACACTCCCCCTGCTGTGAAGGGCTTTAACCAGGAGAAGGAACCAATCCATTTTGACTGTTGGAGAGACTGTTTTGAAGCAGAGTGGGGGAGTACAGTGAGGGGTGGGGTGGAGGGAGGAGACTGCAGATCAGCTGGGGAGCTGGGCAGTAGTCCAGGAGTGGGAATAAATAACGGAGTTGGTCGTAACAAAAGACGGCAAGAAGGAGATTAATCCAAAGGCTCTTTGGGAGTTAGAACTGGCAGCCTTAGTATGTGAACAAAAGAGGAAATTAGAATGGATTTGAGGGTAGGGGAAGGAACGTAAGTTGTACTAGATGCCTGGTAGCTAGTAAGTAGCAGAGTCAGAATTTGAGTTCGTATTTGATCATAAAGCCTGTATACTGAACCACATCCCCTTTTAGGTTTCTAGCCTGAGGAACACAAGTGTCTTGGCAGGCTCTGACATGATCGCCATCCCATGCCCAACCCAGCCCTGTGTCCCTCCACCGCATCCCACATCCTGTCCTCAGTCCCAAAAGGCACTGTATTGAGGAGAGCTGGGATCCGACACAGCCTGCACCAGCTCCGAGAGTCTTTCCACATTCTGCTGTCTCAGGGCAAAGGTGAGACTCAGCTCTTCCTCAGGGTCCGCACGGCCCAGGGACACCCAGCCTGGGGGCAGCCTGTAGGGTCAGGGGTCAGGGACATGGCTTTGGTTAGGGTGGAGATGGAAAATATTGGTCATGGAAGGTTCCAGATTAGGAGCTGAGACCTTGGGGAGGATCCTAGGAGCAGATACAGATCACATGAGGTGAATGATAGGGGACTGAGGCTAGGAACATAGAGATGAAGCTATGGAGTGCGTACTAGGAGCTGGCACGGGGGTGAGAGAAGCTAGGACCAGGACAGTGGGAGGCAGAACAGGGTATGGGGAAGGGGGCAGTCTGTGCTAAGTCAACTCACGTCCTCCGCTGGTCGGGCTCCGGGCTGTAACTGCATTTGCCAGAGAGGATGAGGGCAAAGAGCCCTAGGAGGCTGTAGGGGCAGCAGGTGGGTTTCAGTGGGAGCTACGTTGTCCTTGTGTTCCCACCCTCCCAATGTGTGCTCCCTCCAACGTGATCCCTTTCTCCCGAGCCCTCTCAATTTCTCACCAGGCTTGGAGTCCCATTCTGCCCTTCCGCGGATCTGCTGTCATGTGACGGATCACATGAGCTCTATATTCCACCACCACTACCCCTCTGCCTAGTAACTAGTGACGGTACTGGCTCCTCCCTTGCATGGGTGGTCCCAAATGCTAGGCAAGGGTGGGGCCGCCACCCGGATTCTCCCCTCTGGCCAGTCAAGCACTGAGTAAGCCCAGGGCTCCCCACCTGCGTCCTGAGCCTGGTCCCCTGGGAATCACCACAAGTGAGTGGGCTGTAGAGACCCACAGACTGGGGTTCTTCCTAGCTGTATGACATCAGCAAAATAACCTCTCAGAGCCTAGGTTTCTGCATTTACAATATGGAGACTTATATAAAAGTGATCTGCCTCGAAAGATTGCAGTGAAAAAATTTTTTTCCTCTTTTATCCTTTATGTCCCCATATTATCAATTTTGTCTTCATTTTACGACTACATTTATGAACAGAGTAAAGCTTTTGCAAGACCAGGATCCTTTTATTCAAATCAGTTTCCAGTTTTAAGTAGCTTCCCAGGAGATCTACAATCAGCTGGGGTCCTGTTTATTATGGGTTCCCAAGGTTTTCAAGGAAATCAACTTTGTTCTAAGGGCCATGGAGGAATCTTGCATCTTGTTTAGTGGGCTCAGGTGGATAAAATGGAAACGGACCTTTGCTTCTTCTAATGGTAACTCAAAGCCCACAAGGAGGTCTGAGTTTACTACTTCCAACTGGGGTCATTACAAGAGGATTTTCAATGAGAGTTAAAACCCTGAGGATTCAATTCCCTTCCAGTCTTCCTTTTTTTCCCCCCAAAAATCCATATGGAAGATGGTGTCAGCAGTGTCATTTTAACTTCCAAAACCATTAATCCAATACTCATGTGAAATCCCTTGTTCTGACCTCAATACTTTTTAGATAGATCCCTCTACTCCTGCTGTTGTCCTACAGGCCACTGGCTTCCATTAACCTATAGATTATATTCCCACACTGAAGATTATGGCACTTCACCTTTCTGTCCATCCCAACTCCTGCGATCATTTGACCTAGATGATCAAAATATCTAGGTAAAAGACCCATTCAACACCCTAACCTTCCATTTCTTCATCTCATTAAACCCAGTGAGCATTACCTTCACTTCACTTAAGCAAACCAGTCCCATGGCTGCATTGGGCTTGCTATCTCTCAAAACTGCTCTACCTTTGAAATTATAATTATAGAATGCTTTCTTAGACTATAACCTTCTGTTTTTTCAAGCCATTGTTTTTCCTCACTCCTATTAATCTGACTTCTCTCTGTCCATTGATCCCTCCAGTTTCCCACTAAGCGTGGATCCTAGAGCTGTATTTACTAGCATCATGCTCAGAAACATTTCCCTTTGACCACAACTTTTTTTTTTTTTTCTAATTTCCTCAATCTCATGAACTTCTCAA
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Task1_train_15324
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A variant was discovered on Chromosome 11, affecting DCHS1 (dachsous cadherin-related 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Van Maldergem syndrome 1
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TGGCCACGCCGGGCACCTTCGGGCACTTGGAAGTGGAAAGCTGGTGCCAGAAATACAGGGTCATACTCATCCTCTCCAGTCACTAGCACCGACACAGTGACAGAGGCTGAGAGATTCCCAGCATCAGCAGCACCCACCAGCAGCCGGAAGCTTTCTGTGTGCTCATAGTCAAAGGGCACTCGCGCACGCAACTCCCCTGTTGAGCTGTTCAGTGCAAATGCCTCACGGCCCTCAGGTCCTGGCCCAGCCTCCAACAGGCTGTAACGGAGCCTCCCAAAAGCCCCAGCATCCCCGTCGATTGCATGCAGAGTGGTCACGAGAGTGCCTGGAGGCTGATTCTCGGCCACGCTGGTGCTGAGTAAGTTCAGTGGGAAGGCTGGGCCATGATCATTCACATCCTGGACCTCAATTGTCACTGGTGCCAAAGCAAAGTGTGCACCAGCAGGGTCAGCAGCCTGTACTACAAGCTGATGTCGAGCCTGGGTCTCACAGTCCAGGGCATGGGCCAGTCGCAAGGTGCCTGAGCTCTCATCCAGCTCAAAGAGCCCTGATGGGTCGCCTGAGCTGACAGTGAAACGCACGAGGCCATGAGGGCCAGGGTCAGCGTCAGAGGCCTCTACATGCAGCAGCTCAGCTCCAACAGGTGTGTCCTCAGGTACTGTCACACGGTAGGATGCTCGGGTAAAGACAGGTGGGTTGTCATTGACATCTAGTACAGTGACAGTGACTGGCACGACTGAGCTTTGGGGTGGCTGCCCACGGTCAGCTGCAGCCACTGTTAGATTGTACTGTGTCAGGCTTTCAAAGTCTAGAGGTTCAAGCAACACCAGGCAGCCCAGTGCCCGGGGGCCTGGTCCAGCACTCTCCCCAGCCTCAGCCAGCCTGGGTTCCAGCTGGAAGACTCGGCCCCAGTTGCCACTGATGATGCTGTAGTCCACAGCGGCATGGCTGCGGCTTCCATCAGCATCTGTAGCCTCCAGGGTGAGCAGAGTGGAGCCAGGGGGCAGGTCTTCAGTCACAGCCACACGGTAGTGTGACAATGTGAAGCTCGGGGCGTGGTCGTTCTGGTCCTGCAGCTGCACGTGCACTGTGGCTCGTGCTGCCCGGCCTGGAGCCCCGTGGTCTCGTGCTTCCAGCACCACATCCACTGCTCCTGACCCGTCATGGCCCAAGGCCACTGTTCCCACTATTGTGAACAGGGTCCCTGAGATGAGAACGGAAGGGAAAGAAATATATTCAGCAAAGGCTGTGAGTGAACAGAAGAGTGACCCTTCAGGATCTAGGAAATGGTTTTGGAAGTCAGACTCAGGGAATGGCCTATCTGCTGGGAGACAAGGGGATGGCCTCAAGGATTCACAGCTTAGGGAACAGCTTCTAGACATGCAGTCAACAAGGGGCTTATAATGAAGACAGAGGGGAGGAAATGTCCTCCCTAGGCCAGAGATCCAGGAGTTAAAGAGTTTGAGTAACAAATTCAAGGAATGAGGTCAGATTACAGCCCAACACAGTCAAAGGCAAGGGGCAGATCCTGGGAAAGACGCACCATTGTTGGGGTCAACACTGAAGCCATCGGCAGGGGAAGCCAGGTGGTAGGAAATGTGACCGTTGGCACCTGAGTCCCGATCAGTGGCAGAGACGGAGAGAATGGCACTGCCTGGGGGTGTGTGCTCAAGCAGCATTACCTGAAGTGTGAGGAAAAGTGCTTATTGCCAGGCTTCCCATTTGCCCTGCTGTCCATGCAGCCTGTTCTGGAGCTTGGTTCCTTGTGCCCTGCTTGGCGTCTATTCCAACTTGGAGCCCCTACTCCTAAGTATTCGAATGGGAAATGCCCACCTTCTCCCCTTTCTGGGTACAGGATGCAAAACCAGGATGTAGTTCACAGGACTTGGGACCTTCCCATTCCCAGATCAGCTCCAACGTCCAGCCCACCTCAGCAGCTGCTAGCTCTGATACTTCCCTCCAACAGGAACAACCCAGGCCCAGGTGTAGGTGGATCCATGGGTGTCAATACCTGGTAGAGGCTCTGTGAGAAGGCAGGTGCATTGTCATTGACATCCTCCACAAGCACTGTGAGGTTGGCACGGCCCTCATGAGGCCCATCATGTGCCAGCAGCTGCAGCTGGTAGCGGTCACACTGCTCAAAGTCCAGGGGCCCCGTGAGGGAGACACGGCCTCCATAGCGGCCAACACTGAAGGGATCCTGGGGCCCAGATGGGCTTAGCACATACCACAGCACGGGTCCTGAGTCCACATCATTCCCTGTTACCTGTGCAATCTCTGAGCCCAATAACGCATCTGGAATACATGAGACTAGTGTGTTTGGCAATGGACACAGCCCCACCTTGAGCTGCAGGGTGGAGAAAAATGTCTCTCTGCCACCCTTTATGCCACCCACTTTACCCAGCCTCACCTTCTGACACTCGGAGCTCCCAGGGTTGGGGGATGGTGGGGCGATTGTCATTGGTGTCGATGACCATCACCGTCAAGGTAGCTGAGCCCACCAGGGCTGGGCTCCCTCTGTCTGTGGCCATCAGCACCAACCTGGACACAAAGCACAATCATCGGGTGGGACATGGCAATAAGGGGGAACTCTGGGCAGGGCCAGGAGGACTCAGGACAGAGCTTAGGGCTGGGGAATTCAGGATGTGGCCAAGGGACCAGATGAGTTCAAGGCAGGGCTTGAAACTGGACAGGCCCAAGATGGGGTCTTGGGTCCACAGGGCCAGGCCTCACCGTGTTTCAGCCCAGATCTCACGGTCCAGGATGGCTGTGGTAGTGATAGTGCCTGTGGTTGGGTCTACGTGGAACAATCCACGTGCCGGCTGGGATGCAGCCAGACTGTAGGAAATCTGTCCTCCAGAGCCTTGATCCAGGTCATCCGCCTCCACCTGGTGAGGGTAGGAGGCTGCTGGGACTGGTCTGGCCACAGACAAGTCTGACTAGCCCTGCTCCCCCGCCCAATCTTTCCATCACACCCCGCACCTGCAGCAGGGGCCCCTCCAAGGGCCGGGACTCAGGAAGGAAGGCCACATAATGGGGCCGCAGGAAACGGGGAGCATTGTCGTTGGCATCTTGCAGGGTCAGGGTCAGCACAGTGAAGGCAAAGGCTCCTCCACTCTCTGCCTGCAGCACCAGTCGCAGCCGTGGACTCACCTCGAAGTCTAGCCCCTCTGCTGAGCGAACTGTGATGGCACCTGGGCGAGATAGAATGCATCAGTGATAGCCCCCTTTGCTTGCCCTGGAGCCTCCTTCTCTAAGACCCCTTACTCAAGGACAGCCCTTCACCCATCAAAGGCTCCTCTGATGCAAAGAACCTGCTTCCCCAGTAGCCTGTCCTGCACAGAGCCCCTGCTCCTATTTCTTACCTGTACTAGGCTGGATGGAGAATGTCCCTTTCTCATTCCCACTGAGAATGCTGTAGGTGATGGGTCCATTTGTGCCTCCTGCATGGACGGCCCTGGGGGAGACAATAGGAGTCCCTGCAGAAAGAACGGTATTGTTGGACTGTGAGCGCGAGACTGGGAGAGTTTGGGGGACATTTTCAAAGCACAACCCCAGCCCATTTGGGAGTCTGAATCTGGAAGAAATGGCTGGGGACCCACCTGGGGGCGCATTCTCACGAATCGTAGCCTCACTGCTAGCCCGGGGAAAGCGGGGTCCACGCTCAGCTTCCCCCTGCAGTCCAACAATGATCACACCAGTGGCAGAGCGAGCTGGACGGCCAAGATCAGTGGCCACAATGAAGAGGACACGATCTCGGGGGCCTAGAGCTACAGGAGAGCGGGCCACGCGGATTTCACCAGTGTAAGAGTCCACAGTAGTGCCAGGAGGTGGTGTGCCTGCCAGCCGGTACAGAATGGAAGCATTGGCACCAGCATCACGATCTTCAGCTCTCAGTGTGGCCAGAGCCAGGGTTGGGGTACTGAAGCTGGGGCCTGGGCGGGGCAGACGTAGGCGCAGAGGACTGGTGGGGAAGGTGGGTGCATGGTCATTGACATCGCGCACCGTGATGGTGACAGACACTGTGGTGCTTAGGGGCCCAGCAGCTGCACCATCCACTGCACTCACAGAAAAGGTGTAGCTGGGACACTGTTCT
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TGGCCACGCCGGGCACCTTCGGGCACTTGGAAGTGGAAAGCTGGTGCCAGAAATACAGGGTCATACTCATCCTCTCCAGTCACTAGCACCGACACAGTGACAGAGGCTGAGAGATTCCCAGCATCAGCAGCACCCACCAGCAGCCGGAAGCTTTCTGTGTGCTCATAGTCAAAGGGCACTCGCGCACGCAACTCCCCTGTTGAGCTGTTCAGTGCAAATGCCTCACGGCCCTCAGGTCCTGGCCCAGCCTCCAACAGGCTGTAACGGAGCCTCCCAAAAGCCCCAGCATCCCCGTCGATTGCATGCAGAGTGGTCACGAGAGTGCCTGGAGGCTGATTCTCGGCCACGCTGGTGCTGAGTAAGTTCAGTGGGAAGGCTGGGCCATGATCATTCACATCCTGGACCTCAATTGTCACTGGTGCCAAAGCAAAGTGTGCACCAGCAGGGTCAGCAGCCTGTACTACAAGCTGATGTCGAGCCTGGGTCTCACAGTCCAGGGCATGGGCCAGTCGCAAGGTGCCTGAGCTCTCATCCAGCTCAAAGAGCCCTGATGGGTCGCCTGAGCTGACAGTGAAACGCACGAGGCCATGAGGGCCAGGGTCAGCGTCAGAGGCCTCTACATGCAGCAGCTCAGCTCCAACAGGTGTGTCCTCAGGTACTGTCACACGGTAGGATGCTCGGGTAAAGACAGGTGGGTTGTCATTGACATCTAGTACAGTGACAGTGACTGGCACGACTGAGCTTTGGGGTGGCTGCCCACGGTCAGCTGCAGCCACTGTTAGATTGTACTGTGTCAGGCTTTCAAAGTCTAGAGGTTCAAGCAACACCAGGCAGCCCAGTGCCCGGGGGCCTGGTCCAGCACTCTCCCCAGCCTCAGCCAGCCTGGGTTCCAGCTGGAAGACTCGGCCCCAGTTGCCACTGATGATGCTGTAGTCCACAGCGGCATGGCTGCGGCTTCCATCAGCATCTGTAGCCTCCAGGGTGAGCAGAGTGGAGCCAGGGGGCAGGTCTTCAGTCACAGCCACACGGTAGTGTGACAATGTGAAGCTCGGGGCGTGGTCGTTCTGGTCCTGCAGCTGCACGTGCACTGTGGCTCGTGCTGCCCGGCCTGGAGCCCCGTGGTCTCGTGCTTCCAGCACCACATCCACTGCTCCTGACCCGTCATGGCCCAAGGCCACTGTTCCCACTATTGTGAACAGGGTCCCTGAGATGAGAACGGAAGGGAAAGAAATATATTCAGCAAAGGCTGTGAGTGAACAGAAGAGTGACCCTTCAGGATCTAGGAAATGGTTTTGGAAGTCAGACTCAGGGAATGGCCTATCTGCTGGGAGACAAGGGGATGGCCTCAAGGATTCACAGCTTAGGGAACAGCTTCTAGACATGCAGTCAACAAGGGGCTTATAATGAAGACAGAGGGGAGGAAATGTCCTCCCTAGGCCAGAGATCCAGGAGTTAAAGAGTTTGAGTAACAAATTCAAGGAATGAGGTCAGATTACAGCCCAACACAGTCAAAGGCAAGGGGCAGATCCTGGGAAAGACGCACCATTGTTGGGGTCAACACTGAAGCCATCGGCAGGGGAAGCCAGGTGGTAGGAAATGTGACCGTTGGCACCTGAGTCCCGATCAGTGGCAGAGACGGAGAGAATGGCACTGCCTGGGGGTGTGTGCTCAAGCAGCATTACCTGAAGTGTGAGGAAAAGTGCTTATTGCCAGGCTTCCCATTTGCCCTGCTGTCCATGCAGCCTGTTCTGGAGCTTGGTTCCTTGTGCCCTGCTTGGCGTCTATTCCAACTTGGAGCCCCTACTCCTAAGTATTCGAATGGGAAATGCCCACCTTCTCCCCTTTCTGGGTACAGGATGCAAAACCAGGATGTAGTTCACAGGACTTGGGACCTTCCCATTCCCAGATCAGCTCCAACGTCCAGCCCACCTCAGCAGCTGCTAGCTCTGATACTTCCCTCCAACAGGAACAACCCAGGCCCAGGTGTAGGTGGATCCATGGGTGTCAATACCTGGTAGAGGCTCTGTGAGAAGGCAGGTGCATTGTCAATGACATCCTCCACAAGCACTGTGAGGTTGGCACGGCCCTCATGAGGCCCATCATGTGCCAGCAGCTGCAGCTGGTAGCGGTCACACTGCTCAAAGTCCAGGGGCCCCGTGAGGGAGACACGGCCTCCATAGCGGCCAACACTGAAGGGATCCTGGGGCCCAGATGGGCTTAGCACATACCACAGCACGGGTCCTGAGTCCACATCATTCCCTGTTACCTGTGCAATCTCTGAGCCCAATAACGCATCTGGAATACATGAGACTAGTGTGTTTGGCAATGGACACAGCCCCACCTTGAGCTGCAGGGTGGAGAAAAATGTCTCTCTGCCACCCTTTATGCCACCCACTTTACCCAGCCTCACCTTCTGACACTCGGAGCTCCCAGGGTTGGGGGATGGTGGGGCGATTGTCATTGGTGTCGATGACCATCACCGTCAAGGTAGCTGAGCCCACCAGGGCTGGGCTCCCTCTGTCTGTGGCCATCAGCACCAACCTGGACACAAAGCACAATCATCGGGTGGGACATGGCAATAAGGGGGAACTCTGGGCAGGGCCAGGAGGACTCAGGACAGAGCTTAGGGCTGGGGAATTCAGGATGTGGCCAAGGGACCAGATGAGTTCAAGGCAGGGCTTGAAACTGGACAGGCCCAAGATGGGGTCTTGGGTCCACAGGGCCAGGCCTCACCGTGTTTCAGCCCAGATCTCACGGTCCAGGATGGCTGTGGTAGTGATAGTGCCTGTGGTTGGGTCTACGTGGAACAATCCACGTGCCGGCTGGGATGCAGCCAGACTGTAGGAAATCTGTCCTCCAGAGCCTTGATCCAGGTCATCCGCCTCCACCTGGTGAGGGTAGGAGGCTGCTGGGACTGGTCTGGCCACAGACAAGTCTGACTAGCCCTGCTCCCCCGCCCAATCTTTCCATCACACCCCGCACCTGCAGCAGGGGCCCCTCCAAGGGCCGGGACTCAGGAAGGAAGGCCACATAATGGGGCCGCAGGAAACGGGGAGCATTGTCGTTGGCATCTTGCAGGGTCAGGGTCAGCACAGTGAAGGCAAAGGCTCCTCCACTCTCTGCCTGCAGCACCAGTCGCAGCCGTGGACTCACCTCGAAGTCTAGCCCCTCTGCTGAGCGAACTGTGATGGCACCTGGGCGAGATAGAATGCATCAGTGATAGCCCCCTTTGCTTGCCCTGGAGCCTCCTTCTCTAAGACCCCTTACTCAAGGACAGCCCTTCACCCATCAAAGGCTCCTCTGATGCAAAGAACCTGCTTCCCCAGTAGCCTGTCCTGCACAGAGCCCCTGCTCCTATTTCTTACCTGTACTAGGCTGGATGGAGAATGTCCCTTTCTCATTCCCACTGAGAATGCTGTAGGTGATGGGTCCATTTGTGCCTCCTGCATGGACGGCCCTGGGGGAGACAATAGGAGTCCCTGCAGAAAGAACGGTATTGTTGGACTGTGAGCGCGAGACTGGGAGAGTTTGGGGGACATTTTCAAAGCACAACCCCAGCCCATTTGGGAGTCTGAATCTGGAAGAAATGGCTGGGGACCCACCTGGGGGCGCATTCTCACGAATCGTAGCCTCACTGCTAGCCCGGGGAAAGCGGGGTCCACGCTCAGCTTCCCCCTGCAGTCCAACAATGATCACACCAGTGGCAGAGCGAGCTGGACGGCCAAGATCAGTGGCCACAATGAAGAGGACACGATCTCGGGGGCCTAGAGCTACAGGAGAGCGGGCCACGCGGATTTCACCAGTGTAAGAGTCCACAGTAGTGCCAGGAGGTGGTGTGCCTGCCAGCCGGTACAGAATGGAAGCATTGGCACCAGCATCACGATCTTCAGCTCTCAGTGTGGCCAGAGCCAGGGTTGGGGTACTGAAGCTGGGGCCTGGGCGGGGCAGACGTAGGCGCAGAGGACTGGTGGGGAAGGTGGGTGCATGGTCATTGACATCGCGCACCGTGATGGTGACAGACACTGTGGTGCTTAGGGGCCCAGCAGCTGCACCATCCACTGCACTCACAGAAAAGGTGTAGCTGGGACACTGTTCT
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Task1_train_15325
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The variant affects gene AMPD3 (adenosine monophosphate deaminase 3), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Erythrocyte AMP deaminase deficiency
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AAAGTGTGGGGCTTGGTGAGAAGCGGTGGGCGTACACCTGGCAGGACCTGGACAGAGACTGAAGGAGGCACTGGGGGGAGTCTAGGATGCCTCCCAGGTGCCTGGCTTTGCAGGAGCATGGATGATGTGCTGTCCGAAGGTTGCTGCCAGCAATGGAGGAAGAGCAGGTATGGGGAGGAGGAGGAAGAGCAGGAGGAGGAGACAACGCATTTTGCACCCGAGGCTGTGGGAGATGCAGTGGTGAGGCCCTGCTTCAGCTGGATAGAGCTCTGAAGAGGGGCTGAAATTATCCGCATGCCAGGCCCCAGAAAGTTCGGGTGAAGTATGGAGCTAGTGAGCACAGAGCAGAGCTCAAGGTCCTCCCTGGCCCCCCAAACCCGTCTAGGGAGTGCTTAGGGTCATAGCAGGGACCCTGTCATTTCCTTTGACACACAGGGCTCTGTGACACGGAAGATTCTGGCCAAGCTGCCTTGCTCCTCTGGGCCTTTGCTGCCCCCATAGGAACAGGAGAGGCCAGCAGACCTGGCTGGGGTCTGGGGCGTGGGCTGGGAGCCCTCCAGTTTGGGCCAGTTGTGGATTAAGGGGGACAGTCTCTTTCTCCCATCTGCTATTCAGAGGCCCCTTTGCAAAGCACTGCCGTGGCCTGGTAGCAAGCCTCCCCTGTGCGCTGAGAGCCCGTACCCTCCATGCATGTGTTCTTGGTTGGGGATGACCCCTGGGATCAGCCAGAAGGCTCCAGTGACTCAGGAGCAGCCCCCCAGGGGTCCCAGCCAAGGTAGAACTGCAGTGGAAGGGTGGGGGTTTCCTGAGGCTACTCAGGCCCATCTCAGAGGGCAGCTCCCAGTGGGGATTGGAGAGCAGAGCTGCCTCCCAGGAGCCATGGCTTAGCCCAGCAAGGACCCTCTTATCTGTCTGTGAGGCAGCTGGCGGGTTTCTCCTGGCCACACCTGGACATGCCCTAGAGTATTCTCTACCTACCGCCCCAAAGAGTGCAGACCCAGAGCCCAGAACCTGTTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCGGGGTTCAAGTGATTCTTCTGCCTTAGCCTCCTGAGTAGCTGAGATTACAGGTGCACGCCACCATGCCCAGCTAATTTTTGTATTTTTTTTTACTAGAGACGGAGTTTCACCATGTTGGGCAGGCTGGCCTCGAACTCCTGACCTCGTGATCTGCCCGTCTCCTCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCATGTCTGGCCAAACCTGGTTTCTTGAGCAACTTTCTTAATTGCTTTGGCCCTGGTTTGCTCAATTGTAAAATGGGGCTGGCAGCCAACCCCTCCCTCCTGGGTTGCTCTGAATATGAATTAACTGACGTGAGTAAAGTGCTTTGAGCAGGGCTTGATGAGTGATGTGTACTAGGACCCTTTTCCCTCATCGCTTGTCGCTGCTGCTGATGGCAATGGCCACTCCTCCCTGCAGGCTGGCCTCGGCATAGCAGAGGGGCAGGTGGTGGCCATGGCTGCTTTGCCCTTCACCTGGCTTGGCAGTTTCCTCCACTGTCACCACCACCACACAGGGGCTTGGCACTCTCCTGTCTCACCTCCAGAGTACCTATGGAAGCTCCGAAGGGGCAGACCTTGGTGTTGTACCCACTTTTCATCCCTGGGAGGAATATGGCCTCAGGCAGGCCAAGGGGTCCCCAGCTGAGGTGTGAACCTGAGGGGCCCAGACCCACAGGCCTCTGGCAGCTATGAGCTCTGGGAGGCTGAACCGAGGCTGAGTCCTGGTCCTGCCTTGGCCTGGTGCTCAGGACCTCTCCTGCCCAGGTGACGGGGTTTGACAGCGTGGATGATGAGTCCAAGCACAGCGACCACATGTTTTCCGACAAGAGCCCAAACCCGGACGTCTGGACCAGTGAGCAGAACCCACCCTACAGCTACTACCTGTACTACATGTATGCCAACATCATGGTGCTCAACAACCTCCGCAGGTGCGTGAGGCCTGCCCTCGCACATGCTTGGGTTCATGTGTTAGTACATGCACGCATGCACACACATGCACACACACATGCATGTGATCCTTGTGTCCGTGTGCACCTGAACCAACATGCATGTCCATGTGCCCACACACCTCAAAACACACAGCACTTTCCAGCCTGCTATATGAGGCATGTCTCCACATGATCACACACATGCAAACATGCCCACCATAACACACATGCCAGTACAGACATATGTCATGTACAGTATGCAATGCAGCCACAGTCCACACGTGTCCACACATTTATATGTACACACACCAGGGCACACTCCACGTGTACCTGTACATCCCTGAGATAATGGAAGCATAGGACATGCTATCACACATGCACGGTCACTTACTGCCACACCAACAATGTCCACACGTGCATATTTTCGTTCAGCAAATCACTGCATCTGGCATGCGATAGGCATTGCCCTGGGCACTGGACAAATAACGGGGAACAAAACAGACTAAATCCATGCATGCCCTTACAGGCAGAGGCTCCTACCAATACGCACACAGACGAGGCACACGTGGCCAGGAGTTAGCTGCCCAGGGCAGCAGGACACTGAGCCATTCCCTTCCCTACAAGTCTTGCATCCCACTTTCCCCTGCTGGGCCCTGGGGTCTCTCTAGCTCAGCCTAAACTGGTGCTAGTTGGTGGGTGTGGAGGTTTCGAATGGGGTCCTGATTGAAAGAAATGGCCTGGCAGGGTGGAGGCAGTCCTGGGCTGAGCTTTTGGAGATGGGGGCTCTGGTTCTGGCTTTGCTACTGACCTGTTCAGTGGCATGGAACATAGACTTCACTCTCCGGGCCTTGGTTTGCCCATTTCCATAACACAGAGGTCAGACTCTGTGGTTTCTCATGGCCTTCCCTGCTCTGGAGTTCTACGAATGCGGGACACAAGGCCAGGAGAGGAATTCAGGAGAGTGGCTGGAGGGCACAGCAGGGTCTCTTTCTACTGCGAGGCCCACTCTCTGCCCGTAGAGGTGATGCTTCTTGGTTCTAAGGGGCCCCAGGGCCTGGACCTCTGCATTTTAGGAGGGGTAGTTTCCAGGGTGCACTGGGTCAGCACAGCTGACCATGGGTGGTCATTCCCCCCGGAGCTGGCCCTGAGCTGTGGCTGCAGGCCCCAGGCAGAGCCAACTGGGGGGGGCCTTCCTGATTCGGAAACCCCTTCTCTTACAGGGAGCGCGGCCTGAGCACGTTCCTGTTCCGGCCGCACTGTGGGGAAGCCGGCTCCATCACCCACCTGGTGTCTGCCTTCCTCACTGCTGACAACATTTCCCACGGGCTGCTCCTCAAGAAGGTAACCAGGTCACTCTCGGGAGCCCGTCCTGAGTGACTGCCCTGCCCTGGGCTCCTGGGAGGCTCAACCAGTGAGGCCAGAAGGCTGGGCCCTCTTCTGGGCTGGGATGTCTGTCCTTATCTTGGTTTTATTTTTAATTATGAAAGTAATATAATCAAACTCATCACAATTTTGATTTTCCAAAAACTGGAGAAATGGAAAAAAGCCAGCCCTTATGCTATTACATTAATAGAAATAGCCATTATTAGCTTTTTAGTATATCTAATTTCCATCTTTTATCCACAGCATATTTTTAATGTGTTTATTATCATAATGAACACAGAATTTGGTTCCTGCCTCGTCCCTTACTGTTGTATGACAAGCATTTTTTGATGCTGCAACGTAATATCTATGCTCCTTTTTCCAAAGGCTGTTGTTGGATGAAGGGTCTGCCACTTTGTCTGTAATTGACTCAACCAGTCCACACTAGTTGGGCACAGAGTCCATCCACCTTTTCACTGGTGTACCCTTGAGCTCTGTGCATACAGTCTTCTCCGTATTTTGGATCACTTTCCATTGGCACGATGTTTGATCAAAATGCTCCCTTTCCCTGATCCCGGTGAGGTGTAACCATGGGTCACATTTTTGGGTGGGGTGGGTGCTACAGTAGAAAACCACTCTATCCTGGGCAGGTCCACCCCTCCCATCCCTTCAGGGATCATC
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AAAGTGTGGGGCTTGGTGAGAAGCGGTGGGCGTACACCTGGCAGGACCTGGACAGAGACTGAAGGAGGCACTGGGGGGAGTCTAGGATGCCTCCCAGGTGCCTGGCTTTGCAGGAGCATGGATGATGTGCTGTCCGAAGGTTGCTGCCAGCAATGGAGGAAGAGCAGGTATGGGGAGGAGGAGGAAGAGCAGGAGGAGGAGACAACGCATTTTGCACCCGAGGCTGTGGGAGATGCAGTGGTGAGGCCCTGCTTCAGCTGGATAGAGCTCTGAAGAGGGGCTGAAATTATCCGCATGCCAGGCCCCAGAAAGTTCGGGTGAAGTATGGAGCTAGTGAGCACAGAGCAGAGCTCAAGGTCCTCCCTGGCCCCCCAAACCCGTCTAGGGAGTGCTTAGGGTCATAGCAGGGACCCTGTCATTTCCTTTGACACACAGGGCTCTGTGACACGGAAGATTCTGGCCAAGCTGCCTTGCTCCTCTGGGCCTTTGCTGCCCCCATAGGAACAGGAGAGGCCAGCAGACCTGGCTGGGGTCTGGGGCGTGGGCTGGGAGCCCTCCAGTTTGGGCCAGTTGTGGATTAAGGGGGACAGTCTCTTTCTCCCATCTGCTATTCAGAGGCCCCTTTGCAAAGCACTGCCGTGGCCTGGTAGCAAGCCTCCCCTGTGCGCTGAGAGCCCGTACCCTCCATGCATGTGTTCTTGGTTGGGGATGACCCCTGGGATCAGCCAGAAGGCTCCAGTGACTCAGGAGCAGCCCCCCAGGGGTCCCAGCCAAGGTAGAACTGCAGTGGAAGGGTGGGGGTTTCCTGAGGCTACTCAGGCCCATCTCAGAGGGCAGCTCCCAGTGGGGATTGGAGAGCAGAGCTGCCTCCCAGGAGCCATGGCTTAGCCCAGCAAGGACCCTCTTATCTGTCTGTGAGGCAGCTGGCGGGTTTCTCCTGGCCACACCTGGACATGCCCTAGAGTATTCTCTACCTACCGCCCCAAAGAGTGCAGACCCAGAGCCCAGAACCTGTTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCGGGGTTCAAGTGATTCTTCTGCCTTAGCCTCCTGAGTAGCTGAGATTACAGGTGCACGCCACCATGCCCAGCTAATTTTTGTATTTTTTTTTACTAGAGACGGAGTTTCACCATGTTGGGCAGGCTGGCCTCGAACTCCTGACCTCGTGATCTGCCCGTCTCCTCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCATGTCTGGCCAAACCTGGTTTCTTGAGCAACTTTCTTAATTGCTTTGGCCCTGGTTTGCTCAATTGTAAAATGGGGCTGGCAGCCAACCCCTCCCTCCTGGGTTGCTCTGAATATGAATTAACTGACGTGAGTAAAGTGCTTTGAGCAGGGCTTGATGAGTGATGTGTACTAGGACCCTTTTCCCTCATCGCTTGTCGCTGCTGCTGATGGCAATGGCCACTCCTCCCTGCAGGCTGGCCTCGGCATAGCAGAGGGGCAGGTGGTGGCCATGGCTGCTTTGCCCTTCACCTGGCTTGGCAGTTTCCTCCACTGTCACCACCACCACACAGGGGCTTGGCACTCTCCTGTCTCACCTCCAGAGTACCTATGGAAGCTCCGAAGGGGCAGACCTTGGTGTTGTACCCACTTTTCATCCCTGGGAGGAATATGGCCTCAGGCAGGCCAAGGGGTCCCCAGCTGAGGTGTGAACCTGAGGGGCCCAGACCCACAGGCCTCTGGCAGCTATGAGCTCTGGGAGGCTGAACCGAGGCTGAGTCCTGGTCCTGCCTTGGCCTGGTGCTCAGGACCTCTCCTGCCCAGGTGACGGGGTTTGACAGCGTGGATGATGAGTCCAAGCACAGCGACCACATGTTTTCCGACAAGAGCCCAAACCCGGACGTCTGGACCAGTGAGCAGAACCCACCCTACAGCTACTACCTGTACTACATGTATGCCAACATCATGGTGCTCAACAACCTCTGCAGGTGCGTGAGGCCTGCCCTCGCACATGCTTGGGTTCATGTGTTAGTACATGCACGCATGCACACACATGCACACACACATGCATGTGATCCTTGTGTCCGTGTGCACCTGAACCAACATGCATGTCCATGTGCCCACACACCTCAAAACACACAGCACTTTCCAGCCTGCTATATGAGGCATGTCTCCACATGATCACACACATGCAAACATGCCCACCATAACACACATGCCAGTACAGACATATGTCATGTACAGTATGCAATGCAGCCACAGTCCACACGTGTCCACACATTTATATGTACACACACCAGGGCACACTCCACGTGTACCTGTACATCCCTGAGATAATGGAAGCATAGGACATGCTATCACACATGCACGGTCACTTACTGCCACACCAACAATGTCCACACGTGCATATTTTCGTTCAGCAAATCACTGCATCTGGCATGCGATAGGCATTGCCCTGGGCACTGGACAAATAACGGGGAACAAAACAGACTAAATCCATGCATGCCCTTACAGGCAGAGGCTCCTACCAATACGCACACAGACGAGGCACACGTGGCCAGGAGTTAGCTGCCCAGGGCAGCAGGACACTGAGCCATTCCCTTCCCTACAAGTCTTGCATCCCACTTTCCCCTGCTGGGCCCTGGGGTCTCTCTAGCTCAGCCTAAACTGGTGCTAGTTGGTGGGTGTGGAGGTTTCGAATGGGGTCCTGATTGAAAGAAATGGCCTGGCAGGGTGGAGGCAGTCCTGGGCTGAGCTTTTGGAGATGGGGGCTCTGGTTCTGGCTTTGCTACTGACCTGTTCAGTGGCATGGAACATAGACTTCACTCTCCGGGCCTTGGTTTGCCCATTTCCATAACACAGAGGTCAGACTCTGTGGTTTCTCATGGCCTTCCCTGCTCTGGAGTTCTACGAATGCGGGACACAAGGCCAGGAGAGGAATTCAGGAGAGTGGCTGGAGGGCACAGCAGGGTCTCTTTCTACTGCGAGGCCCACTCTCTGCCCGTAGAGGTGATGCTTCTTGGTTCTAAGGGGCCCCAGGGCCTGGACCTCTGCATTTTAGGAGGGGTAGTTTCCAGGGTGCACTGGGTCAGCACAGCTGACCATGGGTGGTCATTCCCCCCGGAGCTGGCCCTGAGCTGTGGCTGCAGGCCCCAGGCAGAGCCAACTGGGGGGGGCCTTCCTGATTCGGAAACCCCTTCTCTTACAGGGAGCGCGGCCTGAGCACGTTCCTGTTCCGGCCGCACTGTGGGGAAGCCGGCTCCATCACCCACCTGGTGTCTGCCTTCCTCACTGCTGACAACATTTCCCACGGGCTGCTCCTCAAGAAGGTAACCAGGTCACTCTCGGGAGCCCGTCCTGAGTGACTGCCCTGCCCTGGGCTCCTGGGAGGCTCAACCAGTGAGGCCAGAAGGCTGGGCCCTCTTCTGGGCTGGGATGTCTGTCCTTATCTTGGTTTTATTTTTAATTATGAAAGTAATATAATCAAACTCATCACAATTTTGATTTTCCAAAAACTGGAGAAATGGAAAAAAGCCAGCCCTTATGCTATTACATTAATAGAAATAGCCATTATTAGCTTTTTAGTATATCTAATTTCCATCTTTTATCCACAGCATATTTTTAATGTGTTTATTATCATAATGAACACAGAATTTGGTTCCTGCCTCGTCCCTTACTGTTGTATGACAAGCATTTTTTGATGCTGCAACGTAATATCTATGCTCCTTTTTCCAAAGGCTGTTGTTGGATGAAGGGTCTGCCACTTTGTCTGTAATTGACTCAACCAGTCCACACTAGTTGGGCACAGAGTCCATCCACCTTTTCACTGGTGTACCCTTGAGCTCTGTGCATACAGTCTTCTCCGTATTTTGGATCACTTTCCATTGGCACGATGTTTGATCAAAATGCTCCCTTTCCCTGATCCCGGTGAGGTGTAACCATGGGTCACATTTTTGGGTGGGGTGGGTGCTACAGTAGAAAACCACTCTATCCTGGGCAGGTCCACCCCTCCCATCCCTTCAGGGATCATC
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Task1_train_15326
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Mutation context: Chromosome 11, Gene TEAD1 (TEA domain transcription factor 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Helicoid peripapillary chorioretinal degeneration
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GGCAGAGGGACGCAGGGCATTCGTAGAACAGGGGAATTTGACCTAGTTCAGGCGGAAGCTGAGGAAGGCTTCCTGAGGAAGAAACAGTTGAGAGCTCTCTGCGTGGTGAATATGCAACCATGACCAAACGAACCTCTCAGCTCCTTCCCTGTCAAAGAGCACCCACTCCTAGAGGTCGTATGATATCATATGAGACAATCTGTGTAAAGCATTTGATACTGAGTAGATGGATAGTAAACACTCAATATTTGTTGGCTATTCTGATGTGAATTTTCATTCATTCAGCAATTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGGTAGAGTCTTGCTCTGTTGCCCAGGCTAAAGTGCAGTGGTGCAATCTTGGCTCGCTGCAACCTCTGCCTCCCGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCGCCACTGTGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACAGTGTTGGCCAGGCGGGTCTCGAACTCCTGACCTTGTGATCCACCTGCATTGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCAGCAAATATTTATTAAATGACTTGTGTGCCATGTCCTCAAGCTAGTTGCTGGGAAACAGGGCCCCTGTTCCTTAGGAACTTATATTCCACTGGGTGAGATGGATATTAGAAAAAAAATTGTACACGCCAGTATGTGTTTACCAACTGTATAGCATGCTGTGATGGGAAAATGAGATGTACTGCAAGACTATTCTTTAAGTAGGGACTGGAAGCTTGGATACCTTAAGAGCAAGGGAAACTAAACAGGGGAAACAGCCTGATACTTAGAGGGAAATTAGGCCTATAACAAACTGGAAGAGGCTCTCAAGTTCAAAATGTTTTCATTCAAACAATGCTTTGGCGTAATCAAACACAAAAGTAACAGAGTCACTGACGCGTTTCATGTTTTTGCTTGATTAGATTTGCTCTTAGAAAGTTCCTTCTGAGAATAGCATGGGGAATTGAGACCAGAGTGAGGACAGAAAGGAGTCAGGGTCTGTGTGGTGTGGAGGGAGCTGCAATGATTTGGGCTGGAGAACTCAAAATACGAGGGATAATTAGAGGGATTCAAGAGACTGGAGGGGAAGCATGAGTATTTCACAATACATTTTGAAAGATAAAGCCCATGTCTATGGAAAGAATGTCATTCCACAGGATTCTACCTATCCCACTGTTCCTTGATTCAGCAGATACTTTTCTGGGTCTAGGCACTACTGGTTAACATAGTGGTGAGGGAGGCACTCCTGCAGCTTCTCTGTCCTTGGCTATTGTGAAACAAGATTTAGCAGAAGTTTAAGACTAGGATGGGAAAAAGAGTGGATTTTAAATGTTCTCATCACAAAGAAGTACGTGAAGTGCTTGGTATGTTAGCCTGATGTAATCGTCCCACAAGGTATATACATCTATCATCACATTGTAGCCCATAAATATATGTACTGCAAGACTTTATTCTTTTAGGTAGGGACTGGAATTATTACTTGTCAATTTAAAAATTCAGATAAAAAATAAGACAATTTCTTAGAGTAAATGATTGCCTTGCGGGACAGAATTAAAGAGAATTCTTTGTTGTAAAGAAATCAGCCCCCTAAAAAACAAAAACACAAATGTGCTAATTTTTGTGGTCCTTTCTTGGGCATAGATTATGAGTGACCCTATCTAGAAGGTATTTCTTACTTATGATAACCACGTTTAGATGGGCTTCAGGTCATAGTTGTAGTGTTCTGAATCTGTGTTAGAGGACACAGAGTGAGGCTGAGCAAATCTCTCTTGGACTTAAGACTTGTTCTTCTCCAATTAAGTCATAGTCGTCATACACAGATGGAATATGTTTTCATCCTTTTGGTATTATATACTTTTTTTTTATCTTAACAGGTGGTAACAAACAGGGATACACAAGAAACTCTACTCTGCATGGCCTGTGTGTTTGAAGTTTCAAATAGTGAACACGGAGCACAACATCATATTTACAGGCTTGTAAAGGACTGAACATGGTTATTTATATATATAGATATCTGTATATACACACACACATATGTGCACACACACACTCTCTCTCCATTATCGAACGACTGACTGTAAACCTCACCACACAGGGTGGTGCCCTGGCCCCGAGGTCACCCCGACTTTTCTAAATCTTGTTTGAGTGAAGTCATTTTTTCATGTGTTCATACTATCATTGTAGCTGTGAAGTTCTGGTACAGTTGTAAAAAGAGAAATTGAGTTGTTTCTCTATGTTCTTCAGATGTGCAGCCCACAATTCCTCGGGAAAGGTGAACCTGAACAACCCAAGTCTCTCTCTGCAGAGCCCTGTTTCTAATTGTGGTAGAAAATATTGAGACAGAGCATTTGCCATGGGACATTTACAGCCTTTATACAAATGTATTTAGTTCTCTTTTTTCCAACATAAAATTCTTGTTTTAAGATACAAGTAAAATTAATCTTTAAATATAAATGTAAATTAGTACACAAAACTAAGAATCTTTAGACTTATCTTTGTAACTAATTAGGGTGGAAGTTATGAAAGAATGTAATTCACTAAATTATTTTTTAAATGAAACCTTTTTTTTTCTTTTTGAAACCAAATGTTAAACTATAGCCTTAAGAAATGCTTGGTAGAAGTGTCCTAATGAGACAAATTTGTACTTTTATCCTCAAGGTTAACACTAATCTCCTAATCCATTAAACTCTTGAACAGGTATTACAAAGGAAGAAAACTTCACCCCTTATCCTTAACATATATAGTATATTTAAAAAATATAAAATTGTATTGTACTAATGTGATGATGGATTATTTAATGAAAAAGAAAAAATGGCTCTTTTTGCAATAAGTAGATACATACTGAAAAAATCTAAACTTACAATGTTTATAGTCTTGTGTGTGCAGTTATATTTTATATGGACGACCAAATTTTTTATTAAGATGAGTAAATATTTGAACCACTGAATTTTAATAACAAAATTTTAAAATTGGCATGAATACGGAATACTGCACTGTGAGATGCAAAGTATACAGAATCTGTGGCTGGGAGAAAATTTCATCAAATAGACAAGTAAAAGGCTCATCAGTTTTAGCATCTCTGCTCCCCAGAAAATTGTAAGCATCCTCACCAGCCTGTGGATACATTCTTTATTTCTAGTGACCCAATATGCATATTAACCTGCTATAACTAGGGCTATATGTGTAGGTATGTGTATACATATACACAAATGCACATATAGAGTTAACACATTTAGTGAACACTTGTTTAGTGTCACTCAGTTTGCTAGGTGCTGATATGTACGTATATCTCAATGTGTCTGTAGACTTAGATACATCCTCTTGAAGCACATCCATTTCTTTAGCGTCTCTCAGTAAGTTACAGTACTTGTTTGACTTAGGTTTAAGAGGCCCAGCTACCTATCTCTGACCTTTTCAAATAGGCTCATTTGGGAGATTCTTTTGCCAGGAGAGATTCAACTTTCCAATCTAAGTATTCCAGAGCATTGCCCAGGCAGAGTTGGTTTGATGTGGCCAGATGTTTTGAGTTATTTCCCTTAAGTGTTTCACTGGGGAGAGAACAGGGAGTGCTCCTCCAGCTTCCCAAAGAAATATGTTTTTGTAAGTGGTAGGAACATGTGCACACAATAGAACATGAAATAAGTTTTTTAACTTGTAAAACATGTCAAGATTTTTCCACCAAGCTAGAAAATAAAAAACTTAGTTCTACCACATCCAATTAACTTACACACCCCCTTCCCTGTCTCAACACCTGCTTTGACCCTGCTTTTCTATTATTACATCAGTCAGCATCTTGTGGTCCCTAACATGAGGATGTGGCTGGCTCGTGGGAAACAGCAAAACACTAAGCCTGACCTCTCCCAAATTGGGAAGACCAGAGGAGAAAGTGCAAAACTGTCCCCATTTGGAATGCCCATTCCTTCTAGAAACCAGTTGGACAGTGCTCCTCTGCCCTTCATAAACAGACTACTGTTGGGTCCCTGATTCCAGGCTGGCCTGTGAAGGATTGCCCCAG
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GGCAGAGGGACGCAGGGCATTCGTAGAACAGGGGAATTTGACCTAGTTCAGGCGGAAGCTGAGGAAGGCTTCCTGAGGAAGAAACAGTTGAGAGCTCTCTGCGTGGTGAATATGCAACCATGACCAAACGAACCTCTCAGCTCCTTCCCTGTCAAAGAGCACCCACTCCTAGAGGTCGTATGATATCATATGAGACAATCTGTGTAAAGCATTTGATACTGAGTAGATGGATAGTAAACACTCAATATTTGTTGGCTATTCTGATGTGAATTTTCATTCATTCAGCAATTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGGTAGAGTCTTGCTCTGTTGCCCAGGCTAAAGTGCAGTGGTGCAATCTTGGCTCGCTGCAACCTCTGCCTCCCGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCGCCACTGTGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACAGTGTTGGCCAGGCGGGTCTCGAACTCCTGACCTTGTGATCCACCTGCATTGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCAGCAAATATTTATTAAATGACTTGTGTGCCATGTCCTCAAGCTAGTTGCTGGGAAACAGGGCCCCTGTTCCTTAGGAACTTATATTCCACTGGGTGAGATGGATATTAGAAAAAAAATTGTACACGCCAGTATGTGTTTACCAACTGTATAGCATGCTGTGATGGGAAAATGAGATGTACTGCAAGACTATTCTTTAAGTAGGGACTGGAAGCTTGGATACCTTAAGAGCAAGGGAAACTAAACAGGGGAAACAGCCTGATACTTAGAGGGAAATTAGGCCTATAACAAACTGGAAGAGGCTCTCAAGTTCAAAATGTTTTCATTCAAACAATGCTTTGGCGTAATCAAACACAAAAGTAACAGAGTCACTGACGCGTTTCATGTTTTTGCTTGATTAGATTTGCTCTTAGAAAGTTCCTTCTGAGAATAGCATGGGGAATTGAGACCAGAGTGAGGACAGAAAGGAGTCAGGGTCTGTGTGGTGTGGAGGGAGCTGCAATGATTTGGGCTGGAGAACTCAAAATACGAGGGATAATTAGAGGGATTCAAGAGACTGGAGGGGAAGCATGAGTATTTCACAATACATTTTGAAAGATAAAGCCCATGTCTATGGAAAGAATGTCATTCCACAGGATTCTACCTATCCCACTGTTCCTTGATTCAGCAGATACTTTTCTGGGTCTAGGCACTACTGGTTAACATAGTGGTGAGGGAGGCACTCCTGCAGCTTCTCTGTCCTTGGCTATTGTGAAACAAGATTTAGCAGAAGTTTAAGACTAGGATGGGAAAAAGAGTGGATTTTAAATGTTCTCATCACAAAGAAGTACGTGAAGTGCTTGGTATGTTAGCCTGATGTAATCGTCCCACAAGGTATATACATCTATCATCACATTGTAGCCCATAAATATATGTACTGCAAGACTTTATTCTTTTAGGTAGGGACTGGAATTATTACTTGTCAATTTAAAAATTCAGATAAAAAATAAGACAATTTCTTAGAGTAAATGATTGCCTTGCGGGACAGAATTAAAGAGAATTCTTTGTTGTAAAGAAATCAGCCCCCTAAAAAACAAAAACACAAATGTGCTAATTTTTGTGGTCCTTTCTTGGGCATAGATTATGAGTGACCCTATCTAGAAGGTATTTCTTACTTATGATAACCACGTTTAGATGGGCTTCAGGTCATAGTTGTAGTGTTCTGAATCTGTGTTAGAGGACACAGAGTGAGGCTGAGCAAATCTCTCTTGGACTTAAGACTTGTTCTTCTCCAATTAAGTCATAGTCGTCATACACAGATGGAATATGTTTTCATCCTTTTGGTATTATATACTTTTTTTTTATCTTAACAGGTGGTAACAAACAGGGATACACAAGAAACTCTACTCTGCATGGCCTGTGTGTTTGAAGTTTCAAATAGTGAACACGGAGCACAACATCATATTCACAGGCTTGTAAAGGACTGAACATGGTTATTTATATATATAGATATCTGTATATACACACACACATATGTGCACACACACACTCTCTCTCCATTATCGAACGACTGACTGTAAACCTCACCACACAGGGTGGTGCCCTGGCCCCGAGGTCACCCCGACTTTTCTAAATCTTGTTTGAGTGAAGTCATTTTTTCATGTGTTCATACTATCATTGTAGCTGTGAAGTTCTGGTACAGTTGTAAAAAGAGAAATTGAGTTGTTTCTCTATGTTCTTCAGATGTGCAGCCCACAATTCCTCGGGAAAGGTGAACCTGAACAACCCAAGTCTCTCTCTGCAGAGCCCTGTTTCTAATTGTGGTAGAAAATATTGAGACAGAGCATTTGCCATGGGACATTTACAGCCTTTATACAAATGTATTTAGTTCTCTTTTTTCCAACATAAAATTCTTGTTTTAAGATACAAGTAAAATTAATCTTTAAATATAAATGTAAATTAGTACACAAAACTAAGAATCTTTAGACTTATCTTTGTAACTAATTAGGGTGGAAGTTATGAAAGAATGTAATTCACTAAATTATTTTTTAAATGAAACCTTTTTTTTTCTTTTTGAAACCAAATGTTAAACTATAGCCTTAAGAAATGCTTGGTAGAAGTGTCCTAATGAGACAAATTTGTACTTTTATCCTCAAGGTTAACACTAATCTCCTAATCCATTAAACTCTTGAACAGGTATTACAAAGGAAGAAAACTTCACCCCTTATCCTTAACATATATAGTATATTTAAAAAATATAAAATTGTATTGTACTAATGTGATGATGGATTATTTAATGAAAAAGAAAAAATGGCTCTTTTTGCAATAAGTAGATACATACTGAAAAAATCTAAACTTACAATGTTTATAGTCTTGTGTGTGCAGTTATATTTTATATGGACGACCAAATTTTTTATTAAGATGAGTAAATATTTGAACCACTGAATTTTAATAACAAAATTTTAAAATTGGCATGAATACGGAATACTGCACTGTGAGATGCAAAGTATACAGAATCTGTGGCTGGGAGAAAATTTCATCAAATAGACAAGTAAAAGGCTCATCAGTTTTAGCATCTCTGCTCCCCAGAAAATTGTAAGCATCCTCACCAGCCTGTGGATACATTCTTTATTTCTAGTGACCCAATATGCATATTAACCTGCTATAACTAGGGCTATATGTGTAGGTATGTGTATACATATACACAAATGCACATATAGAGTTAACACATTTAGTGAACACTTGTTTAGTGTCACTCAGTTTGCTAGGTGCTGATATGTACGTATATCTCAATGTGTCTGTAGACTTAGATACATCCTCTTGAAGCACATCCATTTCTTTAGCGTCTCTCAGTAAGTTACAGTACTTGTTTGACTTAGGTTTAAGAGGCCCAGCTACCTATCTCTGACCTTTTCAAATAGGCTCATTTGGGAGATTCTTTTGCCAGGAGAGATTCAACTTTCCAATCTAAGTATTCCAGAGCATTGCCCAGGCAGAGTTGGTTTGATGTGGCCAGATGTTTTGAGTTATTTCCCTTAAGTGTTTCACTGGGGAGAGAACAGGGAGTGCTCCTCCAGCTTCCCAAAGAAATATGTTTTTGTAAGTGGTAGGAACATGTGCACACAATAGAACATGAAATAAGTTTTTTAACTTGTAAAACATGTCAAGATTTTTCCACCAAGCTAGAAAATAAAAAACTTAGTTCTACCACATCCAATTAACTTACACACCCCCTTCCCTGTCTCAACACCTGCTTTGACCCTGCTTTTCTATTATTACATCAGTCAGCATCTTGTGGTCCCTAACATGAGGATGTGGCTGGCTCGTGGGAAACAGCAAAACACTAAGCCTGACCTCTCCCAAATTGGGAAGACCAGAGGAGAAAGTGCAAAACTGTCCCCATTTGGAATGCCCATTCCTTCTAGAAACCAGTTGGACAGTGCTCCTCTGCCCTTCATAAACAGACTACTGTTGGGTCCCTGATTCCAGGCTGGCCTGTGAAGGATTGCCCCAG
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Task1_train_15327
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This variant affects gene PTH (parathyroid hormone) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hypoparathyroidism, familial isolated 1
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CCTTCAGCATTCTCTATGATTCTGTAATGCATCCCTTTCTATTTAAAGTTAATTTTCTTTGCATTTAAACTACAGTTTGATTGATTCCACCAGAATGCAAGAAATTTGTTAATATTCTTCTGTTCTACATTTTACAAAGTTCACTTACCGTTAAACTTCCATCTCAATTGTTCATTCTATCAGGCAAGTCTACTCTCTCTGTATCTCACAGTATTTTGTATTTGTATTGTAATTACTTGCTTACCTATCTGTCTTTCTCCATTAGAAAATGAACTCTTTGAGGCCAGAGATGGAATCTTATTCATTTTTGTAATCCTGGCTCTTAGCATTACAGCCATCTTCCCTCCCAACTAAGGGCCTTTGCATATGCTATACCACCTGCCTGGGAAACCCTCCTACTTCTTTTCATCTAGTTAACTCTTAGTCATGTTTCTTATTCAGCTGGATCATCTTGAGATTGAACTATACTGTTCAGTATAGTAGTCACTAACTGTATGTGGCTATTTCCATTTTTTATTTTATAATTTTATTTAAATTAATTTTAAATTAAATTTAAAATTTAAAATCATTCAAATTGACGAAGGGATTGAAAATAAAAATAAGTAAATAAAAATCAATCATCAGTCACACTACCCACATTTTACATAAATGAACATGTGGCTACCATATTGGACAGCACAGAATACAGAACATTTCTGTCATCACAGAAAGTTCTGTTGGACAGCACTGATCTAAGTACATTAGGGCTCTGTATTTTACACTCCAATATTTTGTGCTGTGCTTACATAGCACTTATCAAACTAAATTATGAATTAATAATATCTGTCTTCTCTGTTAAATCTTAGGCCGCATGTAGACAGAAACCATGTCTGTTTTGTTTGCCATTGTATGCCAGTGCCTAAGACAGTACACGACAAACAATAAACACTAAATAGATATTTGTCAAATGACAAATGAATGAATGAAATTATCTTCTAATAGATACAAACATTCTATTTCTTGCAATTTTGCGTCCAGATTAGAACTATGATTAGTGGGTTTTTATGTAGGGGCAAATACTTTTTCAAGTTTCGGACCACTTTATGCCCCCTTTTTTTGCTGAGCATTTTATTTCCTTTCCTGAAACCAAAAGGACAACAGTATTGAGCTAGTGAAGATTTGGAAACCTAATACTTTGGTAATACTAAAACGTTGATGTTCAAAATATCCAAATGTGAAACACATGACTAAAAAAATACTTTGTATTGTTCTACCTAGTCATGATCAATGTAAACATGTGGGTATCAGTGATAACCAAAAAGATATACTTGCAATGAGTGAGAAATACTTCATTTATTTAGACTTATGATCATTACATTTTTGTTTTACATTTTAAGGTAGAAGAGAGGTTTAAAAGTGCAATTTTATTCTTTTATAAATTATGCAATAACATACTTTAAAAAGAATAAACAATAGAAAAGATAATTAAAATAACTCAAATGAATAAAAGTGGAATCAGAATAATCAATTAAAATTGCAGTTATCATGGCTAGTGATGGATTACATGTAGTTTGTTATATCAGAAATATTGGCACTTGGAAATCTTAATAGAGCTTTGAATTAGCAGCATGTATTGTTGCCCTACACTGTCTAGAGCAGAACTCTGACAATATCTGTTTTCATTTTCACTGGGATTTAGCTTTAGTTAATACATTCACATCAGCTTTGTCTGCCTCTCCAAGACTTTTTTCATGGCTCTCAACCAAGACATTGTCTTCCTTTTTTCGGGGCCTCTGGGAACCAGCATCTCTGGGAGCTAGAGGAGCTCCAAGGGCAACAAAATTGTGCACATCCTGCAGCTTCTTACGCAGCCATTCTACTCTCTCCATCGAGTTCAGATGTTTTCCCAGGTTATGCATAAGCTGTATTTCACTCACAGATCTCTTCCTGGGAAGAAGAGAAACAGAGAGGGCCACTTCCCATTAGCTCCCCACTTCGAAATGATAAAGTCAACATTAAAAATCCAATTCCAAGGCAAAACAGTACTTACTTAACAGATTTCCCATCCGATTTTGTAAGAAAACAAATTGCCAACATGACAATCATAACTTTAGCCATGTCTTTTGCAGGTATCATCTTCACTAAAAGGACAAGCAAAATGGAGGTATTTTAAAATATTTTTAATATTCCAAACTATAGTACACAGAATGCAATACTAACTAATTGGGTTGGTTTTCACGAGAAGCTTTTGGAATCAACCTCTTTATTTTATGGATACATTAGTATACATTATATATACACATAATTTAACTTATAAATTAGTTTTATGCTCCTAACTATCTTTTGGAGATTTCTTGTGCAAGTTTTATTTATTTATTTATTTATTTATTTTTATTTATTTTTTTAGAATGCAATTTTTTATTGTTTTCTAAATCTATTTGTACACTTAATATGCTAGTATTAATTTCACAAACAGTATAAAGAATGTACTCCAATGATATTAAGCGGCAACTACTCACCTGAAAAAGAAAACATTGTCTCTGAAATAATTCCTAATTATACAATTTTGCAAACTAATAAGCACTATAAATATTAAAATGTTAAGACTTCAATGTATAATGTCAATAACATCCTGCCTTTTTAAAATTGCTTAAAACATTTGTTAAAGATCATGCAAAATAAACACTGTATTAAAATGCTAGATTACACTCAAACATCAAGGCAATGAAACACAAAAGAGCAACTATTTAGCACAATGACTGGCCAAGTAAATAACTTAATCAGCATATTAATAAAAATCCACTGAGTGATAAACATCAAAAATGTAACACTGAATCTAGATAATCACGCATCTGCGATCTCACCATCTACCGTCCTAACTGTGACTTGGGGTAAACTGCCAGAATTCATTCTGCATAAATGAGCTATGTTAAAATGTTAGCAACATTTCATTGCATGATGACAGAGTACATTTCTAGTCCACACAGTACTTCAACGTGATCATTCTCTTAACTCAGCTAATAACTAATGGAAAGTACAGTTTTACAGTCATACCACTTATGTATATACATATATTTTACCCTTGCTTTGTTACATGTTTTTAAATTTTTTTTAAAAAAGTATTTCCTTTCTTATGATCCTCCCCCAGAATTAACATGCTGACTTAGGAAAAGACGAAGTAGATAAAGTCTATCCTAGTATAGAGAGCAATGGTTTACTTTTACCTAATTAAATATTTCCTTGTCATTTATCAATTGTCACTGACCTTTTTTATGTAATTATTTCCTCATTCACTCATCTATAAATATTTATTAGTGCCTGTTGTTACCCATGTCTCCTTGATTTTCCAGAAAAATAATTCATGTTTTTTTTTTCTTCTCATTGCTAAGCTCACTTAGAAAAATTAGGCACCATTTAAAAGACTTGGAGAACAGACCAGCGTGGCTTCTTGGGCACAGCTGGATGGTGCTGGAAGCCAGGCCTGGGATTTGGAGAGAAGAGTCTCCAACAGATAAACCCACGGAGGTCACCAGCCCTCCCTGCATCTACTCTCCTAACAGCTCAGGATGGCCCTGTTACACTACTGCCAGCCCTGGTGACTCGCTTTCTTAGCAATTTTTAAAGCCCTCTTCATTATGTACTTCCTACTTAAAATTCAGAACCTCTGTGATAAGCAATGCCTCTGTCATACAGAATGCTGGATCTCAGTTTACTGAGCCTCTCCCTGTAGTGTCACAGGCTGTGCACTCACCTAGATGAGCCCCTAAGAGCAGGGTTTGCTTCTGCTTCATCTAATGCCACATCTTCCCTCAAATGTGTGGTCACCAAATGTTCTGCAAAAAGGGTCTCTAGCTTTTTACTTTTCTTTTTGGCAAATTAAGCCCTTTAAAATACTTCTGACCTATCTTTATACTCAGATCTCACCTCATCTCAAGTTTTATGGGGTAATGCGCCAGTGAAAGGTACAGTGGTATTAGTGAGTTCTGAAGCTTCTAATTACATAGACAATAGAGGCTGGCTGGTGAGCCATGCTTCTCATGCTCCCTTCTGTCACACTGCAGAAATCTTAAGCTACAAGAGGAATGAAAGAGCCTATTTTTGAGAAATCCCCCCGCAC
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CCTTCAGCATTCTCTATGATTCTGTAATGCATCCCTTTCTATTTAAAGTTAATTTTCTTTGCATTTAAACTACAGTTTGATTGATTCCACCAGAATGCAAGAAATTTGTTAATATTCTTCTGTTCTACATTTTACAAAGTTCACTTACCGTTAAACTTCCATCTCAATTGTTCATTCTATCAGGCAAGTCTACTCTCTCTGTATCTCACAGTATTTTGTATTTGTATTGTAATTACTTGCTTACCTATCTGTCTTTCTCCATTAGAAAATGAACTCTTTGAGGCCAGAGATGGAATCTTATTCATTTTTGTAATCCTGGCTCTTAGCATTACAGCCATCTTCCCTCCCAACTAAGGGCCTTTGCATATGCTATACCACCTGCCTGGGAAACCCTCCTACTTCTTTTCATCTAGTTAACTCTTAGTCATGTTTCTTATTCAGCTGGATCATCTTGAGATTGAACTATACTGTTCAGTATAGTAGTCACTAACTGTATGTGGCTATTTCCATTTTTTATTTTATAATTTTATTTAAATTAATTTTAAATTAAATTTAAAATTTAAAATCATTCAAATTGACGAAGGGATTGAAAATAAAAATAAGTAAATAAAAATCAATCATCAGTCACACTACCCACATTTTACATAAATGAACATGTGGCTACCATATTGGACAGCACAGAATACAGAACATTTCTGTCATCACAGAAAGTTCTGTTGGACAGCACTGATCTAAGTACATTAGGGCTCTGTATTTTACACTCCAATATTTTGTGCTGTGCTTACATAGCACTTATCAAACTAAATTATGAATTAATAATATCTGTCTTCTCTGTTAAATCTTAGGCCGCATGTAGACAGAAACCATGTCTGTTTTGTTTGCCATTGTATGCCAGTGCCTAAGACAGTACACGACAAACAATAAACACTAAATAGATATTTGTCAAATGACAAATGAATGAATGAAATTATCTTCTAATAGATACAAACATTCTATTTCTTGCAATTTTGCGTCCAGATTAGAACTATGATTAGTGGGTTTTTATGTAGGGGCAAATACTTTTTCAAGTTTCGGACCACTTTATGCCCCCTTTTTTTGCTGAGCATTTTATTTCCTTTCCTGAAACCAAAAGGACAACAGTATTGAGCTAGTGAAGATTTGGAAACCTAATACTTTGGTAATACTAAAACGTTGATGTTCAAAATATCCAAATGTGAAACACATGACTAAAAAAATACTTTGTATTGTTCTACCTAGTCATGATCAATGTAAACATGTGGGTATCAGTGATAACCAAAAAGATATACTTGCAATGAGTGAGAAATACTTCATTTATTTAGACTTATGATCATTACATTTTTGTTTTACATTTTAAGGTAGAAGAGAGGTTTAAAAGTGCAATTTTATTCTTTTATAAATTATGCAATAACATACTTTAAAAAGAATAAACAATAGAAAAGATAATTAAAATAACTCAAATGAATAAAAGTGGAATCAGAATAATCAATTAAAATTGCAGTTATCATGGCTAGTGATGGATTACATGTAGTTTGTTATATCAGAAATATTGGCACTTGGAAATCTTAATAGAGCTTTGAATTAGCAGCATGTATTGTTGCCCTACACTGTCTAGAGCAGAACTCTGACAATATCTGTTTTCATTTTCACTGGGATTTAGCTTTAGTTAATACATTCACATCAGCTTTGTCTGCCTCTCCAAGACTTTTTTCATGGCTCTCAACCAAGACATTGTCTTCCTTTTTTCGGGGCCTCTGGGAACCAGCATCTCTGGGAGCTAGAGGAGCTCCAAGGGCAACAAAATTGTGCACATCCTGCAGCTTCTTACGCAGCCATTCTACTCTCTCCATCGAGTTCAGATGTTTTCCCAGGTTATGCATAAGCTGTATTTCACTCACAGATCTCTTCCTGGGAAGAAGAGAAACAGAGAGGGCCACTTCCCATTAGCTCCCCACTTCGAAATGATAAAGTCAACATTAAAAATCCAATTCCAAGGCAAAACAGTACTTACTTAACAGATTTCCCATCCGGTTTTGTAAGAAAACAAATTGCCAACATGACAATCATAACTTTAGCCATGTCTTTTGCAGGTATCATCTTCACTAAAAGGACAAGCAAAATGGAGGTATTTTAAAATATTTTTAATATTCCAAACTATAGTACACAGAATGCAATACTAACTAATTGGGTTGGTTTTCACGAGAAGCTTTTGGAATCAACCTCTTTATTTTATGGATACATTAGTATACATTATATATACACATAATTTAACTTATAAATTAGTTTTATGCTCCTAACTATCTTTTGGAGATTTCTTGTGCAAGTTTTATTTATTTATTTATTTATTTATTTTTATTTATTTTTTTAGAATGCAATTTTTTATTGTTTTCTAAATCTATTTGTACACTTAATATGCTAGTATTAATTTCACAAACAGTATAAAGAATGTACTCCAATGATATTAAGCGGCAACTACTCACCTGAAAAAGAAAACATTGTCTCTGAAATAATTCCTAATTATACAATTTTGCAAACTAATAAGCACTATAAATATTAAAATGTTAAGACTTCAATGTATAATGTCAATAACATCCTGCCTTTTTAAAATTGCTTAAAACATTTGTTAAAGATCATGCAAAATAAACACTGTATTAAAATGCTAGATTACACTCAAACATCAAGGCAATGAAACACAAAAGAGCAACTATTTAGCACAATGACTGGCCAAGTAAATAACTTAATCAGCATATTAATAAAAATCCACTGAGTGATAAACATCAAAAATGTAACACTGAATCTAGATAATCACGCATCTGCGATCTCACCATCTACCGTCCTAACTGTGACTTGGGGTAAACTGCCAGAATTCATTCTGCATAAATGAGCTATGTTAAAATGTTAGCAACATTTCATTGCATGATGACAGAGTACATTTCTAGTCCACACAGTACTTCAACGTGATCATTCTCTTAACTCAGCTAATAACTAATGGAAAGTACAGTTTTACAGTCATACCACTTATGTATATACATATATTTTACCCTTGCTTTGTTACATGTTTTTAAATTTTTTTTAAAAAAGTATTTCCTTTCTTATGATCCTCCCCCAGAATTAACATGCTGACTTAGGAAAAGACGAAGTAGATAAAGTCTATCCTAGTATAGAGAGCAATGGTTTACTTTTACCTAATTAAATATTTCCTTGTCATTTATCAATTGTCACTGACCTTTTTTATGTAATTATTTCCTCATTCACTCATCTATAAATATTTATTAGTGCCTGTTGTTACCCATGTCTCCTTGATTTTCCAGAAAAATAATTCATGTTTTTTTTTTCTTCTCATTGCTAAGCTCACTTAGAAAAATTAGGCACCATTTAAAAGACTTGGAGAACAGACCAGCGTGGCTTCTTGGGCACAGCTGGATGGTGCTGGAAGCCAGGCCTGGGATTTGGAGAGAAGAGTCTCCAACAGATAAACCCACGGAGGTCACCAGCCCTCCCTGCATCTACTCTCCTAACAGCTCAGGATGGCCCTGTTACACTACTGCCAGCCCTGGTGACTCGCTTTCTTAGCAATTTTTAAAGCCCTCTTCATTATGTACTTCCTACTTAAAATTCAGAACCTCTGTGATAAGCAATGCCTCTGTCATACAGAATGCTGGATCTCAGTTTACTGAGCCTCTCCCTGTAGTGTCACAGGCTGTGCACTCACCTAGATGAGCCCCTAAGAGCAGGGTTTGCTTCTGCTTCATCTAATGCCACATCTTCCCTCAAATGTGTGGTCACCAAATGTTCTGCAAAAAGGGTCTCTAGCTTTTTACTTTTCTTTTTGGCAAATTAAGCCCTTTAAAATACTTCTGACCTATCTTTATACTCAGATCTCACCTCATCTCAAGTTTTATGGGGTAATGCGCCAGTGAAAGGTACAGTGGTATTAGTGAGTTCTGAAGCTTCTAATTACATAGACAATAGAGGCTGGCTGGTGAGCCATGCTTCTCATGCTCCCTTCTGTCACACTGCAGAAATCTTAAGCTACAAGAGGAATGAAAGAGCCTATTTTTGAGAAATCCCCCCGCAC
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Task1_train_15328
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Consider this mutation in PTH (parathyroid hormone) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Hypoparathyroidism, familial isolated 1
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ATGATTCTGTAATGCATCCCTTTCTATTTAAAGTTAATTTTCTTTGCATTTAAACTACAGTTTGATTGATTCCACCAGAATGCAAGAAATTTGTTAATATTCTTCTGTTCTACATTTTACAAAGTTCACTTACCGTTAAACTTCCATCTCAATTGTTCATTCTATCAGGCAAGTCTACTCTCTCTGTATCTCACAGTATTTTGTATTTGTATTGTAATTACTTGCTTACCTATCTGTCTTTCTCCATTAGAAAATGAACTCTTTGAGGCCAGAGATGGAATCTTATTCATTTTTGTAATCCTGGCTCTTAGCATTACAGCCATCTTCCCTCCCAACTAAGGGCCTTTGCATATGCTATACCACCTGCCTGGGAAACCCTCCTACTTCTTTTCATCTAGTTAACTCTTAGTCATGTTTCTTATTCAGCTGGATCATCTTGAGATTGAACTATACTGTTCAGTATAGTAGTCACTAACTGTATGTGGCTATTTCCATTTTTTATTTTATAATTTTATTTAAATTAATTTTAAATTAAATTTAAAATTTAAAATCATTCAAATTGACGAAGGGATTGAAAATAAAAATAAGTAAATAAAAATCAATCATCAGTCACACTACCCACATTTTACATAAATGAACATGTGGCTACCATATTGGACAGCACAGAATACAGAACATTTCTGTCATCACAGAAAGTTCTGTTGGACAGCACTGATCTAAGTACATTAGGGCTCTGTATTTTACACTCCAATATTTTGTGCTGTGCTTACATAGCACTTATCAAACTAAATTATGAATTAATAATATCTGTCTTCTCTGTTAAATCTTAGGCCGCATGTAGACAGAAACCATGTCTGTTTTGTTTGCCATTGTATGCCAGTGCCTAAGACAGTACACGACAAACAATAAACACTAAATAGATATTTGTCAAATGACAAATGAATGAATGAAATTATCTTCTAATAGATACAAACATTCTATTTCTTGCAATTTTGCGTCCAGATTAGAACTATGATTAGTGGGTTTTTATGTAGGGGCAAATACTTTTTCAAGTTTCGGACCACTTTATGCCCCCTTTTTTTGCTGAGCATTTTATTTCCTTTCCTGAAACCAAAAGGACAACAGTATTGAGCTAGTGAAGATTTGGAAACCTAATACTTTGGTAATACTAAAACGTTGATGTTCAAAATATCCAAATGTGAAACACATGACTAAAAAAATACTTTGTATTGTTCTACCTAGTCATGATCAATGTAAACATGTGGGTATCAGTGATAACCAAAAAGATATACTTGCAATGAGTGAGAAATACTTCATTTATTTAGACTTATGATCATTACATTTTTGTTTTACATTTTAAGGTAGAAGAGAGGTTTAAAAGTGCAATTTTATTCTTTTATAAATTATGCAATAACATACTTTAAAAAGAATAAACAATAGAAAAGATAATTAAAATAACTCAAATGAATAAAAGTGGAATCAGAATAATCAATTAAAATTGCAGTTATCATGGCTAGTGATGGATTACATGTAGTTTGTTATATCAGAAATATTGGCACTTGGAAATCTTAATAGAGCTTTGAATTAGCAGCATGTATTGTTGCCCTACACTGTCTAGAGCAGAACTCTGACAATATCTGTTTTCATTTTCACTGGGATTTAGCTTTAGTTAATACATTCACATCAGCTTTGTCTGCCTCTCCAAGACTTTTTTCATGGCTCTCAACCAAGACATTGTCTTCCTTTTTTCGGGGCCTCTGGGAACCAGCATCTCTGGGAGCTAGAGGAGCTCCAAGGGCAACAAAATTGTGCACATCCTGCAGCTTCTTACGCAGCCATTCTACTCTCTCCATCGAGTTCAGATGTTTTCCCAGGTTATGCATAAGCTGTATTTCACTCACAGATCTCTTCCTGGGAAGAAGAGAAACAGAGAGGGCCACTTCCCATTAGCTCCCCACTTCGAAATGATAAAGTCAACATTAAAAATCCAATTCCAAGGCAAAACAGTACTTACTTAACAGATTTCCCATCCGATTTTGTAAGAAAACAAATTGCCAACATGACAATCATAACTTTAGCCATGTCTTTTGCAGGTATCATCTTCACTAAAAGGACAAGCAAAATGGAGGTATTTTAAAATATTTTTAATATTCCAAACTATAGTACACAGAATGCAATACTAACTAATTGGGTTGGTTTTCACGAGAAGCTTTTGGAATCAACCTCTTTATTTTATGGATACATTAGTATACATTATATATACACATAATTTAACTTATAAATTAGTTTTATGCTCCTAACTATCTTTTGGAGATTTCTTGTGCAAGTTTTATTTATTTATTTATTTATTTATTTTTATTTATTTTTTTAGAATGCAATTTTTTATTGTTTTCTAAATCTATTTGTACACTTAATATGCTAGTATTAATTTCACAAACAGTATAAAGAATGTACTCCAATGATATTAAGCGGCAACTACTCACCTGAAAAAGAAAACATTGTCTCTGAAATAATTCCTAATTATACAATTTTGCAAACTAATAAGCACTATAAATATTAAAATGTTAAGACTTCAATGTATAATGTCAATAACATCCTGCCTTTTTAAAATTGCTTAAAACATTTGTTAAAGATCATGCAAAATAAACACTGTATTAAAATGCTAGATTACACTCAAACATCAAGGCAATGAAACACAAAAGAGCAACTATTTAGCACAATGACTGGCCAAGTAAATAACTTAATCAGCATATTAATAAAAATCCACTGAGTGATAAACATCAAAAATGTAACACTGAATCTAGATAATCACGCATCTGCGATCTCACCATCTACCGTCCTAACTGTGACTTGGGGTAAACTGCCAGAATTCATTCTGCATAAATGAGCTATGTTAAAATGTTAGCAACATTTCATTGCATGATGACAGAGTACATTTCTAGTCCACACAGTACTTCAACGTGATCATTCTCTTAACTCAGCTAATAACTAATGGAAAGTACAGTTTTACAGTCATACCACTTATGTATATACATATATTTTACCCTTGCTTTGTTACATGTTTTTAAATTTTTTTTAAAAAAGTATTTCCTTTCTTATGATCCTCCCCCAGAATTAACATGCTGACTTAGGAAAAGACGAAGTAGATAAAGTCTATCCTAGTATAGAGAGCAATGGTTTACTTTTACCTAATTAAATATTTCCTTGTCATTTATCAATTGTCACTGACCTTTTTTATGTAATTATTTCCTCATTCACTCATCTATAAATATTTATTAGTGCCTGTTGTTACCCATGTCTCCTTGATTTTCCAGAAAAATAATTCATGTTTTTTTTTTCTTCTCATTGCTAAGCTCACTTAGAAAAATTAGGCACCATTTAAAAGACTTGGAGAACAGACCAGCGTGGCTTCTTGGGCACAGCTGGATGGTGCTGGAAGCCAGGCCTGGGATTTGGAGAGAAGAGTCTCCAACAGATAAACCCACGGAGGTCACCAGCCCTCCCTGCATCTACTCTCCTAACAGCTCAGGATGGCCCTGTTACACTACTGCCAGCCCTGGTGACTCGCTTTCTTAGCAATTTTTAAAGCCCTCTTCATTATGTACTTCCTACTTAAAATTCAGAACCTCTGTGATAAGCAATGCCTCTGTCATACAGAATGCTGGATCTCAGTTTACTGAGCCTCTCCCTGTAGTGTCACAGGCTGTGCACTCACCTAGATGAGCCCCTAAGAGCAGGGTTTGCTTCTGCTTCATCTAATGCCACATCTTCCCTCAAATGTGTGGTCACCAAATGTTCTGCAAAAAGGGTCTCTAGCTTTTTACTTTTCTTTTTGGCAAATTAAGCCCTTTAAAATACTTCTGACCTATCTTTATACTCAGATCTCACCTCATCTCAAGTTTTATGGGGTAATGCGCCAGTGAAAGGTACAGTGGTATTAGTGAGTTCTGAAGCTTCTAATTACATAGACAATAGAGGCTGGCTGGTGAGCCATGCTTCTCATGCTCCCTTCTGTCACACTGCAGAAATCTTAAGCTACAAGAGGAATGAAAGAGCCTATTTTTGAGAAATCCCCCCGCACTGCATTTTATGTTGA
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ATGATTCTGTAATGCATCCCTTTCTATTTAAAGTTAATTTTCTTTGCATTTAAACTACAGTTTGATTGATTCCACCAGAATGCAAGAAATTTGTTAATATTCTTCTGTTCTACATTTTACAAAGTTCACTTACCGTTAAACTTCCATCTCAATTGTTCATTCTATCAGGCAAGTCTACTCTCTCTGTATCTCACAGTATTTTGTATTTGTATTGTAATTACTTGCTTACCTATCTGTCTTTCTCCATTAGAAAATGAACTCTTTGAGGCCAGAGATGGAATCTTATTCATTTTTGTAATCCTGGCTCTTAGCATTACAGCCATCTTCCCTCCCAACTAAGGGCCTTTGCATATGCTATACCACCTGCCTGGGAAACCCTCCTACTTCTTTTCATCTAGTTAACTCTTAGTCATGTTTCTTATTCAGCTGGATCATCTTGAGATTGAACTATACTGTTCAGTATAGTAGTCACTAACTGTATGTGGCTATTTCCATTTTTTATTTTATAATTTTATTTAAATTAATTTTAAATTAAATTTAAAATTTAAAATCATTCAAATTGACGAAGGGATTGAAAATAAAAATAAGTAAATAAAAATCAATCATCAGTCACACTACCCACATTTTACATAAATGAACATGTGGCTACCATATTGGACAGCACAGAATACAGAACATTTCTGTCATCACAGAAAGTTCTGTTGGACAGCACTGATCTAAGTACATTAGGGCTCTGTATTTTACACTCCAATATTTTGTGCTGTGCTTACATAGCACTTATCAAACTAAATTATGAATTAATAATATCTGTCTTCTCTGTTAAATCTTAGGCCGCATGTAGACAGAAACCATGTCTGTTTTGTTTGCCATTGTATGCCAGTGCCTAAGACAGTACACGACAAACAATAAACACTAAATAGATATTTGTCAAATGACAAATGAATGAATGAAATTATCTTCTAATAGATACAAACATTCTATTTCTTGCAATTTTGCGTCCAGATTAGAACTATGATTAGTGGGTTTTTATGTAGGGGCAAATACTTTTTCAAGTTTCGGACCACTTTATGCCCCCTTTTTTTGCTGAGCATTTTATTTCCTTTCCTGAAACCAAAAGGACAACAGTATTGAGCTAGTGAAGATTTGGAAACCTAATACTTTGGTAATACTAAAACGTTGATGTTCAAAATATCCAAATGTGAAACACATGACTAAAAAAATACTTTGTATTGTTCTACCTAGTCATGATCAATGTAAACATGTGGGTATCAGTGATAACCAAAAAGATATACTTGCAATGAGTGAGAAATACTTCATTTATTTAGACTTATGATCATTACATTTTTGTTTTACATTTTAAGGTAGAAGAGAGGTTTAAAAGTGCAATTTTATTCTTTTATAAATTATGCAATAACATACTTTAAAAAGAATAAACAATAGAAAAGATAATTAAAATAACTCAAATGAATAAAAGTGGAATCAGAATAATCAATTAAAATTGCAGTTATCATGGCTAGTGATGGATTACATGTAGTTTGTTATATCAGAAATATTGGCACTTGGAAATCTTAATAGAGCTTTGAATTAGCAGCATGTATTGTTGCCCTACACTGTCTAGAGCAGAACTCTGACAATATCTGTTTTCATTTTCACTGGGATTTAGCTTTAGTTAATACATTCACATCAGCTTTGTCTGCCTCTCCAAGACTTTTTTCATGGCTCTCAACCAAGACATTGTCTTCCTTTTTTCGGGGCCTCTGGGAACCAGCATCTCTGGGAGCTAGAGGAGCTCCAAGGGCAACAAAATTGTGCACATCCTGCAGCTTCTTACGCAGCCATTCTACTCTCTCCATCGAGTTCAGATGTTTTCCCAGGTTATGCATAAGCTGTATTTCACTCACAGATCTCTTCCTGGGAAGAAGAGAAACAGAGAGGGCCACTTCCCATTAGCTCCCCACTTCGAAATGATAAAGTCAACATTAAAAATCCAATTCCAAGGCAAAACAGTACTTACTTAACAGATTTCCCATCCGATTTTGTAAGAAAACGAATTGCCAACATGACAATCATAACTTTAGCCATGTCTTTTGCAGGTATCATCTTCACTAAAAGGACAAGCAAAATGGAGGTATTTTAAAATATTTTTAATATTCCAAACTATAGTACACAGAATGCAATACTAACTAATTGGGTTGGTTTTCACGAGAAGCTTTTGGAATCAACCTCTTTATTTTATGGATACATTAGTATACATTATATATACACATAATTTAACTTATAAATTAGTTTTATGCTCCTAACTATCTTTTGGAGATTTCTTGTGCAAGTTTTATTTATTTATTTATTTATTTATTTTTATTTATTTTTTTAGAATGCAATTTTTTATTGTTTTCTAAATCTATTTGTACACTTAATATGCTAGTATTAATTTCACAAACAGTATAAAGAATGTACTCCAATGATATTAAGCGGCAACTACTCACCTGAAAAAGAAAACATTGTCTCTGAAATAATTCCTAATTATACAATTTTGCAAACTAATAAGCACTATAAATATTAAAATGTTAAGACTTCAATGTATAATGTCAATAACATCCTGCCTTTTTAAAATTGCTTAAAACATTTGTTAAAGATCATGCAAAATAAACACTGTATTAAAATGCTAGATTACACTCAAACATCAAGGCAATGAAACACAAAAGAGCAACTATTTAGCACAATGACTGGCCAAGTAAATAACTTAATCAGCATATTAATAAAAATCCACTGAGTGATAAACATCAAAAATGTAACACTGAATCTAGATAATCACGCATCTGCGATCTCACCATCTACCGTCCTAACTGTGACTTGGGGTAAACTGCCAGAATTCATTCTGCATAAATGAGCTATGTTAAAATGTTAGCAACATTTCATTGCATGATGACAGAGTACATTTCTAGTCCACACAGTACTTCAACGTGATCATTCTCTTAACTCAGCTAATAACTAATGGAAAGTACAGTTTTACAGTCATACCACTTATGTATATACATATATTTTACCCTTGCTTTGTTACATGTTTTTAAATTTTTTTTAAAAAAGTATTTCCTTTCTTATGATCCTCCCCCAGAATTAACATGCTGACTTAGGAAAAGACGAAGTAGATAAAGTCTATCCTAGTATAGAGAGCAATGGTTTACTTTTACCTAATTAAATATTTCCTTGTCATTTATCAATTGTCACTGACCTTTTTTATGTAATTATTTCCTCATTCACTCATCTATAAATATTTATTAGTGCCTGTTGTTACCCATGTCTCCTTGATTTTCCAGAAAAATAATTCATGTTTTTTTTTTCTTCTCATTGCTAAGCTCACTTAGAAAAATTAGGCACCATTTAAAAGACTTGGAGAACAGACCAGCGTGGCTTCTTGGGCACAGCTGGATGGTGCTGGAAGCCAGGCCTGGGATTTGGAGAGAAGAGTCTCCAACAGATAAACCCACGGAGGTCACCAGCCCTCCCTGCATCTACTCTCCTAACAGCTCAGGATGGCCCTGTTACACTACTGCCAGCCCTGGTGACTCGCTTTCTTAGCAATTTTTAAAGCCCTCTTCATTATGTACTTCCTACTTAAAATTCAGAACCTCTGTGATAAGCAATGCCTCTGTCATACAGAATGCTGGATCTCAGTTTACTGAGCCTCTCCCTGTAGTGTCACAGGCTGTGCACTCACCTAGATGAGCCCCTAAGAGCAGGGTTTGCTTCTGCTTCATCTAATGCCACATCTTCCCTCAAATGTGTGGTCACCAAATGTTCTGCAAAAAGGGTCTCTAGCTTTTTACTTTTCTTTTTGGCAAATTAAGCCCTTTAAAATACTTCTGACCTATCTTTATACTCAGATCTCACCTCATCTCAAGTTTTATGGGGTAATGCGCCAGTGAAAGGTACAGTGGTATTAGTGAGTTCTGAAGCTTCTAATTACATAGACAATAGAGGCTGGCTGGTGAGCCATGCTTCTCATGCTCCCTTCTGTCACACTGCAGAAATCTTAAGCTACAAGAGGAATGAAAGAGCCTATTTTTGAGAAATCCCCCCGCACTGCATTTTATGTTGA
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Task1_train_15329
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Here is a genetic alteration in FAR1 (fatty acyl-CoA reductase 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Fatty acyl-CoA reductase 1 deficiency
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GCAAAAGGAAACTTAGTCCATAATTTTTTTTCAGCTAGATCCTCTGAAAATGAGACAAGAAGAGCTGAGGTCATTTGTTGTTTTCCTCGTGTTTAAAAATAGACATTCCTGCTAATATAAGGAGGAAAAATGTGAAAGAAAAAAGTCTGTATTTTTTAAAATAAGTTATTATTTTTGGTAGGGGAAGAAGAAAGGGTAGTTGTAAATAGTCATTAAAGTAAAAACTAATCCTTTAAGGATAATTAAAAAAAAATAGTATAGAAAAGGTGCCCATCATCCTCATGTCTTCTTGAATACTATGTAGGACTTAGATTGGATATGTTTGGCCTCTTATTATGATTAATTGGTTTCATCTTTGTCTTTGCAGACCAAGAAACATCATGGTGTATAATTGTACAACAGGCAGCACTAATCCTTTCCACTGGGGTGAAGTTGGTATGATTTTACCTGTGTTTTTGAATGTTAGAATAAATCTTAAAGAACCAAGTTCCCTGAAGTTTTAATGTTAGAATACCTATGAGGCATTAAGGCCACTGAGTTACCAATTTGTTCTTAATTGTCGTCTTAGAAGTATTATCTACCAATACTACCTTGTGGTCCTTAATAATGTTTCACAAATTTAAAAATATACTGCTGTCTATTCTTACCCACCCACCCTACCCTTGTCTAAGCCTTGCTGTTTTTCTCCTGCCATCTGCAGTAGCCCTCGTAGATACCTATGGCATGGGAACAGTGCTTTTTTTCTCCCTTGTGAGCACCCTCAGTCTTGATGTTGCCTATCCATAGGCAGTATCACTTCTTACAAGAGGTGGTATATCAAGTGGTACCCAGAGTAATAAATGAAGGAGTTAGGAAGTAGGATACAGTTTGCCAGAATATTTTCTATTAACCTGTATTAATCTATTTAAATTCACAGATTCACAGCAGATATACATGTTCCTAGTTCTATAGGAATAGCATAACTTAAATAGGAATAGTTAAAACCCATTGAAATTGAGTCAATTTTAAATTGTTGGTTGATGAGTTCAAATTTAAAGTAAAATTTTTTTGGCATTGATTTAGTGATAGGTCTTATTTAACCTCTAATTGATTAATTACCCCTGCAGAACAATTTTGATTTCAATGTAGATTTTTTATGACATTTGTCCTAGGATTTTTCTGTGGCATTTTTATTTCAGTGTAAAATTGACCATTAGAGCATATAAGAAAAAGATAAAATCTAAGGTGATTTTAACTTTATGATAATTATTTTCAGTATTCTTTTAAGAATATTTAAACATTTTTAATGAGTTAGGTTTTTTTGTAATCTTTTATTGTGTTATAAAGTTTAGTAAAAGCTGAAATTGAGCGTTATATTTTAGTGACTATCTCAATATACATTTCTAGTAAAGTATTAATATAGATGATACTAGGTTTGATTATGTTGACATTACATAGCCTATATAAATTACAACAGAAGTTAATTTTGGGTTGTTTTAAGCCTGTTAATGTATGTTAATTTGAGCATCTTAAGCAAAGGATGATTATTTTCCTTTTCTTTTTTAAGTAAGTACAGTAATAAGAGTCTGGAAAGAGGAACAGAAAGGAAGAAGCTATCGTGAGAGGTGAAATATAGAAAGTGACACTGTAAACTGACATAGGTAAAACATTAAAAGGATTTTAAGAGTGAATTTTAGCAAAAATTCATTCATCTAAAATTCATAAATAGCGGCAGTTACAAAACCACTTGAGTTTAGCAGTCTAATAACCATATTCTCTTAGCTACTAGAGAGTAGAAAAGTTTGTTTTTTAAATGTACGAACTCTGACATCTTTGGTAAAATATTTTGCATTATAAAAACATGATTTTTTTTTTTCAAAACTTCATTACATGGTTATTATCAAAGCTGTTACACAACTTTTCTTCTTCAGAGTACCATGTAATTTCCACTTTCAAGAGGAATCCTCTCGAACAGGCCTTCAGACGGCCCAATGTAAATCTAACCTCCAATCATCTTTTATATCATTACTGGATTGCTGTAAGCCATAAGGCCCCAGCATTCCTGTATGATATCTACCTCAGGATGACTGGAAGAAGCCCAAGGTAATGGTGACTAGCTCTGTCTTATCTGTTCCTCTGTTAAACAACCCATGCTTACACTAAAATGCATATTAACTCTGTATTTGTTTATGCTTATGATAAGGCTTAATAGCCTTTTGTGAATGAGAAGCCTCTTGAATTTAAGACTTTGTCAGAAAAGCAAAGGTAGTGTTGTAAGTCACTCTAATTTGTTTAAAGTTTGGATAAGTTATTGTCATGTATTGAATTCTAAGTCTTACTTTAGGCTTCTTTCTGAATAACAATATTTAAATTGCTTTGACGCTTATTTTTCCTACAGGATATTATGTAAGTCATTCCTTCAAGATGAATCCTTTAAACCAAGTATTCAGGTGCCCCAGTTTTAAGTTTAATTCCAACAGCCTATCGCATCATTATCGGAAGGGTGTCAGCCATAGAGTATCTGCATTATTGCTCGATTGCACTCATGTTGACAGGTCAGAAACCGCGGTAAGAAGAATAGCAGTAAATACACTATGTATTGGTAAGGTGGTGGCAGCTTGCTGGAGAGATGAAAAAAATCACTAGCATGAGCTTTACCTTTAGATTTACTCACCTGATTAATCACAATCAGAATGCTAGGACATTTCTTAGAATTTGGAGATCTTTGGGGACACTAACTATGGATCACATCGTATTGGGTCGTTCATCCTCCAAAATTCCATAATATAGGAAATGTCCTACATCATGGTTGTCATTGTTATTATAAGCTGAAATTAAGCCCTTCTCTCCCTCTTAAAAACCTAGGGATGAGTTTGTATAGGGGATTAAGGGCAAAAGTTTTGCTTCAAATGGATGGTGCAGTTTTATGTGAAAAATATAGGATGCTTCTAGAAAATTACTTGAAATATCTCAGCTGCCCATTCAGCTTATAATATGGTTATTTCAGTTTTTGACTAATTATCCAGGTTGGGAATGGCATAGTTATGAAAAAAAAGTTAATAATAAACAGAAAACTTTGTTTTCTTATCGTTGTTATAGCTTTTCTTTCTTTTTTTTGTTGAAATCCCGCAAACTTAAAGATCTCCTACTGTCTTTACCACACAATTACAGTGGAATATACTATTAAAATACTTAATTTTTTTTAACTACATTGGCATTACAGTGGAGTCGTTGATTGGAGAGTTCAGGATTTGAGTATTTTTGTATAAAGAAGATGCTGATCCCAGAACTTCCATCAACTACTCAAAAAATAAAAGTGAGGTAACTGCCAGTTACAGTGTATCAGGATCTGAGTTCCTCGTAGGTATTGTCTGTGGATTCACTTTTCCATGATGTTTCTAACCCTATATGTTAGCTAATTGAAATATGTGAGAGGTGTTGAACAACTTTAGAGCAGGTAAAGAAATATTTTCAGACTTTTCTAGAATGATCTGCAAAATGCAATACTTGCCATTGGAAGCATTCTTCATGGCTAAAATGCAGATGTAAATTCATGAATGGTGGCAGTGCATGCTTTCTTTATATTAATAAGGTTGTTATAATTTAGGACAGAAAAGTAAAAACTGGGTCAAAAAAAAAACAGGTTAAATACATCACATTGCCTTACACGAAGAAAGAGGGCTTAGTAAAATTTTAAAAAAATAAGTGAATAGCTGGTTTACTAAATGCTTCAGAGGAGATGTTGCTGCATAACAAATCATCTCAAACTTAGAAGCTAAAAACAGCAACAGTTATTTTATTATTTCTTTCAATTATTTCTGTCAGGATCAAGAATTTGAGAAAGAATCCACTGGGCAGTTTTGGCTTGGAGTCTTTCATGTGTTTGTGATCAGATGAAAGAGGCCGGTGGGCAGAGAGGCAATGGAACAGCAAGGGGACTGATGTTACTCTTTGTCGTGTCATAAGGATCTCTCCATATAGCTCTTTGCAAGGATTAATGATAGCCTTAGGGGAATTAGACTTCTTATATAGCAGCTGATGGCTTCAAGGGGGAAGTCTTTTAGCAAGTAAGGTGGAGGCTGCGTTGCCTTTTCTGAGCTACCCATGGAAGTCATGC
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GCAAAAGGAAACTTAGTCCATAATTTTTTTTCAGCTAGATCCTCTGAAAATGAGACAAGAAGAGCTGAGGTCATTTGTTGTTTTCCTCGTGTTTAAAAATAGACATTCCTGCTAATATAAGGAGGAAAAATGTGAAAGAAAAAAGTCTGTATTTTTTAAAATAAGTTATTATTTTTGGTAGGGGAAGAAGAAAGGGTAGTTGTAAATAGTCATTAAAGTAAAAACTAATCCTTTAAGGATAATTAAAAAAAAATAGTATAGAAAAGGTGCCCATCATCCTCATGTCTTCTTGAATACTATGTAGGACTTAGATTGGATATGTTTGGCCTCTTATTATGATTAATTGGTTTCATCTTTGTCTTTGCAGACCAAGAAACATCATGGTGTATAATTGTACAACAGGCAGCACTAATCCTTTCCACTGGGGTGAAGTTGGTATGATTTTACCTGTGTTTTTGAATGTTAGAATAAATCTTAAAGAACCAAGTTCCCTGAAGTTTTAATGTTAGAATACCTATGAGGCATTAAGGCCACTGAGTTACCAATTTGTTCTTAATTGTCGTCTTAGAAGTATTATCTACCAATACTACCTTGTGGTCCTTAATAATGTTTCACAAATTTAAAAATATACTGCTGTCTATTCTTACCCACCCACCCTACCCTTGTCTAAGCCTTGCTGTTTTTCTCCTGCCATCTGCAGTAGCCCTCGTAGATACCTATGGCATGGGAACAGTGCTTTTTTTCTCCCTTGTGAGCACCCTCAGTCTTGATGTTGCCTATCCATAGGCAGTATCACTTCTTACAAGAGGTGGTATATCAAGTGGTACCCAGAGTAATAAATGAAGGAGTTAGGAAGTAGGATACAGTTTGCCAGAATATTTTCTATTAACCTGTATTAATCTATTTAAATTCACAGATTCACAGCAGATATACATGTTCCTAGTTCTATAGGAATAGCATAACTTAAATAGGAATAGTTAAAACCCATTGAAATTGAGTCAATTTTAAATTGTTGGTTGATGAGTTCAAATTTAAAGTAAAATTTTTTTGGCATTGATTTAGTGATAGGTCTTATTTAACCTCTAATTGATTAATTACCCCTGCAGAACAATTTTGATTTCAATGTAGATTTTTTATGACATTTGTCCTAGGATTTTTCTGTGGCATTTTTATTTCAGTGTAAAATTGACCATTAGAGCATATAAGAAAAAGATAAAATCTAAGGTGATTTTAACTTTATGATAATTATTTTCAGTATTCTTTTAAGAATATTTAAACATTTTTAATGAGTTAGGTTTTTTTGTAATCTTTTATTGTGTTATAAAGTTTAGTAAAAGCTGAAATTGAGCGTTATATTTTAGTGACTATCTCAATATACATTTCTAGTAAAGTATTAATATAGATGATACTAGGTTTGATTATGTTGACATTACATAGCCTATATAAATTACAACAGAAGTTAATTTTGGGTTGTTTTAAGCCTGTTAATGTATGTTAATTTGAGCATCTTAAGCAAAGGATGATTATTTTCCTTTTCTTTTTTAAGTAAGTACAGTAATAAGAGTCTGGAAAGAGGAACAGAAAGGAAGAAGCTATCGTGAGAGGTGAAATATAGAAAGTGACACTGTAAACTGACATAGGTAAAACATTAAAAGGATTTTAAGAGTGAATTTTAGCAAAAATTCATTCATCTAAAATTCATAAATAGCGGCAGTTACAAAACCACTTGAGTTTAGCAGTCTAATAACCATATTCTCTTAGCTACTAGAGAGTAGAAAAGTTTGTTTTTTAAATGTACGAACTCTGACATCTTTGGTAAAATATTTTGCATTATAAAAACATGATTTTTTTTTTTCAAAACTTCATTACATGGTTATTATCAAAGCTGTTACACAACTTTTCTTCTTCAGAGTACCATGTAATTTCCACTTTCAAGAGGAATCCTCTCGAACAGGCCTTCAGACGGCCCAATGTAAATCTAACCTCCAATCATCTTTTATATCATTACTGGATTGCTGTAAGCCATAAGGCCCCAGCATTCCTGTATGGTATCTACCTCAGGATGACTGGAAGAAGCCCAAGGTAATGGTGACTAGCTCTGTCTTATCTGTTCCTCTGTTAAACAACCCATGCTTACACTAAAATGCATATTAACTCTGTATTTGTTTATGCTTATGATAAGGCTTAATAGCCTTTTGTGAATGAGAAGCCTCTTGAATTTAAGACTTTGTCAGAAAAGCAAAGGTAGTGTTGTAAGTCACTCTAATTTGTTTAAAGTTTGGATAAGTTATTGTCATGTATTGAATTCTAAGTCTTACTTTAGGCTTCTTTCTGAATAACAATATTTAAATTGCTTTGACGCTTATTTTTCCTACAGGATATTATGTAAGTCATTCCTTCAAGATGAATCCTTTAAACCAAGTATTCAGGTGCCCCAGTTTTAAGTTTAATTCCAACAGCCTATCGCATCATTATCGGAAGGGTGTCAGCCATAGAGTATCTGCATTATTGCTCGATTGCACTCATGTTGACAGGTCAGAAACCGCGGTAAGAAGAATAGCAGTAAATACACTATGTATTGGTAAGGTGGTGGCAGCTTGCTGGAGAGATGAAAAAAATCACTAGCATGAGCTTTACCTTTAGATTTACTCACCTGATTAATCACAATCAGAATGCTAGGACATTTCTTAGAATTTGGAGATCTTTGGGGACACTAACTATGGATCACATCGTATTGGGTCGTTCATCCTCCAAAATTCCATAATATAGGAAATGTCCTACATCATGGTTGTCATTGTTATTATAAGCTGAAATTAAGCCCTTCTCTCCCTCTTAAAAACCTAGGGATGAGTTTGTATAGGGGATTAAGGGCAAAAGTTTTGCTTCAAATGGATGGTGCAGTTTTATGTGAAAAATATAGGATGCTTCTAGAAAATTACTTGAAATATCTCAGCTGCCCATTCAGCTTATAATATGGTTATTTCAGTTTTTGACTAATTATCCAGGTTGGGAATGGCATAGTTATGAAAAAAAAGTTAATAATAAACAGAAAACTTTGTTTTCTTATCGTTGTTATAGCTTTTCTTTCTTTTTTTTGTTGAAATCCCGCAAACTTAAAGATCTCCTACTGTCTTTACCACACAATTACAGTGGAATATACTATTAAAATACTTAATTTTTTTTAACTACATTGGCATTACAGTGGAGTCGTTGATTGGAGAGTTCAGGATTTGAGTATTTTTGTATAAAGAAGATGCTGATCCCAGAACTTCCATCAACTACTCAAAAAATAAAAGTGAGGTAACTGCCAGTTACAGTGTATCAGGATCTGAGTTCCTCGTAGGTATTGTCTGTGGATTCACTTTTCCATGATGTTTCTAACCCTATATGTTAGCTAATTGAAATATGTGAGAGGTGTTGAACAACTTTAGAGCAGGTAAAGAAATATTTTCAGACTTTTCTAGAATGATCTGCAAAATGCAATACTTGCCATTGGAAGCATTCTTCATGGCTAAAATGCAGATGTAAATTCATGAATGGTGGCAGTGCATGCTTTCTTTATATTAATAAGGTTGTTATAATTTAGGACAGAAAAGTAAAAACTGGGTCAAAAAAAAAACAGGTTAAATACATCACATTGCCTTACACGAAGAAAGAGGGCTTAGTAAAATTTTAAAAAAATAAGTGAATAGCTGGTTTACTAAATGCTTCAGAGGAGATGTTGCTGCATAACAAATCATCTCAAACTTAGAAGCTAAAAACAGCAACAGTTATTTTATTATTTCTTTCAATTATTTCTGTCAGGATCAAGAATTTGAGAAAGAATCCACTGGGCAGTTTTGGCTTGGAGTCTTTCATGTGTTTGTGATCAGATGAAAGAGGCCGGTGGGCAGAGAGGCAATGGAACAGCAAGGGGACTGATGTTACTCTTTGTCGTGTCATAAGGATCTCTCCATATAGCTCTTTGCAAGGATTAATGATAGCCTTAGGGGAATTAGACTTCTTATATAGCAGCTGATGGCTTCAAGGGGGAAGTCTTTTAGCAAGTAAGGTGGAGGCTGCGTTGCCTTTTCTGAGCTACCCATGGAAGTCATGC
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Task1_train_15330
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This sequence change occurs on Chromosome 11, altering FAR1 (fatty acyl-CoA reductase 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
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GGGGCAGGGATGGGGGCAGTGGGAGTTGTATTTGTGTTTTGAATTGGTGACTTGGTTTCTTATTTTTGGAAAATTTCCAGGCATTGTCTTCTCAGATACTGCTTCTCTTCCTTTTTTTTTTTTTTAAATAACTGTTCTTATGGGATTCCCAATAACATACACATATACCTTCTCAAAATGTTTCCTAAGTCTTCATTTTAATGCAGAGTTACTGCATTTTTATATTTTACTGAATTTTTTATAGTAGCTTTCCCTTCCTAGAATTGGCTATTTTTAGATAAGTGATGGTATATACTGAATAATATCTTTGTAACTCCAAAAAATTATCTTATTATATGCTAAGGAGCACTGAGCAATGCATAGCCCTCTTACTTTGCCATAACATTTCTGAAGGCTTTCTTTTCTGGATTTACCTATCCTTCTCATCAAATAATCTAATTACTGTTATCCAAACTCCTTAGCCAGCTTTCATAACATATCTTGATGTCAGAGATGTTGTTTTCATAACGCATCTTGATGTCAGAAGTATTCTCCAGGAAAATTAGTCTGTTCAGTAGGCATGAACTGGAAATGTATCAGTACGTGCATAAAGTAGTGAGGAATACATAGATCTATGTGGACAATATAATTTTGTCTTTTTTTTTCTTTGTTTAGCAAAATGGTACAGGCTTTTTTCTTCTTATATTTAACCTACTTCTCTTTAAATGCTGACATTAGTTTCCAGATTATCTTCTCAAATGTTTCCATGTTTAATGGATGGTATGAACTAGGAATACAAACTTTTCAGTGACTAGCGGTAAGATTTCAGAAGTTAATTCTGTATTTAAGAATTTTGTAATTATGTCACTTGGAACTGGCCTTTAGAAAAAGTGTGAATTTCTGACTGGTTGTGAGAAAAATTAGTCAAGAAAATAATCAGTAATTTTTTTGTTAACGTAGACCTTCAATATTGATGTACGGCAGTTACATTGGGCAGAATATATAGAGAACTACTGCTTGGGAACTAAGAAGTACGTATTGAATGAAGAAATGTCTGGCCTCCCTGCAGCCAGAAAACATCTGAACAAGTGAGTTTGATGCATGGATTTGATTGCTTCTTGTCTTCCTTATGAAATATTCCACAATTTTTTTGGTAAACTGGTATATTTGCTATATCTGTCATTCAAAGATGCAGATAATTTTTAATGGTAATCTCTTATATTTGTAGTGCTTTTTAATGTGATTTTTATGACACTTTTTAAGACTTTCACATTATTATCCCTCTCATGCCTCATAACTCTGTGCGACTTTGCAGGGCAGCCAGTTCTATAGATGAGGAAATTGAGGCTTAGGAAAGTTATATTTGCCTAAGCCATATTGTATTGAGTGGCAAAGCAAACTAGAATATTGATCTTTGACTCCATATTCGAACCTCTTTTCTCTACATCATTTTTCTTACATTGCCGTCCTATCTTGCACTGCCTGCTGAGGTCAGTATAATTTATGTAACATTATTACATCTCTAAAGGTTTGTATTTCTTTCAAACACCATCAGAAACATCAAAATTTTTTGAAACATGAGCTGAAACATGAGAGTAACATATTGTTACTCTTTGAGAAAAGGGAGGATCCTCCTTTATCAAGTTAATGCCATGTTTTATGCTTGGATAAGGGCTTATCCACTTGGCCTTTGATCTTGTGACTGTCACCTGTAACTGAAAGAGTAAGTTACTTGTCTGACAACTTGTAAGCAACTAAAGATGTCAAAAAAAAAGTTTGCTCTATTTTGTCTGTACTGTGATGTATGTAATGAATGAACCTTTTTAGATTAGATGGGAAGCTCTAGAAATTCAAGGTACATATCTGTTTTACCTACAGTATACTTAATGCCTATCATAAGTTTCAAATTAATATGGATTTGAGCTTTGATTAAAAACTCAGTATTAATTAGCTGCCATCTAACAATATTTTTTTCTAGAAAATACTGTCTAACATATCTCTTGATTTGCTTTCCAGGTTGCGGAATATACGTTATGGTTTTAATACTATCCTTGTGATCCTCATCTGGCGCATTTTTATTGCAAGATCACAAATGGCAAGAAATATCTGGTACTTTGTGGTTAGTCTGTGTTACAAGTTTTTGTCATACTTCCGAGCATCCAGCACTATGAGATACTGAAGACCAAGGATTCAGCATTAGAACATCTATACATATGGTGATCTAAATGTACAAAATGTAAAATGTATAAGTCATCTCACTTTTTGTCAAGACATTAAACCATCTTAGATCGGAGTGTGAAGTAAATTATGGTATATTTTATGTAACATTTTAATGTTTATGCTCATAAAACTTAGTGAACACACTGTGTTATGCCAGCTCAAATCTACAGTAGCCACCAAAACCATGACTTAATATTTTGAGCCCTAGAAGAAAGGGGTGTGCTGAGGACAAGAGTGGGGAAATAGGAACACTGACCAGTATAACTGTGCAATTCTGGAACATATTAATTAAAATAATATGCCTTAACATATAGTGAATTTCTAATTCTAATGTTCAGTGCAATGGAAGACATTTATTTGGACAGTAATACTAGCAAAGTTGGTAGATATTTGATTCTTCATTTTTTGTTTTTTTCATTAGTTGAAGTGGGTTTTAGTTTTGTTTAAAATTATAACCAGCGTATTTTCACATCATTCTGTAAGTTAAATGATATCAAACATGAAAGAGATGTTCTCATTTTTCTTTTTCTGATTAAACGTCTGATGCATATCATTTTTCTATAAGTAATCAGTTGCTTTTAAAATCAGAAGGCTATATTATTCTAATGACCCTATTCGATCTAAATGGGTTTGAGAATCCATATCAGCAACATACGTGTTTTTTGACAGAAAGTGAAAACAAATTCCGTAAAACTGTTAGTATCAAAAAGAATAGGAATACAGTTTTCTTTTCCACATTATGATCAAATAAAAATCTTGTGAGATTGTTTATGTTTTGAAGCAGGAGGATTTCTTGAGATTTGATGGAAGTGGGAGTTGGGAAGGATTCACCATACTTGTGTTCTCCTCCCTTTATAAATTTTATTCATAGGACTTTTAAAAGGCTTGTGCTATCTTTCCAGTGAAAACTGAAAGTGCATTATTATGGAAGAATGTATTTGCAGGTAGTAATAGCATTAAAAAATATACTCGTGTGTAAACACATACTAATTTTGACCTTGAAAGATGAATTCCTTCAAGAAAAATAAAATAATGCTTAAGATAATGTGTACGAAATTAAATAAAGGACTTTATTTACATACTACATAAGGTAGCAAACTGTTGAATGAGTTTGAAGGTATCACTTATTTTTTATGCATGTGATTTTAGCTTTAGAAAGAAATGCGTTATAGAAACAAGTAATAGCAAGAAAATTGATGTATATTTTAATGATACATTAAAATTCCCTTTTAATCATAATAGTTAACTCTACTTACTGTTTTAACATACATTTGATTTAACAAATTGTTCAGCATAACACTTCTAATTAAGTTTATCAAGTTGTACTGTATTAGATAATCAGCAGTGTATCTGGAGTATGTTTAAAGAGAACAGTTCGCAATACAAAAAGTTACATGGAGCTTTACATCTTAACTTTCTTTGTCAATTTAAATGCAATGTATAAAAAGTTTATTTTGCTATTGTGAAAAACTAAATGTAAAGGAAATCACCTACTTTCATGCAGGTGTATAATCTTGAAAAGGAAAAATGCTTCCATGTTGAAGCCAGATTTTCTGTAGTAAAACTTTTAAATATTATTTTAAAAGAAATATGTATATAAATATCTCTATATTCTTTGGAATGATACTAAAGTCTCTGGTCTAGGACCATACCTTATATAAAGGTATAAGAGACCATGACAATGTCTGAAAATGGAATAGATAATGATGCCTTTTATTTAAAGTGGCCCACATAATATACATTGAGTACTCCATCTCTCCAAATGTATTTCCATAATGTGTTGAAAACATGCTAACATTTGTATGATTTTTATACTTCTGCCGAATAGACTTAGAATCAGATGAATTGTCTGTGTGTCTTGCAAAAGAGTTGGGGACAACTTGGGCAGGCCTATGAA
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GGGGCAGGGATGGGGGCAGTGGGAGTTGTATTTGTGTTTTGAATTGGTGACTTGGTTTCTTATTTTTGGAAAATTTCCAGGCATTGTCTTCTCAGATACTGCTTCTCTTCCTTTTTTTTTTTTTTAAATAACTGTTCTTATGGGATTCCCAATAACATACACATATACCTTCTCAAAATGTTTCCTAAGTCTTCATTTTAATGCAGAGTTACTGCATTTTTATATTTTACTGAATTTTTTATAGTAGCTTTCCCTTCCTAGAATTGGCTATTTTTAGATAAGTGATGGTATATACTGAATAATATCTTTGTAACTCCAAAAAATTATCTTATTATATGCTAAGGAGCACTGAGCAATGCATAGCCCTCTTACTTTGCCATAACATTTCTGAAGGCTTTCTTTTCTGGATTTACCTATCCTTCTCATCAAATAATCTAATTACTGTTATCCAAACTCCTTAGCCAGCTTTCATAACATATCTTGATGTCAGAGATGTTGTTTTCATAACGCATCTTGATGTCAGAAGTATTCTCCAGGAAAATTAGTCTGTTCAGTAGGCATGAACTGGAAATGTATCAGTACGTGCATAAAGTAGTGAGGAATACATAGATCTATGTGGACAATATAATTTTGTCTTTTTTTTTCTTTGTTTAGCAAAATGGTACAGGCTTTTTTCTTCTTATATTTAACCTACTTCTCTTTAAATGCTGACATTAGTTTCCAGATTATCTTCTCAAATGTTTCCATGTTTAATGGATGGTATGAACTAGGAATACAAACTTTTCAGTGACTAGCGGTAAGATTTCAGAAGTTAATTCTGTATTTAAGAATTTTGTAATTATGTCACTTGGAACTGGCCTTTAGAAAAAGTGTGAATTTCTGACTGGTTGTGAGAAAAATTAGTCAAGAAAATAATCAGTAATTTTTTTGTTAACGTAGACCTTCAATATTGATGTACGGCAGTTACATTGGGCAGAATATATAGAGAACTACTGCTTGGGAACTAAGAAGTACGTATTGAATGAAGAAATGTCTGGCCTCCCTGCAGCCAGAAAACATCTGAACAAGTGAGTTTGATGCATGGATTTGATTGCTTCTTGTCTTCCTTATGAAATATTCCACAATTTTTTTGGTAAACTGGTATATTTGCTATATCTGTCATTCAAAGATGCAGATAATTTTTAATGGTAATCTCTTATATTTGTAGTGCTTTTTAATGTGATTTTTATGACACTTTTTAAGACTTTCACATTATTATCCCTCTCATGCCTCATAACTCTGTGCGACTTTGCAGGGCAGCCAGTTCTATAGATGAGGAAATTGAGGCTTAGGAAAGTTATATTTGCCTAAGCCATATTGTATTGAGTGGCAAAGCAAACTAGAATATTGATCTTTGACTCCATATTCGAACCTCTTTTCTCTACATCATTTTTCTTACATTGCCGTCCTATCTTGCACTGCCTGCTGAGGTCAGTATAATTTATGTAACATTATTACATCTCTAAAGGTTTGTATTTCTTTCAAACACCATCAGAAACATCAAAATTTTTTGAAACATGAGCTGAAACATGAGAGTAACATATTGTTACTCTTTGAGAAAAGGGAGGATCCTCCTTTATCAAGTTAATGCCATGTTTTATGCTTGGATAAGGGCTTATCCACTTGGCCTTTGATCTTGTGACTGTCACCTGTAACTGAAAGAGTAAGTTACTTGTCTGACAACTTGTAAGCAACTAAAGATGTCAAAAAAAAAGTTTGCTCTATTTTGTCTGTACTGTGATGTATGTAATGAATGAACCTTTTTAGATTAGATGGGAAGCTCTAGAAATTCAAGGTACATATCTGTTTTACCTACAGTATACTTAATGCCTATCATAAGTTTCAAATTAATATGGATTTGAGCTTTGATTAAAAACTCAGTATTAATTAGCTGCCATCTAACAATATTTTTTTCTAGAAAATACTGTCTAACATATCTCTTGATTTGCTTTCCAGGTTGCGGAATATACGTTATGGTTTTAATACTATCCTTGTGATCCTCATCTGGCTCATTTTTATTGCAAGATCACAAATGGCAAGAAATATCTGGTACTTTGTGGTTAGTCTGTGTTACAAGTTTTTGTCATACTTCCGAGCATCCAGCACTATGAGATACTGAAGACCAAGGATTCAGCATTAGAACATCTATACATATGGTGATCTAAATGTACAAAATGTAAAATGTATAAGTCATCTCACTTTTTGTCAAGACATTAAACCATCTTAGATCGGAGTGTGAAGTAAATTATGGTATATTTTATGTAACATTTTAATGTTTATGCTCATAAAACTTAGTGAACACACTGTGTTATGCCAGCTCAAATCTACAGTAGCCACCAAAACCATGACTTAATATTTTGAGCCCTAGAAGAAAGGGGTGTGCTGAGGACAAGAGTGGGGAAATAGGAACACTGACCAGTATAACTGTGCAATTCTGGAACATATTAATTAAAATAATATGCCTTAACATATAGTGAATTTCTAATTCTAATGTTCAGTGCAATGGAAGACATTTATTTGGACAGTAATACTAGCAAAGTTGGTAGATATTTGATTCTTCATTTTTTGTTTTTTTCATTAGTTGAAGTGGGTTTTAGTTTTGTTTAAAATTATAACCAGCGTATTTTCACATCATTCTGTAAGTTAAATGATATCAAACATGAAAGAGATGTTCTCATTTTTCTTTTTCTGATTAAACGTCTGATGCATATCATTTTTCTATAAGTAATCAGTTGCTTTTAAAATCAGAAGGCTATATTATTCTAATGACCCTATTCGATCTAAATGGGTTTGAGAATCCATATCAGCAACATACGTGTTTTTTGACAGAAAGTGAAAACAAATTCCGTAAAACTGTTAGTATCAAAAAGAATAGGAATACAGTTTTCTTTTCCACATTATGATCAAATAAAAATCTTGTGAGATTGTTTATGTTTTGAAGCAGGAGGATTTCTTGAGATTTGATGGAAGTGGGAGTTGGGAAGGATTCACCATACTTGTGTTCTCCTCCCTTTATAAATTTTATTCATAGGACTTTTAAAAGGCTTGTGCTATCTTTCCAGTGAAAACTGAAAGTGCATTATTATGGAAGAATGTATTTGCAGGTAGTAATAGCATTAAAAAATATACTCGTGTGTAAACACATACTAATTTTGACCTTGAAAGATGAATTCCTTCAAGAAAAATAAAATAATGCTTAAGATAATGTGTACGAAATTAAATAAAGGACTTTATTTACATACTACATAAGGTAGCAAACTGTTGAATGAGTTTGAAGGTATCACTTATTTTTTATGCATGTGATTTTAGCTTTAGAAAGAAATGCGTTATAGAAACAAGTAATAGCAAGAAAATTGATGTATATTTTAATGATACATTAAAATTCCCTTTTAATCATAATAGTTAACTCTACTTACTGTTTTAACATACATTTGATTTAACAAATTGTTCAGCATAACACTTCTAATTAAGTTTATCAAGTTGTACTGTATTAGATAATCAGCAGTGTATCTGGAGTATGTTTAAAGAGAACAGTTCGCAATACAAAAAGTTACATGGAGCTTTACATCTTAACTTTCTTTGTCAATTTAAATGCAATGTATAAAAAGTTTATTTTGCTATTGTGAAAAACTAAATGTAAAGGAAATCACCTACTTTCATGCAGGTGTATAATCTTGAAAAGGAAAAATGCTTCCATGTTGAAGCCAGATTTTCTGTAGTAAAACTTTTAAATATTATTTTAAAAGAAATATGTATATAAATATCTCTATATTCTTTGGAATGATACTAAAGTCTCTGGTCTAGGACCATACCTTATATAAAGGTATAAGAGACCATGACAATGTCTGAAAATGGAATAGATAATGATGCCTTTTATTTAAAGTGGCCCACATAATATACATTGAGTACTCCATCTCTCCAAATGTATTTCCATAATGTGTTGAAAACATGCTAACATTTGTATGATTTTTATACTTCTGCCGAATAGACTTAGAATCAGATGAATTGTCTGTGTGTCTTGCAAAAGAGTTGGGGACAACTTGGGCAGGCCTATGAA
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Task1_train_15331
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Gene RRAS2 (RAS related 2) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Noonan syndrome
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TTAGCATTAAGATAATATATCATTTTCTTGGGCCAGGCATTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTATCTACTAAAAATATAAAAAATTAGCCGGGCATGCTGGCAGGCGCCTGTAGTCCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAACAAAACAAAACAAATATATATATATATATATATATATATATATATATATATCATTTTCTCTTAAGTCAGTGTTTGAAATTGGGTATGCCGCCAATAAAATTTTATGTACACAGCTAAAATCAGAGACAGTTACAAAATAGAAAGCTGCCCTCAAAGCTGTTTATCAACCAATTTTTCCTGATGTTTACACTTTTCCAACAAAATCCTAAGAATCTGTAAACACAACATAATATAAAAACAAGAATACTTAAATACCAGCAAAATAAACAATTTAAACAATACATTTCAGATGTGGGGTAGAGACAAAAGACCTTTAAAAAAAGCCATATAACATTGATATTGTTTGGCTGTGTTCCCATCCAAATCTCATCTTTTTTAACTGCAGTTCCCATAACCCCCACGTGTCATGGGAGGGACCAGGTGGACATAATTGAATCATCCGCGGTTTCCCCCATCCTGTTCTCGGAGATCTGATGGTTTTATAAAGGGCGGTTTCCCTGCACACTCTCTCTTGCCTGCCGTCATGTAAGACGTGTCTTTGCTCCTCCTTCGCCTTCCGCCATGACTGTGAAGTCTCCCCAGCCATGTGAAACTGTGAGTCCATTAAACCTCTTTTTCTTTATAAATTACCCAGTCTTGGGTATGTCCTTTTAGCAGCATGAGAATGGACTAATACAAATGAACAGCCGGCATTAATATACAACTGACCTTGTTCCCCTCCCCTACAAAAAAGATGAATGTGCAATGTTACCAAAAAATTGTTTTAACTAATAAAATTTCAGTAAGTGGGTAAAGAAACAAGTGAGAATAAATTAGCCTGCAAACTAAATACTAAAAATATTATTTTATTAAATGTTACTGAAGTGTTAGAGCTAGCCAATGTAAAGAATTAACAGAAAATTCAGTCATTAAAGTGACTTAGAAAAAAATCCAAATACTGCAATTTAAATGAAAGCCATTCTCTACATGAAGTTAATTTAGTATTAACACCGAATAACTTAGGCCTTTAGTGGTAACTTTGAAATTATCCAACTAAGTTAGAGTTTTGGATGTAATCCAAGAAATTATTACATGCGAATAAAGCTAGTTTAAACACTTGCAGGCTTATAAAGTCTTATAAAATTTTATGAAAAACTATTTGAAAATAAGGAATTTTAATTTCCCCAAATCTACTTCCTTTTTATTTTTCACCCGCTGTGACTTCTGTAAATACAGTGTGCCAGACTCAGCTATAAACACTTAAGTGGCATGGAGCACCGTATTTTTTTTTTACTAGACTTTCAATTATTTCCTTAAATCTATCAGTTCACTCACATGATTATAAACAATTGGTTTCCCAACAGTGAAATTCCTTCTCACCTGTCTTTGATGATCCAGATCTGCTTTATTACCAATTAAAATCATTGGGAACTCATCACGATCCTTTACTCTGAGAATCTGTCTTTGAAACTTATAGATTTCTTCAAAACTTAAAAAAAAAAAATCAAAAACAAATTAATCAATTTGGTCAAGTATCAGAATTCAGCAAGTCTCATGCCCCAATTAGTACTTTATTTTTCCTTTTTCTATAAAAACAAAAAGTCCAAACTCAATAAAGTCTAGTGATCTTGACAAGAACAGTGGATCTACATTCTAATATGGTACAAACCTGCCTCTATCTGTGACTGAAAAGACCAACAGGAAGCCTTCGCCAGTCCTCATATACTGTTCTCTCATGGCTCCAAACTCTTCTTGTCCTGCTGTATCCAAAACTAAAGAAAAAACAACAAATGTAATTATACTTGTTTTTTATAAACTGCTTCCCCACAAGGGCAAGACCAATTAATGTGAGTCCTCTAGAGAGCCTCATACTTGGTATAATACAGAAATGGCATTCCTTTCTTAGTACTTTATTCTTAATACTAAAGGCAAATATATTCTAATGGCAGACAGTTACAGAGTTTATCTTCATCAGTATGGGTTGACTTTGTGGTTAGAATATATTAGCACACTAATTAGAAGCTTAAAAATATCAAACACATTTAATCAGATGGAGTCAGGTGACCTCTAAAATCACTTGAATGTTTTATCCCCTCCATGGAAAAAACTGAAAAAGATACCTGTAAATTCAAGAAAGAAATCTGAGTTATAACCACTATCCCCCAATACCATACTTAGTGCAGGTGCTAATGTAACTTTTGATCTCTGTAAATAAAAGAATCATACATATTAGAAGAATAGAGCTTTCTTTGTGGAGAGGGGGGATGTTTAGACACAAAACAGTACTTGCTAAAGTCTCTGTGCTATAAATTCTAAGTAACAGTATCAAACTTTTTCTATATTCACTTCATCCATTTTAACCTTTGCCAAAAGGTAGGAAGAGTTGAGACCTGACAGGTTTTTTCCAGTTGTCCCAATAAAATCAACTTCAACAAACTGCAATGAGACCAGTTTCACTAGAACAAGATCAATACAAATATCGTTTTACTTTTCATTTATTGAGGAATATTTAAATTACCCATTATGCAGACTCTTCAATCAAAACTTATAAATGACATGGGCTAATATTCCAGATCATCTAATATTTCAAATATATTATTTAACATAGCAAAACATCAGCGCTTACTTTTTTAAAAAATATGATATGCAAATTATCAAACAAAGGAAGTTTACTTACTATCTAGCCGGGCTGCTCTGTCATCTATCACACACTGCTTTGTGTAAGAATCTTCAATGGTTGGATCATAATCCGTTACAAAATAGGACTGCAAGAAAAGAAAAAACTTTATTTTAAAATTCATGGCCAGGCATGGTAGCTCACACCTGTAATCCTATGCTCTGGGAGGCCGAGGGAGAAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACACAGCAAGACTCTTATCTCTTAAAAAAAAATTAAAAAATTAAAAAATTAGCCGACGTGGTGTGTACCTGTGGTCTCTGTTACTTGGGAGGCTGATGTGGGAGGATCACTTGAGCCCAGGTGGTTGGGGCTGCAATGAACCATGATTGTGCCACTGTACTCCAGCCTGGGAGACAGGACAAGACCCTGTCTCAAAAATAAAAATAAATAAAATAAATAGAATAAAAAATAAAATAAAATTTATGATTACCTGCCTACCAATGTACCAATGTAACTTTGCTTAACAAATTCCACTTATCCAGAACTAATCAAAACATTTTCACTGTACTAGGGTTTACCCTCTATGACAATTCCCCACCAAATGTTCTTATGAGCACCTTCACGTGAAGAAAAGGTACTAGGTATCTCTAAATTTTCATATCTGAAATATGCAAGACTGTAAAAGATCTACAACTTTTTTCATAATTATTTAAGGTTAAGAATCTAGATCTCAAACTCTAGAAAAATTAGAAAACACAGTAAGTTATAATTCAGACCTATTTGAATTAGCAACCTGATTATAATCATCAGTCCTAAGAAGTCAAGTATCTGGAAAAAATGGAGACAACACAAAGAGGCCTGGAACATTTCATCTTATACCTTTCTTTTCTCACACTTTGTCTTATTCCCCTTTCAACTGCCTTATGTACTACAAGAAAATATCATTTTGAAATTTTTTCATTAGTAGGAACCTCAAACTTACTCTTTCACTGACATCTTTTGTTGTTTTTTTATCTTAAATTCTATTCCTCTCTTCTCTGATCAAACCCTCCCAACTACCGAAGTCATTACCATAAAAAAAAGGGGGGGGACAGTTAAAGTATCCAAGTAAGAAGGGAAGAATCTCAGCCTACATTTCAGTTTTA
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TTAGCATTAAGATAATATATCATTTTCTTGGGCCAGGCATTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTATCTACTAAAAATATAAAAAATTAGCCGGGCATGCTGGCAGGCGCCTGTAGTCCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAACAAAACAAAACAAATATATATATATATATATATATATATATATATATATATCATTTTCTCTTAAGTCAGTGTTTGAAATTGGGTATGCCGCCAATAAAATTTTATGTACACAGCTAAAATCAGAGACAGTTACAAAATAGAAAGCTGCCCTCAAAGCTGTTTATCAACCAATTTTTCCTGATGTTTACACTTTTCCAACAAAATCCTAAGAATCTGTAAACACAACATAATATAAAAACAAGAATACTTAAATACCAGCAAAATAAACAATTTAAACAATACATTTCAGATGTGGGGTAGAGACAAAAGACCTTTAAAAAAAGCCATATAACATTGATATTGTTTGGCTGTGTTCCCATCCAAATCTCATCTTTTTTAACTGCAGTTCCCATAACCCCCACGTGTCATGGGAGGGACCAGGTGGACATAATTGAATCATCCGCGGTTTCCCCCATCCTGTTCTCGGAGATCTGATGGTTTTATAAAGGGCGGTTTCCCTGCACACTCTCTCTTGCCTGCCGTCATGTAAGACGTGTCTTTGCTCCTCCTTCGCCTTCCGCCATGACTGTGAAGTCTCCCCAGCCATGTGAAACTGTGAGTCCATTAAACCTCTTTTTCTTTATAAATTACCCAGTCTTGGGTATGTCCTTTTAGCAGCATGAGAATGGACTAATACAAATGAACAGCCGGCATTAATATACAACTGACCTTGTTCCCCTCCCCTACAAAAAAGATGAATGTGCAATGTTACCAAAAAATTGTTTTAACTAATAAAATTTCAGTAAGTGGGTAAAGAAACAAGTGAGAATAAATTAGCCTGCAAACTAAATACTAAAAATATTATTTTATTAAATGTTACTGAAGTGTTAGAGCTAGCCAATGTAAAGAATTAACAGAAAATTCAGTCATTAAAGTGACTTAGAAAAAAATCCAAATACTGCAATTTAAATGAAAGCCATTCTCTACATGAAGTTAATTTAGTATTAACACCGAATAACTTAGGCCTTTAGTGGTAACTTTGAAATTATCCAACTAAGTTAGAGTTTTGGATGTAATCCAAGAAATTATTACATGCGAATAAAGCTAGTTTAAACACTTGCAGGCTTATAAAGTCTTATAAAATTTTATGAAAAACTATTTGAAAATAAGGAATTTTAATTTCCCCAAATCTACTTCCTTTTTATTTTTCACCCGCTGTGACTTCTGTAAATACAGTGTGCCAGACTCAGCTATAAACACTTAAGTGGCATGGAGCACCGTATTTTTTTTTTACTAGACTTTCAATTATTTCCTTAAATCTATCAGTTCACTCACATGATTATAAACAATTGGTTTCCCAACAGTGAAATTCCTTCTCACCTGTCTTTGATGATCCAGATCTGCTTTATTACCAATTAAAATCATTGGGAACTCATCACGATCCTTTACTCTGAGAATCTGTCTTTGAAACTTATAGATTTCTTCAAAACTTAAAAAAAAAAAATCAAAAACAAATTAATCAATTTGGTCAAGTATCAGAATTCAGCAAGTCTCATGCCCCAATTAGTACTTTATTTTTCCTTTTTCTATAAAAACAAAAAGTCCAAACTCAATAAAGTCTAGTGATCTTGACAAGAACAGTGGATCTACATTCTAATATGGTACAAACCTGCCTCTATCTGTGACTGAAAAGACCAACAGGAAGCCTTCGCCAGTCCTCATATACTGTTCTCTCATGGCTCCAAACTCTTCTAGTCCTGCTGTATCCAAAACTAAAGAAAAAACAACAAATGTAATTATACTTGTTTTTTATAAACTGCTTCCCCACAAGGGCAAGACCAATTAATGTGAGTCCTCTAGAGAGCCTCATACTTGGTATAATACAGAAATGGCATTCCTTTCTTAGTACTTTATTCTTAATACTAAAGGCAAATATATTCTAATGGCAGACAGTTACAGAGTTTATCTTCATCAGTATGGGTTGACTTTGTGGTTAGAATATATTAGCACACTAATTAGAAGCTTAAAAATATCAAACACATTTAATCAGATGGAGTCAGGTGACCTCTAAAATCACTTGAATGTTTTATCCCCTCCATGGAAAAAACTGAAAAAGATACCTGTAAATTCAAGAAAGAAATCTGAGTTATAACCACTATCCCCCAATACCATACTTAGTGCAGGTGCTAATGTAACTTTTGATCTCTGTAAATAAAAGAATCATACATATTAGAAGAATAGAGCTTTCTTTGTGGAGAGGGGGGATGTTTAGACACAAAACAGTACTTGCTAAAGTCTCTGTGCTATAAATTCTAAGTAACAGTATCAAACTTTTTCTATATTCACTTCATCCATTTTAACCTTTGCCAAAAGGTAGGAAGAGTTGAGACCTGACAGGTTTTTTCCAGTTGTCCCAATAAAATCAACTTCAACAAACTGCAATGAGACCAGTTTCACTAGAACAAGATCAATACAAATATCGTTTTACTTTTCATTTATTGAGGAATATTTAAATTACCCATTATGCAGACTCTTCAATCAAAACTTATAAATGACATGGGCTAATATTCCAGATCATCTAATATTTCAAATATATTATTTAACATAGCAAAACATCAGCGCTTACTTTTTTAAAAAATATGATATGCAAATTATCAAACAAAGGAAGTTTACTTACTATCTAGCCGGGCTGCTCTGTCATCTATCACACACTGCTTTGTGTAAGAATCTTCAATGGTTGGATCATAATCCGTTACAAAATAGGACTGCAAGAAAAGAAAAAACTTTATTTTAAAATTCATGGCCAGGCATGGTAGCTCACACCTGTAATCCTATGCTCTGGGAGGCCGAGGGAGAAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACACAGCAAGACTCTTATCTCTTAAAAAAAAATTAAAAAATTAAAAAATTAGCCGACGTGGTGTGTACCTGTGGTCTCTGTTACTTGGGAGGCTGATGTGGGAGGATCACTTGAGCCCAGGTGGTTGGGGCTGCAATGAACCATGATTGTGCCACTGTACTCCAGCCTGGGAGACAGGACAAGACCCTGTCTCAAAAATAAAAATAAATAAAATAAATAGAATAAAAAATAAAATAAAATTTATGATTACCTGCCTACCAATGTACCAATGTAACTTTGCTTAACAAATTCCACTTATCCAGAACTAATCAAAACATTTTCACTGTACTAGGGTTTACCCTCTATGACAATTCCCCACCAAATGTTCTTATGAGCACCTTCACGTGAAGAAAAGGTACTAGGTATCTCTAAATTTTCATATCTGAAATATGCAAGACTGTAAAAGATCTACAACTTTTTTCATAATTATTTAAGGTTAAGAATCTAGATCTCAAACTCTAGAAAAATTAGAAAACACAGTAAGTTATAATTCAGACCTATTTGAATTAGCAACCTGATTATAATCATCAGTCCTAAGAAGTCAAGTATCTGGAAAAAATGGAGACAACACAAAGAGGCCTGGAACATTTCATCTTATACCTTTCTTTTCTCACACTTTGTCTTATTCCCCTTTCAACTGCCTTATGTACTACAAGAAAATATCATTTTGAAATTTTTTCATTAGTAGGAACCTCAAACTTACTCTTTCACTGACATCTTTTGTTGTTTTTTTATCTTAAATTCTATTCCTCTCTTCTCTGATCAAACCCTCCCAACTACCGAAGTCATTACCATAAAAAAAAGGGGGGGGACAGTTAAAGTATCCAAGTAAGAAGGGAAGAATCTCAGCCTACATTTCAGTTTTA
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Task1_train_15332
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Mutation context: Chromosome 11, Gene RRAS2 (RAS related 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; RASopathy
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TAAGATAATATATCATTTTCTTGGGCCAGGCATTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTATCTACTAAAAATATAAAAAATTAGCCGGGCATGCTGGCAGGCGCCTGTAGTCCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAACAAAACAAAACAAATATATATATATATATATATATATATATATATATATATCATTTTCTCTTAAGTCAGTGTTTGAAATTGGGTATGCCGCCAATAAAATTTTATGTACACAGCTAAAATCAGAGACAGTTACAAAATAGAAAGCTGCCCTCAAAGCTGTTTATCAACCAATTTTTCCTGATGTTTACACTTTTCCAACAAAATCCTAAGAATCTGTAAACACAACATAATATAAAAACAAGAATACTTAAATACCAGCAAAATAAACAATTTAAACAATACATTTCAGATGTGGGGTAGAGACAAAAGACCTTTAAAAAAAGCCATATAACATTGATATTGTTTGGCTGTGTTCCCATCCAAATCTCATCTTTTTTAACTGCAGTTCCCATAACCCCCACGTGTCATGGGAGGGACCAGGTGGACATAATTGAATCATCCGCGGTTTCCCCCATCCTGTTCTCGGAGATCTGATGGTTTTATAAAGGGCGGTTTCCCTGCACACTCTCTCTTGCCTGCCGTCATGTAAGACGTGTCTTTGCTCCTCCTTCGCCTTCCGCCATGACTGTGAAGTCTCCCCAGCCATGTGAAACTGTGAGTCCATTAAACCTCTTTTTCTTTATAAATTACCCAGTCTTGGGTATGTCCTTTTAGCAGCATGAGAATGGACTAATACAAATGAACAGCCGGCATTAATATACAACTGACCTTGTTCCCCTCCCCTACAAAAAAGATGAATGTGCAATGTTACCAAAAAATTGTTTTAACTAATAAAATTTCAGTAAGTGGGTAAAGAAACAAGTGAGAATAAATTAGCCTGCAAACTAAATACTAAAAATATTATTTTATTAAATGTTACTGAAGTGTTAGAGCTAGCCAATGTAAAGAATTAACAGAAAATTCAGTCATTAAAGTGACTTAGAAAAAAATCCAAATACTGCAATTTAAATGAAAGCCATTCTCTACATGAAGTTAATTTAGTATTAACACCGAATAACTTAGGCCTTTAGTGGTAACTTTGAAATTATCCAACTAAGTTAGAGTTTTGGATGTAATCCAAGAAATTATTACATGCGAATAAAGCTAGTTTAAACACTTGCAGGCTTATAAAGTCTTATAAAATTTTATGAAAAACTATTTGAAAATAAGGAATTTTAATTTCCCCAAATCTACTTCCTTTTTATTTTTCACCCGCTGTGACTTCTGTAAATACAGTGTGCCAGACTCAGCTATAAACACTTAAGTGGCATGGAGCACCGTATTTTTTTTTTACTAGACTTTCAATTATTTCCTTAAATCTATCAGTTCACTCACATGATTATAAACAATTGGTTTCCCAACAGTGAAATTCCTTCTCACCTGTCTTTGATGATCCAGATCTGCTTTATTACCAATTAAAATCATTGGGAACTCATCACGATCCTTTACTCTGAGAATCTGTCTTTGAAACTTATAGATTTCTTCAAAACTTAAAAAAAAAAAATCAAAAACAAATTAATCAATTTGGTCAAGTATCAGAATTCAGCAAGTCTCATGCCCCAATTAGTACTTTATTTTTCCTTTTTCTATAAAAACAAAAAGTCCAAACTCAATAAAGTCTAGTGATCTTGACAAGAACAGTGGATCTACATTCTAATATGGTACAAACCTGCCTCTATCTGTGACTGAAAAGACCAACAGGAAGCCTTCGCCAGTCCTCATATACTGTTCTCTCATGGCTCCAAACTCTTCTTGTCCTGCTGTATCCAAAACTAAAGAAAAAACAACAAATGTAATTATACTTGTTTTTTATAAACTGCTTCCCCACAAGGGCAAGACCAATTAATGTGAGTCCTCTAGAGAGCCTCATACTTGGTATAATACAGAAATGGCATTCCTTTCTTAGTACTTTATTCTTAATACTAAAGGCAAATATATTCTAATGGCAGACAGTTACAGAGTTTATCTTCATCAGTATGGGTTGACTTTGTGGTTAGAATATATTAGCACACTAATTAGAAGCTTAAAAATATCAAACACATTTAATCAGATGGAGTCAGGTGACCTCTAAAATCACTTGAATGTTTTATCCCCTCCATGGAAAAAACTGAAAAAGATACCTGTAAATTCAAGAAAGAAATCTGAGTTATAACCACTATCCCCCAATACCATACTTAGTGCAGGTGCTAATGTAACTTTTGATCTCTGTAAATAAAAGAATCATACATATTAGAAGAATAGAGCTTTCTTTGTGGAGAGGGGGGATGTTTAGACACAAAACAGTACTTGCTAAAGTCTCTGTGCTATAAATTCTAAGTAACAGTATCAAACTTTTTCTATATTCACTTCATCCATTTTAACCTTTGCCAAAAGGTAGGAAGAGTTGAGACCTGACAGGTTTTTTCCAGTTGTCCCAATAAAATCAACTTCAACAAACTGCAATGAGACCAGTTTCACTAGAACAAGATCAATACAAATATCGTTTTACTTTTCATTTATTGAGGAATATTTAAATTACCCATTATGCAGACTCTTCAATCAAAACTTATAAATGACATGGGCTAATATTCCAGATCATCTAATATTTCAAATATATTATTTAACATAGCAAAACATCAGCGCTTACTTTTTTAAAAAATATGATATGCAAATTATCAAACAAAGGAAGTTTACTTACTATCTAGCCGGGCTGCTCTGTCATCTATCACACACTGCTTTGTGTAAGAATCTTCAATGGTTGGATCATAATCCGTTACAAAATAGGACTGCAAGAAAAGAAAAAACTTTATTTTAAAATTCATGGCCAGGCATGGTAGCTCACACCTGTAATCCTATGCTCTGGGAGGCCGAGGGAGAAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACACAGCAAGACTCTTATCTCTTAAAAAAAAATTAAAAAATTAAAAAATTAGCCGACGTGGTGTGTACCTGTGGTCTCTGTTACTTGGGAGGCTGATGTGGGAGGATCACTTGAGCCCAGGTGGTTGGGGCTGCAATGAACCATGATTGTGCCACTGTACTCCAGCCTGGGAGACAGGACAAGACCCTGTCTCAAAAATAAAAATAAATAAAATAAATAGAATAAAAAATAAAATAAAATTTATGATTACCTGCCTACCAATGTACCAATGTAACTTTGCTTAACAAATTCCACTTATCCAGAACTAATCAAAACATTTTCACTGTACTAGGGTTTACCCTCTATGACAATTCCCCACCAAATGTTCTTATGAGCACCTTCACGTGAAGAAAAGGTACTAGGTATCTCTAAATTTTCATATCTGAAATATGCAAGACTGTAAAAGATCTACAACTTTTTTCATAATTATTTAAGGTTAAGAATCTAGATCTCAAACTCTAGAAAAATTAGAAAACACAGTAAGTTATAATTCAGACCTATTTGAATTAGCAACCTGATTATAATCATCAGTCCTAAGAAGTCAAGTATCTGGAAAAAATGGAGACAACACAAAGAGGCCTGGAACATTTCATCTTATACCTTTCTTTTCTCACACTTTGTCTTATTCCCCTTTCAACTGCCTTATGTACTACAAGAAAATATCATTTTGAAATTTTTTCATTAGTAGGAACCTCAAACTTACTCTTTCACTGACATCTTTTGTTGTTTTTTTATCTTAAATTCTATTCCTCTCTTCTCTGATCAAACCCTCCCAACTACCGAAGTCATTACCATAAAAAAAAGGGGGGGGACAGTTAAAGTATCCAAGTAAGAAGGGAAGAATCTCAGCCTACATTTCAGTTTTATTTAAAA
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TAAGATAATATATCATTTTCTTGGGCCAGGCATTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTATCTACTAAAAATATAAAAAATTAGCCGGGCATGCTGGCAGGCGCCTGTAGTCCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAACAAAACAAAACAAATATATATATATATATATATATATATATATATATATATCATTTTCTCTTAAGTCAGTGTTTGAAATTGGGTATGCCGCCAATAAAATTTTATGTACACAGCTAAAATCAGAGACAGTTACAAAATAGAAAGCTGCCCTCAAAGCTGTTTATCAACCAATTTTTCCTGATGTTTACACTTTTCCAACAAAATCCTAAGAATCTGTAAACACAACATAATATAAAAACAAGAATACTTAAATACCAGCAAAATAAACAATTTAAACAATACATTTCAGATGTGGGGTAGAGACAAAAGACCTTTAAAAAAAGCCATATAACATTGATATTGTTTGGCTGTGTTCCCATCCAAATCTCATCTTTTTTAACTGCAGTTCCCATAACCCCCACGTGTCATGGGAGGGACCAGGTGGACATAATTGAATCATCCGCGGTTTCCCCCATCCTGTTCTCGGAGATCTGATGGTTTTATAAAGGGCGGTTTCCCTGCACACTCTCTCTTGCCTGCCGTCATGTAAGACGTGTCTTTGCTCCTCCTTCGCCTTCCGCCATGACTGTGAAGTCTCCCCAGCCATGTGAAACTGTGAGTCCATTAAACCTCTTTTTCTTTATAAATTACCCAGTCTTGGGTATGTCCTTTTAGCAGCATGAGAATGGACTAATACAAATGAACAGCCGGCATTAATATACAACTGACCTTGTTCCCCTCCCCTACAAAAAAGATGAATGTGCAATGTTACCAAAAAATTGTTTTAACTAATAAAATTTCAGTAAGTGGGTAAAGAAACAAGTGAGAATAAATTAGCCTGCAAACTAAATACTAAAAATATTATTTTATTAAATGTTACTGAAGTGTTAGAGCTAGCCAATGTAAAGAATTAACAGAAAATTCAGTCATTAAAGTGACTTAGAAAAAAATCCAAATACTGCAATTTAAATGAAAGCCATTCTCTACATGAAGTTAATTTAGTATTAACACCGAATAACTTAGGCCTTTAGTGGTAACTTTGAAATTATCCAACTAAGTTAGAGTTTTGGATGTAATCCAAGAAATTATTACATGCGAATAAAGCTAGTTTAAACACTTGCAGGCTTATAAAGTCTTATAAAATTTTATGAAAAACTATTTGAAAATAAGGAATTTTAATTTCCCCAAATCTACTTCCTTTTTATTTTTCACCCGCTGTGACTTCTGTAAATACAGTGTGCCAGACTCAGCTATAAACACTTAAGTGGCATGGAGCACCGTATTTTTTTTTTACTAGACTTTCAATTATTTCCTTAAATCTATCAGTTCACTCACATGATTATAAACAATTGGTTTCCCAACAGTGAAATTCCTTCTCACCTGTCTTTGATGATCCAGATCTGCTTTATTACCAATTAAAATCATTGGGAACTCATCACGATCCTTTACTCTGAGAATCTGTCTTTGAAACTTATAGATTTCTTCAAAACTTAAAAAAAAAAAATCAAAAACAAATTAATCAATTTGGTCAAGTATCAGAATTCAGCAAGTCTCATGCCCCAATTAGTACTTTATTTTTCCTTTTTCTATAAAAACAAAAAGTCCAAACTCAATAAAGTCTAGTGATCTTGACAAGAACAGTGGATCTACATTCTAATATGGTACAAACCTGCCTCTATCTGTGACTGAAAAGACCAACAGGAAGCCTTCGCCAGTCCTCATATACTGTTCTCTCATGGCTCCAAACTCTTCTTGTCCTGTTGTATCCAAAACTAAAGAAAAAACAACAAATGTAATTATACTTGTTTTTTATAAACTGCTTCCCCACAAGGGCAAGACCAATTAATGTGAGTCCTCTAGAGAGCCTCATACTTGGTATAATACAGAAATGGCATTCCTTTCTTAGTACTTTATTCTTAATACTAAAGGCAAATATATTCTAATGGCAGACAGTTACAGAGTTTATCTTCATCAGTATGGGTTGACTTTGTGGTTAGAATATATTAGCACACTAATTAGAAGCTTAAAAATATCAAACACATTTAATCAGATGGAGTCAGGTGACCTCTAAAATCACTTGAATGTTTTATCCCCTCCATGGAAAAAACTGAAAAAGATACCTGTAAATTCAAGAAAGAAATCTGAGTTATAACCACTATCCCCCAATACCATACTTAGTGCAGGTGCTAATGTAACTTTTGATCTCTGTAAATAAAAGAATCATACATATTAGAAGAATAGAGCTTTCTTTGTGGAGAGGGGGGATGTTTAGACACAAAACAGTACTTGCTAAAGTCTCTGTGCTATAAATTCTAAGTAACAGTATCAAACTTTTTCTATATTCACTTCATCCATTTTAACCTTTGCCAAAAGGTAGGAAGAGTTGAGACCTGACAGGTTTTTTCCAGTTGTCCCAATAAAATCAACTTCAACAAACTGCAATGAGACCAGTTTCACTAGAACAAGATCAATACAAATATCGTTTTACTTTTCATTTATTGAGGAATATTTAAATTACCCATTATGCAGACTCTTCAATCAAAACTTATAAATGACATGGGCTAATATTCCAGATCATCTAATATTTCAAATATATTATTTAACATAGCAAAACATCAGCGCTTACTTTTTTAAAAAATATGATATGCAAATTATCAAACAAAGGAAGTTTACTTACTATCTAGCCGGGCTGCTCTGTCATCTATCACACACTGCTTTGTGTAAGAATCTTCAATGGTTGGATCATAATCCGTTACAAAATAGGACTGCAAGAAAAGAAAAAACTTTATTTTAAAATTCATGGCCAGGCATGGTAGCTCACACCTGTAATCCTATGCTCTGGGAGGCCGAGGGAGAAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACACAGCAAGACTCTTATCTCTTAAAAAAAAATTAAAAAATTAAAAAATTAGCCGACGTGGTGTGTACCTGTGGTCTCTGTTACTTGGGAGGCTGATGTGGGAGGATCACTTGAGCCCAGGTGGTTGGGGCTGCAATGAACCATGATTGTGCCACTGTACTCCAGCCTGGGAGACAGGACAAGACCCTGTCTCAAAAATAAAAATAAATAAAATAAATAGAATAAAAAATAAAATAAAATTTATGATTACCTGCCTACCAATGTACCAATGTAACTTTGCTTAACAAATTCCACTTATCCAGAACTAATCAAAACATTTTCACTGTACTAGGGTTTACCCTCTATGACAATTCCCCACCAAATGTTCTTATGAGCACCTTCACGTGAAGAAAAGGTACTAGGTATCTCTAAATTTTCATATCTGAAATATGCAAGACTGTAAAAGATCTACAACTTTTTTCATAATTATTTAAGGTTAAGAATCTAGATCTCAAACTCTAGAAAAATTAGAAAACACAGTAAGTTATAATTCAGACCTATTTGAATTAGCAACCTGATTATAATCATCAGTCCTAAGAAGTCAAGTATCTGGAAAAAATGGAGACAACACAAAGAGGCCTGGAACATTTCATCTTATACCTTTCTTTTCTCACACTTTGTCTTATTCCCCTTTCAACTGCCTTATGTACTACAAGAAAATATCATTTTGAAATTTTTTCATTAGTAGGAACCTCAAACTTACTCTTTCACTGACATCTTTTGTTGTTTTTTTATCTTAAATTCTATTCCTCTCTTCTCTGATCAAACCCTCCCAACTACCGAAGTCATTACCATAAAAAAAAGGGGGGGGACAGTTAAAGTATCCAAGTAAGAAGGGAAGAATCTCAGCCTACATTTCAGTTTTATTTAAAA
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Task1_train_15333
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Here’s a variant in RRAS2, LOC130005368 (RAS related 2| ATAC-STARR-seq lymphoblastoid silent region 3172) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Noonan syndrome
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CTTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGACGCCAGGCCCAATTACCGCTTTCTTAATGGTTTAATACCATTACTTCCCCAAAACAAAAAGGCCCAACACCTTAATTAATTAACATGGGCTCAAATAATTCAGATGGCCCCTTCCTCAAAAAAACGTAAATATTTGTGGTTCAAATCTTTTAAATAACACTACCAATATTGTAACCCAAGATTATTCTCCCACTCCTAGACTTCTCCTCCACTTATCCCCTCACCCCCACCCTCCCTCAGCCATCAGACTAGTCCCCAAAGGGTTAGCTATAAATTGTTTTGCTTTGCCATTAGATACGTACAATCTCTCTGCGCCCTAGGGAAATAGCAACCTGACAGCATCCCTGATTCTGTAGCCTGCTAAACTTAAACCAATCTCACCCCTTACTCAGTGATTTTTTTAACCCACTAATAAGCATACTGTAAATGCTCATTACATAAAACATCCTTTCTTCCTGGATTCAAAGGTTTTAGCAGCAGTAATCCAGGGAATATTATAGCAGCAATTATTGCTCATTTACTCAATGTGAAAGGTGACAATCACATTTGTTACAGTACTCAATATTTTAATGTCACTATAAACACTAAGTGAAATAAGCTATTCAGGTATCCCAATTAATGACAAATGGGTGAAAAGGAAACCAGACAAAAATATTTCACCGTTCATACTCTAGATACTGTGAAAAATATCCTTGTTTCCTGTTATAACAGGGTACCTTCGTTCTCTCCCAGCATATGCCACACCTTTTAGGTTGACAAAAGCAGAAAGACATCGGGGCTTTGTGTTTTAAAAATCCCAAAAAAGACTACTCAAACCTCTCCCCAAGAGCAAATTCTAAGAAGGAAGAATACCACCTCCCTTTTCTTTACCACAAACCCCTGACTTACCGTCTCTAGCAACCAGAGAGGGCTGGGGGTAGGGGAGAGGGTGGTTAGAAAACAGAACGCACGACTCGGTCATATCCTAGCCCGGCCCATCCCAAACTTCACCTAGGCACGGCGAGAAGCAGGACGGCATCAGGAATTCCTAGGAAATGGTCTCACCCCATCAGAGAACATTTTTAACTTCCTAGAAGCCACCATTTCCCCGGGGCATTATCACACACTCCCACCCGGACATATTACCTAAGAGAGTACTTATAAAAAGAGCGTAACACACACACAAAGAAATACACAGTACTTGAAGCGGGCAGCTCCGGCTCAGGCGGCGCGGGGAAGCCCGGAGACCACGCGGAGCCGCGGCCAAGTTGCCACCGCTATCGCCCCGACGGTGAAGGCGCGGCCGCAGGCGGCTGGAAAAGCAGCGCGCGGGGCTCCAGCTCCAGCCCCACGCCCGGACCCTCGGAGCAGTAAAGCCCGGCTCGGTGGCCCAGCCTCTCCCGGAGGTCTCTGGCCTCGGCCAGAGCAATAAGGTGGATCGGTGCTTCCCACCCTTCCAGCTCCGCCCTCCCGACCACATTCCTGAGAAGCCCTACTCCCGCGACGCCGCGCCCGGGAGGAGGCAGGAGCGCGACGCTGCGGCCGCAGGGCAGGAGCGTAGTCGGCCCCGCGCCCTCCCGCCCCCTGGCCCCGGCCCGGGCCCGCGAGGCGCCTCTGGGGCGAGGTCGCGGCGGCCGCCCCGCCACAGGTAGCGCCAGCCCCCGCCCGCCGCCGCTCCGGCGCCCCGGGCAGGCCCGCTCCAGGTACCTGGATGAACTGGATGGTGAGCGCCGACTTGCCCACGCCGCCCCCGCCGACCACCACGAGCCGGTACTTCTCCTGGCCGGAGCCGTCCCGCCAGCCGGCCGCGGCCATGGGGACGCTACAGAGCCCAGCCTGACTGCGCCGAGCCGCCGCTGCCGCCCGCCCTAGGCCCGGCTCCGGGGACGTGTGCGGCCGGCGGGCTGCGGGCGAGCGGCCGGGCTGGGGTCCCGGGTACCGGGAGGCGTCTGGAGGGCCGGTCAGCGCGGTAGCGCGGCGCTGGGGACTGGCTGGGTACCGCCCGAGGCGCGGAGAAGCGGGGTGACGGCACGGGCCAGGGGCGGCAGCGGCCGGGGGGCGCGCTCCTCTACGCGTCTCCGCAGCGCCTGCCGAACGCAGCCTCCAGCGCCGCCACAAATGGCCGTCTGGGGGCCGGGCTGCCAGGCTGAGGTGCTGCATATGCATGAGGGGGCGGGGAGGGGCGGGGCCGCGCCGCTTGGGGCTGAGGTTCGGGAGGTAACCCGGGCTTCAGACCCCCACGGACACACCGCTCTAATCCCTAGCCAGTGAGCGAGTGCGTGAGAGTGTGGGAGTGGGTGTCAGTTGGGAGTGGGACGAAGGCAGAAAGAGTGTGTCACCCTAATTGTCTATGTAAGGGATTGTGTGGATGAAAAATACAATATGTGACGGCGTGTGCGAAAAATAGGGCTGTTGGCATATTAACTCAATTTTATAGGAGAGTACATACCCTGCTTTAAGAGTACAGATGGTGACCATATTTGTGTGAAAAACAGTATGTGACAGTGATTGAGGATTAGAGCTGTGTCACAGTAATTGAGTGTGTGATGGGCTGGTGGTTGTGACAGTGTGAAGAATGGGACAGTGGCTGAGCATGGAGAATAAGTCAGTGATTGAGCTTGCATGGGCAAGACGGAATGTGACAGATTTTGTATGTGTCAGTACAGTGTCATAGTGGCTATGTTTATGTGTGACAAATGTGCAGTAATTGGATATGAGGAGTGTGAGTGCGAGGGGTTGAACTCCTGGCCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGTCACTGCACCCGGCCTCATGGGGTTTTTAATAAGAATTAAATGAGCACATAAAACAGTGCTGCTACACAGGAAGCATTTACAGCAATCTTGGAACATGACTGCAAGTTCTTGGACTTCACTTGGTAACTCATTTGGAACCAGTAGAATGCAGCAGAAGAGATGCTGCCTAATTTCCCAGGCTAGATCAGAAGAGGCCATGCAGCTGTTCTCTTGGTATTCTCACTCCGGGAGGAACAAAGTCAGAAGTTTGACTATCATAAGACTGCCATGCTAAAGAGGCTACATGTAGGCATGCCAGTCGAAGTCTGATTGATGGCCAGGAGCAACATGCCATTTAAAAAAAAAAAAAAAAAGTCCCACTGAGCTCCCACCAGATCACCAGCATCACCTGCCAGCCATCTAAGTGAGACATCTTGGACACTCAGCCTAATCGAGCCTTCCAATGACGGCATCCCCTGTTAGCATCTGAATGCAACTGCGTGAGAGACCCCAAGCAAAAATACCCATCCAGGCCAGCCCATCCTGAATTCCTTTTTTAAAAATCTTTTTTTTTTCTTTTTTGAGACAAGATCCCTCTGTCACCCAGGCTGAAGTGTAGTGGCACAATCATGGCCCACTGCAACCTCCAACTTCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCCTAGCAGCTGGGACTACAGGCACATGCCATCAAGATCAGGTAATTTTTTTTTTTTTAAGAGACAAGGTCTCTCTATGTTACCCAGGCTAGTCTCGAACTCCCAAAGTGCTGGGATGGCTGGGCGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCGGATCGCTTGAGCCCAGGAGTTCCAGACCAACCTGGCCAACATGGCTAAACGCATCTCTACTAAAAATACAAAAATTAGTCCGGAGTGGTGGCGTGCACTTGTACTCTCCGCTACTCCGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGAC
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CTTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGACGCCAGGCCCAATTACCGCTTTCTTAATGGTTTAATACCATTACTTCCCCAAAACAAAAAGGCCCAACACCTTAATTAATTAACATGGGCTCAAATAATTCAGATGGCCCCTTCCTCAAAAAAACGTAAATATTTGTGGTTCAAATCTTTTAAATAACACTACCAATATTGTAACCCAAGATTATTCTCCCACTCCTAGACTTCTCCTCCACTTATCCCCTCACCCCCACCCTCCCTCAGCCATCAGACTAGTCCCCAAAGGGTTAGCTATAAATTGTTTTGCTTTGCCATTAGATACGTACAATCTCTCTGCGCCCTAGGGAAATAGCAACCTGACAGCATCCCTGATTCTGTAGCCTGCTAAACTTAAACCAATCTCACCCCTTACTCAGTGATTTTTTTAACCCACTAATAAGCATACTGTAAATGCTCATTACATAAAACATCCTTTCTTCCTGGATTCAAAGGTTTTAGCAGCAGTAATCCAGGGAATATTATAGCAGCAATTATTGCTCATTTACTCAATGTGAAAGGTGACAATCACATTTGTTACAGTACTCAATATTTTAATGTCACTATAAACACTAAGTGAAATAAGCTATTCAGGTATCCCAATTAATGACAAATGGGTGAAAAGGAAACCAGACAAAAATATTTCACCGTTCATACTCTAGATACTGTGAAAAATATCCTTGTTTCCTGTTATAACAGGGTACCTTCGTTCTCTCCCAGCATATGCCACACCTTTTAGGTTGACAAAAGCAGAAAGACATCGGGGCTTTGTGTTTTAAAAATCCCAAAAAAGACTACTCAAACCTCTCCCCAAGAGCAAATTCTAAGAAGGAAGAATACCACCTCCCTTTTCTTTACCACAAACCCCTGACTTACCGTCTCTAGCAACCAGAGAGGGCTGGGGGTAGGGGAGAGGGTGGTTAGAAAACAGAACGCACGACTCGGTCATATCCTAGCCCGGCCCATCCCAAACTTCACCTAGGCACGGCGAGAAGCAGGACGGCATCAGGAATTCCTAGGAAATGGTCTCACCCCATCAGAGAACATTTTTAACTTCCTAGAAGCCACCATTTCCCCGGGGCATTATCACACACTCCCACCCGGACATATTACCTAAGAGAGTACTTATAAAAAGAGCGTAACACACACACAAAGAAATACACAGTACTTGAAGCGGGCAGCTCCGGCTCAGGCGGCGCGGGGAAGCCCGGAGACCACGCGGAGCCGCGGCCAAGTTGCCACCGCTATCGCCCCGACGGTGAAGGCGCGGCCGCAGGCGGCTGGAAAAGCAGCGCGCGGGGCTCCAGCTCCAGCCCCACGCCCGGACCCTCGGAGCAGTAAAGCCCGGCTCGGTGGCCCAGCCTCTCCCGGAGGTCTCTGGCCTCGGCCAGAGCAATAAGGTGGATCGGTGCTTCCCACCCTTCCAGCTCCGCCCTCCCGACCACATTCCTGAGAAGCCCTACTCCCGCGACGCCGCGCCCGGGAGGAGGCAGGAGCGCGACGCTGCGGCCGCAGGGCAGGAGCGTAGTCGGCCCCGCGCCCTCCCGCCCCCTGGCCCCGGCCCGGGCCCGCGAGGCGCCTCTGGGGCGAGGTCGCGGCGGCCGCCCCGCCACAGGTAGCGCCAGCCCCCGCCCGCCGCCGCTCCGGCGCCCCGGGCAGGCCCGCTCCAGGTACCTGGATGAACTGGATGGTGAGCGCCGACTTGCCCACGCCGACCCCGCCGACCACCACGAGCCGGTACTTCTCCTGGCCGGAGCCGTCCCGCCAGCCGGCCGCGGCCATGGGGACGCTACAGAGCCCAGCCTGACTGCGCCGAGCCGCCGCTGCCGCCCGCCCTAGGCCCGGCTCCGGGGACGTGTGCGGCCGGCGGGCTGCGGGCGAGCGGCCGGGCTGGGGTCCCGGGTACCGGGAGGCGTCTGGAGGGCCGGTCAGCGCGGTAGCGCGGCGCTGGGGACTGGCTGGGTACCGCCCGAGGCGCGGAGAAGCGGGGTGACGGCACGGGCCAGGGGCGGCAGCGGCCGGGGGGCGCGCTCCTCTACGCGTCTCCGCAGCGCCTGCCGAACGCAGCCTCCAGCGCCGCCACAAATGGCCGTCTGGGGGCCGGGCTGCCAGGCTGAGGTGCTGCATATGCATGAGGGGGCGGGGAGGGGCGGGGCCGCGCCGCTTGGGGCTGAGGTTCGGGAGGTAACCCGGGCTTCAGACCCCCACGGACACACCGCTCTAATCCCTAGCCAGTGAGCGAGTGCGTGAGAGTGTGGGAGTGGGTGTCAGTTGGGAGTGGGACGAAGGCAGAAAGAGTGTGTCACCCTAATTGTCTATGTAAGGGATTGTGTGGATGAAAAATACAATATGTGACGGCGTGTGCGAAAAATAGGGCTGTTGGCATATTAACTCAATTTTATAGGAGAGTACATACCCTGCTTTAAGAGTACAGATGGTGACCATATTTGTGTGAAAAACAGTATGTGACAGTGATTGAGGATTAGAGCTGTGTCACAGTAATTGAGTGTGTGATGGGCTGGTGGTTGTGACAGTGTGAAGAATGGGACAGTGGCTGAGCATGGAGAATAAGTCAGTGATTGAGCTTGCATGGGCAAGACGGAATGTGACAGATTTTGTATGTGTCAGTACAGTGTCATAGTGGCTATGTTTATGTGTGACAAATGTGCAGTAATTGGATATGAGGAGTGTGAGTGCGAGGGGTTGAACTCCTGGCCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGTCACTGCACCCGGCCTCATGGGGTTTTTAATAAGAATTAAATGAGCACATAAAACAGTGCTGCTACACAGGAAGCATTTACAGCAATCTTGGAACATGACTGCAAGTTCTTGGACTTCACTTGGTAACTCATTTGGAACCAGTAGAATGCAGCAGAAGAGATGCTGCCTAATTTCCCAGGCTAGATCAGAAGAGGCCATGCAGCTGTTCTCTTGGTATTCTCACTCCGGGAGGAACAAAGTCAGAAGTTTGACTATCATAAGACTGCCATGCTAAAGAGGCTACATGTAGGCATGCCAGTCGAAGTCTGATTGATGGCCAGGAGCAACATGCCATTTAAAAAAAAAAAAAAAAAGTCCCACTGAGCTCCCACCAGATCACCAGCATCACCTGCCAGCCATCTAAGTGAGACATCTTGGACACTCAGCCTAATCGAGCCTTCCAATGACGGCATCCCCTGTTAGCATCTGAATGCAACTGCGTGAGAGACCCCAAGCAAAAATACCCATCCAGGCCAGCCCATCCTGAATTCCTTTTTTAAAAATCTTTTTTTTTTCTTTTTTGAGACAAGATCCCTCTGTCACCCAGGCTGAAGTGTAGTGGCACAATCATGGCCCACTGCAACCTCCAACTTCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCCTAGCAGCTGGGACTACAGGCACATGCCATCAAGATCAGGTAATTTTTTTTTTTTTAAGAGACAAGGTCTCTCTATGTTACCCAGGCTAGTCTCGAACTCCCAAAGTGCTGGGATGGCTGGGCGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCGGATCGCTTGAGCCCAGGAGTTCCAGACCAACCTGGCCAACATGGCTAAACGCATCTCTACTAAAAATACAAAAATTAGTCCGGAGTGGTGGCGTGCACTTGTACTCTCCGCTACTCCGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGAC
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Task1_train_15334
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A genomic change on Chromosome 11 affects LOC130005368, RRAS2 (ATAC-STARR-seq lymphoblastoid silent region 3172| RAS related 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Noonan syndrome 12
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CTTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGACGCCAGGCCCAATTACCGCTTTCTTAATGGTTTAATACCATTACTTCCCCAAAACAAAAAGGCCCAACACCTTAATTAATTAACATGGGCTCAAATAATTCAGATGGCCCCTTCCTCAAAAAAACGTAAATATTTGTGGTTCAAATCTTTTAAATAACACTACCAATATTGTAACCCAAGATTATTCTCCCACTCCTAGACTTCTCCTCCACTTATCCCCTCACCCCCACCCTCCCTCAGCCATCAGACTAGTCCCCAAAGGGTTAGCTATAAATTGTTTTGCTTTGCCATTAGATACGTACAATCTCTCTGCGCCCTAGGGAAATAGCAACCTGACAGCATCCCTGATTCTGTAGCCTGCTAAACTTAAACCAATCTCACCCCTTACTCAGTGATTTTTTTAACCCACTAATAAGCATACTGTAAATGCTCATTACATAAAACATCCTTTCTTCCTGGATTCAAAGGTTTTAGCAGCAGTAATCCAGGGAATATTATAGCAGCAATTATTGCTCATTTACTCAATGTGAAAGGTGACAATCACATTTGTTACAGTACTCAATATTTTAATGTCACTATAAACACTAAGTGAAATAAGCTATTCAGGTATCCCAATTAATGACAAATGGGTGAAAAGGAAACCAGACAAAAATATTTCACCGTTCATACTCTAGATACTGTGAAAAATATCCTTGTTTCCTGTTATAACAGGGTACCTTCGTTCTCTCCCAGCATATGCCACACCTTTTAGGTTGACAAAAGCAGAAAGACATCGGGGCTTTGTGTTTTAAAAATCCCAAAAAAGACTACTCAAACCTCTCCCCAAGAGCAAATTCTAAGAAGGAAGAATACCACCTCCCTTTTCTTTACCACAAACCCCTGACTTACCGTCTCTAGCAACCAGAGAGGGCTGGGGGTAGGGGAGAGGGTGGTTAGAAAACAGAACGCACGACTCGGTCATATCCTAGCCCGGCCCATCCCAAACTTCACCTAGGCACGGCGAGAAGCAGGACGGCATCAGGAATTCCTAGGAAATGGTCTCACCCCATCAGAGAACATTTTTAACTTCCTAGAAGCCACCATTTCCCCGGGGCATTATCACACACTCCCACCCGGACATATTACCTAAGAGAGTACTTATAAAAAGAGCGTAACACACACACAAAGAAATACACAGTACTTGAAGCGGGCAGCTCCGGCTCAGGCGGCGCGGGGAAGCCCGGAGACCACGCGGAGCCGCGGCCAAGTTGCCACCGCTATCGCCCCGACGGTGAAGGCGCGGCCGCAGGCGGCTGGAAAAGCAGCGCGCGGGGCTCCAGCTCCAGCCCCACGCCCGGACCCTCGGAGCAGTAAAGCCCGGCTCGGTGGCCCAGCCTCTCCCGGAGGTCTCTGGCCTCGGCCAGAGCAATAAGGTGGATCGGTGCTTCCCACCCTTCCAGCTCCGCCCTCCCGACCACATTCCTGAGAAGCCCTACTCCCGCGACGCCGCGCCCGGGAGGAGGCAGGAGCGCGACGCTGCGGCCGCAGGGCAGGAGCGTAGTCGGCCCCGCGCCCTCCCGCCCCCTGGCCCCGGCCCGGGCCCGCGAGGCGCCTCTGGGGCGAGGTCGCGGCGGCCGCCCCGCCACAGGTAGCGCCAGCCCCCGCCCGCCGCCGCTCCGGCGCCCCGGGCAGGCCCGCTCCAGGTACCTGGATGAACTGGATGGTGAGCGCCGACTTGCCCACGCCGCCCCCGCCGACCACCACGAGCCGGTACTTCTCCTGGCCGGAGCCGTCCCGCCAGCCGGCCGCGGCCATGGGGACGCTACAGAGCCCAGCCTGACTGCGCCGAGCCGCCGCTGCCGCCCGCCCTAGGCCCGGCTCCGGGGACGTGTGCGGCCGGCGGGCTGCGGGCGAGCGGCCGGGCTGGGGTCCCGGGTACCGGGAGGCGTCTGGAGGGCCGGTCAGCGCGGTAGCGCGGCGCTGGGGACTGGCTGGGTACCGCCCGAGGCGCGGAGAAGCGGGGTGACGGCACGGGCCAGGGGCGGCAGCGGCCGGGGGGCGCGCTCCTCTACGCGTCTCCGCAGCGCCTGCCGAACGCAGCCTCCAGCGCCGCCACAAATGGCCGTCTGGGGGCCGGGCTGCCAGGCTGAGGTGCTGCATATGCATGAGGGGGCGGGGAGGGGCGGGGCCGCGCCGCTTGGGGCTGAGGTTCGGGAGGTAACCCGGGCTTCAGACCCCCACGGACACACCGCTCTAATCCCTAGCCAGTGAGCGAGTGCGTGAGAGTGTGGGAGTGGGTGTCAGTTGGGAGTGGGACGAAGGCAGAAAGAGTGTGTCACCCTAATTGTCTATGTAAGGGATTGTGTGGATGAAAAATACAATATGTGACGGCGTGTGCGAAAAATAGGGCTGTTGGCATATTAACTCAATTTTATAGGAGAGTACATACCCTGCTTTAAGAGTACAGATGGTGACCATATTTGTGTGAAAAACAGTATGTGACAGTGATTGAGGATTAGAGCTGTGTCACAGTAATTGAGTGTGTGATGGGCTGGTGGTTGTGACAGTGTGAAGAATGGGACAGTGGCTGAGCATGGAGAATAAGTCAGTGATTGAGCTTGCATGGGCAAGACGGAATGTGACAGATTTTGTATGTGTCAGTACAGTGTCATAGTGGCTATGTTTATGTGTGACAAATGTGCAGTAATTGGATATGAGGAGTGTGAGTGCGAGGGGTTGAACTCCTGGCCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGTCACTGCACCCGGCCTCATGGGGTTTTTAATAAGAATTAAATGAGCACATAAAACAGTGCTGCTACACAGGAAGCATTTACAGCAATCTTGGAACATGACTGCAAGTTCTTGGACTTCACTTGGTAACTCATTTGGAACCAGTAGAATGCAGCAGAAGAGATGCTGCCTAATTTCCCAGGCTAGATCAGAAGAGGCCATGCAGCTGTTCTCTTGGTATTCTCACTCCGGGAGGAACAAAGTCAGAAGTTTGACTATCATAAGACTGCCATGCTAAAGAGGCTACATGTAGGCATGCCAGTCGAAGTCTGATTGATGGCCAGGAGCAACATGCCATTTAAAAAAAAAAAAAAAAAGTCCCACTGAGCTCCCACCAGATCACCAGCATCACCTGCCAGCCATCTAAGTGAGACATCTTGGACACTCAGCCTAATCGAGCCTTCCAATGACGGCATCCCCTGTTAGCATCTGAATGCAACTGCGTGAGAGACCCCAAGCAAAAATACCCATCCAGGCCAGCCCATCCTGAATTCCTTTTTTAAAAATCTTTTTTTTTTCTTTTTTGAGACAAGATCCCTCTGTCACCCAGGCTGAAGTGTAGTGGCACAATCATGGCCCACTGCAACCTCCAACTTCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCCTAGCAGCTGGGACTACAGGCACATGCCATCAAGATCAGGTAATTTTTTTTTTTTTAAGAGACAAGGTCTCTCTATGTTACCCAGGCTAGTCTCGAACTCCCAAAGTGCTGGGATGGCTGGGCGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCGGATCGCTTGAGCCCAGGAGTTCCAGACCAACCTGGCCAACATGGCTAAACGCATCTCTACTAAAAATACAAAAATTAGTCCGGAGTGGTGGCGTGCACTTGTACTCTCCGCTACTCCGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGAC
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CTTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGACGCCAGGCCCAATTACCGCTTTCTTAATGGTTTAATACCATTACTTCCCCAAAACAAAAAGGCCCAACACCTTAATTAATTAACATGGGCTCAAATAATTCAGATGGCCCCTTCCTCAAAAAAACGTAAATATTTGTGGTTCAAATCTTTTAAATAACACTACCAATATTGTAACCCAAGATTATTCTCCCACTCCTAGACTTCTCCTCCACTTATCCCCTCACCCCCACCCTCCCTCAGCCATCAGACTAGTCCCCAAAGGGTTAGCTATAAATTGTTTTGCTTTGCCATTAGATACGTACAATCTCTCTGCGCCCTAGGGAAATAGCAACCTGACAGCATCCCTGATTCTGTAGCCTGCTAAACTTAAACCAATCTCACCCCTTACTCAGTGATTTTTTTAACCCACTAATAAGCATACTGTAAATGCTCATTACATAAAACATCCTTTCTTCCTGGATTCAAAGGTTTTAGCAGCAGTAATCCAGGGAATATTATAGCAGCAATTATTGCTCATTTACTCAATGTGAAAGGTGACAATCACATTTGTTACAGTACTCAATATTTTAATGTCACTATAAACACTAAGTGAAATAAGCTATTCAGGTATCCCAATTAATGACAAATGGGTGAAAAGGAAACCAGACAAAAATATTTCACCGTTCATACTCTAGATACTGTGAAAAATATCCTTGTTTCCTGTTATAACAGGGTACCTTCGTTCTCTCCCAGCATATGCCACACCTTTTAGGTTGACAAAAGCAGAAAGACATCGGGGCTTTGTGTTTTAAAAATCCCAAAAAAGACTACTCAAACCTCTCCCCAAGAGCAAATTCTAAGAAGGAAGAATACCACCTCCCTTTTCTTTACCACAAACCCCTGACTTACCGTCTCTAGCAACCAGAGAGGGCTGGGGGTAGGGGAGAGGGTGGTTAGAAAACAGAACGCACGACTCGGTCATATCCTAGCCCGGCCCATCCCAAACTTCACCTAGGCACGGCGAGAAGCAGGACGGCATCAGGAATTCCTAGGAAATGGTCTCACCCCATCAGAGAACATTTTTAACTTCCTAGAAGCCACCATTTCCCCGGGGCATTATCACACACTCCCACCCGGACATATTACCTAAGAGAGTACTTATAAAAAGAGCGTAACACACACACAAAGAAATACACAGTACTTGAAGCGGGCAGCTCCGGCTCAGGCGGCGCGGGGAAGCCCGGAGACCACGCGGAGCCGCGGCCAAGTTGCCACCGCTATCGCCCCGACGGTGAAGGCGCGGCCGCAGGCGGCTGGAAAAGCAGCGCGCGGGGCTCCAGCTCCAGCCCCACGCCCGGACCCTCGGAGCAGTAAAGCCCGGCTCGGTGGCCCAGCCTCTCCCGGAGGTCTCTGGCCTCGGCCAGAGCAATAAGGTGGATCGGTGCTTCCCACCCTTCCAGCTCCGCCCTCCCGACCACATTCCTGAGAAGCCCTACTCCCGCGACGCCGCGCCCGGGAGGAGGCAGGAGCGCGACGCTGCGGCCGCAGGGCAGGAGCGTAGTCGGCCCCGCGCCCTCCCGCCCCCTGGCCCCGGCCCGGGCCCGCGAGGCGCCTCTGGGGCGAGGTCGCGGCGGCCGCCCCGCCACAGGTAGCGCCAGCCCCCGCCCGCCGCCGCTCCGGCGCCCCGGGCAGGCCCGCTCCAGGTACCTGGATGAACTGGATGGTGAGCGCCGACTTGCCCACGCCGTCCCCGCCGACCACCACGAGCCGGTACTTCTCCTGGCCGGAGCCGTCCCGCCAGCCGGCCGCGGCCATGGGGACGCTACAGAGCCCAGCCTGACTGCGCCGAGCCGCCGCTGCCGCCCGCCCTAGGCCCGGCTCCGGGGACGTGTGCGGCCGGCGGGCTGCGGGCGAGCGGCCGGGCTGGGGTCCCGGGTACCGGGAGGCGTCTGGAGGGCCGGTCAGCGCGGTAGCGCGGCGCTGGGGACTGGCTGGGTACCGCCCGAGGCGCGGAGAAGCGGGGTGACGGCACGGGCCAGGGGCGGCAGCGGCCGGGGGGCGCGCTCCTCTACGCGTCTCCGCAGCGCCTGCCGAACGCAGCCTCCAGCGCCGCCACAAATGGCCGTCTGGGGGCCGGGCTGCCAGGCTGAGGTGCTGCATATGCATGAGGGGGCGGGGAGGGGCGGGGCCGCGCCGCTTGGGGCTGAGGTTCGGGAGGTAACCCGGGCTTCAGACCCCCACGGACACACCGCTCTAATCCCTAGCCAGTGAGCGAGTGCGTGAGAGTGTGGGAGTGGGTGTCAGTTGGGAGTGGGACGAAGGCAGAAAGAGTGTGTCACCCTAATTGTCTATGTAAGGGATTGTGTGGATGAAAAATACAATATGTGACGGCGTGTGCGAAAAATAGGGCTGTTGGCATATTAACTCAATTTTATAGGAGAGTACATACCCTGCTTTAAGAGTACAGATGGTGACCATATTTGTGTGAAAAACAGTATGTGACAGTGATTGAGGATTAGAGCTGTGTCACAGTAATTGAGTGTGTGATGGGCTGGTGGTTGTGACAGTGTGAAGAATGGGACAGTGGCTGAGCATGGAGAATAAGTCAGTGATTGAGCTTGCATGGGCAAGACGGAATGTGACAGATTTTGTATGTGTCAGTACAGTGTCATAGTGGCTATGTTTATGTGTGACAAATGTGCAGTAATTGGATATGAGGAGTGTGAGTGCGAGGGGTTGAACTCCTGGCCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGTCACTGCACCCGGCCTCATGGGGTTTTTAATAAGAATTAAATGAGCACATAAAACAGTGCTGCTACACAGGAAGCATTTACAGCAATCTTGGAACATGACTGCAAGTTCTTGGACTTCACTTGGTAACTCATTTGGAACCAGTAGAATGCAGCAGAAGAGATGCTGCCTAATTTCCCAGGCTAGATCAGAAGAGGCCATGCAGCTGTTCTCTTGGTATTCTCACTCCGGGAGGAACAAAGTCAGAAGTTTGACTATCATAAGACTGCCATGCTAAAGAGGCTACATGTAGGCATGCCAGTCGAAGTCTGATTGATGGCCAGGAGCAACATGCCATTTAAAAAAAAAAAAAAAAAGTCCCACTGAGCTCCCACCAGATCACCAGCATCACCTGCCAGCCATCTAAGTGAGACATCTTGGACACTCAGCCTAATCGAGCCTTCCAATGACGGCATCCCCTGTTAGCATCTGAATGCAACTGCGTGAGAGACCCCAAGCAAAAATACCCATCCAGGCCAGCCCATCCTGAATTCCTTTTTTAAAAATCTTTTTTTTTTCTTTTTTGAGACAAGATCCCTCTGTCACCCAGGCTGAAGTGTAGTGGCACAATCATGGCCCACTGCAACCTCCAACTTCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCCTAGCAGCTGGGACTACAGGCACATGCCATCAAGATCAGGTAATTTTTTTTTTTTTAAGAGACAAGGTCTCTCTATGTTACCCAGGCTAGTCTCGAACTCCCAAAGTGCTGGGATGGCTGGGCGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCGGATCGCTTGAGCCCAGGAGTTCCAGACCAACCTGGCCAACATGGCTAAACGCATCTCTACTAAAAATACAAAAATTAGTCCGGAGTGGTGGCGTGCACTTGTACTCTCCGCTACTCCGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGAC
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Task1_train_15335
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Mutation context: Chromosome 11, Gene LOC130005368, RRAS2 (ATAC-STARR-seq lymphoblastoid silent region 3172| RAS related 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Noonan syndrome
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TTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGACGCCAGGCCCAATTACCGCTTTCTTAATGGTTTAATACCATTACTTCCCCAAAACAAAAAGGCCCAACACCTTAATTAATTAACATGGGCTCAAATAATTCAGATGGCCCCTTCCTCAAAAAAACGTAAATATTTGTGGTTCAAATCTTTTAAATAACACTACCAATATTGTAACCCAAGATTATTCTCCCACTCCTAGACTTCTCCTCCACTTATCCCCTCACCCCCACCCTCCCTCAGCCATCAGACTAGTCCCCAAAGGGTTAGCTATAAATTGTTTTGCTTTGCCATTAGATACGTACAATCTCTCTGCGCCCTAGGGAAATAGCAACCTGACAGCATCCCTGATTCTGTAGCCTGCTAAACTTAAACCAATCTCACCCCTTACTCAGTGATTTTTTTAACCCACTAATAAGCATACTGTAAATGCTCATTACATAAAACATCCTTTCTTCCTGGATTCAAAGGTTTTAGCAGCAGTAATCCAGGGAATATTATAGCAGCAATTATTGCTCATTTACTCAATGTGAAAGGTGACAATCACATTTGTTACAGTACTCAATATTTTAATGTCACTATAAACACTAAGTGAAATAAGCTATTCAGGTATCCCAATTAATGACAAATGGGTGAAAAGGAAACCAGACAAAAATATTTCACCGTTCATACTCTAGATACTGTGAAAAATATCCTTGTTTCCTGTTATAACAGGGTACCTTCGTTCTCTCCCAGCATATGCCACACCTTTTAGGTTGACAAAAGCAGAAAGACATCGGGGCTTTGTGTTTTAAAAATCCCAAAAAAGACTACTCAAACCTCTCCCCAAGAGCAAATTCTAAGAAGGAAGAATACCACCTCCCTTTTCTTTACCACAAACCCCTGACTTACCGTCTCTAGCAACCAGAGAGGGCTGGGGGTAGGGGAGAGGGTGGTTAGAAAACAGAACGCACGACTCGGTCATATCCTAGCCCGGCCCATCCCAAACTTCACCTAGGCACGGCGAGAAGCAGGACGGCATCAGGAATTCCTAGGAAATGGTCTCACCCCATCAGAGAACATTTTTAACTTCCTAGAAGCCACCATTTCCCCGGGGCATTATCACACACTCCCACCCGGACATATTACCTAAGAGAGTACTTATAAAAAGAGCGTAACACACACACAAAGAAATACACAGTACTTGAAGCGGGCAGCTCCGGCTCAGGCGGCGCGGGGAAGCCCGGAGACCACGCGGAGCCGCGGCCAAGTTGCCACCGCTATCGCCCCGACGGTGAAGGCGCGGCCGCAGGCGGCTGGAAAAGCAGCGCGCGGGGCTCCAGCTCCAGCCCCACGCCCGGACCCTCGGAGCAGTAAAGCCCGGCTCGGTGGCCCAGCCTCTCCCGGAGGTCTCTGGCCTCGGCCAGAGCAATAAGGTGGATCGGTGCTTCCCACCCTTCCAGCTCCGCCCTCCCGACCACATTCCTGAGAAGCCCTACTCCCGCGACGCCGCGCCCGGGAGGAGGCAGGAGCGCGACGCTGCGGCCGCAGGGCAGGAGCGTAGTCGGCCCCGCGCCCTCCCGCCCCCTGGCCCCGGCCCGGGCCCGCGAGGCGCCTCTGGGGCGAGGTCGCGGCGGCCGCCCCGCCACAGGTAGCGCCAGCCCCCGCCCGCCGCCGCTCCGGCGCCCCGGGCAGGCCCGCTCCAGGTACCTGGATGAACTGGATGGTGAGCGCCGACTTGCCCACGCCGCCCCCGCCGACCACCACGAGCCGGTACTTCTCCTGGCCGGAGCCGTCCCGCCAGCCGGCCGCGGCCATGGGGACGCTACAGAGCCCAGCCTGACTGCGCCGAGCCGCCGCTGCCGCCCGCCCTAGGCCCGGCTCCGGGGACGTGTGCGGCCGGCGGGCTGCGGGCGAGCGGCCGGGCTGGGGTCCCGGGTACCGGGAGGCGTCTGGAGGGCCGGTCAGCGCGGTAGCGCGGCGCTGGGGACTGGCTGGGTACCGCCCGAGGCGCGGAGAAGCGGGGTGACGGCACGGGCCAGGGGCGGCAGCGGCCGGGGGGCGCGCTCCTCTACGCGTCTCCGCAGCGCCTGCCGAACGCAGCCTCCAGCGCCGCCACAAATGGCCGTCTGGGGGCCGGGCTGCCAGGCTGAGGTGCTGCATATGCATGAGGGGGCGGGGAGGGGCGGGGCCGCGCCGCTTGGGGCTGAGGTTCGGGAGGTAACCCGGGCTTCAGACCCCCACGGACACACCGCTCTAATCCCTAGCCAGTGAGCGAGTGCGTGAGAGTGTGGGAGTGGGTGTCAGTTGGGAGTGGGACGAAGGCAGAAAGAGTGTGTCACCCTAATTGTCTATGTAAGGGATTGTGTGGATGAAAAATACAATATGTGACGGCGTGTGCGAAAAATAGGGCTGTTGGCATATTAACTCAATTTTATAGGAGAGTACATACCCTGCTTTAAGAGTACAGATGGTGACCATATTTGTGTGAAAAACAGTATGTGACAGTGATTGAGGATTAGAGCTGTGTCACAGTAATTGAGTGTGTGATGGGCTGGTGGTTGTGACAGTGTGAAGAATGGGACAGTGGCTGAGCATGGAGAATAAGTCAGTGATTGAGCTTGCATGGGCAAGACGGAATGTGACAGATTTTGTATGTGTCAGTACAGTGTCATAGTGGCTATGTTTATGTGTGACAAATGTGCAGTAATTGGATATGAGGAGTGTGAGTGCGAGGGGTTGAACTCCTGGCCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGTCACTGCACCCGGCCTCATGGGGTTTTTAATAAGAATTAAATGAGCACATAAAACAGTGCTGCTACACAGGAAGCATTTACAGCAATCTTGGAACATGACTGCAAGTTCTTGGACTTCACTTGGTAACTCATTTGGAACCAGTAGAATGCAGCAGAAGAGATGCTGCCTAATTTCCCAGGCTAGATCAGAAGAGGCCATGCAGCTGTTCTCTTGGTATTCTCACTCCGGGAGGAACAAAGTCAGAAGTTTGACTATCATAAGACTGCCATGCTAAAGAGGCTACATGTAGGCATGCCAGTCGAAGTCTGATTGATGGCCAGGAGCAACATGCCATTTAAAAAAAAAAAAAAAAAGTCCCACTGAGCTCCCACCAGATCACCAGCATCACCTGCCAGCCATCTAAGTGAGACATCTTGGACACTCAGCCTAATCGAGCCTTCCAATGACGGCATCCCCTGTTAGCATCTGAATGCAACTGCGTGAGAGACCCCAAGCAAAAATACCCATCCAGGCCAGCCCATCCTGAATTCCTTTTTTAAAAATCTTTTTTTTTTCTTTTTTGAGACAAGATCCCTCTGTCACCCAGGCTGAAGTGTAGTGGCACAATCATGGCCCACTGCAACCTCCAACTTCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCCTAGCAGCTGGGACTACAGGCACATGCCATCAAGATCAGGTAATTTTTTTTTTTTTAAGAGACAAGGTCTCTCTATGTTACCCAGGCTAGTCTCGAACTCCCAAAGTGCTGGGATGGCTGGGCGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCGGATCGCTTGAGCCCAGGAGTTCCAGACCAACCTGGCCAACATGGCTAAACGCATCTCTACTAAAAATACAAAAATTAGTCCGGAGTGGTGGCGTGCACTTGTACTCTCCGCTACTCCGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGACG
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TTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGACGCCAGGCCCAATTACCGCTTTCTTAATGGTTTAATACCATTACTTCCCCAAAACAAAAAGGCCCAACACCTTAATTAATTAACATGGGCTCAAATAATTCAGATGGCCCCTTCCTCAAAAAAACGTAAATATTTGTGGTTCAAATCTTTTAAATAACACTACCAATATTGTAACCCAAGATTATTCTCCCACTCCTAGACTTCTCCTCCACTTATCCCCTCACCCCCACCCTCCCTCAGCCATCAGACTAGTCCCCAAAGGGTTAGCTATAAATTGTTTTGCTTTGCCATTAGATACGTACAATCTCTCTGCGCCCTAGGGAAATAGCAACCTGACAGCATCCCTGATTCTGTAGCCTGCTAAACTTAAACCAATCTCACCCCTTACTCAGTGATTTTTTTAACCCACTAATAAGCATACTGTAAATGCTCATTACATAAAACATCCTTTCTTCCTGGATTCAAAGGTTTTAGCAGCAGTAATCCAGGGAATATTATAGCAGCAATTATTGCTCATTTACTCAATGTGAAAGGTGACAATCACATTTGTTACAGTACTCAATATTTTAATGTCACTATAAACACTAAGTGAAATAAGCTATTCAGGTATCCCAATTAATGACAAATGGGTGAAAAGGAAACCAGACAAAAATATTTCACCGTTCATACTCTAGATACTGTGAAAAATATCCTTGTTTCCTGTTATAACAGGGTACCTTCGTTCTCTCCCAGCATATGCCACACCTTTTAGGTTGACAAAAGCAGAAAGACATCGGGGCTTTGTGTTTTAAAAATCCCAAAAAAGACTACTCAAACCTCTCCCCAAGAGCAAATTCTAAGAAGGAAGAATACCACCTCCCTTTTCTTTACCACAAACCCCTGACTTACCGTCTCTAGCAACCAGAGAGGGCTGGGGGTAGGGGAGAGGGTGGTTAGAAAACAGAACGCACGACTCGGTCATATCCTAGCCCGGCCCATCCCAAACTTCACCTAGGCACGGCGAGAAGCAGGACGGCATCAGGAATTCCTAGGAAATGGTCTCACCCCATCAGAGAACATTTTTAACTTCCTAGAAGCCACCATTTCCCCGGGGCATTATCACACACTCCCACCCGGACATATTACCTAAGAGAGTACTTATAAAAAGAGCGTAACACACACACAAAGAAATACACAGTACTTGAAGCGGGCAGCTCCGGCTCAGGCGGCGCGGGGAAGCCCGGAGACCACGCGGAGCCGCGGCCAAGTTGCCACCGCTATCGCCCCGACGGTGAAGGCGCGGCCGCAGGCGGCTGGAAAAGCAGCGCGCGGGGCTCCAGCTCCAGCCCCACGCCCGGACCCTCGGAGCAGTAAAGCCCGGCTCGGTGGCCCAGCCTCTCCCGGAGGTCTCTGGCCTCGGCCAGAGCAATAAGGTGGATCGGTGCTTCCCACCCTTCCAGCTCCGCCCTCCCGACCACATTCCTGAGAAGCCCTACTCCCGCGACGCCGCGCCCGGGAGGAGGCAGGAGCGCGACGCTGCGGCCGCAGGGCAGGAGCGTAGTCGGCCCCGCGCCCTCCCGCCCCCTGGCCCCGGCCCGGGCCCGCGAGGCGCCTCTGGGGCGAGGTCGCGGCGGCCGCCCCGCCACAGGTAGCGCCAGCCCCCGCCCGCCGCCGCTCCGGCGCCCCGGGCAGGCCCGCTCCAGGTACCTGGATGAACTGGATGGTGAGCGCCGACTTGCCCACGCCGCACCCGCCGACCACCACGAGCCGGTACTTCTCCTGGCCGGAGCCGTCCCGCCAGCCGGCCGCGGCCATGGGGACGCTACAGAGCCCAGCCTGACTGCGCCGAGCCGCCGCTGCCGCCCGCCCTAGGCCCGGCTCCGGGGACGTGTGCGGCCGGCGGGCTGCGGGCGAGCGGCCGGGCTGGGGTCCCGGGTACCGGGAGGCGTCTGGAGGGCCGGTCAGCGCGGTAGCGCGGCGCTGGGGACTGGCTGGGTACCGCCCGAGGCGCGGAGAAGCGGGGTGACGGCACGGGCCAGGGGCGGCAGCGGCCGGGGGGCGCGCTCCTCTACGCGTCTCCGCAGCGCCTGCCGAACGCAGCCTCCAGCGCCGCCACAAATGGCCGTCTGGGGGCCGGGCTGCCAGGCTGAGGTGCTGCATATGCATGAGGGGGCGGGGAGGGGCGGGGCCGCGCCGCTTGGGGCTGAGGTTCGGGAGGTAACCCGGGCTTCAGACCCCCACGGACACACCGCTCTAATCCCTAGCCAGTGAGCGAGTGCGTGAGAGTGTGGGAGTGGGTGTCAGTTGGGAGTGGGACGAAGGCAGAAAGAGTGTGTCACCCTAATTGTCTATGTAAGGGATTGTGTGGATGAAAAATACAATATGTGACGGCGTGTGCGAAAAATAGGGCTGTTGGCATATTAACTCAATTTTATAGGAGAGTACATACCCTGCTTTAAGAGTACAGATGGTGACCATATTTGTGTGAAAAACAGTATGTGACAGTGATTGAGGATTAGAGCTGTGTCACAGTAATTGAGTGTGTGATGGGCTGGTGGTTGTGACAGTGTGAAGAATGGGACAGTGGCTGAGCATGGAGAATAAGTCAGTGATTGAGCTTGCATGGGCAAGACGGAATGTGACAGATTTTGTATGTGTCAGTACAGTGTCATAGTGGCTATGTTTATGTGTGACAAATGTGCAGTAATTGGATATGAGGAGTGTGAGTGCGAGGGGTTGAACTCCTGGCCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGTCACTGCACCCGGCCTCATGGGGTTTTTAATAAGAATTAAATGAGCACATAAAACAGTGCTGCTACACAGGAAGCATTTACAGCAATCTTGGAACATGACTGCAAGTTCTTGGACTTCACTTGGTAACTCATTTGGAACCAGTAGAATGCAGCAGAAGAGATGCTGCCTAATTTCCCAGGCTAGATCAGAAGAGGCCATGCAGCTGTTCTCTTGGTATTCTCACTCCGGGAGGAACAAAGTCAGAAGTTTGACTATCATAAGACTGCCATGCTAAAGAGGCTACATGTAGGCATGCCAGTCGAAGTCTGATTGATGGCCAGGAGCAACATGCCATTTAAAAAAAAAAAAAAAAAGTCCCACTGAGCTCCCACCAGATCACCAGCATCACCTGCCAGCCATCTAAGTGAGACATCTTGGACACTCAGCCTAATCGAGCCTTCCAATGACGGCATCCCCTGTTAGCATCTGAATGCAACTGCGTGAGAGACCCCAAGCAAAAATACCCATCCAGGCCAGCCCATCCTGAATTCCTTTTTTAAAAATCTTTTTTTTTTCTTTTTTGAGACAAGATCCCTCTGTCACCCAGGCTGAAGTGTAGTGGCACAATCATGGCCCACTGCAACCTCCAACTTCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCCTAGCAGCTGGGACTACAGGCACATGCCATCAAGATCAGGTAATTTTTTTTTTTTTAAGAGACAAGGTCTCTCTATGTTACCCAGGCTAGTCTCGAACTCCCAAAGTGCTGGGATGGCTGGGCGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCGGATCGCTTGAGCCCAGGAGTTCCAGACCAACCTGGCCAACATGGCTAAACGCATCTCTACTAAAAATACAAAAATTAGTCCGGAGTGGTGGCGTGCACTTGTACTCTCCGCTACTCCGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGACG
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Task1_train_15336
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This is a variant in COPB1 (COPI coat complex subunit beta 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Skeletal dysplasia
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TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAAAAAGCTAATATTGTCACCAAAAGCATAGGCAATAAAAGAAAAAATAGATTAAACATCAAAATTAAACACTTTTATGCATCAAATATTATCAACAGAATGAAAAGGCAACTCACAGAATGGAAGAAAATATTTGCAAATCATGTATCTGATAAGGGGGTTAGTATCCAGAATATTAATAACTCCTAAAATTCAAACAAAAAAAACCAACAACCCAATTTAAAAATAGGCACAGGACTTGAACAAACATTTCTCCAAAGAAAATATACAAATGGCCAATAAGCACGTGAAAAGACACTCATCATCACTAATCATTAGGAAAATGCAAATCAAAACCACAATGAGATACCACTTCACATACCCATTAAGATGGCTATCATCAAAAAAAAACAAAACAAGTGTTGGCAAGGATATGGAGAAATTGGAACTCTTGTGCACTGCTGGTAAGAATGTAAAATAGTGTAGCTACCATGAAAAACACAATGGAGGTTCCTCAAAAAATTAAAAGTACAATTATCATATGATCCAGCAATTCTGCTTCTAGATATATACCCAAAAGAACTAAAAGCAGGGACTTGAACAGATATTTGTACATCTGTGTTAACAGCAGCATTCTTCACAGTAACCAAAAGGCAGAAGCAATGCACATATCCAGGGATGGATATATGGATAAACAAAATGTGGCATATACTTACAATGTAATATTATTCAGCCTTAATAAGGCAGGAAATTCTGATACATGCTATGACATGAATGAATCTTGAAGACATTATACTGAGTGAAATATGCCAGTCACAAAAGGAAAAATACTGTATTGTTCCACTTCTGTGAGGTACTTAAAATAGTCAAAATCACAGAGACACAAAGTAGAATGGTGGCTAGGGGTAAGTAGAGGTTGAGGGGAAGTAGGAATGACGAGTTATTGTTTAATGGACATAGTTTCAGCTTTGCAAGATGAAAACAGTCCTGGAGATGGCTGCATAACAATATGAATTTAATTAATGCCACAGAACTGTACACTTACAAATGGGTTAAAATGGCAAATCTTTTGCAACTTTAACTATAATTCAAAAAAACTAAAAAAATTTTATAAATGTAATATTATTGATATCAATTCCCAATTTTAAGGGAGGGAAATTGTTTTAGTAATTCCAATTCTGCTACTGACCTTATCTTAAACAAAAGTAATGTAAGACTGTTCATTCAGTCTAATAGATGAGGGATCACTGATTCTTAAATTTATATATTTAAGAGAGTAGAATCATTTTCCTAATAAAATTCTATATGGAACTCGATATATTAAGAATATAAAAGTAGAACTGCTCTGTTTAAAGTAGCAGAGAATAAGAGAAGGTGAGGTCAAGGTGTGGGAAGAGGCCAGGGCTGTTGCCTGTTCAGCTTCCCTTTAAAAACCTCAGCTAACCTTTAAGGATCCCCTTCCCTCAACTTCTATTTATTGGTCTATGATTCCAGACACAACTGGATCGAGTTAAACCATCTGATGGACTTACAGTACTATCACATATAGTAGTAAGGTACTTCATCAGCTTCTGAGTTTCAACTGAGGTTTAATGGACCTATCACAGTGACTTGACAAAATAGTTATCTTTCTTTTAAAAATAGCAGCACTAACAACTTCCTTAAGGAGTCGATTTAAATAATTTAGAGTCTATCAGACATTTTGTTACCTTGTTAAGTTTAGATGCTAGGGGATCTGCTGCCTCTTTCCTCTGTGTGTTACCCATTGCTGCCAGTAAACTCAGCTGAAACTGATCTTCCTTGCAGTTCATTTCATTCTTAGCAGTTAGTTGCATGAAGGAAATGGGGTCATCAGGCTGTACTGTCACATTCCTCTTTTCAGATTCTTTCTGTGTTGAGAATATAACAAAGTCTCTCTTTAATATGAAAAGATAGTTTTTTAGAGGCTTTTGACAGAGACAGCCCTCACATATGAAAACTGAAAAATCAACAAAACAACAAGAAAACCCACAAAGCACTTTTCTTTTCTTTTTTTTCTTCCTGAGACAGGCTGTTACTCTGTTGCCCAGGCGGAGTGCAGTGGTATGATCACAGCTCACTGCAGCCTCGAACTCTTAGATTCAAACGATCCTTCATCCTCAGCCTTCCAAGTAGCTGGAATGACAGGCACATACCACCATGCCTGGCTAATTTTCTCATTTTTTTTGTTGAGACAGGGGCTTGCTATGTAGCCCACACTGGTCTCAAACACCTGGCCCCAAGGAGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACGAAGAGACACAAAACACTTTTGTTGCCTCATCATATATACCTTACCTTTTGGGATAATTTCTCTTCTTCTAGTTTAGCAGATAACATGTGAGAAAGGGACTGTCTGCATTCCTTATTGAAAATGTCATTCATTAAAGGTGAACATTCAGACAAGACCTTGAGGCACAGGGAAATTCGATCCACATCATCATCAGTAATTGGCTTCTTAGGAAGAGAGGATTTTCCCAAATGCAGGATAGTAGCCATGAGCAACATAGCCTCAGCAACAAAAGACTAAGAAAGTAAAGAAATCGGTTACTGATATTGTCTTGATTCTCAGATTGCAATCATGTCACTTCATTATAACTCACAATCTAAATTTTCACTTCACCTGAATAAGATTTCAAATTCTTTGGATTTTATGTCCATATCTGTTTTTGCATTCTTCTCCTTCCTTTCTACTCTTAACTGCCACTCTCTAAGACCTGCATTAATCCTCAATTAGAGACAGCAGAGGCTTTTTAACTGTTTTCCCTTGCTCCAGTCCTTCTCTGTAACCACTTCATATGCTGATGCTGTCCTTTTTAATCCCAACTACAGAAAAGTTAAAAGAATGATATACTTTACCAATTGTTAACATTTTGCCACATTTGCTTACCTATTCTGTATATGTACACTTATTTTTTTTGGCTGACATGTGAAAAAGTCTTCACCTCATAAATGCTTCAGCATTCATCTCCTAAGAGTCAGAACAGTTTCCTACAAACCACAATTTCATTTTCTCATCTGAAAAATTCAACAATTCCAAAATACAGCTTCTATACTCTGAATTCAAATAAATCTCCCTAAATTGTCTTAAAATGTTTTTGTTTTATTTTTTAAATCCAGGATCAGCTTCATGCATTTTATCCCTCTTAATCTAGACCAGTTCTCTGCCGTTTTGTTTTTAATCGCACTAACTTTTTTAAAGAACTGAGGCCAGTTGTTTTATAGAATATCCCACACTTTTGATTAGAATACCAGATAGGTGATGTTTTGTATTTCACCCTGTACTGCATCACAAGGTACCTAAAGTTAGGCTGTCCAATTATTGTGCTGCTAAGCGTGATCACCTGATGCTGCTATCTTAATCTTTATACTGCACCAATCATTTCATTCCCTATGTAAATACCTTTAATGAATGTCAGCCTTCATACTGAAGTCCGTATTACTTAGCTCGCTATTCAAAGTCTTCCACAAGTGATTGCAACTTACTTTTTTAGTCTCATGTAGCATTATCCTGACACATATGCTCTAAGCCCTTGCCAAATTGCCTTTGGCTGAGTACTGATCTGCACACATGCATGAAAAACTACTGGAGGCCTGGGAAAAACCAGCAGAAGAGTAAGTATATGTCCCCCAAGTTTGGATACTGTCTCCAAAAGGAGAGGAAAGAGAGGAGGGGACAGAAAAAAAAATCCGAGGAAATGACTGAAAATTTCCCAAACTGATGGAGATATAAA
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TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAAAAAGCTAATATTGTCACCAAAAGCATAGGCAATAAAAGAAAAAATAGATTAAACATCAAAATTAAACACTTTTATGCATCAAATATTATCAACAGAATGAAAAGGCAACTCACAGAATGGAAGAAAATATTTGCAAATCATGTATCTGATAAGGGGGTTAGTATCCAGAATATTAATAACTCCTAAAATTCAAACAAAAAAAACCAACAACCCAATTTAAAAATAGGCACAGGACTTGAACAAACATTTCTCCAAAGAAAATATACAAATGGCCAATAAGCACGTGAAAAGACACTCATCATCACTAATCATTAGGAAAATGCAAATCAAAACCACAATGAGATACCACTTCACATACCCATTAAGATGGCTATCATCAAAAAAAAACAAAACAAGTGTTGGCAAGGATATGGAGAAATTGGAACTCTTGTGCACTGCTGGTAAGAATGTAAAATAGTGTAGCTACCATGAAAAACACAATGGAGGTTCCTCAAAAAATTAAAAGTACAATTATCATATGATCCAGCAATTCTGCTTCTAGATATATACCCAAAAGAACTAAAAGCAGGGACTTGAACAGATATTTGTACATCTGTGTTAACAGCAGCATTCTTCACAGTAACCAAAAGGCAGAAGCAATGCACATATCCAGGGATGGATATATGGATAAACAAAATGTGGCATATACTTACAATGTAATATTATTCAGCCTTAATAAGGCAGGAAATTCTGATACATGCTATGACATGAATGAATCTTGAAGACATTATACTGAGTGAAATATGCCAGTCACAAAAGGAAAAATACTGTATTGTTCCACTTCTGTGAGGTACTTAAAATAGTCAAAATCACAGAGACACAAAGTAGAATGGTGGCTAGGGGTAAGTAGAGGTTGAGGGGAAGTAGGAATGACGAGTTATTGTTTAATGGACATAGTTTCAGCTTTGCAAGATGAAAACAGTCCTGGAGATGGCTGCATAACAATATGAATTTAATTAATGCCACAGAACTGTACACTTACAAATGGGTTAAAATGGCAAATCTTTTGCAACTTTAACTATAATTCAAAAAAACTAAAAAAATTTTATAAATGTAATATTATTGATATCAATTCCCAATTTTAAGGGAGGGAAATTGTTTTAGTAATTCCAATTCTGCTACTGACCTTATCTTAAACAAAAGTAATGTAAGACTGTTCATTCAGTCTAATAGATGAGGGATCACTGATTCTTAAATTTATATATTTAAGAGAGTAGAATCATTTTCCTAATAAAATTCTATATGGAACTCGATATATTAAGAATATAAAAGTAGAACTGCTCTGTTTAAAGTAGCAGAGAATAAGAGAAGGTGAGGTCAAGGTGTGGGAAGAGGCCAGGGCTGTTGCCTGTTCAGCTTCCCTTTAAAAACCTCAGCTAACCTTTAAGGATCCCCTTCCCTCAACTTCTATTTATTGGTCTATGATTCCAGACACAACTGGATCGAGTTAAACCATCTGATGGACTTACAGTACTATCACATATAGTAGTAAGGTACTTCATCAGCTTCTGAGTTTCAACTGAGGTTTAATGGACCTATCACAGTGACTTGACAAAATAGTTATCTTTCTTTTAAAAATAGCAGCACTAACAACTTCCTTAAGGAGTCGATTTAAATAATTTAGAGTCTATCAGACATTTTGTTACCTTGTTAAGTTTAGATGCTAGGGGATCTGCTGCCTCTTTCCTCCGTGTGTTACCCATTGCTGCCAGTAAACTCAGCTGAAACTGATCTTCCTTGCAGTTCATTTCATTCTTAGCAGTTAGTTGCATGAAGGAAATGGGGTCATCAGGCTGTACTGTCACATTCCTCTTTTCAGATTCTTTCTGTGTTGAGAATATAACAAAGTCTCTCTTTAATATGAAAAGATAGTTTTTTAGAGGCTTTTGACAGAGACAGCCCTCACATATGAAAACTGAAAAATCAACAAAACAACAAGAAAACCCACAAAGCACTTTTCTTTTCTTTTTTTTCTTCCTGAGACAGGCTGTTACTCTGTTGCCCAGGCGGAGTGCAGTGGTATGATCACAGCTCACTGCAGCCTCGAACTCTTAGATTCAAACGATCCTTCATCCTCAGCCTTCCAAGTAGCTGGAATGACAGGCACATACCACCATGCCTGGCTAATTTTCTCATTTTTTTTGTTGAGACAGGGGCTTGCTATGTAGCCCACACTGGTCTCAAACACCTGGCCCCAAGGAGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACGAAGAGACACAAAACACTTTTGTTGCCTCATCATATATACCTTACCTTTTGGGATAATTTCTCTTCTTCTAGTTTAGCAGATAACATGTGAGAAAGGGACTGTCTGCATTCCTTATTGAAAATGTCATTCATTAAAGGTGAACATTCAGACAAGACCTTGAGGCACAGGGAAATTCGATCCACATCATCATCAGTAATTGGCTTCTTAGGAAGAGAGGATTTTCCCAAATGCAGGATAGTAGCCATGAGCAACATAGCCTCAGCAACAAAAGACTAAGAAAGTAAAGAAATCGGTTACTGATATTGTCTTGATTCTCAGATTGCAATCATGTCACTTCATTATAACTCACAATCTAAATTTTCACTTCACCTGAATAAGATTTCAAATTCTTTGGATTTTATGTCCATATCTGTTTTTGCATTCTTCTCCTTCCTTTCTACTCTTAACTGCCACTCTCTAAGACCTGCATTAATCCTCAATTAGAGACAGCAGAGGCTTTTTAACTGTTTTCCCTTGCTCCAGTCCTTCTCTGTAACCACTTCATATGCTGATGCTGTCCTTTTTAATCCCAACTACAGAAAAGTTAAAAGAATGATATACTTTACCAATTGTTAACATTTTGCCACATTTGCTTACCTATTCTGTATATGTACACTTATTTTTTTTGGCTGACATGTGAAAAAGTCTTCACCTCATAAATGCTTCAGCATTCATCTCCTAAGAGTCAGAACAGTTTCCTACAAACCACAATTTCATTTTCTCATCTGAAAAATTCAACAATTCCAAAATACAGCTTCTATACTCTGAATTCAAATAAATCTCCCTAAATTGTCTTAAAATGTTTTTGTTTTATTTTTTAAATCCAGGATCAGCTTCATGCATTTTATCCCTCTTAATCTAGACCAGTTCTCTGCCGTTTTGTTTTTAATCGCACTAACTTTTTTAAAGAACTGAGGCCAGTTGTTTTATAGAATATCCCACACTTTTGATTAGAATACCAGATAGGTGATGTTTTGTATTTCACCCTGTACTGCATCACAAGGTACCTAAAGTTAGGCTGTCCAATTATTGTGCTGCTAAGCGTGATCACCTGATGCTGCTATCTTAATCTTTATACTGCACCAATCATTTCATTCCCTATGTAAATACCTTTAATGAATGTCAGCCTTCATACTGAAGTCCGTATTACTTAGCTCGCTATTCAAAGTCTTCCACAAGTGATTGCAACTTACTTTTTTAGTCTCATGTAGCATTATCCTGACACATATGCTCTAAGCCCTTGCCAAATTGCCTTTGGCTGAGTACTGATCTGCACACATGCATGAAAAACTACTGGAGGCCTGGGAAAAACCAGCAGAAGAGTAAGTATATGTCCCCCAAGTTTGGATACTGTCTCCAAAAGGAGAGGAAAGAGAGGAGGGGACAGAAAAAAAAATCCGAGGAAATGACTGAAAATTTCCCAAACTGATGGAGATATAAA
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Task1_train_15337
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A variant found in Chromosome 11 affects COPB1 (COPI coat complex subunit beta 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Short stature
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TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAAAAAGCTAATATTGTCACCAAAAGCATAGGCAATAAAAGAAAAAATAGATTAAACATCAAAATTAAACACTTTTATGCATCAAATATTATCAACAGAATGAAAAGGCAACTCACAGAATGGAAGAAAATATTTGCAAATCATGTATCTGATAAGGGGGTTAGTATCCAGAATATTAATAACTCCTAAAATTCAAACAAAAAAAACCAACAACCCAATTTAAAAATAGGCACAGGACTTGAACAAACATTTCTCCAAAGAAAATATACAAATGGCCAATAAGCACGTGAAAAGACACTCATCATCACTAATCATTAGGAAAATGCAAATCAAAACCACAATGAGATACCACTTCACATACCCATTAAGATGGCTATCATCAAAAAAAAACAAAACAAGTGTTGGCAAGGATATGGAGAAATTGGAACTCTTGTGCACTGCTGGTAAGAATGTAAAATAGTGTAGCTACCATGAAAAACACAATGGAGGTTCCTCAAAAAATTAAAAGTACAATTATCATATGATCCAGCAATTCTGCTTCTAGATATATACCCAAAAGAACTAAAAGCAGGGACTTGAACAGATATTTGTACATCTGTGTTAACAGCAGCATTCTTCACAGTAACCAAAAGGCAGAAGCAATGCACATATCCAGGGATGGATATATGGATAAACAAAATGTGGCATATACTTACAATGTAATATTATTCAGCCTTAATAAGGCAGGAAATTCTGATACATGCTATGACATGAATGAATCTTGAAGACATTATACTGAGTGAAATATGCCAGTCACAAAAGGAAAAATACTGTATTGTTCCACTTCTGTGAGGTACTTAAAATAGTCAAAATCACAGAGACACAAAGTAGAATGGTGGCTAGGGGTAAGTAGAGGTTGAGGGGAAGTAGGAATGACGAGTTATTGTTTAATGGACATAGTTTCAGCTTTGCAAGATGAAAACAGTCCTGGAGATGGCTGCATAACAATATGAATTTAATTAATGCCACAGAACTGTACACTTACAAATGGGTTAAAATGGCAAATCTTTTGCAACTTTAACTATAATTCAAAAAAACTAAAAAAATTTTATAAATGTAATATTATTGATATCAATTCCCAATTTTAAGGGAGGGAAATTGTTTTAGTAATTCCAATTCTGCTACTGACCTTATCTTAAACAAAAGTAATGTAAGACTGTTCATTCAGTCTAATAGATGAGGGATCACTGATTCTTAAATTTATATATTTAAGAGAGTAGAATCATTTTCCTAATAAAATTCTATATGGAACTCGATATATTAAGAATATAAAAGTAGAACTGCTCTGTTTAAAGTAGCAGAGAATAAGAGAAGGTGAGGTCAAGGTGTGGGAAGAGGCCAGGGCTGTTGCCTGTTCAGCTTCCCTTTAAAAACCTCAGCTAACCTTTAAGGATCCCCTTCCCTCAACTTCTATTTATTGGTCTATGATTCCAGACACAACTGGATCGAGTTAAACCATCTGATGGACTTACAGTACTATCACATATAGTAGTAAGGTACTTCATCAGCTTCTGAGTTTCAACTGAGGTTTAATGGACCTATCACAGTGACTTGACAAAATAGTTATCTTTCTTTTAAAAATAGCAGCACTAACAACTTCCTTAAGGAGTCGATTTAAATAATTTAGAGTCTATCAGACATTTTGTTACCTTGTTAAGTTTAGATGCTAGGGGATCTGCTGCCTCTTTCCTCTGTGTGTTACCCATTGCTGCCAGTAAACTCAGCTGAAACTGATCTTCCTTGCAGTTCATTTCATTCTTAGCAGTTAGTTGCATGAAGGAAATGGGGTCATCAGGCTGTACTGTCACATTCCTCTTTTCAGATTCTTTCTGTGTTGAGAATATAACAAAGTCTCTCTTTAATATGAAAAGATAGTTTTTTAGAGGCTTTTGACAGAGACAGCCCTCACATATGAAAACTGAAAAATCAACAAAACAACAAGAAAACCCACAAAGCACTTTTCTTTTCTTTTTTTTCTTCCTGAGACAGGCTGTTACTCTGTTGCCCAGGCGGAGTGCAGTGGTATGATCACAGCTCACTGCAGCCTCGAACTCTTAGATTCAAACGATCCTTCATCCTCAGCCTTCCAAGTAGCTGGAATGACAGGCACATACCACCATGCCTGGCTAATTTTCTCATTTTTTTTGTTGAGACAGGGGCTTGCTATGTAGCCCACACTGGTCTCAAACACCTGGCCCCAAGGAGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACGAAGAGACACAAAACACTTTTGTTGCCTCATCATATATACCTTACCTTTTGGGATAATTTCTCTTCTTCTAGTTTAGCAGATAACATGTGAGAAAGGGACTGTCTGCATTCCTTATTGAAAATGTCATTCATTAAAGGTGAACATTCAGACAAGACCTTGAGGCACAGGGAAATTCGATCCACATCATCATCAGTAATTGGCTTCTTAGGAAGAGAGGATTTTCCCAAATGCAGGATAGTAGCCATGAGCAACATAGCCTCAGCAACAAAAGACTAAGAAAGTAAAGAAATCGGTTACTGATATTGTCTTGATTCTCAGATTGCAATCATGTCACTTCATTATAACTCACAATCTAAATTTTCACTTCACCTGAATAAGATTTCAAATTCTTTGGATTTTATGTCCATATCTGTTTTTGCATTCTTCTCCTTCCTTTCTACTCTTAACTGCCACTCTCTAAGACCTGCATTAATCCTCAATTAGAGACAGCAGAGGCTTTTTAACTGTTTTCCCTTGCTCCAGTCCTTCTCTGTAACCACTTCATATGCTGATGCTGTCCTTTTTAATCCCAACTACAGAAAAGTTAAAAGAATGATATACTTTACCAATTGTTAACATTTTGCCACATTTGCTTACCTATTCTGTATATGTACACTTATTTTTTTTGGCTGACATGTGAAAAAGTCTTCACCTCATAAATGCTTCAGCATTCATCTCCTAAGAGTCAGAACAGTTTCCTACAAACCACAATTTCATTTTCTCATCTGAAAAATTCAACAATTCCAAAATACAGCTTCTATACTCTGAATTCAAATAAATCTCCCTAAATTGTCTTAAAATGTTTTTGTTTTATTTTTTAAATCCAGGATCAGCTTCATGCATTTTATCCCTCTTAATCTAGACCAGTTCTCTGCCGTTTTGTTTTTAATCGCACTAACTTTTTTAAAGAACTGAGGCCAGTTGTTTTATAGAATATCCCACACTTTTGATTAGAATACCAGATAGGTGATGTTTTGTATTTCACCCTGTACTGCATCACAAGGTACCTAAAGTTAGGCTGTCCAATTATTGTGCTGCTAAGCGTGATCACCTGATGCTGCTATCTTAATCTTTATACTGCACCAATCATTTCATTCCCTATGTAAATACCTTTAATGAATGTCAGCCTTCATACTGAAGTCCGTATTACTTAGCTCGCTATTCAAAGTCTTCCACAAGTGATTGCAACTTACTTTTTTAGTCTCATGTAGCATTATCCTGACACATATGCTCTAAGCCCTTGCCAAATTGCCTTTGGCTGAGTACTGATCTGCACACATGCATGAAAAACTACTGGAGGCCTGGGAAAAACCAGCAGAAGAGTAAGTATATGTCCCCCAAGTTTGGATACTGTCTCCAAAAGGAGAGGAAAGAGAGGAGGGGACAGAAAAAAAAATCCGAGGAAATGACTGAAAATTTCCCAAACTGATGGAGATATAAA
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TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAAAAAGCTAATATTGTCACCAAAAGCATAGGCAATAAAAGAAAAAATAGATTAAACATCAAAATTAAACACTTTTATGCATCAAATATTATCAACAGAATGAAAAGGCAACTCACAGAATGGAAGAAAATATTTGCAAATCATGTATCTGATAAGGGGGTTAGTATCCAGAATATTAATAACTCCTAAAATTCAAACAAAAAAAACCAACAACCCAATTTAAAAATAGGCACAGGACTTGAACAAACATTTCTCCAAAGAAAATATACAAATGGCCAATAAGCACGTGAAAAGACACTCATCATCACTAATCATTAGGAAAATGCAAATCAAAACCACAATGAGATACCACTTCACATACCCATTAAGATGGCTATCATCAAAAAAAAACAAAACAAGTGTTGGCAAGGATATGGAGAAATTGGAACTCTTGTGCACTGCTGGTAAGAATGTAAAATAGTGTAGCTACCATGAAAAACACAATGGAGGTTCCTCAAAAAATTAAAAGTACAATTATCATATGATCCAGCAATTCTGCTTCTAGATATATACCCAAAAGAACTAAAAGCAGGGACTTGAACAGATATTTGTACATCTGTGTTAACAGCAGCATTCTTCACAGTAACCAAAAGGCAGAAGCAATGCACATATCCAGGGATGGATATATGGATAAACAAAATGTGGCATATACTTACAATGTAATATTATTCAGCCTTAATAAGGCAGGAAATTCTGATACATGCTATGACATGAATGAATCTTGAAGACATTATACTGAGTGAAATATGCCAGTCACAAAAGGAAAAATACTGTATTGTTCCACTTCTGTGAGGTACTTAAAATAGTCAAAATCACAGAGACACAAAGTAGAATGGTGGCTAGGGGTAAGTAGAGGTTGAGGGGAAGTAGGAATGACGAGTTATTGTTTAATGGACATAGTTTCAGCTTTGCAAGATGAAAACAGTCCTGGAGATGGCTGCATAACAATATGAATTTAATTAATGCCACAGAACTGTACACTTACAAATGGGTTAAAATGGCAAATCTTTTGCAACTTTAACTATAATTCAAAAAAACTAAAAAAATTTTATAAATGTAATATTATTGATATCAATTCCCAATTTTAAGGGAGGGAAATTGTTTTAGTAATTCCAATTCTGCTACTGACCTTATCTTAAACAAAAGTAATGTAAGACTGTTCATTCAGTCTAATAGATGAGGGATCACTGATTCTTAAATTTATATATTTAAGAGAGTAGAATCATTTTCCTAATAAAATTCTATATGGAACTCGATATATTAAGAATATAAAAGTAGAACTGCTCTGTTTAAAGTAGCAGAGAATAAGAGAAGGTGAGGTCAAGGTGTGGGAAGAGGCCAGGGCTGTTGCCTGTTCAGCTTCCCTTTAAAAACCTCAGCTAACCTTTAAGGATCCCCTTCCCTCAACTTCTATTTATTGGTCTATGATTCCAGACACAACTGGATCGAGTTAAACCATCTGATGGACTTACAGTACTATCACATATAGTAGTAAGGTACTTCATCAGCTTCTGAGTTTCAACTGAGGTTTAATGGACCTATCACAGTGACTTGACAAAATAGTTATCTTTCTTTTAAAAATAGCAGCACTAACAACTTCCTTAAGGAGTCGATTTAAATAATTTAGAGTCTATCAGACATTTTGTTACCTTGTTAAGTTTAGATGCTAGGGGATCTGCTGCCTCTTTCCTCCGTGTGTTACCCATTGCTGCCAGTAAACTCAGCTGAAACTGATCTTCCTTGCAGTTCATTTCATTCTTAGCAGTTAGTTGCATGAAGGAAATGGGGTCATCAGGCTGTACTGTCACATTCCTCTTTTCAGATTCTTTCTGTGTTGAGAATATAACAAAGTCTCTCTTTAATATGAAAAGATAGTTTTTTAGAGGCTTTTGACAGAGACAGCCCTCACATATGAAAACTGAAAAATCAACAAAACAACAAGAAAACCCACAAAGCACTTTTCTTTTCTTTTTTTTCTTCCTGAGACAGGCTGTTACTCTGTTGCCCAGGCGGAGTGCAGTGGTATGATCACAGCTCACTGCAGCCTCGAACTCTTAGATTCAAACGATCCTTCATCCTCAGCCTTCCAAGTAGCTGGAATGACAGGCACATACCACCATGCCTGGCTAATTTTCTCATTTTTTTTGTTGAGACAGGGGCTTGCTATGTAGCCCACACTGGTCTCAAACACCTGGCCCCAAGGAGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACGAAGAGACACAAAACACTTTTGTTGCCTCATCATATATACCTTACCTTTTGGGATAATTTCTCTTCTTCTAGTTTAGCAGATAACATGTGAGAAAGGGACTGTCTGCATTCCTTATTGAAAATGTCATTCATTAAAGGTGAACATTCAGACAAGACCTTGAGGCACAGGGAAATTCGATCCACATCATCATCAGTAATTGGCTTCTTAGGAAGAGAGGATTTTCCCAAATGCAGGATAGTAGCCATGAGCAACATAGCCTCAGCAACAAAAGACTAAGAAAGTAAAGAAATCGGTTACTGATATTGTCTTGATTCTCAGATTGCAATCATGTCACTTCATTATAACTCACAATCTAAATTTTCACTTCACCTGAATAAGATTTCAAATTCTTTGGATTTTATGTCCATATCTGTTTTTGCATTCTTCTCCTTCCTTTCTACTCTTAACTGCCACTCTCTAAGACCTGCATTAATCCTCAATTAGAGACAGCAGAGGCTTTTTAACTGTTTTCCCTTGCTCCAGTCCTTCTCTGTAACCACTTCATATGCTGATGCTGTCCTTTTTAATCCCAACTACAGAAAAGTTAAAAGAATGATATACTTTACCAATTGTTAACATTTTGCCACATTTGCTTACCTATTCTGTATATGTACACTTATTTTTTTTGGCTGACATGTGAAAAAGTCTTCACCTCATAAATGCTTCAGCATTCATCTCCTAAGAGTCAGAACAGTTTCCTACAAACCACAATTTCATTTTCTCATCTGAAAAATTCAACAATTCCAAAATACAGCTTCTATACTCTGAATTCAAATAAATCTCCCTAAATTGTCTTAAAATGTTTTTGTTTTATTTTTTAAATCCAGGATCAGCTTCATGCATTTTATCCCTCTTAATCTAGACCAGTTCTCTGCCGTTTTGTTTTTAATCGCACTAACTTTTTTAAAGAACTGAGGCCAGTTGTTTTATAGAATATCCCACACTTTTGATTAGAATACCAGATAGGTGATGTTTTGTATTTCACCCTGTACTGCATCACAAGGTACCTAAAGTTAGGCTGTCCAATTATTGTGCTGCTAAGCGTGATCACCTGATGCTGCTATCTTAATCTTTATACTGCACCAATCATTTCATTCCCTATGTAAATACCTTTAATGAATGTCAGCCTTCATACTGAAGTCCGTATTACTTAGCTCGCTATTCAAAGTCTTCCACAAGTGATTGCAACTTACTTTTTTAGTCTCATGTAGCATTATCCTGACACATATGCTCTAAGCCCTTGCCAAATTGCCTTTGGCTGAGTACTGATCTGCACACATGCATGAAAAACTACTGGAGGCCTGGGAAAAACCAGCAGAAGAGTAAGTATATGTCCCCCAAGTTTGGATACTGTCTCCAAAAGGAGAGGAAAGAGAGGAGGGGACAGAAAAAAAAATCCGAGGAAATGACTGAAAATTTCCCAAACTGATGGAGATATAAA
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Task1_train_15338
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This mutation occurs in COPB1 (COPI coat complex subunit beta 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Failure to thrive
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TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAAAAAGCTAATATTGTCACCAAAAGCATAGGCAATAAAAGAAAAAATAGATTAAACATCAAAATTAAACACTTTTATGCATCAAATATTATCAACAGAATGAAAAGGCAACTCACAGAATGGAAGAAAATATTTGCAAATCATGTATCTGATAAGGGGGTTAGTATCCAGAATATTAATAACTCCTAAAATTCAAACAAAAAAAACCAACAACCCAATTTAAAAATAGGCACAGGACTTGAACAAACATTTCTCCAAAGAAAATATACAAATGGCCAATAAGCACGTGAAAAGACACTCATCATCACTAATCATTAGGAAAATGCAAATCAAAACCACAATGAGATACCACTTCACATACCCATTAAGATGGCTATCATCAAAAAAAAACAAAACAAGTGTTGGCAAGGATATGGAGAAATTGGAACTCTTGTGCACTGCTGGTAAGAATGTAAAATAGTGTAGCTACCATGAAAAACACAATGGAGGTTCCTCAAAAAATTAAAAGTACAATTATCATATGATCCAGCAATTCTGCTTCTAGATATATACCCAAAAGAACTAAAAGCAGGGACTTGAACAGATATTTGTACATCTGTGTTAACAGCAGCATTCTTCACAGTAACCAAAAGGCAGAAGCAATGCACATATCCAGGGATGGATATATGGATAAACAAAATGTGGCATATACTTACAATGTAATATTATTCAGCCTTAATAAGGCAGGAAATTCTGATACATGCTATGACATGAATGAATCTTGAAGACATTATACTGAGTGAAATATGCCAGTCACAAAAGGAAAAATACTGTATTGTTCCACTTCTGTGAGGTACTTAAAATAGTCAAAATCACAGAGACACAAAGTAGAATGGTGGCTAGGGGTAAGTAGAGGTTGAGGGGAAGTAGGAATGACGAGTTATTGTTTAATGGACATAGTTTCAGCTTTGCAAGATGAAAACAGTCCTGGAGATGGCTGCATAACAATATGAATTTAATTAATGCCACAGAACTGTACACTTACAAATGGGTTAAAATGGCAAATCTTTTGCAACTTTAACTATAATTCAAAAAAACTAAAAAAATTTTATAAATGTAATATTATTGATATCAATTCCCAATTTTAAGGGAGGGAAATTGTTTTAGTAATTCCAATTCTGCTACTGACCTTATCTTAAACAAAAGTAATGTAAGACTGTTCATTCAGTCTAATAGATGAGGGATCACTGATTCTTAAATTTATATATTTAAGAGAGTAGAATCATTTTCCTAATAAAATTCTATATGGAACTCGATATATTAAGAATATAAAAGTAGAACTGCTCTGTTTAAAGTAGCAGAGAATAAGAGAAGGTGAGGTCAAGGTGTGGGAAGAGGCCAGGGCTGTTGCCTGTTCAGCTTCCCTTTAAAAACCTCAGCTAACCTTTAAGGATCCCCTTCCCTCAACTTCTATTTATTGGTCTATGATTCCAGACACAACTGGATCGAGTTAAACCATCTGATGGACTTACAGTACTATCACATATAGTAGTAAGGTACTTCATCAGCTTCTGAGTTTCAACTGAGGTTTAATGGACCTATCACAGTGACTTGACAAAATAGTTATCTTTCTTTTAAAAATAGCAGCACTAACAACTTCCTTAAGGAGTCGATTTAAATAATTTAGAGTCTATCAGACATTTTGTTACCTTGTTAAGTTTAGATGCTAGGGGATCTGCTGCCTCTTTCCTCTGTGTGTTACCCATTGCTGCCAGTAAACTCAGCTGAAACTGATCTTCCTTGCAGTTCATTTCATTCTTAGCAGTTAGTTGCATGAAGGAAATGGGGTCATCAGGCTGTACTGTCACATTCCTCTTTTCAGATTCTTTCTGTGTTGAGAATATAACAAAGTCTCTCTTTAATATGAAAAGATAGTTTTTTAGAGGCTTTTGACAGAGACAGCCCTCACATATGAAAACTGAAAAATCAACAAAACAACAAGAAAACCCACAAAGCACTTTTCTTTTCTTTTTTTTCTTCCTGAGACAGGCTGTTACTCTGTTGCCCAGGCGGAGTGCAGTGGTATGATCACAGCTCACTGCAGCCTCGAACTCTTAGATTCAAACGATCCTTCATCCTCAGCCTTCCAAGTAGCTGGAATGACAGGCACATACCACCATGCCTGGCTAATTTTCTCATTTTTTTTGTTGAGACAGGGGCTTGCTATGTAGCCCACACTGGTCTCAAACACCTGGCCCCAAGGAGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACGAAGAGACACAAAACACTTTTGTTGCCTCATCATATATACCTTACCTTTTGGGATAATTTCTCTTCTTCTAGTTTAGCAGATAACATGTGAGAAAGGGACTGTCTGCATTCCTTATTGAAAATGTCATTCATTAAAGGTGAACATTCAGACAAGACCTTGAGGCACAGGGAAATTCGATCCACATCATCATCAGTAATTGGCTTCTTAGGAAGAGAGGATTTTCCCAAATGCAGGATAGTAGCCATGAGCAACATAGCCTCAGCAACAAAAGACTAAGAAAGTAAAGAAATCGGTTACTGATATTGTCTTGATTCTCAGATTGCAATCATGTCACTTCATTATAACTCACAATCTAAATTTTCACTTCACCTGAATAAGATTTCAAATTCTTTGGATTTTATGTCCATATCTGTTTTTGCATTCTTCTCCTTCCTTTCTACTCTTAACTGCCACTCTCTAAGACCTGCATTAATCCTCAATTAGAGACAGCAGAGGCTTTTTAACTGTTTTCCCTTGCTCCAGTCCTTCTCTGTAACCACTTCATATGCTGATGCTGTCCTTTTTAATCCCAACTACAGAAAAGTTAAAAGAATGATATACTTTACCAATTGTTAACATTTTGCCACATTTGCTTACCTATTCTGTATATGTACACTTATTTTTTTTGGCTGACATGTGAAAAAGTCTTCACCTCATAAATGCTTCAGCATTCATCTCCTAAGAGTCAGAACAGTTTCCTACAAACCACAATTTCATTTTCTCATCTGAAAAATTCAACAATTCCAAAATACAGCTTCTATACTCTGAATTCAAATAAATCTCCCTAAATTGTCTTAAAATGTTTTTGTTTTATTTTTTAAATCCAGGATCAGCTTCATGCATTTTATCCCTCTTAATCTAGACCAGTTCTCTGCCGTTTTGTTTTTAATCGCACTAACTTTTTTAAAGAACTGAGGCCAGTTGTTTTATAGAATATCCCACACTTTTGATTAGAATACCAGATAGGTGATGTTTTGTATTTCACCCTGTACTGCATCACAAGGTACCTAAAGTTAGGCTGTCCAATTATTGTGCTGCTAAGCGTGATCACCTGATGCTGCTATCTTAATCTTTATACTGCACCAATCATTTCATTCCCTATGTAAATACCTTTAATGAATGTCAGCCTTCATACTGAAGTCCGTATTACTTAGCTCGCTATTCAAAGTCTTCCACAAGTGATTGCAACTTACTTTTTTAGTCTCATGTAGCATTATCCTGACACATATGCTCTAAGCCCTTGCCAAATTGCCTTTGGCTGAGTACTGATCTGCACACATGCATGAAAAACTACTGGAGGCCTGGGAAAAACCAGCAGAAGAGTAAGTATATGTCCCCCAAGTTTGGATACTGTCTCCAAAAGGAGAGGAAAGAGAGGAGGGGACAGAAAAAAAAATCCGAGGAAATGACTGAAAATTTCCCAAACTGATGGAGATATAAA
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TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAAAAAGCTAATATTGTCACCAAAAGCATAGGCAATAAAAGAAAAAATAGATTAAACATCAAAATTAAACACTTTTATGCATCAAATATTATCAACAGAATGAAAAGGCAACTCACAGAATGGAAGAAAATATTTGCAAATCATGTATCTGATAAGGGGGTTAGTATCCAGAATATTAATAACTCCTAAAATTCAAACAAAAAAAACCAACAACCCAATTTAAAAATAGGCACAGGACTTGAACAAACATTTCTCCAAAGAAAATATACAAATGGCCAATAAGCACGTGAAAAGACACTCATCATCACTAATCATTAGGAAAATGCAAATCAAAACCACAATGAGATACCACTTCACATACCCATTAAGATGGCTATCATCAAAAAAAAACAAAACAAGTGTTGGCAAGGATATGGAGAAATTGGAACTCTTGTGCACTGCTGGTAAGAATGTAAAATAGTGTAGCTACCATGAAAAACACAATGGAGGTTCCTCAAAAAATTAAAAGTACAATTATCATATGATCCAGCAATTCTGCTTCTAGATATATACCCAAAAGAACTAAAAGCAGGGACTTGAACAGATATTTGTACATCTGTGTTAACAGCAGCATTCTTCACAGTAACCAAAAGGCAGAAGCAATGCACATATCCAGGGATGGATATATGGATAAACAAAATGTGGCATATACTTACAATGTAATATTATTCAGCCTTAATAAGGCAGGAAATTCTGATACATGCTATGACATGAATGAATCTTGAAGACATTATACTGAGTGAAATATGCCAGTCACAAAAGGAAAAATACTGTATTGTTCCACTTCTGTGAGGTACTTAAAATAGTCAAAATCACAGAGACACAAAGTAGAATGGTGGCTAGGGGTAAGTAGAGGTTGAGGGGAAGTAGGAATGACGAGTTATTGTTTAATGGACATAGTTTCAGCTTTGCAAGATGAAAACAGTCCTGGAGATGGCTGCATAACAATATGAATTTAATTAATGCCACAGAACTGTACACTTACAAATGGGTTAAAATGGCAAATCTTTTGCAACTTTAACTATAATTCAAAAAAACTAAAAAAATTTTATAAATGTAATATTATTGATATCAATTCCCAATTTTAAGGGAGGGAAATTGTTTTAGTAATTCCAATTCTGCTACTGACCTTATCTTAAACAAAAGTAATGTAAGACTGTTCATTCAGTCTAATAGATGAGGGATCACTGATTCTTAAATTTATATATTTAAGAGAGTAGAATCATTTTCCTAATAAAATTCTATATGGAACTCGATATATTAAGAATATAAAAGTAGAACTGCTCTGTTTAAAGTAGCAGAGAATAAGAGAAGGTGAGGTCAAGGTGTGGGAAGAGGCCAGGGCTGTTGCCTGTTCAGCTTCCCTTTAAAAACCTCAGCTAACCTTTAAGGATCCCCTTCCCTCAACTTCTATTTATTGGTCTATGATTCCAGACACAACTGGATCGAGTTAAACCATCTGATGGACTTACAGTACTATCACATATAGTAGTAAGGTACTTCATCAGCTTCTGAGTTTCAACTGAGGTTTAATGGACCTATCACAGTGACTTGACAAAATAGTTATCTTTCTTTTAAAAATAGCAGCACTAACAACTTCCTTAAGGAGTCGATTTAAATAATTTAGAGTCTATCAGACATTTTGTTACCTTGTTAAGTTTAGATGCTAGGGGATCTGCTGCCTCTTTCCTCCGTGTGTTACCCATTGCTGCCAGTAAACTCAGCTGAAACTGATCTTCCTTGCAGTTCATTTCATTCTTAGCAGTTAGTTGCATGAAGGAAATGGGGTCATCAGGCTGTACTGTCACATTCCTCTTTTCAGATTCTTTCTGTGTTGAGAATATAACAAAGTCTCTCTTTAATATGAAAAGATAGTTTTTTAGAGGCTTTTGACAGAGACAGCCCTCACATATGAAAACTGAAAAATCAACAAAACAACAAGAAAACCCACAAAGCACTTTTCTTTTCTTTTTTTTCTTCCTGAGACAGGCTGTTACTCTGTTGCCCAGGCGGAGTGCAGTGGTATGATCACAGCTCACTGCAGCCTCGAACTCTTAGATTCAAACGATCCTTCATCCTCAGCCTTCCAAGTAGCTGGAATGACAGGCACATACCACCATGCCTGGCTAATTTTCTCATTTTTTTTGTTGAGACAGGGGCTTGCTATGTAGCCCACACTGGTCTCAAACACCTGGCCCCAAGGAGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACGAAGAGACACAAAACACTTTTGTTGCCTCATCATATATACCTTACCTTTTGGGATAATTTCTCTTCTTCTAGTTTAGCAGATAACATGTGAGAAAGGGACTGTCTGCATTCCTTATTGAAAATGTCATTCATTAAAGGTGAACATTCAGACAAGACCTTGAGGCACAGGGAAATTCGATCCACATCATCATCAGTAATTGGCTTCTTAGGAAGAGAGGATTTTCCCAAATGCAGGATAGTAGCCATGAGCAACATAGCCTCAGCAACAAAAGACTAAGAAAGTAAAGAAATCGGTTACTGATATTGTCTTGATTCTCAGATTGCAATCATGTCACTTCATTATAACTCACAATCTAAATTTTCACTTCACCTGAATAAGATTTCAAATTCTTTGGATTTTATGTCCATATCTGTTTTTGCATTCTTCTCCTTCCTTTCTACTCTTAACTGCCACTCTCTAAGACCTGCATTAATCCTCAATTAGAGACAGCAGAGGCTTTTTAACTGTTTTCCCTTGCTCCAGTCCTTCTCTGTAACCACTTCATATGCTGATGCTGTCCTTTTTAATCCCAACTACAGAAAAGTTAAAAGAATGATATACTTTACCAATTGTTAACATTTTGCCACATTTGCTTACCTATTCTGTATATGTACACTTATTTTTTTTGGCTGACATGTGAAAAAGTCTTCACCTCATAAATGCTTCAGCATTCATCTCCTAAGAGTCAGAACAGTTTCCTACAAACCACAATTTCATTTTCTCATCTGAAAAATTCAACAATTCCAAAATACAGCTTCTATACTCTGAATTCAAATAAATCTCCCTAAATTGTCTTAAAATGTTTTTGTTTTATTTTTTAAATCCAGGATCAGCTTCATGCATTTTATCCCTCTTAATCTAGACCAGTTCTCTGCCGTTTTGTTTTTAATCGCACTAACTTTTTTAAAGAACTGAGGCCAGTTGTTTTATAGAATATCCCACACTTTTGATTAGAATACCAGATAGGTGATGTTTTGTATTTCACCCTGTACTGCATCACAAGGTACCTAAAGTTAGGCTGTCCAATTATTGTGCTGCTAAGCGTGATCACCTGATGCTGCTATCTTAATCTTTATACTGCACCAATCATTTCATTCCCTATGTAAATACCTTTAATGAATGTCAGCCTTCATACTGAAGTCCGTATTACTTAGCTCGCTATTCAAAGTCTTCCACAAGTGATTGCAACTTACTTTTTTAGTCTCATGTAGCATTATCCTGACACATATGCTCTAAGCCCTTGCCAAATTGCCTTTGGCTGAGTACTGATCTGCACACATGCATGAAAAACTACTGGAGGCCTGGGAAAAACCAGCAGAAGAGTAAGTATATGTCCCCCAAGTTTGGATACTGTCTCCAAAAGGAGAGGAAAGAGAGGAGGGGACAGAAAAAAAAATCCGAGGAAATGACTGAAAATTTCCCAAACTGATGGAGATATAAA
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Task1_train_15339
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This is a variant in COPB1 (COPI coat complex subunit beta 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Delayed speech and language development
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TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAAAAAGCTAATATTGTCACCAAAAGCATAGGCAATAAAAGAAAAAATAGATTAAACATCAAAATTAAACACTTTTATGCATCAAATATTATCAACAGAATGAAAAGGCAACTCACAGAATGGAAGAAAATATTTGCAAATCATGTATCTGATAAGGGGGTTAGTATCCAGAATATTAATAACTCCTAAAATTCAAACAAAAAAAACCAACAACCCAATTTAAAAATAGGCACAGGACTTGAACAAACATTTCTCCAAAGAAAATATACAAATGGCCAATAAGCACGTGAAAAGACACTCATCATCACTAATCATTAGGAAAATGCAAATCAAAACCACAATGAGATACCACTTCACATACCCATTAAGATGGCTATCATCAAAAAAAAACAAAACAAGTGTTGGCAAGGATATGGAGAAATTGGAACTCTTGTGCACTGCTGGTAAGAATGTAAAATAGTGTAGCTACCATGAAAAACACAATGGAGGTTCCTCAAAAAATTAAAAGTACAATTATCATATGATCCAGCAATTCTGCTTCTAGATATATACCCAAAAGAACTAAAAGCAGGGACTTGAACAGATATTTGTACATCTGTGTTAACAGCAGCATTCTTCACAGTAACCAAAAGGCAGAAGCAATGCACATATCCAGGGATGGATATATGGATAAACAAAATGTGGCATATACTTACAATGTAATATTATTCAGCCTTAATAAGGCAGGAAATTCTGATACATGCTATGACATGAATGAATCTTGAAGACATTATACTGAGTGAAATATGCCAGTCACAAAAGGAAAAATACTGTATTGTTCCACTTCTGTGAGGTACTTAAAATAGTCAAAATCACAGAGACACAAAGTAGAATGGTGGCTAGGGGTAAGTAGAGGTTGAGGGGAAGTAGGAATGACGAGTTATTGTTTAATGGACATAGTTTCAGCTTTGCAAGATGAAAACAGTCCTGGAGATGGCTGCATAACAATATGAATTTAATTAATGCCACAGAACTGTACACTTACAAATGGGTTAAAATGGCAAATCTTTTGCAACTTTAACTATAATTCAAAAAAACTAAAAAAATTTTATAAATGTAATATTATTGATATCAATTCCCAATTTTAAGGGAGGGAAATTGTTTTAGTAATTCCAATTCTGCTACTGACCTTATCTTAAACAAAAGTAATGTAAGACTGTTCATTCAGTCTAATAGATGAGGGATCACTGATTCTTAAATTTATATATTTAAGAGAGTAGAATCATTTTCCTAATAAAATTCTATATGGAACTCGATATATTAAGAATATAAAAGTAGAACTGCTCTGTTTAAAGTAGCAGAGAATAAGAGAAGGTGAGGTCAAGGTGTGGGAAGAGGCCAGGGCTGTTGCCTGTTCAGCTTCCCTTTAAAAACCTCAGCTAACCTTTAAGGATCCCCTTCCCTCAACTTCTATTTATTGGTCTATGATTCCAGACACAACTGGATCGAGTTAAACCATCTGATGGACTTACAGTACTATCACATATAGTAGTAAGGTACTTCATCAGCTTCTGAGTTTCAACTGAGGTTTAATGGACCTATCACAGTGACTTGACAAAATAGTTATCTTTCTTTTAAAAATAGCAGCACTAACAACTTCCTTAAGGAGTCGATTTAAATAATTTAGAGTCTATCAGACATTTTGTTACCTTGTTAAGTTTAGATGCTAGGGGATCTGCTGCCTCTTTCCTCTGTGTGTTACCCATTGCTGCCAGTAAACTCAGCTGAAACTGATCTTCCTTGCAGTTCATTTCATTCTTAGCAGTTAGTTGCATGAAGGAAATGGGGTCATCAGGCTGTACTGTCACATTCCTCTTTTCAGATTCTTTCTGTGTTGAGAATATAACAAAGTCTCTCTTTAATATGAAAAGATAGTTTTTTAGAGGCTTTTGACAGAGACAGCCCTCACATATGAAAACTGAAAAATCAACAAAACAACAAGAAAACCCACAAAGCACTTTTCTTTTCTTTTTTTTCTTCCTGAGACAGGCTGTTACTCTGTTGCCCAGGCGGAGTGCAGTGGTATGATCACAGCTCACTGCAGCCTCGAACTCTTAGATTCAAACGATCCTTCATCCTCAGCCTTCCAAGTAGCTGGAATGACAGGCACATACCACCATGCCTGGCTAATTTTCTCATTTTTTTTGTTGAGACAGGGGCTTGCTATGTAGCCCACACTGGTCTCAAACACCTGGCCCCAAGGAGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACGAAGAGACACAAAACACTTTTGTTGCCTCATCATATATACCTTACCTTTTGGGATAATTTCTCTTCTTCTAGTTTAGCAGATAACATGTGAGAAAGGGACTGTCTGCATTCCTTATTGAAAATGTCATTCATTAAAGGTGAACATTCAGACAAGACCTTGAGGCACAGGGAAATTCGATCCACATCATCATCAGTAATTGGCTTCTTAGGAAGAGAGGATTTTCCCAAATGCAGGATAGTAGCCATGAGCAACATAGCCTCAGCAACAAAAGACTAAGAAAGTAAAGAAATCGGTTACTGATATTGTCTTGATTCTCAGATTGCAATCATGTCACTTCATTATAACTCACAATCTAAATTTTCACTTCACCTGAATAAGATTTCAAATTCTTTGGATTTTATGTCCATATCTGTTTTTGCATTCTTCTCCTTCCTTTCTACTCTTAACTGCCACTCTCTAAGACCTGCATTAATCCTCAATTAGAGACAGCAGAGGCTTTTTAACTGTTTTCCCTTGCTCCAGTCCTTCTCTGTAACCACTTCATATGCTGATGCTGTCCTTTTTAATCCCAACTACAGAAAAGTTAAAAGAATGATATACTTTACCAATTGTTAACATTTTGCCACATTTGCTTACCTATTCTGTATATGTACACTTATTTTTTTTGGCTGACATGTGAAAAAGTCTTCACCTCATAAATGCTTCAGCATTCATCTCCTAAGAGTCAGAACAGTTTCCTACAAACCACAATTTCATTTTCTCATCTGAAAAATTCAACAATTCCAAAATACAGCTTCTATACTCTGAATTCAAATAAATCTCCCTAAATTGTCTTAAAATGTTTTTGTTTTATTTTTTAAATCCAGGATCAGCTTCATGCATTTTATCCCTCTTAATCTAGACCAGTTCTCTGCCGTTTTGTTTTTAATCGCACTAACTTTTTTAAAGAACTGAGGCCAGTTGTTTTATAGAATATCCCACACTTTTGATTAGAATACCAGATAGGTGATGTTTTGTATTTCACCCTGTACTGCATCACAAGGTACCTAAAGTTAGGCTGTCCAATTATTGTGCTGCTAAGCGTGATCACCTGATGCTGCTATCTTAATCTTTATACTGCACCAATCATTTCATTCCCTATGTAAATACCTTTAATGAATGTCAGCCTTCATACTGAAGTCCGTATTACTTAGCTCGCTATTCAAAGTCTTCCACAAGTGATTGCAACTTACTTTTTTAGTCTCATGTAGCATTATCCTGACACATATGCTCTAAGCCCTTGCCAAATTGCCTTTGGCTGAGTACTGATCTGCACACATGCATGAAAAACTACTGGAGGCCTGGGAAAAACCAGCAGAAGAGTAAGTATATGTCCCCCAAGTTTGGATACTGTCTCCAAAAGGAGAGGAAAGAGAGGAGGGGACAGAAAAAAAAATCCGAGGAAATGACTGAAAATTTCCCAAACTGATGGAGATATAAA
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TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAAAAAGCTAATATTGTCACCAAAAGCATAGGCAATAAAAGAAAAAATAGATTAAACATCAAAATTAAACACTTTTATGCATCAAATATTATCAACAGAATGAAAAGGCAACTCACAGAATGGAAGAAAATATTTGCAAATCATGTATCTGATAAGGGGGTTAGTATCCAGAATATTAATAACTCCTAAAATTCAAACAAAAAAAACCAACAACCCAATTTAAAAATAGGCACAGGACTTGAACAAACATTTCTCCAAAGAAAATATACAAATGGCCAATAAGCACGTGAAAAGACACTCATCATCACTAATCATTAGGAAAATGCAAATCAAAACCACAATGAGATACCACTTCACATACCCATTAAGATGGCTATCATCAAAAAAAAACAAAACAAGTGTTGGCAAGGATATGGAGAAATTGGAACTCTTGTGCACTGCTGGTAAGAATGTAAAATAGTGTAGCTACCATGAAAAACACAATGGAGGTTCCTCAAAAAATTAAAAGTACAATTATCATATGATCCAGCAATTCTGCTTCTAGATATATACCCAAAAGAACTAAAAGCAGGGACTTGAACAGATATTTGTACATCTGTGTTAACAGCAGCATTCTTCACAGTAACCAAAAGGCAGAAGCAATGCACATATCCAGGGATGGATATATGGATAAACAAAATGTGGCATATACTTACAATGTAATATTATTCAGCCTTAATAAGGCAGGAAATTCTGATACATGCTATGACATGAATGAATCTTGAAGACATTATACTGAGTGAAATATGCCAGTCACAAAAGGAAAAATACTGTATTGTTCCACTTCTGTGAGGTACTTAAAATAGTCAAAATCACAGAGACACAAAGTAGAATGGTGGCTAGGGGTAAGTAGAGGTTGAGGGGAAGTAGGAATGACGAGTTATTGTTTAATGGACATAGTTTCAGCTTTGCAAGATGAAAACAGTCCTGGAGATGGCTGCATAACAATATGAATTTAATTAATGCCACAGAACTGTACACTTACAAATGGGTTAAAATGGCAAATCTTTTGCAACTTTAACTATAATTCAAAAAAACTAAAAAAATTTTATAAATGTAATATTATTGATATCAATTCCCAATTTTAAGGGAGGGAAATTGTTTTAGTAATTCCAATTCTGCTACTGACCTTATCTTAAACAAAAGTAATGTAAGACTGTTCATTCAGTCTAATAGATGAGGGATCACTGATTCTTAAATTTATATATTTAAGAGAGTAGAATCATTTTCCTAATAAAATTCTATATGGAACTCGATATATTAAGAATATAAAAGTAGAACTGCTCTGTTTAAAGTAGCAGAGAATAAGAGAAGGTGAGGTCAAGGTGTGGGAAGAGGCCAGGGCTGTTGCCTGTTCAGCTTCCCTTTAAAAACCTCAGCTAACCTTTAAGGATCCCCTTCCCTCAACTTCTATTTATTGGTCTATGATTCCAGACACAACTGGATCGAGTTAAACCATCTGATGGACTTACAGTACTATCACATATAGTAGTAAGGTACTTCATCAGCTTCTGAGTTTCAACTGAGGTTTAATGGACCTATCACAGTGACTTGACAAAATAGTTATCTTTCTTTTAAAAATAGCAGCACTAACAACTTCCTTAAGGAGTCGATTTAAATAATTTAGAGTCTATCAGACATTTTGTTACCTTGTTAAGTTTAGATGCTAGGGGATCTGCTGCCTCTTTCCTCCGTGTGTTACCCATTGCTGCCAGTAAACTCAGCTGAAACTGATCTTCCTTGCAGTTCATTTCATTCTTAGCAGTTAGTTGCATGAAGGAAATGGGGTCATCAGGCTGTACTGTCACATTCCTCTTTTCAGATTCTTTCTGTGTTGAGAATATAACAAAGTCTCTCTTTAATATGAAAAGATAGTTTTTTAGAGGCTTTTGACAGAGACAGCCCTCACATATGAAAACTGAAAAATCAACAAAACAACAAGAAAACCCACAAAGCACTTTTCTTTTCTTTTTTTTCTTCCTGAGACAGGCTGTTACTCTGTTGCCCAGGCGGAGTGCAGTGGTATGATCACAGCTCACTGCAGCCTCGAACTCTTAGATTCAAACGATCCTTCATCCTCAGCCTTCCAAGTAGCTGGAATGACAGGCACATACCACCATGCCTGGCTAATTTTCTCATTTTTTTTGTTGAGACAGGGGCTTGCTATGTAGCCCACACTGGTCTCAAACACCTGGCCCCAAGGAGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACGAAGAGACACAAAACACTTTTGTTGCCTCATCATATATACCTTACCTTTTGGGATAATTTCTCTTCTTCTAGTTTAGCAGATAACATGTGAGAAAGGGACTGTCTGCATTCCTTATTGAAAATGTCATTCATTAAAGGTGAACATTCAGACAAGACCTTGAGGCACAGGGAAATTCGATCCACATCATCATCAGTAATTGGCTTCTTAGGAAGAGAGGATTTTCCCAAATGCAGGATAGTAGCCATGAGCAACATAGCCTCAGCAACAAAAGACTAAGAAAGTAAAGAAATCGGTTACTGATATTGTCTTGATTCTCAGATTGCAATCATGTCACTTCATTATAACTCACAATCTAAATTTTCACTTCACCTGAATAAGATTTCAAATTCTTTGGATTTTATGTCCATATCTGTTTTTGCATTCTTCTCCTTCCTTTCTACTCTTAACTGCCACTCTCTAAGACCTGCATTAATCCTCAATTAGAGACAGCAGAGGCTTTTTAACTGTTTTCCCTTGCTCCAGTCCTTCTCTGTAACCACTTCATATGCTGATGCTGTCCTTTTTAATCCCAACTACAGAAAAGTTAAAAGAATGATATACTTTACCAATTGTTAACATTTTGCCACATTTGCTTACCTATTCTGTATATGTACACTTATTTTTTTTGGCTGACATGTGAAAAAGTCTTCACCTCATAAATGCTTCAGCATTCATCTCCTAAGAGTCAGAACAGTTTCCTACAAACCACAATTTCATTTTCTCATCTGAAAAATTCAACAATTCCAAAATACAGCTTCTATACTCTGAATTCAAATAAATCTCCCTAAATTGTCTTAAAATGTTTTTGTTTTATTTTTTAAATCCAGGATCAGCTTCATGCATTTTATCCCTCTTAATCTAGACCAGTTCTCTGCCGTTTTGTTTTTAATCGCACTAACTTTTTTAAAGAACTGAGGCCAGTTGTTTTATAGAATATCCCACACTTTTGATTAGAATACCAGATAGGTGATGTTTTGTATTTCACCCTGTACTGCATCACAAGGTACCTAAAGTTAGGCTGTCCAATTATTGTGCTGCTAAGCGTGATCACCTGATGCTGCTATCTTAATCTTTATACTGCACCAATCATTTCATTCCCTATGTAAATACCTTTAATGAATGTCAGCCTTCATACTGAAGTCCGTATTACTTAGCTCGCTATTCAAAGTCTTCCACAAGTGATTGCAACTTACTTTTTTAGTCTCATGTAGCATTATCCTGACACATATGCTCTAAGCCCTTGCCAAATTGCCTTTGGCTGAGTACTGATCTGCACACATGCATGAAAAACTACTGGAGGCCTGGGAAAAACCAGCAGAAGAGTAAGTATATGTCCCCCAAGTTTGGATACTGTCTCCAAAAGGAGAGGAAAGAGAGGAGGGGACAGAAAAAAAAATCCGAGGAAATGACTGAAAATTTCCCAAACTGATGGAGATATAAA
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Task1_train_15340
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Given this variant in gene CYP2R1, PDE3B (cytochrome P450 family 2 subfamily R member 1| phosphodiesterase 3B) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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TATCCAGAGTCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAACCCCATCAACAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCACCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAATTAGGAATACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCTGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAAGGTCCAAAAATGATAGACTGGATGAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATAATGAGTTCATGTCCTTTGTTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCATACCAGCATGGCACATGTATACATATGTAACTAACCTGCAAATTGTGCACCTGTACCCTAAAACTTAAAGTATAATAATAATTTAAAAAAATAAAAATTAAAAAAAGAAATAAAAAAACACATAATTTTCTACCTGGTTTTTAAAAATCTTAAGTTGAATGCTTTATGATAAAAACAGTCTAAACAATAAATTTACAGCTTTGAAAAATATATACTTTTCTCAAATATTACTGTGATTGCATCATCTTTCATTTTCATCATCTTTTTAAAGGTCTATTATAATTGTGGCTGCTTCTTTGGTCTAATTGTTTGTTTTTTATTTATATTACTGCTTTCAAGTATCATTATACTCTGGCCTGAGAATTCAGTCTTTTACAATTTGTGCTTTCTCTGCATTAGTTCATTTCCTTTGTGATGTAATATAGGATTTTAATTTTTGCCTTTTCAACCAATGTCTTTAGTTTTTGCCTATGTAAGCAAGATATTGTTAAATTTTTATTTGAAATTAAATGTGAAACTCAGAGAATTTAGGACACAACTTTAGTAAAAATTCTTATACTATTAACTATTAAAACCACTGTATGTGATCTGAACATTCTATTTTAGGCTGTCTGTTGCTGCTTTCTTCTTACCGATTTTGTCAACTTTCAGTCTTTCCCCCTTGTTGAATATGGAATCCCCAACACTGATCAATACTAAACCATACAGAATGCTAGTCCTTTACACAAACCATGCAACTCTATACTTACTAATCACAGTGATTAGTAGTCAAAAAAGCTGCTTCAAGTTCTGTAAGCTTATAAGTAAAATGATAGTAAAAATGTCACCAAGTACTCAAGACTAGGTTCAAAAGGGCACTTCGGATTCAAGTGGAAGTATGTGTTTATTCCTAACTTGTTTCACAAAACCTGCAGATGTTATTAGGTGTTGATTCTTTAAAACATTATTTATAATACTTATTAGAGCTGGACCACAATAGAATTAGCAATGTACTGGTCTAAAATATGCGTGTAGTACAGCCTGAAAGGTCCTCAAATACTAGGTTCTGTAAATAAATAGTTTCTTATTAATCAGTATAAAATAATCCCAACTGTATGCACTAAAACTTAAAATAAGGAATGTGATTTAAAATATCTTAGTAAATCACTAAATAGGTGCAAATAAACATACCTCCCATTTTTGTCATCTTCATGAATAAAGGAAGGCATGGTCTGTCTGCAAAAATTTCGCTTTGATGAACAAGGCATTCCTTTACTACATCATAGCCATTTAGAACCACAGTTGATATGCCTCCAAGATCTAAACTGAAGATCTTTGAGAAGAGAAGAAAAACAACATTTAAATGACAGCATGTATGGAGAAATATAACCATGGAAATCTACAAGTGGTAAGTGCGGCTCTTCCAGGATTTGTTACGTCCCTGAAAATATAGGCAGTTATTACTCAACTGACAATGTTCAGAGTGCCCTCCTTCTATAAGGCATGCAAAACTGTGTGATTTCATTATGCCATTCAGTGCCTAAAGTCACAGTCTTACCAACAGTATAATGAAAAGGGTACTGGACTCGGGAGGCCTGGGTCTAGTTTAAGGTTTGCCATTAAACAGATAAAAGACTCTGAGCAGAACACTTAACCTATCTGGGCTTCAGTATTGCCATAGAAAATATATTTGATATATATGCTCTTTTATGATTCATTTTACCTCAAAATGTTCAATGATATCTAGGAATCTCCTTCTATTTCCAAGATGAATGAGGCTAGTGAGGGAGAGGATTGTCAAATACCTGAGAGACAACTTTGAAGTATAAACATATTGTAACTAAGCCCATTTGTATTTGGCTCTCTGTATTCCACAAAGTGAATGAAGAGGGCTCTAAGGGAACCTAACCTTGGAGGAAAGGCATTTACCACATAGGTTAGGTGGCTGCCTCTCAGTTAAGGGGAAGGCAAAACAGGATCCATTCCATGCCTTGCTGGAGTTGTCTGCCCTGTGCCTCACCCCAGGTTCACTTACAATGTCACACCTCCTGTAGTCTATTCTAGTTAACCCAATATAAGAGGCCAGTCAGTGAGAGAACGATATTCCCTTATCAGTGGAATGTAAAGATTGCTTATTGCCATCCTTTCAGGATAGCATTTTACAGCCAAAATACTGAGACAAGCCTTATCCCTGTGCAAACAAGTCAAGGAGATTTAGCCATGGTACACACTACTTCAGAAGAAAACAGGAGGCTTAGCAGAGAACAAAAGTTCAGCAGAAAGTTATATCAGCAAAGGTCATGAGGACTGCCAAGTGGTAACAACTAACCAGCTGAGTAATGGGGCCACCAGAGTCTTTGGCACACGGGTGGGCTCTGCCAAGTGAGCACTAGGTATATCCAGAACCTTGGGAAAAGAACATGGACTGCCTGCCATAAGCAGTGGTATTAGTCAAAAGTGACAGTAGAAGAGTTCTAAGTAAAAGGGAATGGCTACCAGCCGAGCAAAGTGGGGACAATGCAGTAATGTAGTCCTATTAAAGGAAAGTCTCTTCGCAGAAGGGAACTTTAGCAGAGACAATAAAAAGATGCCATTCCACAAGGATAGTAAAAGAGCCATGAACTTAAAGTTGTGTCACTATGAAGGCAGAACAGAGGGCAAATGTATTTCAGGATAGAGCTTCAGGGTAGAGCTTCAAATTGTGGACACCAGGGATCATAAAAAGCAAGGAGGAGCCATGGCTTGAGAAAGTTGTTACACAATCCACCTTTACTCAAGAATCTGAAATAGTCCTCTATTTGAGGGTAGAACTGGAGAAATTTTTACTTGAACTAGTATGTATTCCTGTATACAGTTTTCAAGGACTTTTGGTAAAGGTGTGTGACTCAAATTGTGAAAACTTATCCTTAAACTGCTTTGATCTATGGAAGGGTACAAGATTAGCTTATATATTCTTTGATTTATTCAATAATTTTAGTGCCAATTATGGGCTAATTATAATGCTGGCAGAGATGTAAACAGGAATACACAAAACATTTTCCTTGCCTTCTAGATCACTCCATGATCTTCAAGTCTCTTTCCCTCACCCAAACCAGCCCTACTCATAATTTTTCACTCTCCCAGTTAATGACCACTCCATACATCCTTCAAGTGGTTGAGGCCCAGGACTTTGCAGTCACCCACACTGACTCATTATCTTCTTCCAAACTCCACATCCAACTGCTCAGCAGTTATGCTGTTTCTACCTTCAGAATATAAACAGAATCAGACAATTTATTATAACCTGCAGGTGACCGGTCTAAGTCACCTGCA
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TATCCAGAGTCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAACCCCATCAACAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCACCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAATTAGGAATACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCTGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAAGGTCCAAAAATGATAGACTGGATGAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATAATGAGTTCATGTCCTTTGTTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCATACCAGCATGGCACATGTATACATATGTAACTAACCTGCAAATTGTGCACCTGTACCCTAAAACTTAAAGTATAATAATAATTTAAAAAAATAAAAATTAAAAAAAGAAATAAAAAAACACATAATTTTCTACCTGGTTTTTAAAAATCTTAAGTTGAATGCTTTATGATAAAAACAGTCTAAACAATAAATTTACAGCTTTGAAAAATATATACTTTTCTCAAATATTACTGTGATTGCATCATCTTTCATTTTCATCATCTTTTTAAAGGTCTATTATAATTGTGGCTGCTTCTTTGGTCTAATTGTTTGTTTTTTATTTATATTACTGCTTTCAAGTATCATTATACTCTGGCCTGAGAATTCAGTCTTTTACAATTTGTGCTTTCTCTGCATTAGTTCATTTCCTTTGTGATGTAATATAGGATTTTAATTTTTGCCTTTTCAACCAATGTCTTTAGTTTTTGCCTATGTAAGCAAGATATTGTTAAATTTTTATTTGAAATTAAATGTGAAACTCAGAGAATTTAGGACACAACTTTAGTAAAAATTCTTATACTATTAACTATTAAAACCACTGTATGTGATCTGAACATTCTATTTTAGGCTGTCTGTTGCTGCTTTCTTCTTACCGATTTTGTCAACTTTCAGTCTTTCCCCCTTGTTGAATATGGAATCCCCAACACTGATCAATACTAAACCATACAGAATGCTAGTCCTTTACACAAACCATGCAACTCTATACTTACTAATCACAGTGATTAGTAGTCAAAAAAGCTGCTTCAAGTTCTGTAAGCTTATAAGTAAAATGATAGTAAAAATGTCACCAAGTACTCAAGACTAGGTTCAAAAGGGCACTTCGGATTCAAGTGGAAGTATGTGTTTATTCCTAACTTGTTTCACAAAACCTGCAGATGTTATTAGGTGTTGATTCTTTAAAACATTATTTATAATACTTATTAGAGCTGGACCACAATAGAATTAGCAATGTACTGGTCTAAAATATGCGTGTAGTACAGCCTGAAAGGTCCTCAAATACTAGGTTCTGTAAATAAATAGTTTCTTATTAATCAGTATAAAATAATCCCAACTGTATGCACTAAAACTTAAAATAAGGAATGTGATTTAAAATATCTTAGTAAATCACTAAATAGGTGCAAATAAACATACCTCCCATTTTTGTCATCTTCATGAATAAAGGAAGGCATGGTCTGTCTGCAAAAATTTCGCTTTGATGAACAAGTCATTCCTTTACTACATCATAGCCATTTAGAACCACAGTTGATATGCCTCCAAGATCTAAACTGAAGATCTTTGAGAAGAGAAGAAAAACAACATTTAAATGACAGCATGTATGGAGAAATATAACCATGGAAATCTACAAGTGGTAAGTGCGGCTCTTCCAGGATTTGTTACGTCCCTGAAAATATAGGCAGTTATTACTCAACTGACAATGTTCAGAGTGCCCTCCTTCTATAAGGCATGCAAAACTGTGTGATTTCATTATGCCATTCAGTGCCTAAAGTCACAGTCTTACCAACAGTATAATGAAAAGGGTACTGGACTCGGGAGGCCTGGGTCTAGTTTAAGGTTTGCCATTAAACAGATAAAAGACTCTGAGCAGAACACTTAACCTATCTGGGCTTCAGTATTGCCATAGAAAATATATTTGATATATATGCTCTTTTATGATTCATTTTACCTCAAAATGTTCAATGATATCTAGGAATCTCCTTCTATTTCCAAGATGAATGAGGCTAGTGAGGGAGAGGATTGTCAAATACCTGAGAGACAACTTTGAAGTATAAACATATTGTAACTAAGCCCATTTGTATTTGGCTCTCTGTATTCCACAAAGTGAATGAAGAGGGCTCTAAGGGAACCTAACCTTGGAGGAAAGGCATTTACCACATAGGTTAGGTGGCTGCCTCTCAGTTAAGGGGAAGGCAAAACAGGATCCATTCCATGCCTTGCTGGAGTTGTCTGCCCTGTGCCTCACCCCAGGTTCACTTACAATGTCACACCTCCTGTAGTCTATTCTAGTTAACCCAATATAAGAGGCCAGTCAGTGAGAGAACGATATTCCCTTATCAGTGGAATGTAAAGATTGCTTATTGCCATCCTTTCAGGATAGCATTTTACAGCCAAAATACTGAGACAAGCCTTATCCCTGTGCAAACAAGTCAAGGAGATTTAGCCATGGTACACACTACTTCAGAAGAAAACAGGAGGCTTAGCAGAGAACAAAAGTTCAGCAGAAAGTTATATCAGCAAAGGTCATGAGGACTGCCAAGTGGTAACAACTAACCAGCTGAGTAATGGGGCCACCAGAGTCTTTGGCACACGGGTGGGCTCTGCCAAGTGAGCACTAGGTATATCCAGAACCTTGGGAAAAGAACATGGACTGCCTGCCATAAGCAGTGGTATTAGTCAAAAGTGACAGTAGAAGAGTTCTAAGTAAAAGGGAATGGCTACCAGCCGAGCAAAGTGGGGACAATGCAGTAATGTAGTCCTATTAAAGGAAAGTCTCTTCGCAGAAGGGAACTTTAGCAGAGACAATAAAAAGATGCCATTCCACAAGGATAGTAAAAGAGCCATGAACTTAAAGTTGTGTCACTATGAAGGCAGAACAGAGGGCAAATGTATTTCAGGATAGAGCTTCAGGGTAGAGCTTCAAATTGTGGACACCAGGGATCATAAAAAGCAAGGAGGAGCCATGGCTTGAGAAAGTTGTTACACAATCCACCTTTACTCAAGAATCTGAAATAGTCCTCTATTTGAGGGTAGAACTGGAGAAATTTTTACTTGAACTAGTATGTATTCCTGTATACAGTTTTCAAGGACTTTTGGTAAAGGTGTGTGACTCAAATTGTGAAAACTTATCCTTAAACTGCTTTGATCTATGGAAGGGTACAAGATTAGCTTATATATTCTTTGATTTATTCAATAATTTTAGTGCCAATTATGGGCTAATTATAATGCTGGCAGAGATGTAAACAGGAATACACAAAACATTTTCCTTGCCTTCTAGATCACTCCATGATCTTCAAGTCTCTTTCCCTCACCCAAACCAGCCCTACTCATAATTTTTCACTCTCCCAGTTAATGACCACTCCATACATCCTTCAAGTGGTTGAGGCCCAGGACTTTGCAGTCACCCACACTGACTCATTATCTTCTTCCAAACTCCACATCCAACTGCTCAGCAGTTATGCTGTTTCTACCTTCAGAATATAAACAGAATCAGACAATTTATTATAACCTGCAGGTGACCGGTCTAAGTCACCTGCA
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Task1_train_15341
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A variant affecting Chromosome 11, within the gene SOX6 (SRY-box transcription factor 6), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Tolchin-Le Caignec syndrome
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CTGGCGGAACAGCCCCACTATGTATCACTACATACACAGGGAACATGACTGAGGGAGGGCAGGAATCACAAGAGGTCCCAAACTTAAACTTTGGATTGTTCAAAAGAGATTATACACAATCTTAGAGGTGTACTAACGGGATTAAAAGAGAATGTTTATCACATAATCTTAAAGTGGACTATGAATTAGTATTTTTCATAAATCCTCTAATTATCAGCTGAATAGCCCAATTATACCACATTGCCCTTTTTAGCGTTAAACGCATTACCTTTAAAAATGCAAACATTTATAATACAGAGGAATTTGATAATCCTATTTTGTCATGTCTTCATTTATTAACATACTGGGATCTTTTATAATAAAGTGGCTTAAGCTTCTCTCTACCTCTAAAAGGTTCTGCCATGGTATAAAGAAATTCACTGATCATCTGGTGTGATATAAAATATGGTTTTCTGTGATAGGAAATACATATTAAATAGTAATGATAATGCTAGAGTTCACCTTTATTGATATCGTATTAAGCACTATATAAAGTACTTTTAAAAGCGTTGCCTCATTGGATCTTCTCAACAATCATACAAGATAGTTTCCACTATTCATTTCATTTTACACATGAGAAAACAAAAGTTAGAGAAGTTTAATAACTTGCCCAGGTAGGTGGCACAGTCAGTATGTGAACCCCAGAAGTCAAACTCCAAAGCCCACGCTCCTCCCGAAAACACTGCAGTGTATTGCACAGATTCATGACCCAGACTACGTTCATTGGCTTTGTTTTCTTACTCTATTTACTATTCCTTTTAAACACATGCTCTGAAAACAACTTTTTGTTCCACAGGGTTACCTCTTGAGTGCCCTTAAAAGTGAATAGCTCTTGGCTTCTCCTTTAAGGTACCTCTTTTTCTACCTTCAAGTGAAGCTCTCTTAGTTTCCTGGCACAGCACAGCTCCTCAATTCTCCTCCAACTTCACAGCAAATGCAACTTCCCTCTTGCTTACTCTGCTTCTCTCTCTCAAGCTCTTTCCCAAGTGTTTCCCTACTCTGAGTCCAGCTGCTTCAGGTCTGTGCCTCAAATGGCCCTCTGGATTTGCCACCCTGCTGTGCTTCTAGGTCTGGGTATGCTGGAATCTACAGTCATCTGCATCCCCACTTATCCTGACTACTGTGGTTATGAGGGGCCTCTTTTGAATGCAGACAGCCAGTCAGCCAAGTTGAAATTTATACCAGAAATCTATTACCTAATTTTTAAACAAAATGACATGAAATCAGACTTGAAGATATCAAAAGCATGTCTAGTTTCTGATTTAAGCAAGAAAATACACATTGTTACTGCTCCCACCACAGAATAATTTACTGCAACAGGAGTTCTGGATCTTATGCCAAAAATGAGGTCCTCTAACCAATGTCGAGGCCAATTATCTTGTGGTAGATCCCACAACAAAAGCAGACTATTGTGATTAGAGTCAGAAGCACCACCCAGAGAAGCTGGAAAGCTTATGGGGATTTCTTAAGGTTAGTTTTTATTTTTCCTCCCTGTGTATCTGCTTAAATAAACTACCAGAAACTCTGTGTGTGGCCACTGAGCATCTTAAATTGGCTTGGGAGACAATGACAGGGGTGATCAGCTGGGAGTGAACTGTTCCAGGTTTGGCTTGATTTGAGCAAAAGCCATGGTGCAAGGCAGTGCCCCTATGACACAGCAAAGATTCTCATGGCCAAGCCCCTTCAGTATGCCACAACCTCCTCTTTCCCTAATCTCCTTCCCAAACATACTGCCAGTAGCCATCCTATAGTTACTTACCGCAAAAGTAAAGCCCAGGTGGCTAAATTCAGGAATACTTACCCCACAGTAAAGAACTGCCTCATCTCCTGTCTCCGAGACCTCATCAGTTGCTTATACTCCCCAATCCGAAGCTTTTTGCCATCAACAATGCAGGTGCGTTTCGGTCGGGGTTTGTATTTATAGTTTGGGTACTTCTCTAAGTGGATCTTGCTTAGCCGGGCCTGCTCTTCATAATAAGGTTGCTTCTCCTGGTTGGACATTGATTTCCAGCGAGATCCTAGAAATAAAAATAGCCTTAAGTACCCAAGTGGTCAAGGCAACATATTCTAGGCAAACACAACTAGATATACCTTCCCATCACTTCACTCATCTGTGCGCTGGGTGGCTCCAATTCCCACATACCACTGGCTGTCCCAACTATACTTTTAGTCTATAACACAAAGAACAATTTTGCGTATGATACTTTCTTGTGTTATTTATCTCAATAGTTTAAGACTGATGCTACTATAGTATTTTAAAATATATCTTTGCTGCTTAAAGATCATTGCCTACACCAAGGTCTTTCCCCATCCACCTGCCTACCCTCTCAACAGGGATAAAAGGCTAAACCTCCTAAGCATACTTTTGAGCATGACAGGATTCTCAGGAAAAGCTTTGTTTGTCCTAGAAATTCAAACATCTCCCAAACTCCAAGTATCTTTAGTGAAACTATCCTTTGACAAGATGTCAGCAGATGTTGAAATCATTCCATATATAAAAAACTACTGTGCACAAGTCTGCCATGGCCTAGGTAATTAAAAAACCTAAGCTCTACCTAAGAAGTTATAGCTTTAGAACCGGAAGATACCATTGGAATTATATATACCATTTTCAAGTACTATAAACGCTCATTCAAAGCTGTACCAATAAAAGTACAAAAATTTTAATACGGTTTATACAGGAAGAAGGATAAGTATTCACTTCTCTAATATTGTTTATAAAGAATTATCTAAACACTTGATGAAGAGGGGATGTGTTTTTTTACATGTATCAAATTGCATTTTTGTGTCTCGCTGGTGAATAAAGCGGTAACAGCTGTGCAGACTGGATGTTAGCGATTCTTCAGTGGAGATTTTTCATACATAAACAAATGGAAAAGTTGTACAAATATTCTCTGCAGCCAGCAATATCCTAGTCTGCTTTAATAGCACATGCATCCCTGCTCTTTCCTGATTGTTGTTCAAAAGTTGTGTAGAAGGCCTAAGCAGATAGGCTTCTCTGTGTTCTGCTGGTTTCCAGCAGCTTAAAGCCCCAATTAACGAAGAATTCTTGGTGCTCTTGAAACGCTTGCACTTAAAACTTTACATTTTAATGAATATACTTACTATATTCCTAATAATTTTTTCACAGAATGCACACAAATAATATAGATTCCCCACAGCTGCCAAAATGGAAACAGAGAGGCTCTGTGCCCATCTGAAGGCTTACTCATATTGCTACTAAAAGGGCAGAAAAATATGAAAATCTTCAAGTTAGATATAAAACTGTAAGGCCAGAGAAGCACTGATTTTTTTTTTTTTTAGAATGTCATTTAACTAGAAAAAAAAAAATGTATGTCCACTAGGAACATTTTGGTTTGAAAGATATTTAAATTCAAAATAACATCCCTATGCATAACTCTGAAGCTCTAAAAATAAAAACCACACTTAATTGTAATGACATTTAGTATCCATTTTGAAATTAGAAAATCAAAAAAAAAAGAAAAACATATTTAACATTTCACCACTATTTGATCTTATGTATGTTTTAAATTTTTCTTAGAGGTCACTGCCTCAAAATGCCTCAGAATCAAGTTAAATTATTTATACAGTGACAAAACATGTGTATCTGTGCATGTCCAGATCACTGATATTTACTCAGGTTAAATATTTATTACTTTTGAACAAAACATTTAAAAAATTAAAACCACAGTTTAAGTCTCTAATGTTTTTCAGCTTCTTAAATGGCTTCCTTTGAGATTTTGTCACATCGTGACAGCTTTAAGTAGAGCAGTGCCTTCTGTGTTTTTCCTTTTTAAAGAGGAAACATGTTGACTGTAATGCTGCATGTTGAATAAAATATGTTTAACATGTTGAGCACAATAATTCCAAGCTGTACAATCCACACTAGGCAAGCTCTACACTAATAGAACAAGGCTTGAGTTTAATCCTGAGAAATAGAGAATCACTCTGGCAATTTACCACAAACTGGGCCTCTCCCCTGCAGCTCGTGTGTTCAGCTCACTGCTATGAAATTTGAACTAGTCATATCTTATTAAAATAATTGTAGATTTATTTT
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CTGGCGGAACAGCCCCACTATGTATCACTACATACACAGGGAACATGACTGAGGGAGGGCAGGAATCACAAGAGGTCCCAAACTTAAACTTTGGATTGTTCAAAAGAGATTATACACAATCTTAGAGGTGTACTAACGGGATTAAAAGAGAATGTTTATCACATAATCTTAAAGTGGACTATGAATTAGTATTTTTCATAAATCCTCTAATTATCAGCTGAATAGCCCAATTATACCACATTGCCCTTTTTAGCGTTAAACGCATTACCTTTAAAAATGCAAACATTTATAATACAGAGGAATTTGATAATCCTATTTTGTCATGTCTTCATTTATTAACATACTGGGATCTTTTATAATAAAGTGGCTTAAGCTTCTCTCTACCTCTAAAAGGTTCTGCCATGGTATAAAGAAATTCACTGATCATCTGGTGTGATATAAAATATGGTTTTCTGTGATAGGAAATACATATTAAATAGTAATGATAATGCTAGAGTTCACCTTTATTGATATCGTATTAAGCACTATATAAAGTACTTTTAAAAGCGTTGCCTCATTGGATCTTCTCAACAATCATACAAGATAGTTTCCACTATTCATTTCATTTTACACATGAGAAAACAAAAGTTAGAGAAGTTTAATAACTTGCCCAGGTAGGTGGCACAGTCAGTATGTGAACCCCAGAAGTCAAACTCCAAAGCCCACGCTCCTCCCGAAAACACTGCAGTGTATTGCACAGATTCATGACCCAGACTACGTTCATTGGCTTTGTTTTCTTACTCTATTTACTATTCCTTTTAAACACATGCTCTGAAAACAACTTTTTGTTCCACAGGGTTACCTCTTGAGTGCCCTTAAAAGTGAATAGCTCTTGGCTTCTCCTTTAAGGTACCTCTTTTTCTACCTTCAAGTGAAGCTCTCTTAGTTTCCTGGCACAGCACAGCTCCTCAATTCTCCTCCAACTTCACAGCAAATGCAACTTCCCTCTTGCTTACTCTGCTTCTCTCTCTCAAGCTCTTTCCCAAGTGTTTCCCTACTCTGAGTCCAGCTGCTTCAGGTCTGTGCCTCAAATGGCCCTCTGGATTTGCCACCCTGCTGTGCTTCTAGGTCTGGGTATGCTGGAATCTACAGTCATCTGCATCCCCACTTATCCTGACTACTGTGGTTATGAGGGGCCTCTTTTGAATGCAGACAGCCAGTCAGCCAAGTTGAAATTTATACCAGAAATCTATTACCTAATTTTTAAACAAAATGACATGAAATCAGACTTGAAGATATCAAAAGCATGTCTAGTTTCTGATTTAAGCAAGAAAATACACATTGTTACTGCTCCCACCACAGAATAATTTACTGCAACAGGAGTTCTGGATCTTATGCCAAAAATGAGGTCCTCTAACCAATGTCGAGGCCAATTATCTTGTGGTAGATCCCACAACAAAAGCAGACTATTGTGATTAGAGTCAGAAGCACCACCCAGAGAAGCTGGAAAGCTTATGGGGATTTCTTAAGGTTAGTTTTTATTTTTCCTCCCTGTGTATCTGCTTAAATAAACTACCAGAAACTCTGTGTGTGGCCACTGAGCATCTTAAATTGGCTTGGGAGACAATGACAGGGGTGATCAGCTGGGAGTGAACTGTTCCAGGTTTGGCTTGATTTGAGCAAAAGCCATGGTGCAAGGCAGTGCCCCTATGACACAGCAAAGATTCTCATGGCCAAGCCCCTTCAGTATGCCACAACCTCCTCTTTCCCTAATCTCCTTCCCAAACATACTGCCAGTAGCCATCCTATAGTTACTTACCGCAAAAGTAAAGCCCAGGTGGCTAAATTCAGGAATACTTACCCCACAGTAAAGAACTGCCTCATCTCCTGTCTCCGAGACCTCATCAGTTGCTTATACTCCCCAATCCGAAGCTTTTTGCCATCAACAATGCAGGTGCGTTTCGGTCGGGGTTTGTATTTATAGTTTGGGTACTTCTCTAAGTGGATCTTGCTTAGCCGGGCCTGCTCTTCATAATAAGGTTGCTTCTCCTGGTTGGACATTGATTTCCTGCGAGATCCTAGAAATAAAAATAGCCTTAAGTACCCAAGTGGTCAAGGCAACATATTCTAGGCAAACACAACTAGATATACCTTCCCATCACTTCACTCATCTGTGCGCTGGGTGGCTCCAATTCCCACATACCACTGGCTGTCCCAACTATACTTTTAGTCTATAACACAAAGAACAATTTTGCGTATGATACTTTCTTGTGTTATTTATCTCAATAGTTTAAGACTGATGCTACTATAGTATTTTAAAATATATCTTTGCTGCTTAAAGATCATTGCCTACACCAAGGTCTTTCCCCATCCACCTGCCTACCCTCTCAACAGGGATAAAAGGCTAAACCTCCTAAGCATACTTTTGAGCATGACAGGATTCTCAGGAAAAGCTTTGTTTGTCCTAGAAATTCAAACATCTCCCAAACTCCAAGTATCTTTAGTGAAACTATCCTTTGACAAGATGTCAGCAGATGTTGAAATCATTCCATATATAAAAAACTACTGTGCACAAGTCTGCCATGGCCTAGGTAATTAAAAAACCTAAGCTCTACCTAAGAAGTTATAGCTTTAGAACCGGAAGATACCATTGGAATTATATATACCATTTTCAAGTACTATAAACGCTCATTCAAAGCTGTACCAATAAAAGTACAAAAATTTTAATACGGTTTATACAGGAAGAAGGATAAGTATTCACTTCTCTAATATTGTTTATAAAGAATTATCTAAACACTTGATGAAGAGGGGATGTGTTTTTTTACATGTATCAAATTGCATTTTTGTGTCTCGCTGGTGAATAAAGCGGTAACAGCTGTGCAGACTGGATGTTAGCGATTCTTCAGTGGAGATTTTTCATACATAAACAAATGGAAAAGTTGTACAAATATTCTCTGCAGCCAGCAATATCCTAGTCTGCTTTAATAGCACATGCATCCCTGCTCTTTCCTGATTGTTGTTCAAAAGTTGTGTAGAAGGCCTAAGCAGATAGGCTTCTCTGTGTTCTGCTGGTTTCCAGCAGCTTAAAGCCCCAATTAACGAAGAATTCTTGGTGCTCTTGAAACGCTTGCACTTAAAACTTTACATTTTAATGAATATACTTACTATATTCCTAATAATTTTTTCACAGAATGCACACAAATAATATAGATTCCCCACAGCTGCCAAAATGGAAACAGAGAGGCTCTGTGCCCATCTGAAGGCTTACTCATATTGCTACTAAAAGGGCAGAAAAATATGAAAATCTTCAAGTTAGATATAAAACTGTAAGGCCAGAGAAGCACTGATTTTTTTTTTTTTTAGAATGTCATTTAACTAGAAAAAAAAAAATGTATGTCCACTAGGAACATTTTGGTTTGAAAGATATTTAAATTCAAAATAACATCCCTATGCATAACTCTGAAGCTCTAAAAATAAAAACCACACTTAATTGTAATGACATTTAGTATCCATTTTGAAATTAGAAAATCAAAAAAAAAAGAAAAACATATTTAACATTTCACCACTATTTGATCTTATGTATGTTTTAAATTTTTCTTAGAGGTCACTGCCTCAAAATGCCTCAGAATCAAGTTAAATTATTTATACAGTGACAAAACATGTGTATCTGTGCATGTCCAGATCACTGATATTTACTCAGGTTAAATATTTATTACTTTTGAACAAAACATTTAAAAAATTAAAACCACAGTTTAAGTCTCTAATGTTTTTCAGCTTCTTAAATGGCTTCCTTTGAGATTTTGTCACATCGTGACAGCTTTAAGTAGAGCAGTGCCTTCTGTGTTTTTCCTTTTTAAAGAGGAAACATGTTGACTGTAATGCTGCATGTTGAATAAAATATGTTTAACATGTTGAGCACAATAATTCCAAGCTGTACAATCCACACTAGGCAAGCTCTACACTAATAGAACAAGGCTTGAGTTTAATCCTGAGAAATAGAGAATCACTCTGGCAATTTACCACAAACTGGGCCTCTCCCCTGCAGCTCGTGTGTTCAGCTCACTGCTATGAAATTTGAACTAGTCATATCTTATTAAAATAATTGTAGATTTATTTT
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Task1_train_15342
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An alteration has been detected in SOX6 (SRY-box transcription factor 6) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Tolchin-Le Caignec syndrome
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CTGTACCAATAAAAGTACAAAAATTTTAATACGGTTTATACAGGAAGAAGGATAAGTATTCACTTCTCTAATATTGTTTATAAAGAATTATCTAAACACTTGATGAAGAGGGGATGTGTTTTTTTACATGTATCAAATTGCATTTTTGTGTCTCGCTGGTGAATAAAGCGGTAACAGCTGTGCAGACTGGATGTTAGCGATTCTTCAGTGGAGATTTTTCATACATAAACAAATGGAAAAGTTGTACAAATATTCTCTGCAGCCAGCAATATCCTAGTCTGCTTTAATAGCACATGCATCCCTGCTCTTTCCTGATTGTTGTTCAAAAGTTGTGTAGAAGGCCTAAGCAGATAGGCTTCTCTGTGTTCTGCTGGTTTCCAGCAGCTTAAAGCCCCAATTAACGAAGAATTCTTGGTGCTCTTGAAACGCTTGCACTTAAAACTTTACATTTTAATGAATATACTTACTATATTCCTAATAATTTTTTCACAGAATGCACACAAATAATATAGATTCCCCACAGCTGCCAAAATGGAAACAGAGAGGCTCTGTGCCCATCTGAAGGCTTACTCATATTGCTACTAAAAGGGCAGAAAAATATGAAAATCTTCAAGTTAGATATAAAACTGTAAGGCCAGAGAAGCACTGATTTTTTTTTTTTTTAGAATGTCATTTAACTAGAAAAAAAAAAATGTATGTCCACTAGGAACATTTTGGTTTGAAAGATATTTAAATTCAAAATAACATCCCTATGCATAACTCTGAAGCTCTAAAAATAAAAACCACACTTAATTGTAATGACATTTAGTATCCATTTTGAAATTAGAAAATCAAAAAAAAAAGAAAAACATATTTAACATTTCACCACTATTTGATCTTATGTATGTTTTAAATTTTTCTTAGAGGTCACTGCCTCAAAATGCCTCAGAATCAAGTTAAATTATTTATACAGTGACAAAACATGTGTATCTGTGCATGTCCAGATCACTGATATTTACTCAGGTTAAATATTTATTACTTTTGAACAAAACATTTAAAAAATTAAAACCACAGTTTAAGTCTCTAATGTTTTTCAGCTTCTTAAATGGCTTCCTTTGAGATTTTGTCACATCGTGACAGCTTTAAGTAGAGCAGTGCCTTCTGTGTTTTTCCTTTTTAAAGAGGAAACATGTTGACTGTAATGCTGCATGTTGAATAAAATATGTTTAACATGTTGAGCACAATAATTCCAAGCTGTACAATCCACACTAGGCAAGCTCTACACTAATAGAACAAGGCTTGAGTTTAATCCTGAGAAATAGAGAATCACTCTGGCAATTTACCACAAACTGGGCCTCTCCCCTGCAGCTCGTGTGTTCAGCTCACTGCTATGAAATTTGAACTAGTCATATCTTATTAAAATAATTGTAGATTTATTTTACAAGTTTTAAAGTGATCATCAGAGGCACTGTTTTGCACTCCATGAATTTCATACCATTTTGGGTTTCTAGTCCTTGATGAATTCTTTCAGTGGGACATATAAACCCAAGAACACTAAAGCAGAAAACTGTAGGGTCTATGAGTACTTCATAGCAACATATGAATTTAAGAGAACTGCACAGTAAAAGGAGATAAAGCTTGTCTCCACGATTCTTGTTTAGCAGTGACCTCTCAAGAGTTGCTAAATTCACAGTATTAACACATACTATAAATAGTTTTGTCTCTGAAATAAGTGTTCAGACAGTCCTGCCCTGGCACCTGGTGGATATAATAACTCCCAAACCTACATGCCACATTATGGGGTGGGGGAGGCAGACGTGATGACGAAGGCTCCTGCGGCAGCTGGCTGACCTTCGTCTAACTTGCGCCCGCCACAATCTCCCTTAGGATCCTAGTTATCCCCTTGCTTCCCACCCTGGTGGCACTCATGGGATTTGCAGGGGAGAAGATCAGCTTTAGCTGCACTGCTGCACTCACCTAAGATTTTGCTAATGTTGGAGTTATGCATGTCGGGGAAGGCCTGAAGGATTTTTCTCCTCTCATCCTTTGCCCAAACCATGAATGCATTCATTGGTCGCTTAATGTGTGGCTCGCTGCTGGCACGGCCGCGGGCGTCCCTGTAGACTCGTGCTTCAGCCACAGTGGCACCTCCTGTTGGCCAACAATAATACTGCTGTAGTTTAGCTGCAGAGCCATTCATTGCTTTACTTCCTGTAATGTCAGGGCAGGAAGAACAAGATGAGTGGAAAGCGTTATTTTGTGGATAATGTCACACAGCTTGCCGCCTGGGTCAGCTGTTTTCCCCAGGTCCTCCTCTTCTTTTCTAAGTGACTTCTTGGAAGTAGAAGGCAGGTTCAAATGACAGTTCTACAGGCTCTTCTGATGTAGCCCTCAAAGACACACTAAGAATTAATTTTGTGTGTGTTTTATACACCCTACCACATTTACTACAATAAATGGTAGGTGATCACAGAGCAATGAATGACATTACCTTATGGTAAACTTTCCTGCTGTAATTCCTTTCTTCAAAAACATGCTCTTACTGGTCATTTTAGACTCATTTGCCCCAGATCACAACCACTCTATATGTTTCCCAAAAATAGAATTGTTTTTCACAATATTGTCTTGACCTGTGCTCTTCTCACTGCCTAGAAGACACTTCTCCTACTCTTTCATGCTAAATCCCATTCAACCTTCAATCATGTTTCATGATTGAATGAATTAATTCAATGAAAAATATTTATTGAGCAATTACTATAACCTAGGTTTTATGCCAGGTGCTAAGGAGACCATGGTAAATAAAACAGCTCCTGCTTTTAAGGAGCTCACAGTTCAGAGTAAGGACAGACAATTATAACAAAGTGGGTGAGAGGTGCTACAATACTGACATTAACAGGGCACCAAAAAAGCACCAGATAGAATGGTCAGCTAGTGCTTCCTAGGAGATGTGATGTCTAAACCGAGTCTTCAAGGATGAATAGGAATCAACAAGTGAGTGGGAGAGGGAGTAAAGTCTGATGGGAAGGGTAATTCAGGGTAAAGGAACAGCACTTGCAGTGATGCTCCCCAGGCTGCACTCAGTCCTCTTGCTTTCAGGAGACATGCCCCATAGTAATTATTGTTTATGTGACTATCTCCCTCCTTTCCACTCCTCTCAGGAATACGAGATACCTAAAGTTAATGATTATGCTGTACTTATTCTTGTATCCTCAGGATTTTTCACATAATAGATAATAAAATATTCATTAAGCAAAGATTATTTGGTTTTCAACTCATATGCAAAAGTCATAGACTAAGAGGCATTTATTTCAAGCGTCCTGTTCTATTTTTCTGTTGTTTAAGGGTAGTTCTTTAACATCTATGAAACTATGCCTAAATTCCTGATGCTATATAATTTCCAAAGAGCTGACTCTAGTAACATACTAGATTGAAAGCTCCCTGAAGATAGGGCAAGGGATGGGTCTTATTCACTGCTGTATTCCTAGGATTCAATAAAGTACTTGGCACATAGGATTTCAATTAGTAAAATATGTTATATTAATGCATGAATGAATAAATAAATGAATGAATGAACATAGTTCTTACTTGTTTTCATGCACCCTATACCAGGGCGATATACTGATGTATACTTTGTGATGTGGCAACTCCTGAATATCTCCTACAGACTGAGAACTTCTATAATTAAAGGTAAAGTGGTCAGACTGATAGCCTCAGACAAGGCTTCTACCGCATAACAGGAAAGTCTACGCCCAGAAGTTTAGAAGCAAAATATACATTAAAACCAACATTTCTATTTTCTGGAAAAAGTAAATCCTTTCTGCTCAGTGAAGTTATTATACAGGACCAACATGATTCAATCAATCTCTGGCCCTTCCTCTCTATTTTTAGATACCTTGGTTAAGTAGACATTTGTTTGTGTCAAAGCCAGTAATAAATTACAACATTATAGTGCACTATTATTTAGCAAATATGGTTATCATTTACTGCAAACAAAAGACAGTATAAAAGGGTGGGATTGGCTAACATGAATTTTTTTCTAAACAGGAAGGAGGGCAGAAAGGCTACTTTCTGAAGATTATACAAAAATAACATATTTTATAAACAGCCCTTCTTTTAG
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CTGTACCAATAAAAGTACAAAAATTTTAATACGGTTTATACAGGAAGAAGGATAAGTATTCACTTCTCTAATATTGTTTATAAAGAATTATCTAAACACTTGATGAAGAGGGGATGTGTTTTTTTACATGTATCAAATTGCATTTTTGTGTCTCGCTGGTGAATAAAGCGGTAACAGCTGTGCAGACTGGATGTTAGCGATTCTTCAGTGGAGATTTTTCATACATAAACAAATGGAAAAGTTGTACAAATATTCTCTGCAGCCAGCAATATCCTAGTCTGCTTTAATAGCACATGCATCCCTGCTCTTTCCTGATTGTTGTTCAAAAGTTGTGTAGAAGGCCTAAGCAGATAGGCTTCTCTGTGTTCTGCTGGTTTCCAGCAGCTTAAAGCCCCAATTAACGAAGAATTCTTGGTGCTCTTGAAACGCTTGCACTTAAAACTTTACATTTTAATGAATATACTTACTATATTCCTAATAATTTTTTCACAGAATGCACACAAATAATATAGATTCCCCACAGCTGCCAAAATGGAAACAGAGAGGCTCTGTGCCCATCTGAAGGCTTACTCATATTGCTACTAAAAGGGCAGAAAAATATGAAAATCTTCAAGTTAGATATAAAACTGTAAGGCCAGAGAAGCACTGATTTTTTTTTTTTTTAGAATGTCATTTAACTAGAAAAAAAAAAATGTATGTCCACTAGGAACATTTTGGTTTGAAAGATATTTAAATTCAAAATAACATCCCTATGCATAACTCTGAAGCTCTAAAAATAAAAACCACACTTAATTGTAATGACATTTAGTATCCATTTTGAAATTAGAAAATCAAAAAAAAAAGAAAAACATATTTAACATTTCACCACTATTTGATCTTATGTATGTTTTAAATTTTTCTTAGAGGTCACTGCCTCAAAATGCCTCAGAATCAAGTTAAATTATTTATACAGTGACAAAACATGTGTATCTGTGCATGTCCAGATCACTGATATTTACTCAGGTTAAATATTTATTACTTTTGAACAAAACATTTAAAAAATTAAAACCACAGTTTAAGTCTCTAATGTTTTTCAGCTTCTTAAATGGCTTCCTTTGAGATTTTGTCACATCGTGACAGCTTTAAGTAGAGCAGTGCCTTCTGTGTTTTTCCTTTTTAAAGAGGAAACATGTTGACTGTAATGCTGCATGTTGAATAAAATATGTTTAACATGTTGAGCACAATAATTCCAAGCTGTACAATCCACACTAGGCAAGCTCTACACTAATAGAACAAGGCTTGAGTTTAATCCTGAGAAATAGAGAATCACTCTGGCAATTTACCACAAACTGGGCCTCTCCCCTGCAGCTCGTGTGTTCAGCTCACTGCTATGAAATTTGAACTAGTCATATCTTATTAAAATAATTGTAGATTTATTTTACAAGTTTTAAAGTGATCATCAGAGGCACTGTTTTGCACTCCATGAATTTCATACCATTTTGGGTTTCTAGTCCTTGATGAATTCTTTCAGTGGGACATATAAACCCAAGAACACTAAAGCAGAAAACTGTAGGGTCTATGAGTACTTCATAGCAACATATGAATTTAAGAGAACTGCACAGTAAAAGGAGATAAAGCTTGTCTCCACGATTCTTGTTTAGCAGTGACCTCTCAAGAGTTGCTAAATTCACAGTATTAACACATACTATAAATAGTTTTGTCTCTGAAATAAGTGTTCAGACAGTCCTGCCCTGGCACCTGGTGGATATAATAACTCCCAAACCTACATGCCACATTATGGGGTGGGGGAGGCAGACGTGATGACGAAGGCTCCTGCGGCAGCTGGCTGACCTTCGTCTAACTTGCGCCCGCCACAATCTCCCTTAGGATCCTAGTTATCCCCTTGCTTCCCACCCTGGTGGCACTCATGGGATTTGCAGGGGAGAAGATCAGCTTTAGCTGCACTGCTGCACTCACCTAAGATTTTGCTAATGTTGGAGTTATGCATGTCGGGGAAGGCCTGAAGGATTTTTCTCCTCTCATCCTTTGCCCAAACCATGAATGCATTCGTTGGTCGCTTAATGTGTGGCTCGCTGCTGGCACGGCCGCGGGCGTCCCTGTAGACTCGTGCTTCAGCCACAGTGGCACCTCCTGTTGGCCAACAATAATACTGCTGTAGTTTAGCTGCAGAGCCATTCATTGCTTTACTTCCTGTAATGTCAGGGCAGGAAGAACAAGATGAGTGGAAAGCGTTATTTTGTGGATAATGTCACACAGCTTGCCGCCTGGGTCAGCTGTTTTCCCCAGGTCCTCCTCTTCTTTTCTAAGTGACTTCTTGGAAGTAGAAGGCAGGTTCAAATGACAGTTCTACAGGCTCTTCTGATGTAGCCCTCAAAGACACACTAAGAATTAATTTTGTGTGTGTTTTATACACCCTACCACATTTACTACAATAAATGGTAGGTGATCACAGAGCAATGAATGACATTACCTTATGGTAAACTTTCCTGCTGTAATTCCTTTCTTCAAAAACATGCTCTTACTGGTCATTTTAGACTCATTTGCCCCAGATCACAACCACTCTATATGTTTCCCAAAAATAGAATTGTTTTTCACAATATTGTCTTGACCTGTGCTCTTCTCACTGCCTAGAAGACACTTCTCCTACTCTTTCATGCTAAATCCCATTCAACCTTCAATCATGTTTCATGATTGAATGAATTAATTCAATGAAAAATATTTATTGAGCAATTACTATAACCTAGGTTTTATGCCAGGTGCTAAGGAGACCATGGTAAATAAAACAGCTCCTGCTTTTAAGGAGCTCACAGTTCAGAGTAAGGACAGACAATTATAACAAAGTGGGTGAGAGGTGCTACAATACTGACATTAACAGGGCACCAAAAAAGCACCAGATAGAATGGTCAGCTAGTGCTTCCTAGGAGATGTGATGTCTAAACCGAGTCTTCAAGGATGAATAGGAATCAACAAGTGAGTGGGAGAGGGAGTAAAGTCTGATGGGAAGGGTAATTCAGGGTAAAGGAACAGCACTTGCAGTGATGCTCCCCAGGCTGCACTCAGTCCTCTTGCTTTCAGGAGACATGCCCCATAGTAATTATTGTTTATGTGACTATCTCCCTCCTTTCCACTCCTCTCAGGAATACGAGATACCTAAAGTTAATGATTATGCTGTACTTATTCTTGTATCCTCAGGATTTTTCACATAATAGATAATAAAATATTCATTAAGCAAAGATTATTTGGTTTTCAACTCATATGCAAAAGTCATAGACTAAGAGGCATTTATTTCAAGCGTCCTGTTCTATTTTTCTGTTGTTTAAGGGTAGTTCTTTAACATCTATGAAACTATGCCTAAATTCCTGATGCTATATAATTTCCAAAGAGCTGACTCTAGTAACATACTAGATTGAAAGCTCCCTGAAGATAGGGCAAGGGATGGGTCTTATTCACTGCTGTATTCCTAGGATTCAATAAAGTACTTGGCACATAGGATTTCAATTAGTAAAATATGTTATATTAATGCATGAATGAATAAATAAATGAATGAATGAACATAGTTCTTACTTGTTTTCATGCACCCTATACCAGGGCGATATACTGATGTATACTTTGTGATGTGGCAACTCCTGAATATCTCCTACAGACTGAGAACTTCTATAATTAAAGGTAAAGTGGTCAGACTGATAGCCTCAGACAAGGCTTCTACCGCATAACAGGAAAGTCTACGCCCAGAAGTTTAGAAGCAAAATATACATTAAAACCAACATTTCTATTTTCTGGAAAAAGTAAATCCTTTCTGCTCAGTGAAGTTATTATACAGGACCAACATGATTCAATCAATCTCTGGCCCTTCCTCTCTATTTTTAGATACCTTGGTTAAGTAGACATTTGTTTGTGTCAAAGCCAGTAATAAATTACAACATTATAGTGCACTATTATTTAGCAAATATGGTTATCATTTACTGCAAACAAAAGACAGTATAAAAGGGTGGGATTGGCTAACATGAATTTTTTTCTAAACAGGAAGGAGGGCAGAAAGGCTACTTTCTGAAGATTATACAAAAATAACATATTTTATAAACAGCCCTTCTTTTAG
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Task1_train_15343
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A variant affecting Chromosome 11, within the gene KCNJ11 (potassium inwardly rectifying channel subfamily J member 11), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Neonatal insulin-dependent diabetes mellitus
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TACTACACTAATGCCTATGACACCTCTATACCTCTCCCTGGGCACTCCAGCCTTCCAGCAGGTCCCTGGGAGTAGAGACAGAGCCCAGGGCTGCAAAGCCTGGTGAGTGCCCAAAGGCTGAGTTGGCCAGACAGGCTGACAGGGCTGGGCCACCTGAGACAGGAGAGGGGAAAGTCCCCCTGAACTGGTGGAAGAGGTGCCAGCCTTCCGTCCCTCCCCTGCCCTCCCCGCTAGGGTCTATGGCGCCTCTTGAAGGGGGTGGCAGCTGCCAGTCCCTGCCTCCCTTCCCACCAGCATGCTTGCTGCCTCCCCAGCAAGAAAAGCCCAGAGTTTAGGTCATGAGGGGGAGGCTTTATTGACAACGGAGAAGGCAGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCGGAGGGGAGCCCTGTCAGCCCCAGGCTGTCCCTGCCGGTGTAGGCTCCACAGCACCAACCCTCCAGCGGGAACACCCTCTCTCATCAACTGCCCTCCCTGCTGGCCAGGCCCAGCCCTTAGCCAGGTGCTTTTTCAGGGACCAAGTAGAGCTGGGGCCTGACCACAGGCACTTCTTGGAGCCACAGACGCAAAGCAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATACCACATGGTCCGTGTGTACACACGCGTGTGGGGGGCCCGAGAGACCATGGCTCAGGACAGGGAATCTGGAGAGATGCTGAACTTGGGCTTGGCCTTGGCCATGGGCACGCTGCGCTTGCGCAGGGGCCCGCGGGCTGAGGCGAGGGTCAGAGCTTCCAGTAGGCTGTGGTCCTCATCAAGCTGGCGGGCCGTGCAGAGTGGTGTGGGCACTTTGACGGTGTTGCCAAACTTGGAGTAGTCCACAGAGTAACGTCCGTCCTCCTCAGCTACAATGGGCACAAAGCGCTGGCCCCACAGGATCTCATCGGCCAGGTAGGAGGTGCGGGCCTGGGTGGTGATGCCCGTGGTTTCCACCACGCCTTCCAGGATGACGATGATCTCGAGGTCCTGGTGGTGGTGCAGGTCGCTGGGTGCCAGGTCGTAGAGTGGGCTGTTGGCATCAATGACATGGTAGATGATCAGCGGGGCCACCAGGAAGATGCTGTTGCCACCCACGCCGTTCTCCATGGGGATGTCCACCTGGTGGAGGGGCACCACCTCGCCCTCGGGGCTGGTGGTCTTGCGTACCACCTGCATGTGGATGGTGGCGCTGATGATCATGCTCTTGCGGAGGTCACCCACACGTAGCATGAAGCAGAGGCGGCCGTGGCGCAGGGCGATCACCGCATGCTTGCTGAAGATGAGGGTCTCAGCCCTGCGGTGGGCTTGGGCAGTCTTCATGAAGATGCAGCCAAGCATGATGGCGTTGATCATGAGCCCCACGATGTTCTGCACGATGAGGATCAGGATGGCCAGTGGGCACTCCTCAGTCACCATGCGCCCCCCAAAGCCAATAGTCACTTGGACCTCAATGGAGAAAAGGAAGGCAGACGAGAAGGAGTGGATGCTGGTGACACAGGGCTCAGCAGTGCCCTCGCTGGGGGCCAGGTCACCGTGGGCGAAGGCGATGAGCCACCAGGCCATGGCGAAGAGCAGCCAGCTGCACAGGAAGGACATGGTGAAGATGAGCAATGTGTGTGGCCACTTGAGGTCCACCAGCGTGGTGAACACGTCCTGCAGGAAGCGGCCCTGCTCCCGGATGTTCTTGTGGGCCACGTTGCAGTTGCCTTTCTTGGACACAAAGCGGGCCCTCCGCTGGCGGGCACGGTACCTGGGCTTGGCAGGGTCCTCTGCCAGGCGTGTCAGCACGTATTCCTCGGGGATGATGCCCTTGCGGGACAGCATGGCTCCGGTGACCCCCAGGGAGGGGCTTCCCCCATCGGAGGCACCCCTCGGACGTGGCCTAGGGCCTCACTGCAGAGTCCTCTCGGTGGGCACCTTCTCACCCTGGGGCTGCACTCAGCCTGTGCTGGCCTCACTTCTGAGATAACTCCCCACCAGACTCTTCCTTACCTCCACCTGGGTCCCACTTCACTTCTTAATACCAGCCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACGTTGGGAGGCTGAGGAGGGCAGATCACTAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAAAACAAAACAAAAAAAACAGCCTCACCCTTGAGCCCACCTGCCTGGCGCCTAGGGAGCCCCCAACCCTGCCGGCTCTCCACCTGGCCCTGCGTCCTCCCCCAGCTTCCCCCACCAGCTGACCACCCCTGGGCCTCCCGCTAAGAGCCCTTCTCCCCGCCCAGCCTGCCTTCCCAGCCCAGCTCAGAACTTAACACCTCCGGATCTCTCCCACTAACCGGACCTCACCCCCACCTCCGGGTCTCCCGCCTCACCTGTCTGGCCTTCGGGCTCCCAGGCTCCAGCTCAGGTCCTGGCCACCCCCGCCCCGTCTCTCCTCCAGGTGCGCCCCCTATGTCCTACTCCACCCCTCCCGGAGCGCCCCCGCCGCTTTCCGGATCCCCCTCCAGCTCTCGTCCTCTCTGTCTCCTTGGGATCCTGCGTTCTCTGGAGTCACCACCCCACCCGGCTCAACCGCGGCTCCCCGGACCTGCGCGCGACCCGGCGGGGCTGACTCCGAGTCGCGGCCTCCCGGTCCCTGCCGCCCGCCCGCGCCGCGGCTCCCGCTCCGCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCCTGCTCCTCACGCCACGGCCGTCGCCTCCCCGCCCCCTCCCGCCGCCCGGGCGCTCGCGGCTGGCCGTCCTCCCGTCTGTCTGTCCGTCCGTGGGTCCGCGGAGACCGACCTGGGCTAGGCAGGGGTCTAGGACGGCGGGAGGGGGGCGCACGAGGAGAGGAACGGGGCCGGGGACCGCCAGGGGGAGCCCGACCTGCACCGGAGCGCAGGGGGCGGGGCCGGAGCAAGCCCCCGCCCCTCCCGCGCCCCTCCCCGCCCCCGCCCTCCACCTCCCCTCCCGGGACTCACAACCCGGCCTTTGGAGTTTTTCTGATCCGCGGAACCCAGAGGTTCCTCCTGCCCACGCTCTACGAAAGTGGGGGGCTGGGAGGGATCTGTGACCCGCCCTCCCAGTCTGGGGCCGCCGCCCTGTCGCCCTGGCTCCCCTCCCCCAATATC
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TACTACACTAATGCCTATGACACCTCTATACCTCTCCCTGGGCACTCCAGCCTTCCAGCAGGTCCCTGGGAGTAGAGACAGAGCCCAGGGCTGCAAAGCCTGGTGAGTGCCCAAAGGCTGAGTTGGCCAGACAGGCTGACAGGGCTGGGCCACCTGAGACAGGAGAGGGGAAAGTCCCCCTGAACTGGTGGAAGAGGTGCCAGCCTTCCGTCCCTCCCCTGCCCTCCCCGCTAGGGTCTATGGCGCCTCTTGAAGGGGGTGGCAGCTGCCAGTCCCTGCCTCCCTTCCCACCAGCATGCTTGCTGCCTCCCCAGCAAGAAAAGCCCAGAGTTTAGGTCATGAGGGGGAGGCTTTATTGACAACGGAGAAGGCAGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCGGAGGGGAGCCCTGTCAGCCCCAGGCTGTCCCTGCCGGTGTAGGCTCCACAGCACCAACCCTCCAGCGGGAACACCCTCTCTCATCAACTGCCCTCCCTGCTGGCCAGGCCCAGCCCTTAGCCAGGTGCTTTTTCAGGGACCAAGTAGAGCTGGGGCCTGACCACAGGCACTTCTTGGAGCCACAGACGCAAAGCAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATACCACATGGTCCGTGTGTACACACGCGTGTGGGGGGCCCGAGAGACCATGGCTCAGGACAGGGAATCTGGAGAGATGCTGAACTTGGGCTTGGCCTTGGCCATGGGCACGCTGCGCTTGCGCAGGGGCCCGCGGGCTGAGGCGAGGGTCAGAGCTTCCAGTAGGCTGTGGTCCTCATCAAGCTGGCGGGCCGTGCAGAGTGGTGTGGGCACTTTGACGGTGTTGCCAAACTTGGAGTAGTCCACAGAGTAACGTCCGTCCTCCTCAGCTACAATGGGCACAAAGCGCTGGCCCCACAGGATCTCATCGGCCAGGTAGGAGGTGCGGGCCTGGGTGGTGATGCCCGTGGTTTCCACCACGCCTTCCAGGATGACGATGATCTCGAGGTCCTGGTGGTGGTGCAGGTCGCTGGGTGCCAGGTCGTAGAGTGGGCTGTTGGCATCAATGACATGGTAGATGATCAGCGGGGCCACCAGGAAGATGCTGTTGCCACCCACGCCGTTCTCCATGGGGATGTCCACCTGGTGGAGGGGCACCACCTCGCCCTCGGGGCTGGTGGTCTTGCGTACCACCTGCATGTGGATGGTGGCGCTGATGATCATGCTCTTGCGGAGGTCACCCACACGTAGCATGAAGCAGAGGCGGCCGTGGCGCAGGGCGATCACCGCATGCTTGCTGAAGATGAGGGTCTCAGCCCTGCGGTGGCCTTGGGCAGTCTTCATGAAGATGCAGCCAAGCATGATGGCGTTGATCATGAGCCCCACGATGTTCTGCACGATGAGGATCAGGATGGCCAGTGGGCACTCCTCAGTCACCATGCGCCCCCCAAAGCCAATAGTCACTTGGACCTCAATGGAGAAAAGGAAGGCAGACGAGAAGGAGTGGATGCTGGTGACACAGGGCTCAGCAGTGCCCTCGCTGGGGGCCAGGTCACCGTGGGCGAAGGCGATGAGCCACCAGGCCATGGCGAAGAGCAGCCAGCTGCACAGGAAGGACATGGTGAAGATGAGCAATGTGTGTGGCCACTTGAGGTCCACCAGCGTGGTGAACACGTCCTGCAGGAAGCGGCCCTGCTCCCGGATGTTCTTGTGGGCCACGTTGCAGTTGCCTTTCTTGGACACAAAGCGGGCCCTCCGCTGGCGGGCACGGTACCTGGGCTTGGCAGGGTCCTCTGCCAGGCGTGTCAGCACGTATTCCTCGGGGATGATGCCCTTGCGGGACAGCATGGCTCCGGTGACCCCCAGGGAGGGGCTTCCCCCATCGGAGGCACCCCTCGGACGTGGCCTAGGGCCTCACTGCAGAGTCCTCTCGGTGGGCACCTTCTCACCCTGGGGCTGCACTCAGCCTGTGCTGGCCTCACTTCTGAGATAACTCCCCACCAGACTCTTCCTTACCTCCACCTGGGTCCCACTTCACTTCTTAATACCAGCCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACGTTGGGAGGCTGAGGAGGGCAGATCACTAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAAAACAAAACAAAAAAAACAGCCTCACCCTTGAGCCCACCTGCCTGGCGCCTAGGGAGCCCCCAACCCTGCCGGCTCTCCACCTGGCCCTGCGTCCTCCCCCAGCTTCCCCCACCAGCTGACCACCCCTGGGCCTCCCGCTAAGAGCCCTTCTCCCCGCCCAGCCTGCCTTCCCAGCCCAGCTCAGAACTTAACACCTCCGGATCTCTCCCACTAACCGGACCTCACCCCCACCTCCGGGTCTCCCGCCTCACCTGTCTGGCCTTCGGGCTCCCAGGCTCCAGCTCAGGTCCTGGCCACCCCCGCCCCGTCTCTCCTCCAGGTGCGCCCCCTATGTCCTACTCCACCCCTCCCGGAGCGCCCCCGCCGCTTTCCGGATCCCCCTCCAGCTCTCGTCCTCTCTGTCTCCTTGGGATCCTGCGTTCTCTGGAGTCACCACCCCACCCGGCTCAACCGCGGCTCCCCGGACCTGCGCGCGACCCGGCGGGGCTGACTCCGAGTCGCGGCCTCCCGGTCCCTGCCGCCCGCCCGCGCCGCGGCTCCCGCTCCGCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCCTGCTCCTCACGCCACGGCCGTCGCCTCCCCGCCCCCTCCCGCCGCCCGGGCGCTCGCGGCTGGCCGTCCTCCCGTCTGTCTGTCCGTCCGTGGGTCCGCGGAGACCGACCTGGGCTAGGCAGGGGTCTAGGACGGCGGGAGGGGGGCGCACGAGGAGAGGAACGGGGCCGGGGACCGCCAGGGGGAGCCCGACCTGCACCGGAGCGCAGGGGGCGGGGCCGGAGCAAGCCCCCGCCCCTCCCGCGCCCCTCCCCGCCCCCGCCCTCCACCTCCCCTCCCGGGACTCACAACCCGGCCTTTGGAGTTTTTCTGATCCGCGGAACCCAGAGGTTCCTCCTGCCCACGCTCTACGAAAGTGGGGGGCTGGGAGGGATCTGTGACCCGCCCTCCCAGTCTGGGGCCGCCGCCCTGTCGCCCTGGCTCCCCTCCCCCAATATC
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Task1_train_15344
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A variant has been detected on Chromosome 11 in KCNJ11 (potassium inwardly rectifying channel subfamily J member 11). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Diabetes mellitus, transient neonatal, 3
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GAGAAGGCAGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCGGAGGGGAGCCCTGTCAGCCCCAGGCTGTCCCTGCCGGTGTAGGCTCCACAGCACCAACCCTCCAGCGGGAACACCCTCTCTCATCAACTGCCCTCCCTGCTGGCCAGGCCCAGCCCTTAGCCAGGTGCTTTTTCAGGGACCAAGTAGAGCTGGGGCCTGACCACAGGCACTTCTTGGAGCCACAGACGCAAAGCAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATACCACATGGTCCGTGTGTACACACGCGTGTGGGGGGCCCGAGAGACCATGGCTCAGGACAGGGAATCTGGAGAGATGCTGAACTTGGGCTTGGCCTTGGCCATGGGCACGCTGCGCTTGCGCAGGGGCCCGCGGGCTGAGGCGAGGGTCAGAGCTTCCAGTAGGCTGTGGTCCTCATCAAGCTGGCGGGCCGTGCAGAGTGGTGTGGGCACTTTGACGGTGTTGCCAAACTTGGAGTAGTCCACAGAGTAACGTCCGTCCTCCTCAGCTACAATGGGCACAAAGCGCTGGCCCCACAGGATCTCATCGGCCAGGTAGGAGGTGCGGGCCTGGGTGGTGATGCCCGTGGTTTCCACCACGCCTTCCAGGATGACGATGATCTCGAGGTCCTGGTGGTGGTGCAGGTCGCTGGGTGCCAGGTCGTAGAGTGGGCTGTTGGCATCAATGACATGGTAGATGATCAGCGGGGCCACCAGGAAGATGCTGTTGCCACCCACGCCGTTCTCCATGGGGATGTCCACCTGGTGGAGGGGCACCACCTCGCCCTCGGGGCTGGTGGTCTTGCGTACCACCTGCATGTGGATGGTGGCGCTGATGATCATGCTCTTGCGGAGGTCACCCACACGTAGCATGAAGCAGAGGCGGCCGTGGCGCAGGGCGATCACCGCATGCTTGCTGAAGATGAGGGTCTCAGCCCTGCGGTGGGCTTGGGCAGTCTTCATGAAGATGCAGCCAAGCATGATGGCGTTGATCATGAGCCCCACGATGTTCTGCACGATGAGGATCAGGATGGCCAGTGGGCACTCCTCAGTCACCATGCGCCCCCCAAAGCCAATAGTCACTTGGACCTCAATGGAGAAAAGGAAGGCAGACGAGAAGGAGTGGATGCTGGTGACACAGGGCTCAGCAGTGCCCTCGCTGGGGGCCAGGTCACCGTGGGCGAAGGCGATGAGCCACCAGGCCATGGCGAAGAGCAGCCAGCTGCACAGGAAGGACATGGTGAAGATGAGCAATGTGTGTGGCCACTTGAGGTCCACCAGCGTGGTGAACACGTCCTGCAGGAAGCGGCCCTGCTCCCGGATGTTCTTGTGGGCCACGTTGCAGTTGCCTTTCTTGGACACAAAGCGGGCCCTCCGCTGGCGGGCACGGTACCTGGGCTTGGCAGGGTCCTCTGCCAGGCGTGTCAGCACGTATTCCTCGGGGATGATGCCCTTGCGGGACAGCATGGCTCCGGTGACCCCCAGGGAGGGGCTTCCCCCATCGGAGGCACCCCTCGGACGTGGCCTAGGGCCTCACTGCAGAGTCCTCTCGGTGGGCACCTTCTCACCCTGGGGCTGCACTCAGCCTGTGCTGGCCTCACTTCTGAGATAACTCCCCACCAGACTCTTCCTTACCTCCACCTGGGTCCCACTTCACTTCTTAATACCAGCCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACGTTGGGAGGCTGAGGAGGGCAGATCACTAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAAAACAAAACAAAAAAAACAGCCTCACCCTTGAGCCCACCTGCCTGGCGCCTAGGGAGCCCCCAACCCTGCCGGCTCTCCACCTGGCCCTGCGTCCTCCCCCAGCTTCCCCCACCAGCTGACCACCCCTGGGCCTCCCGCTAAGAGCCCTTCTCCCCGCCCAGCCTGCCTTCCCAGCCCAGCTCAGAACTTAACACCTCCGGATCTCTCCCACTAACCGGACCTCACCCCCACCTCCGGGTCTCCCGCCTCACCTGTCTGGCCTTCGGGCTCCCAGGCTCCAGCTCAGGTCCTGGCCACCCCCGCCCCGTCTCTCCTCCAGGTGCGCCCCCTATGTCCTACTCCACCCCTCCCGGAGCGCCCCCGCCGCTTTCCGGATCCCCCTCCAGCTCTCGTCCTCTCTGTCTCCTTGGGATCCTGCGTTCTCTGGAGTCACCACCCCACCCGGCTCAACCGCGGCTCCCCGGACCTGCGCGCGACCCGGCGGGGCTGACTCCGAGTCGCGGCCTCCCGGTCCCTGCCGCCCGCCCGCGCCGCGGCTCCCGCTCCGCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCCTGCTCCTCACGCCACGGCCGTCGCCTCCCCGCCCCCTCCCGCCGCCCGGGCGCTCGCGGCTGGCCGTCCTCCCGTCTGTCTGTCCGTCCGTGGGTCCGCGGAGACCGACCTGGGCTAGGCAGGGGTCTAGGACGGCGGGAGGGGGGCGCACGAGGAGAGGAACGGGGCCGGGGACCGCCAGGGGGAGCCCGACCTGCACCGGAGCGCAGGGGGCGGGGCCGGAGCAAGCCCCCGCCCCTCCCGCGCCCCTCCCCGCCCCCGCCCTCCACCTCCCCTCCCGGGACTCACAACCCGGCCTTTGGAGTTTTTCTGATCCGCGGAACCCAGAGGTTCCTCCTGCCCACGCTCTACGAAAGTGGGGGGCTGGGAGGGATCTGTGACCCGCCCTCCCAGTCTGGGGCCGCCGCCCTGTCGCCCTGGCTCCCCTCCCCCAATATCCCCATCCGTATTTGGGTCAGTAATCCGCCTCTCGGCCGCGCCAGGTTTGCAGGTTCCCCGGGAAAGGAGGCGCTGAGAGGCGGCGCCACCAATCCCAGGGCTGGCGGAAATTAGGCGGTCCGAGGACTTCTCAACCTGCAGCTGCTTCTCTTTGGGGGATGCTCTTAATCTTAGTCTTGAATCCTTTGACAATCTGATGGAAGCTCAGACTCCCTCTCATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCTCGGCAGGAAAGGAGCACAGTTTAACACCTGCTACTGCTGTGGGGCAGCCTGGGCGGCTCCATCTTCTCAGCCATTCCGGCCCTACTTTAAAGAAGGTTTGAGCCGAGG
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GAGAAGGCAGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCGGAGGGGAGCCCTGTCAGCCCCAGGCTGTCCCTGCCGGTGTAGGCTCCACAGCACCAACCCTCCAGCGGGAACACCCTCTCTCATCAACTGCCCTCCCTGCTGGCCAGGCCCAGCCCTTAGCCAGGTGCTTTTTCAGGGACCAAGTAGAGCTGGGGCCTGACCACAGGCACTTCTTGGAGCCACAGACGCAAAGCAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATACCACATGGTCCGTGTGTACACACGCGTGTGGGGGGCCCGAGAGACCATGGCTCAGGACAGGGAATCTGGAGAGATGCTGAACTTGGGCTTGGCCTTGGCCATGGGCACGCTGCGCTTGCGCAGGGGCCCGCGGGCTGAGGCGAGGGTCAGAGCTTCCAGTAGGCTGTGGTCCTCATCAAGCTGGCGGGCCGTGCAGAGTGGTGTGGGCACTTTGACGGTGTTGCCAAACTTGGAGTAGTCCACAGAGTAACGTCCGTCCTCCTCAGCTACAATGGGCACAAAGCGCTGGCCCCACAGGATCTCATCGGCCAGGTAGGAGGTGCGGGCCTGGGTGGTGATGCCCGTGGTTTCCACCACGCCTTCCAGGATGACGATGATCTCGAGGTCCTGGTGGTGGTGCAGGTCGCTGGGTGCCAGGTCGTAGAGTGGGCTGTTGGCATCAATGACATGGTAGATGATCAGCGGGGCCACCAGGAAGATGCTGTTGCCACCCACGCCGTTCTCCATGGGGATGTCCACCTGGTGGAGGGGCACCACCTCGCCCTCGGGGCTGGTGGTCTTGCGTACCACCTGCATGTGGATGGTGGCGCTGATGATCATGCTCTTGCGGAGGTCACCCACACGTAGCATGAAGCAGAGGCGGCCGTGGCGCAGGGCGATCACCGCATGCTTGCTGAAGATGAGGGTCTCAGCCCTGCGGTGGGCTTGGGCAGTCTTCATGAAGATGCAGCCAAGCATGATGGCGTTGATCATGAGCCCCACGATGTTCTGCACGATGAGGATCAGGATGGCCAGTGGGCACTCCTCAGTCACCATGCGCCCCCCAAAGCCAATAGTCACTTGGACCTCAATGGAGAAAAGGAAGGCAGACGAGAAGGAGTGGATGCTGGTGACACAGGGCTCAGCAGTGCCCTCGCTGGGGGCCAGGTCACCGTGGGCGAAGGCGATGAGCCACCAGGCCATGGCGAAGAGCAGCCAGCTGCACAGGAAGGACATGGTGAAGATGAGCAATGTGTGTGGCCACTTGAGGTCCACCAGCGTGGTGAACACGTCCTGCAGGAAGCGGCGCTGCTCCCGGATGTTCTTGTGGGCCACGTTGCAGTTGCCTTTCTTGGACACAAAGCGGGCCCTCCGCTGGCGGGCACGGTACCTGGGCTTGGCAGGGTCCTCTGCCAGGCGTGTCAGCACGTATTCCTCGGGGATGATGCCCTTGCGGGACAGCATGGCTCCGGTGACCCCCAGGGAGGGGCTTCCCCCATCGGAGGCACCCCTCGGACGTGGCCTAGGGCCTCACTGCAGAGTCCTCTCGGTGGGCACCTTCTCACCCTGGGGCTGCACTCAGCCTGTGCTGGCCTCACTTCTGAGATAACTCCCCACCAGACTCTTCCTTACCTCCACCTGGGTCCCACTTCACTTCTTAATACCAGCCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACGTTGGGAGGCTGAGGAGGGCAGATCACTAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAAAACAAAACAAAAAAAACAGCCTCACCCTTGAGCCCACCTGCCTGGCGCCTAGGGAGCCCCCAACCCTGCCGGCTCTCCACCTGGCCCTGCGTCCTCCCCCAGCTTCCCCCACCAGCTGACCACCCCTGGGCCTCCCGCTAAGAGCCCTTCTCCCCGCCCAGCCTGCCTTCCCAGCCCAGCTCAGAACTTAACACCTCCGGATCTCTCCCACTAACCGGACCTCACCCCCACCTCCGGGTCTCCCGCCTCACCTGTCTGGCCTTCGGGCTCCCAGGCTCCAGCTCAGGTCCTGGCCACCCCCGCCCCGTCTCTCCTCCAGGTGCGCCCCCTATGTCCTACTCCACCCCTCCCGGAGCGCCCCCGCCGCTTTCCGGATCCCCCTCCAGCTCTCGTCCTCTCTGTCTCCTTGGGATCCTGCGTTCTCTGGAGTCACCACCCCACCCGGCTCAACCGCGGCTCCCCGGACCTGCGCGCGACCCGGCGGGGCTGACTCCGAGTCGCGGCCTCCCGGTCCCTGCCGCCCGCCCGCGCCGCGGCTCCCGCTCCGCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCCTGCTCCTCACGCCACGGCCGTCGCCTCCCCGCCCCCTCCCGCCGCCCGGGCGCTCGCGGCTGGCCGTCCTCCCGTCTGTCTGTCCGTCCGTGGGTCCGCGGAGACCGACCTGGGCTAGGCAGGGGTCTAGGACGGCGGGAGGGGGGCGCACGAGGAGAGGAACGGGGCCGGGGACCGCCAGGGGGAGCCCGACCTGCACCGGAGCGCAGGGGGCGGGGCCGGAGCAAGCCCCCGCCCCTCCCGCGCCCCTCCCCGCCCCCGCCCTCCACCTCCCCTCCCGGGACTCACAACCCGGCCTTTGGAGTTTTTCTGATCCGCGGAACCCAGAGGTTCCTCCTGCCCACGCTCTACGAAAGTGGGGGGCTGGGAGGGATCTGTGACCCGCCCTCCCAGTCTGGGGCCGCCGCCCTGTCGCCCTGGCTCCCCTCCCCCAATATCCCCATCCGTATTTGGGTCAGTAATCCGCCTCTCGGCCGCGCCAGGTTTGCAGGTTCCCCGGGAAAGGAGGCGCTGAGAGGCGGCGCCACCAATCCCAGGGCTGGCGGAAATTAGGCGGTCCGAGGACTTCTCAACCTGCAGCTGCTTCTCTTTGGGGGATGCTCTTAATCTTAGTCTTGAATCCTTTGACAATCTGATGGAAGCTCAGACTCCCTCTCATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCTCGGCAGGAAAGGAGCACAGTTTAACACCTGCTACTGCTGTGGGGCAGCCTGGGCGGCTCCATCTTCTCAGCCATTCCGGCCCTACTTTAAAGAAGGTTTGAGCCGAGG
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Task1_train_15345
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Chromosome 11 houses a mutation in gene KCNJ11 (potassium inwardly rectifying channel subfamily J member 11). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; KCNJ11-related disorder
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AGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCGGAGGGGAGCCCTGTCAGCCCCAGGCTGTCCCTGCCGGTGTAGGCTCCACAGCACCAACCCTCCAGCGGGAACACCCTCTCTCATCAACTGCCCTCCCTGCTGGCCAGGCCCAGCCCTTAGCCAGGTGCTTTTTCAGGGACCAAGTAGAGCTGGGGCCTGACCACAGGCACTTCTTGGAGCCACAGACGCAAAGCAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATACCACATGGTCCGTGTGTACACACGCGTGTGGGGGGCCCGAGAGACCATGGCTCAGGACAGGGAATCTGGAGAGATGCTGAACTTGGGCTTGGCCTTGGCCATGGGCACGCTGCGCTTGCGCAGGGGCCCGCGGGCTGAGGCGAGGGTCAGAGCTTCCAGTAGGCTGTGGTCCTCATCAAGCTGGCGGGCCGTGCAGAGTGGTGTGGGCACTTTGACGGTGTTGCCAAACTTGGAGTAGTCCACAGAGTAACGTCCGTCCTCCTCAGCTACAATGGGCACAAAGCGCTGGCCCCACAGGATCTCATCGGCCAGGTAGGAGGTGCGGGCCTGGGTGGTGATGCCCGTGGTTTCCACCACGCCTTCCAGGATGACGATGATCTCGAGGTCCTGGTGGTGGTGCAGGTCGCTGGGTGCCAGGTCGTAGAGTGGGCTGTTGGCATCAATGACATGGTAGATGATCAGCGGGGCCACCAGGAAGATGCTGTTGCCACCCACGCCGTTCTCCATGGGGATGTCCACCTGGTGGAGGGGCACCACCTCGCCCTCGGGGCTGGTGGTCTTGCGTACCACCTGCATGTGGATGGTGGCGCTGATGATCATGCTCTTGCGGAGGTCACCCACACGTAGCATGAAGCAGAGGCGGCCGTGGCGCAGGGCGATCACCGCATGCTTGCTGAAGATGAGGGTCTCAGCCCTGCGGTGGGCTTGGGCAGTCTTCATGAAGATGCAGCCAAGCATGATGGCGTTGATCATGAGCCCCACGATGTTCTGCACGATGAGGATCAGGATGGCCAGTGGGCACTCCTCAGTCACCATGCGCCCCCCAAAGCCAATAGTCACTTGGACCTCAATGGAGAAAAGGAAGGCAGACGAGAAGGAGTGGATGCTGGTGACACAGGGCTCAGCAGTGCCCTCGCTGGGGGCCAGGTCACCGTGGGCGAAGGCGATGAGCCACCAGGCCATGGCGAAGAGCAGCCAGCTGCACAGGAAGGACATGGTGAAGATGAGCAATGTGTGTGGCCACTTGAGGTCCACCAGCGTGGTGAACACGTCCTGCAGGAAGCGGCCCTGCTCCCGGATGTTCTTGTGGGCCACGTTGCAGTTGCCTTTCTTGGACACAAAGCGGGCCCTCCGCTGGCGGGCACGGTACCTGGGCTTGGCAGGGTCCTCTGCCAGGCGTGTCAGCACGTATTCCTCGGGGATGATGCCCTTGCGGGACAGCATGGCTCCGGTGACCCCCAGGGAGGGGCTTCCCCCATCGGAGGCACCCCTCGGACGTGGCCTAGGGCCTCACTGCAGAGTCCTCTCGGTGGGCACCTTCTCACCCTGGGGCTGCACTCAGCCTGTGCTGGCCTCACTTCTGAGATAACTCCCCACCAGACTCTTCCTTACCTCCACCTGGGTCCCACTTCACTTCTTAATACCAGCCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACGTTGGGAGGCTGAGGAGGGCAGATCACTAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAAAACAAAACAAAAAAAACAGCCTCACCCTTGAGCCCACCTGCCTGGCGCCTAGGGAGCCCCCAACCCTGCCGGCTCTCCACCTGGCCCTGCGTCCTCCCCCAGCTTCCCCCACCAGCTGACCACCCCTGGGCCTCCCGCTAAGAGCCCTTCTCCCCGCCCAGCCTGCCTTCCCAGCCCAGCTCAGAACTTAACACCTCCGGATCTCTCCCACTAACCGGACCTCACCCCCACCTCCGGGTCTCCCGCCTCACCTGTCTGGCCTTCGGGCTCCCAGGCTCCAGCTCAGGTCCTGGCCACCCCCGCCCCGTCTCTCCTCCAGGTGCGCCCCCTATGTCCTACTCCACCCCTCCCGGAGCGCCCCCGCCGCTTTCCGGATCCCCCTCCAGCTCTCGTCCTCTCTGTCTCCTTGGGATCCTGCGTTCTCTGGAGTCACCACCCCACCCGGCTCAACCGCGGCTCCCCGGACCTGCGCGCGACCCGGCGGGGCTGACTCCGAGTCGCGGCCTCCCGGTCCCTGCCGCCCGCCCGCGCCGCGGCTCCCGCTCCGCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCCTGCTCCTCACGCCACGGCCGTCGCCTCCCCGCCCCCTCCCGCCGCCCGGGCGCTCGCGGCTGGCCGTCCTCCCGTCTGTCTGTCCGTCCGTGGGTCCGCGGAGACCGACCTGGGCTAGGCAGGGGTCTAGGACGGCGGGAGGGGGGCGCACGAGGAGAGGAACGGGGCCGGGGACCGCCAGGGGGAGCCCGACCTGCACCGGAGCGCAGGGGGCGGGGCCGGAGCAAGCCCCCGCCCCTCCCGCGCCCCTCCCCGCCCCCGCCCTCCACCTCCCCTCCCGGGACTCACAACCCGGCCTTTGGAGTTTTTCTGATCCGCGGAACCCAGAGGTTCCTCCTGCCCACGCTCTACGAAAGTGGGGGGCTGGGAGGGATCTGTGACCCGCCCTCCCAGTCTGGGGCCGCCGCCCTGTCGCCCTGGCTCCCCTCCCCCAATATCCCCATCCGTATTTGGGTCAGTAATCCGCCTCTCGGCCGCGCCAGGTTTGCAGGTTCCCCGGGAAAGGAGGCGCTGAGAGGCGGCGCCACCAATCCCAGGGCTGGCGGAAATTAGGCGGTCCGAGGACTTCTCAACCTGCAGCTGCTTCTCTTTGGGGGATGCTCTTAATCTTAGTCTTGAATCCTTTGACAATCTGATGGAAGCTCAGACTCCCTCTCATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCTCGGCAGGAAAGGAGCACAGTTTAACACCTGCTACTGCTGTGGGGCAGCCTGGGCGGCTCCATCTTCTCAGCCATTCCGGCCCTACTTTAAAGAAGGTTTGAGCCGAGGCCACTTGC
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AGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCGGAGGGGAGCCCTGTCAGCCCCAGGCTGTCCCTGCCGGTGTAGGCTCCACAGCACCAACCCTCCAGCGGGAACACCCTCTCTCATCAACTGCCCTCCCTGCTGGCCAGGCCCAGCCCTTAGCCAGGTGCTTTTTCAGGGACCAAGTAGAGCTGGGGCCTGACCACAGGCACTTCTTGGAGCCACAGACGCAAAGCAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATACCACATGGTCCGTGTGTACACACGCGTGTGGGGGGCCCGAGAGACCATGGCTCAGGACAGGGAATCTGGAGAGATGCTGAACTTGGGCTTGGCCTTGGCCATGGGCACGCTGCGCTTGCGCAGGGGCCCGCGGGCTGAGGCGAGGGTCAGAGCTTCCAGTAGGCTGTGGTCCTCATCAAGCTGGCGGGCCGTGCAGAGTGGTGTGGGCACTTTGACGGTGTTGCCAAACTTGGAGTAGTCCACAGAGTAACGTCCGTCCTCCTCAGCTACAATGGGCACAAAGCGCTGGCCCCACAGGATCTCATCGGCCAGGTAGGAGGTGCGGGCCTGGGTGGTGATGCCCGTGGTTTCCACCACGCCTTCCAGGATGACGATGATCTCGAGGTCCTGGTGGTGGTGCAGGTCGCTGGGTGCCAGGTCGTAGAGTGGGCTGTTGGCATCAATGACATGGTAGATGATCAGCGGGGCCACCAGGAAGATGCTGTTGCCACCCACGCCGTTCTCCATGGGGATGTCCACCTGGTGGAGGGGCACCACCTCGCCCTCGGGGCTGGTGGTCTTGCGTACCACCTGCATGTGGATGGTGGCGCTGATGATCATGCTCTTGCGGAGGTCACCCACACGTAGCATGAAGCAGAGGCGGCCGTGGCGCAGGGCGATCACCGCATGCTTGCTGAAGATGAGGGTCTCAGCCCTGCGGTGGGCTTGGGCAGTCTTCATGAAGATGCAGCCAAGCATGATGGCGTTGATCATGAGCCCCACGATGTTCTGCACGATGAGGATCAGGATGGCCAGTGGGCACTCCTCAGTCACCATGCGCCCCCCAAAGCCAATAGTCACTTGGACCTCAATGGAGAAAAGGAAGGCAGACGAGAAGGAGTGGATGCTGGTGACACAGGGCTCAGCAGTGCCCTCGCTGGGGGCCAGGTCACCGTGGGCGAAGGCGATGAGCCACCAGGCCATGGCGAAGAGCAGCCAGCTGCACAGGAAGGACATGGTGAAGATGAGCAATGTGTGTGGCCACTTGAGGTCCACCAGCGTGGTGAACACGTCCTGCAGGAAGCGGCCCTGCTCCGGGATGTTCTTGTGGGCCACGTTGCAGTTGCCTTTCTTGGACACAAAGCGGGCCCTCCGCTGGCGGGCACGGTACCTGGGCTTGGCAGGGTCCTCTGCCAGGCGTGTCAGCACGTATTCCTCGGGGATGATGCCCTTGCGGGACAGCATGGCTCCGGTGACCCCCAGGGAGGGGCTTCCCCCATCGGAGGCACCCCTCGGACGTGGCCTAGGGCCTCACTGCAGAGTCCTCTCGGTGGGCACCTTCTCACCCTGGGGCTGCACTCAGCCTGTGCTGGCCTCACTTCTGAGATAACTCCCCACCAGACTCTTCCTTACCTCCACCTGGGTCCCACTTCACTTCTTAATACCAGCCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACGTTGGGAGGCTGAGGAGGGCAGATCACTAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAAAACAAAACAAAAAAAACAGCCTCACCCTTGAGCCCACCTGCCTGGCGCCTAGGGAGCCCCCAACCCTGCCGGCTCTCCACCTGGCCCTGCGTCCTCCCCCAGCTTCCCCCACCAGCTGACCACCCCTGGGCCTCCCGCTAAGAGCCCTTCTCCCCGCCCAGCCTGCCTTCCCAGCCCAGCTCAGAACTTAACACCTCCGGATCTCTCCCACTAACCGGACCTCACCCCCACCTCCGGGTCTCCCGCCTCACCTGTCTGGCCTTCGGGCTCCCAGGCTCCAGCTCAGGTCCTGGCCACCCCCGCCCCGTCTCTCCTCCAGGTGCGCCCCCTATGTCCTACTCCACCCCTCCCGGAGCGCCCCCGCCGCTTTCCGGATCCCCCTCCAGCTCTCGTCCTCTCTGTCTCCTTGGGATCCTGCGTTCTCTGGAGTCACCACCCCACCCGGCTCAACCGCGGCTCCCCGGACCTGCGCGCGACCCGGCGGGGCTGACTCCGAGTCGCGGCCTCCCGGTCCCTGCCGCCCGCCCGCGCCGCGGCTCCCGCTCCGCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCCTGCTCCTCACGCCACGGCCGTCGCCTCCCCGCCCCCTCCCGCCGCCCGGGCGCTCGCGGCTGGCCGTCCTCCCGTCTGTCTGTCCGTCCGTGGGTCCGCGGAGACCGACCTGGGCTAGGCAGGGGTCTAGGACGGCGGGAGGGGGGCGCACGAGGAGAGGAACGGGGCCGGGGACCGCCAGGGGGAGCCCGACCTGCACCGGAGCGCAGGGGGCGGGGCCGGAGCAAGCCCCCGCCCCTCCCGCGCCCCTCCCCGCCCCCGCCCTCCACCTCCCCTCCCGGGACTCACAACCCGGCCTTTGGAGTTTTTCTGATCCGCGGAACCCAGAGGTTCCTCCTGCCCACGCTCTACGAAAGTGGGGGGCTGGGAGGGATCTGTGACCCGCCCTCCCAGTCTGGGGCCGCCGCCCTGTCGCCCTGGCTCCCCTCCCCCAATATCCCCATCCGTATTTGGGTCAGTAATCCGCCTCTCGGCCGCGCCAGGTTTGCAGGTTCCCCGGGAAAGGAGGCGCTGAGAGGCGGCGCCACCAATCCCAGGGCTGGCGGAAATTAGGCGGTCCGAGGACTTCTCAACCTGCAGCTGCTTCTCTTTGGGGGATGCTCTTAATCTTAGTCTTGAATCCTTTGACAATCTGATGGAAGCTCAGACTCCCTCTCATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCTCGGCAGGAAAGGAGCACAGTTTAACACCTGCTACTGCTGTGGGGCAGCCTGGGCGGCTCCATCTTCTCAGCCATTCCGGCCCTACTTTAAAGAAGGTTTGAGCCGAGGCCACTTGC
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Task1_train_15346
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Here’s a variant in KCNJ11 (potassium inwardly rectifying channel subfamily J member 11) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; not provided
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GAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCGGAGGGGAGCCCTGTCAGCCCCAGGCTGTCCCTGCCGGTGTAGGCTCCACAGCACCAACCCTCCAGCGGGAACACCCTCTCTCATCAACTGCCCTCCCTGCTGGCCAGGCCCAGCCCTTAGCCAGGTGCTTTTTCAGGGACCAAGTAGAGCTGGGGCCTGACCACAGGCACTTCTTGGAGCCACAGACGCAAAGCAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATACCACATGGTCCGTGTGTACACACGCGTGTGGGGGGCCCGAGAGACCATGGCTCAGGACAGGGAATCTGGAGAGATGCTGAACTTGGGCTTGGCCTTGGCCATGGGCACGCTGCGCTTGCGCAGGGGCCCGCGGGCTGAGGCGAGGGTCAGAGCTTCCAGTAGGCTGTGGTCCTCATCAAGCTGGCGGGCCGTGCAGAGTGGTGTGGGCACTTTGACGGTGTTGCCAAACTTGGAGTAGTCCACAGAGTAACGTCCGTCCTCCTCAGCTACAATGGGCACAAAGCGCTGGCCCCACAGGATCTCATCGGCCAGGTAGGAGGTGCGGGCCTGGGTGGTGATGCCCGTGGTTTCCACCACGCCTTCCAGGATGACGATGATCTCGAGGTCCTGGTGGTGGTGCAGGTCGCTGGGTGCCAGGTCGTAGAGTGGGCTGTTGGCATCAATGACATGGTAGATGATCAGCGGGGCCACCAGGAAGATGCTGTTGCCACCCACGCCGTTCTCCATGGGGATGTCCACCTGGTGGAGGGGCACCACCTCGCCCTCGGGGCTGGTGGTCTTGCGTACCACCTGCATGTGGATGGTGGCGCTGATGATCATGCTCTTGCGGAGGTCACCCACACGTAGCATGAAGCAGAGGCGGCCGTGGCGCAGGGCGATCACCGCATGCTTGCTGAAGATGAGGGTCTCAGCCCTGCGGTGGGCTTGGGCAGTCTTCATGAAGATGCAGCCAAGCATGATGGCGTTGATCATGAGCCCCACGATGTTCTGCACGATGAGGATCAGGATGGCCAGTGGGCACTCCTCAGTCACCATGCGCCCCCCAAAGCCAATAGTCACTTGGACCTCAATGGAGAAAAGGAAGGCAGACGAGAAGGAGTGGATGCTGGTGACACAGGGCTCAGCAGTGCCCTCGCTGGGGGCCAGGTCACCGTGGGCGAAGGCGATGAGCCACCAGGCCATGGCGAAGAGCAGCCAGCTGCACAGGAAGGACATGGTGAAGATGAGCAATGTGTGTGGCCACTTGAGGTCCACCAGCGTGGTGAACACGTCCTGCAGGAAGCGGCCCTGCTCCCGGATGTTCTTGTGGGCCACGTTGCAGTTGCCTTTCTTGGACACAAAGCGGGCCCTCCGCTGGCGGGCACGGTACCTGGGCTTGGCAGGGTCCTCTGCCAGGCGTGTCAGCACGTATTCCTCGGGGATGATGCCCTTGCGGGACAGCATGGCTCCGGTGACCCCCAGGGAGGGGCTTCCCCCATCGGAGGCACCCCTCGGACGTGGCCTAGGGCCTCACTGCAGAGTCCTCTCGGTGGGCACCTTCTCACCCTGGGGCTGCACTCAGCCTGTGCTGGCCTCACTTCTGAGATAACTCCCCACCAGACTCTTCCTTACCTCCACCTGGGTCCCACTTCACTTCTTAATACCAGCCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACGTTGGGAGGCTGAGGAGGGCAGATCACTAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAAAACAAAACAAAAAAAACAGCCTCACCCTTGAGCCCACCTGCCTGGCGCCTAGGGAGCCCCCAACCCTGCCGGCTCTCCACCTGGCCCTGCGTCCTCCCCCAGCTTCCCCCACCAGCTGACCACCCCTGGGCCTCCCGCTAAGAGCCCTTCTCCCCGCCCAGCCTGCCTTCCCAGCCCAGCTCAGAACTTAACACCTCCGGATCTCTCCCACTAACCGGACCTCACCCCCACCTCCGGGTCTCCCGCCTCACCTGTCTGGCCTTCGGGCTCCCAGGCTCCAGCTCAGGTCCTGGCCACCCCCGCCCCGTCTCTCCTCCAGGTGCGCCCCCTATGTCCTACTCCACCCCTCCCGGAGCGCCCCCGCCGCTTTCCGGATCCCCCTCCAGCTCTCGTCCTCTCTGTCTCCTTGGGATCCTGCGTTCTCTGGAGTCACCACCCCACCCGGCTCAACCGCGGCTCCCCGGACCTGCGCGCGACCCGGCGGGGCTGACTCCGAGTCGCGGCCTCCCGGTCCCTGCCGCCCGCCCGCGCCGCGGCTCCCGCTCCGCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCCTGCTCCTCACGCCACGGCCGTCGCCTCCCCGCCCCCTCCCGCCGCCCGGGCGCTCGCGGCTGGCCGTCCTCCCGTCTGTCTGTCCGTCCGTGGGTCCGCGGAGACCGACCTGGGCTAGGCAGGGGTCTAGGACGGCGGGAGGGGGGCGCACGAGGAGAGGAACGGGGCCGGGGACCGCCAGGGGGAGCCCGACCTGCACCGGAGCGCAGGGGGCGGGGCCGGAGCAAGCCCCCGCCCCTCCCGCGCCCCTCCCCGCCCCCGCCCTCCACCTCCCCTCCCGGGACTCACAACCCGGCCTTTGGAGTTTTTCTGATCCGCGGAACCCAGAGGTTCCTCCTGCCCACGCTCTACGAAAGTGGGGGGCTGGGAGGGATCTGTGACCCGCCCTCCCAGTCTGGGGCCGCCGCCCTGTCGCCCTGGCTCCCCTCCCCCAATATCCCCATCCGTATTTGGGTCAGTAATCCGCCTCTCGGCCGCGCCAGGTTTGCAGGTTCCCCGGGAAAGGAGGCGCTGAGAGGCGGCGCCACCAATCCCAGGGCTGGCGGAAATTAGGCGGTCCGAGGACTTCTCAACCTGCAGCTGCTTCTCTTTGGGGGATGCTCTTAATCTTAGTCTTGAATCCTTTGACAATCTGATGGAAGCTCAGACTCCCTCTCATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCTCGGCAGGAAAGGAGCACAGTTTAACACCTGCTACTGCTGTGGGGCAGCCTGGGCGGCTCCATCTTCTCAGCCATTCCGGCCCTACTTTAAAGAAGGTTTGAGCCGAGGCCACTTGCT
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GAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCGGAGGGGAGCCCTGTCAGCCCCAGGCTGTCCCTGCCGGTGTAGGCTCCACAGCACCAACCCTCCAGCGGGAACACCCTCTCTCATCAACTGCCCTCCCTGCTGGCCAGGCCCAGCCCTTAGCCAGGTGCTTTTTCAGGGACCAAGTAGAGCTGGGGCCTGACCACAGGCACTTCTTGGAGCCACAGACGCAAAGCAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATACCACATGGTCCGTGTGTACACACGCGTGTGGGGGGCCCGAGAGACCATGGCTCAGGACAGGGAATCTGGAGAGATGCTGAACTTGGGCTTGGCCTTGGCCATGGGCACGCTGCGCTTGCGCAGGGGCCCGCGGGCTGAGGCGAGGGTCAGAGCTTCCAGTAGGCTGTGGTCCTCATCAAGCTGGCGGGCCGTGCAGAGTGGTGTGGGCACTTTGACGGTGTTGCCAAACTTGGAGTAGTCCACAGAGTAACGTCCGTCCTCCTCAGCTACAATGGGCACAAAGCGCTGGCCCCACAGGATCTCATCGGCCAGGTAGGAGGTGCGGGCCTGGGTGGTGATGCCCGTGGTTTCCACCACGCCTTCCAGGATGACGATGATCTCGAGGTCCTGGTGGTGGTGCAGGTCGCTGGGTGCCAGGTCGTAGAGTGGGCTGTTGGCATCAATGACATGGTAGATGATCAGCGGGGCCACCAGGAAGATGCTGTTGCCACCCACGCCGTTCTCCATGGGGATGTCCACCTGGTGGAGGGGCACCACCTCGCCCTCGGGGCTGGTGGTCTTGCGTACCACCTGCATGTGGATGGTGGCGCTGATGATCATGCTCTTGCGGAGGTCACCCACACGTAGCATGAAGCAGAGGCGGCCGTGGCGCAGGGCGATCACCGCATGCTTGCTGAAGATGAGGGTCTCAGCCCTGCGGTGGGCTTGGGCAGTCTTCATGAAGATGCAGCCAAGCATGATGGCGTTGATCATGAGCCCCACGATGTTCTGCACGATGAGGATCAGGATGGCCAGTGGGCACTCCTCAGTCACCATGCGCCCCCCAAAGCCAATAGTCACTTGGACCTCAATGGAGAAAAGGAAGGCAGACGAGAAGGAGTGGATGCTGGTGACACAGGGCTCAGCAGTGCCCTCGCTGGGGGCCAGGTCACCGTGGGCGAAGGCGATGAGCCACCAGGCCATGGCGAAGAGCAGCCAGCTGCACAGGAAGGACATGGTGAAGATGAGCAATGTGTGTGGCCACTTGAGGTCCACCAGCGTGGTGAACACGTCCTGCAGGAAGCGGCCCTGCTCCCCGATGTTCTTGTGGGCCACGTTGCAGTTGCCTTTCTTGGACACAAAGCGGGCCCTCCGCTGGCGGGCACGGTACCTGGGCTTGGCAGGGTCCTCTGCCAGGCGTGTCAGCACGTATTCCTCGGGGATGATGCCCTTGCGGGACAGCATGGCTCCGGTGACCCCCAGGGAGGGGCTTCCCCCATCGGAGGCACCCCTCGGACGTGGCCTAGGGCCTCACTGCAGAGTCCTCTCGGTGGGCACCTTCTCACCCTGGGGCTGCACTCAGCCTGTGCTGGCCTCACTTCTGAGATAACTCCCCACCAGACTCTTCCTTACCTCCACCTGGGTCCCACTTCACTTCTTAATACCAGCCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACGTTGGGAGGCTGAGGAGGGCAGATCACTAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAAAACAAAACAAAAAAAACAGCCTCACCCTTGAGCCCACCTGCCTGGCGCCTAGGGAGCCCCCAACCCTGCCGGCTCTCCACCTGGCCCTGCGTCCTCCCCCAGCTTCCCCCACCAGCTGACCACCCCTGGGCCTCCCGCTAAGAGCCCTTCTCCCCGCCCAGCCTGCCTTCCCAGCCCAGCTCAGAACTTAACACCTCCGGATCTCTCCCACTAACCGGACCTCACCCCCACCTCCGGGTCTCCCGCCTCACCTGTCTGGCCTTCGGGCTCCCAGGCTCCAGCTCAGGTCCTGGCCACCCCCGCCCCGTCTCTCCTCCAGGTGCGCCCCCTATGTCCTACTCCACCCCTCCCGGAGCGCCCCCGCCGCTTTCCGGATCCCCCTCCAGCTCTCGTCCTCTCTGTCTCCTTGGGATCCTGCGTTCTCTGGAGTCACCACCCCACCCGGCTCAACCGCGGCTCCCCGGACCTGCGCGCGACCCGGCGGGGCTGACTCCGAGTCGCGGCCTCCCGGTCCCTGCCGCCCGCCCGCGCCGCGGCTCCCGCTCCGCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCCTGCTCCTCACGCCACGGCCGTCGCCTCCCCGCCCCCTCCCGCCGCCCGGGCGCTCGCGGCTGGCCGTCCTCCCGTCTGTCTGTCCGTCCGTGGGTCCGCGGAGACCGACCTGGGCTAGGCAGGGGTCTAGGACGGCGGGAGGGGGGCGCACGAGGAGAGGAACGGGGCCGGGGACCGCCAGGGGGAGCCCGACCTGCACCGGAGCGCAGGGGGCGGGGCCGGAGCAAGCCCCCGCCCCTCCCGCGCCCCTCCCCGCCCCCGCCCTCCACCTCCCCTCCCGGGACTCACAACCCGGCCTTTGGAGTTTTTCTGATCCGCGGAACCCAGAGGTTCCTCCTGCCCACGCTCTACGAAAGTGGGGGGCTGGGAGGGATCTGTGACCCGCCCTCCCAGTCTGGGGCCGCCGCCCTGTCGCCCTGGCTCCCCTCCCCCAATATCCCCATCCGTATTTGGGTCAGTAATCCGCCTCTCGGCCGCGCCAGGTTTGCAGGTTCCCCGGGAAAGGAGGCGCTGAGAGGCGGCGCCACCAATCCCAGGGCTGGCGGAAATTAGGCGGTCCGAGGACTTCTCAACCTGCAGCTGCTTCTCTTTGGGGGATGCTCTTAATCTTAGTCTTGAATCCTTTGACAATCTGATGGAAGCTCAGACTCCCTCTCATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCTCGGCAGGAAAGGAGCACAGTTTAACACCTGCTACTGCTGTGGGGCAGCCTGGGCGGCTCCATCTTCTCAGCCATTCCGGCCCTACTTTAAAGAAGGTTTGAGCCGAGGCCACTTGCT
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Task1_train_15347
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This sequence variant lies in KCNJ11 (potassium inwardly rectifying channel subfamily J member 11) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Neonatal insulin-dependent diabetes mellitus
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AAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCGGAGGGGAGCCCTGTCAGCCCCAGGCTGTCCCTGCCGGTGTAGGCTCCACAGCACCAACCCTCCAGCGGGAACACCCTCTCTCATCAACTGCCCTCCCTGCTGGCCAGGCCCAGCCCTTAGCCAGGTGCTTTTTCAGGGACCAAGTAGAGCTGGGGCCTGACCACAGGCACTTCTTGGAGCCACAGACGCAAAGCAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATACCACATGGTCCGTGTGTACACACGCGTGTGGGGGGCCCGAGAGACCATGGCTCAGGACAGGGAATCTGGAGAGATGCTGAACTTGGGCTTGGCCTTGGCCATGGGCACGCTGCGCTTGCGCAGGGGCCCGCGGGCTGAGGCGAGGGTCAGAGCTTCCAGTAGGCTGTGGTCCTCATCAAGCTGGCGGGCCGTGCAGAGTGGTGTGGGCACTTTGACGGTGTTGCCAAACTTGGAGTAGTCCACAGAGTAACGTCCGTCCTCCTCAGCTACAATGGGCACAAAGCGCTGGCCCCACAGGATCTCATCGGCCAGGTAGGAGGTGCGGGCCTGGGTGGTGATGCCCGTGGTTTCCACCACGCCTTCCAGGATGACGATGATCTCGAGGTCCTGGTGGTGGTGCAGGTCGCTGGGTGCCAGGTCGTAGAGTGGGCTGTTGGCATCAATGACATGGTAGATGATCAGCGGGGCCACCAGGAAGATGCTGTTGCCACCCACGCCGTTCTCCATGGGGATGTCCACCTGGTGGAGGGGCACCACCTCGCCCTCGGGGCTGGTGGTCTTGCGTACCACCTGCATGTGGATGGTGGCGCTGATGATCATGCTCTTGCGGAGGTCACCCACACGTAGCATGAAGCAGAGGCGGCCGTGGCGCAGGGCGATCACCGCATGCTTGCTGAAGATGAGGGTCTCAGCCCTGCGGTGGGCTTGGGCAGTCTTCATGAAGATGCAGCCAAGCATGATGGCGTTGATCATGAGCCCCACGATGTTCTGCACGATGAGGATCAGGATGGCCAGTGGGCACTCCTCAGTCACCATGCGCCCCCCAAAGCCAATAGTCACTTGGACCTCAATGGAGAAAAGGAAGGCAGACGAGAAGGAGTGGATGCTGGTGACACAGGGCTCAGCAGTGCCCTCGCTGGGGGCCAGGTCACCGTGGGCGAAGGCGATGAGCCACCAGGCCATGGCGAAGAGCAGCCAGCTGCACAGGAAGGACATGGTGAAGATGAGCAATGTGTGTGGCCACTTGAGGTCCACCAGCGTGGTGAACACGTCCTGCAGGAAGCGGCCCTGCTCCCGGATGTTCTTGTGGGCCACGTTGCAGTTGCCTTTCTTGGACACAAAGCGGGCCCTCCGCTGGCGGGCACGGTACCTGGGCTTGGCAGGGTCCTCTGCCAGGCGTGTCAGCACGTATTCCTCGGGGATGATGCCCTTGCGGGACAGCATGGCTCCGGTGACCCCCAGGGAGGGGCTTCCCCCATCGGAGGCACCCCTCGGACGTGGCCTAGGGCCTCACTGCAGAGTCCTCTCGGTGGGCACCTTCTCACCCTGGGGCTGCACTCAGCCTGTGCTGGCCTCACTTCTGAGATAACTCCCCACCAGACTCTTCCTTACCTCCACCTGGGTCCCACTTCACTTCTTAATACCAGCCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACGTTGGGAGGCTGAGGAGGGCAGATCACTAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAAAACAAAACAAAAAAAACAGCCTCACCCTTGAGCCCACCTGCCTGGCGCCTAGGGAGCCCCCAACCCTGCCGGCTCTCCACCTGGCCCTGCGTCCTCCCCCAGCTTCCCCCACCAGCTGACCACCCCTGGGCCTCCCGCTAAGAGCCCTTCTCCCCGCCCAGCCTGCCTTCCCAGCCCAGCTCAGAACTTAACACCTCCGGATCTCTCCCACTAACCGGACCTCACCCCCACCTCCGGGTCTCCCGCCTCACCTGTCTGGCCTTCGGGCTCCCAGGCTCCAGCTCAGGTCCTGGCCACCCCCGCCCCGTCTCTCCTCCAGGTGCGCCCCCTATGTCCTACTCCACCCCTCCCGGAGCGCCCCCGCCGCTTTCCGGATCCCCCTCCAGCTCTCGTCCTCTCTGTCTCCTTGGGATCCTGCGTTCTCTGGAGTCACCACCCCACCCGGCTCAACCGCGGCTCCCCGGACCTGCGCGCGACCCGGCGGGGCTGACTCCGAGTCGCGGCCTCCCGGTCCCTGCCGCCCGCCCGCGCCGCGGCTCCCGCTCCGCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCCTGCTCCTCACGCCACGGCCGTCGCCTCCCCGCCCCCTCCCGCCGCCCGGGCGCTCGCGGCTGGCCGTCCTCCCGTCTGTCTGTCCGTCCGTGGGTCCGCGGAGACCGACCTGGGCTAGGCAGGGGTCTAGGACGGCGGGAGGGGGGCGCACGAGGAGAGGAACGGGGCCGGGGACCGCCAGGGGGAGCCCGACCTGCACCGGAGCGCAGGGGGCGGGGCCGGAGCAAGCCCCCGCCCCTCCCGCGCCCCTCCCCGCCCCCGCCCTCCACCTCCCCTCCCGGGACTCACAACCCGGCCTTTGGAGTTTTTCTGATCCGCGGAACCCAGAGGTTCCTCCTGCCCACGCTCTACGAAAGTGGGGGGCTGGGAGGGATCTGTGACCCGCCCTCCCAGTCTGGGGCCGCCGCCCTGTCGCCCTGGCTCCCCTCCCCCAATATCCCCATCCGTATTTGGGTCAGTAATCCGCCTCTCGGCCGCGCCAGGTTTGCAGGTTCCCCGGGAAAGGAGGCGCTGAGAGGCGGCGCCACCAATCCCAGGGCTGGCGGAAATTAGGCGGTCCGAGGACTTCTCAACCTGCAGCTGCTTCTCTTTGGGGGATGCTCTTAATCTTAGTCTTGAATCCTTTGACAATCTGATGGAAGCTCAGACTCCCTCTCATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCTCGGCAGGAAAGGAGCACAGTTTAACACCTGCTACTGCTGTGGGGCAGCCTGGGCGGCTCCATCTTCTCAGCCATTCCGGCCCTACTTTAAAGAAGGTTTGAGCCGAGGCCACTTGCTTTACACTTTCTCACACCTGTCACCTGACTTCTTCCACGTTAGGTCATGGGTGGTATTTAGGCCTGAACAGTGTGTTAGGGCTGCCTCGGGCACTGGGGGACCCAGGCTCTTGGTCCCGGCATGGTGGTGTTTCTGTTCAG
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AAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCGGAGGGGAGCCCTGTCAGCCCCAGGCTGTCCCTGCCGGTGTAGGCTCCACAGCACCAACCCTCCAGCGGGAACACCCTCTCTCATCAACTGCCCTCCCTGCTGGCCAGGCCCAGCCCTTAGCCAGGTGCTTTTTCAGGGACCAAGTAGAGCTGGGGCCTGACCACAGGCACTTCTTGGAGCCACAGACGCAAAGCAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATACCACATGGTCCGTGTGTACACACGCGTGTGGGGGGCCCGAGAGACCATGGCTCAGGACAGGGAATCTGGAGAGATGCTGAACTTGGGCTTGGCCTTGGCCATGGGCACGCTGCGCTTGCGCAGGGGCCCGCGGGCTGAGGCGAGGGTCAGAGCTTCCAGTAGGCTGTGGTCCTCATCAAGCTGGCGGGCCGTGCAGAGTGGTGTGGGCACTTTGACGGTGTTGCCAAACTTGGAGTAGTCCACAGAGTAACGTCCGTCCTCCTCAGCTACAATGGGCACAAAGCGCTGGCCCCACAGGATCTCATCGGCCAGGTAGGAGGTGCGGGCCTGGGTGGTGATGCCCGTGGTTTCCACCACGCCTTCCAGGATGACGATGATCTCGAGGTCCTGGTGGTGGTGCAGGTCGCTGGGTGCCAGGTCGTAGAGTGGGCTGTTGGCATCAATGACATGGTAGATGATCAGCGGGGCCACCAGGAAGATGCTGTTGCCACCCACGCCGTTCTCCATGGGGATGTCCACCTGGTGGAGGGGCACCACCTCGCCCTCGGGGCTGGTGGTCTTGCGTACCACCTGCATGTGGATGGTGGCGCTGATGATCATGCTCTTGCGGAGGTCACCCACACGTAGCATGAAGCAGAGGCGGCCGTGGCGCAGGGCGATCACCGCATGCTTGCTGAAGATGAGGGTCTCAGCCCTGCGGTGGGCTTGGGCAGTCTTCATGAAGATGCAGCCAAGCATGATGGCGTTGATCATGAGCCCCACGATGTTCTGCACGATGAGGATCAGGATGGCCAGTGGGCACTCCTCAGTCACCATGCGCCCCCCAAAGCCAATAGTCACTTGGACCTCAATGGAGAAAAGGAAGGCAGACGAGAAGGAGTGGATGCTGGTGACACAGGGCTCAGCAGTGCCCTCGCTGGGGGCCAGGTCACCGTGGGCGAAGGCGATGAGCCACCAGGCCATGGCGAAGAGCAGCCAGCTGCACAGGAAGGACATGGTGAAGATGAGCAATGTGTGTGGCCACTTGAGGTCCACCAGCGTGGTGAACACGTCCTGCAGGAAGCGGCCCTGCTCCCGGATGTTCTTGTGGGCCACGTTGCAGTTGCCTTTCTTGGACACAAAGCGGGCCCTCCGCTGGCGGGCACGGTACCTGGGCTTGGCAGGGTCCTCTGCCAGGCGTGTCAGCACGTATTCCTCGGGGATGATGCCCTTGCGGCACAGCATGGCTCCGGTGACCCCCAGGGAGGGGCTTCCCCCATCGGAGGCACCCCTCGGACGTGGCCTAGGGCCTCACTGCAGAGTCCTCTCGGTGGGCACCTTCTCACCCTGGGGCTGCACTCAGCCTGTGCTGGCCTCACTTCTGAGATAACTCCCCACCAGACTCTTCCTTACCTCCACCTGGGTCCCACTTCACTTCTTAATACCAGCCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACGTTGGGAGGCTGAGGAGGGCAGATCACTAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAAAACAAAACAAAAAAAACAGCCTCACCCTTGAGCCCACCTGCCTGGCGCCTAGGGAGCCCCCAACCCTGCCGGCTCTCCACCTGGCCCTGCGTCCTCCCCCAGCTTCCCCCACCAGCTGACCACCCCTGGGCCTCCCGCTAAGAGCCCTTCTCCCCGCCCAGCCTGCCTTCCCAGCCCAGCTCAGAACTTAACACCTCCGGATCTCTCCCACTAACCGGACCTCACCCCCACCTCCGGGTCTCCCGCCTCACCTGTCTGGCCTTCGGGCTCCCAGGCTCCAGCTCAGGTCCTGGCCACCCCCGCCCCGTCTCTCCTCCAGGTGCGCCCCCTATGTCCTACTCCACCCCTCCCGGAGCGCCCCCGCCGCTTTCCGGATCCCCCTCCAGCTCTCGTCCTCTCTGTCTCCTTGGGATCCTGCGTTCTCTGGAGTCACCACCCCACCCGGCTCAACCGCGGCTCCCCGGACCTGCGCGCGACCCGGCGGGGCTGACTCCGAGTCGCGGCCTCCCGGTCCCTGCCGCCCGCCCGCGCCGCGGCTCCCGCTCCGCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCCTGCTCCTCACGCCACGGCCGTCGCCTCCCCGCCCCCTCCCGCCGCCCGGGCGCTCGCGGCTGGCCGTCCTCCCGTCTGTCTGTCCGTCCGTGGGTCCGCGGAGACCGACCTGGGCTAGGCAGGGGTCTAGGACGGCGGGAGGGGGGCGCACGAGGAGAGGAACGGGGCCGGGGACCGCCAGGGGGAGCCCGACCTGCACCGGAGCGCAGGGGGCGGGGCCGGAGCAAGCCCCCGCCCCTCCCGCGCCCCTCCCCGCCCCCGCCCTCCACCTCCCCTCCCGGGACTCACAACCCGGCCTTTGGAGTTTTTCTGATCCGCGGAACCCAGAGGTTCCTCCTGCCCACGCTCTACGAAAGTGGGGGGCTGGGAGGGATCTGTGACCCGCCCTCCCAGTCTGGGGCCGCCGCCCTGTCGCCCTGGCTCCCCTCCCCCAATATCCCCATCCGTATTTGGGTCAGTAATCCGCCTCTCGGCCGCGCCAGGTTTGCAGGTTCCCCGGGAAAGGAGGCGCTGAGAGGCGGCGCCACCAATCCCAGGGCTGGCGGAAATTAGGCGGTCCGAGGACTTCTCAACCTGCAGCTGCTTCTCTTTGGGGGATGCTCTTAATCTTAGTCTTGAATCCTTTGACAATCTGATGGAAGCTCAGACTCCCTCTCATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCTCGGCAGGAAAGGAGCACAGTTTAACACCTGCTACTGCTGTGGGGCAGCCTGGGCGGCTCCATCTTCTCAGCCATTCCGGCCCTACTTTAAAGAAGGTTTGAGCCGAGGCCACTTGCTTTACACTTTCTCACACCTGTCACCTGACTTCTTCCACGTTAGGTCATGGGTGGTATTTAGGCCTGAACAGTGTGTTAGGGCTGCCTCGGGCACTGGGGGACCCAGGCTCTTGGTCCCGGCATGGTGGTGTTTCTGTTCAG
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Task1_train_15348
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This variant impacts the gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; not provided
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TTACTTTGAATTGGGTTCCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGCAGGGATGCATGTGCACAGAGTAAAGGTCATGTGAGCACACAGCCAGAAGGCAGCCCTCTGCAAGCCAAGGAGAGAGGCCTCAGGAGAAACCAAACCTGCCAACACCTTGATCCCAGACTTCAGCCTCCAGAACTGTGAGAAAAAAGTCTGTTTTAAAGCCACCCAGTCTGTGATATGTTGTTGTGGCAGCCTGGCTGACTAATAGAGGCCTCATTTCACAGGTAAGGAAGCAGGCTTTTGCTCACACAGCTTCTGCCTGATGTCAGAGCCAGGCTGGTTCTACTGAACCCACCATCCACCGCCAGCCCCTGCCCACCAGACTTAGGGCCTCTAGTAGGAAATAATCAAATCTATTTATTTACAAGTGATTTACAGTTAGAAAACCCAGGCAGGGGTATGGGCAGGGTCCGAATGTGGGATGGCACTTGGGCTCTGGCAGGTCACTTGTCTGCACGGACGAAGGAGGCGAAGACGCTGTCCTTCCGGCTGAGCAGCTTCTCTGGCTTATCGAACTCAAGGATGGCACCCCGCTTCAGGACGATCACCAGGTCTGCACTCAGGATGGTGTGCACTCGATGCTGGGCAGGGCAGGAGGGGGCGGGTCAGGATGGTGGGAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACC
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TTACTTTGAATTGGGTTCCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGCAGGGATGCATGTGCACAGAGTAAAGGTCATGTGAGCACACAGCCAGAAGGCAGCCCTCTGCAAGCCAAGGAGAGAGGCCTCAGGAGAAACCAAACCTGCCAACACCTTGATCCCAGACTTCAGCCTCCAGAACTGTGAGAAAAAAGTCTGTTTTAAAGCCACCCAGTCTGTGATATGTTGTTGTGGCAGCCTGGCTGACTAATAGAGGCCTCATTTCACAGGTAAGGAAGCAGGCTTTTGCTCACACAGCTTCTGCCTGATGTCAGAGCCAGGCTGGTTCTACTGAACCCACCATCCACCGCCAGCCCCTGCCCACCAGACTTAGGGCCTCTAGTAGGAAATAATCAAATCTATTTATTTACAAGTGATTTACAGTTAGAAAACCCAGGCAGGGGTATGGGCAGGGTCCGAATGTGGGATGGCACTTGGGCTCTGGCAGGTCACTTGTCTGCACGGACGAAGGAGGCGAAGACGCTGTCCTTCCGGCTGAGCAGCTTCTCTGGCTTATCGAACTCAAGGATGGCACCCCGCTTCAGGACGATCACCAGGTCTGCACTCAGGATGGTGTGCACTCGATGCTGGGCAGGGCAGGAGGGGGCGGGTCAGGATGGTGGGAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAGTGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACC
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Task1_train_15349
|
Gene ABCC8 (ATP binding cassette subfamily C member 8), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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TCCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGCAGGGATGCATGTGCACAGAGTAAAGGTCATGTGAGCACACAGCCAGAAGGCAGCCCTCTGCAAGCCAAGGAGAGAGGCCTCAGGAGAAACCAAACCTGCCAACACCTTGATCCCAGACTTCAGCCTCCAGAACTGTGAGAAAAAAGTCTGTTTTAAAGCCACCCAGTCTGTGATATGTTGTTGTGGCAGCCTGGCTGACTAATAGAGGCCTCATTTCACAGGTAAGGAAGCAGGCTTTTGCTCACACAGCTTCTGCCTGATGTCAGAGCCAGGCTGGTTCTACTGAACCCACCATCCACCGCCAGCCCCTGCCCACCAGACTTAGGGCCTCTAGTAGGAAATAATCAAATCTATTTATTTACAAGTGATTTACAGTTAGAAAACCCAGGCAGGGGTATGGGCAGGGTCCGAATGTGGGATGGCACTTGGGCTCTGGCAGGTCACTTGTCTGCACGGACGAAGGAGGCGAAGACGCTGTCCTTCCGGCTGAGCAGCTTCTCTGGCTTATCGAACTCAAGGATGGCACCCCGCTTCAGGACGATCACCAGGTCTGCACTCAGGATGGTGTGCACTCGATGCTGGGCAGGGCAGGAGGGGGCGGGTCAGGATGGTGGGAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTT
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TCCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGCAGGGATGCATGTGCACAGAGTAAAGGTCATGTGAGCACACAGCCAGAAGGCAGCCCTCTGCAAGCCAAGGAGAGAGGCCTCAGGAGAAACCAAACCTGCCAACACCTTGATCCCAGACTTCAGCCTCCAGAACTGTGAGAAAAAAGTCTGTTTTAAAGCCACCCAGTCTGTGATATGTTGTTGTGGCAGCCTGGCTGACTAATAGAGGCCTCATTTCACAGGTAAGGAAGCAGGCTTTTGCTCACACAGCTTCTGCCTGATGTCAGAGCCAGGCTGGTTCTACTGAACCCACCATCCACCGCCAGCCCCTGCCCACCAGACTTAGGGCCTCTAGTAGGAAATAATCAAATCTATTTATTTACAAGTGATTTACAGTTAGAAAACCCAGGCAGGGGTATGGGCAGGGTCCGAATGTGGGATGGCACTTGGGCTCTGGCAGGTCACTTGTCTGCACGGACGAAGGAGGCGAAGACGCTGTCCTTCCGGCTGAGCAGCTTCTCTGGCTTATCGAACTCAAGGATGGCACCCCGCTTCAGGACGATCACCAGGTCTGCACTCAGGATGGTGTGCACTCGATGCTGGGCAGGGCAGGAGGGGGCGGGTCAGGATGGTGGGAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTTGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTT
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Task1_train_15350
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This is a variant in ABCC8 (ATP binding cassette subfamily C member 8), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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CCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGCAGGGATGCATGTGCACAGAGTAAAGGTCATGTGAGCACACAGCCAGAAGGCAGCCCTCTGCAAGCCAAGGAGAGAGGCCTCAGGAGAAACCAAACCTGCCAACACCTTGATCCCAGACTTCAGCCTCCAGAACTGTGAGAAAAAAGTCTGTTTTAAAGCCACCCAGTCTGTGATATGTTGTTGTGGCAGCCTGGCTGACTAATAGAGGCCTCATTTCACAGGTAAGGAAGCAGGCTTTTGCTCACACAGCTTCTGCCTGATGTCAGAGCCAGGCTGGTTCTACTGAACCCACCATCCACCGCCAGCCCCTGCCCACCAGACTTAGGGCCTCTAGTAGGAAATAATCAAATCTATTTATTTACAAGTGATTTACAGTTAGAAAACCCAGGCAGGGGTATGGGCAGGGTCCGAATGTGGGATGGCACTTGGGCTCTGGCAGGTCACTTGTCTGCACGGACGAAGGAGGCGAAGACGCTGTCCTTCCGGCTGAGCAGCTTCTCTGGCTTATCGAACTCAAGGATGGCACCCCGCTTCAGGACGATCACCAGGTCTGCACTCAGGATGGTGTGCACTCGATGCTGGGCAGGGCAGGAGGGGGCGGGTCAGGATGGTGGGAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTC
|
CCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGCAGGGATGCATGTGCACAGAGTAAAGGTCATGTGAGCACACAGCCAGAAGGCAGCCCTCTGCAAGCCAAGGAGAGAGGCCTCAGGAGAAACCAAACCTGCCAACACCTTGATCCCAGACTTCAGCCTCCAGAACTGTGAGAAAAAAGTCTGTTTTAAAGCCACCCAGTCTGTGATATGTTGTTGTGGCAGCCTGGCTGACTAATAGAGGCCTCATTTCACAGGTAAGGAAGCAGGCTTTTGCTCACACAGCTTCTGCCTGATGTCAGAGCCAGGCTGGTTCTACTGAACCCACCATCCACCGCCAGCCCCTGCCCACCAGACTTAGGGCCTCTAGTAGGAAATAATCAAATCTATTTATTTACAAGTGATTTACAGTTAGAAAACCCAGGCAGGGGTATGGGCAGGGTCCGAATGTGGGATGGCACTTGGGCTCTGGCAGGTCACTTGTCTGCACGGACGAAGGAGGCGAAGACGCTGTCCTTCCGGCTGAGCAGCTTCTCTGGCTTATCGAACTCAAGGATGGCACCCCGCTTCAGGACGATCACCAGGTCTGCACTCAGGATGGTGTGCACTCGATGCTGGGCAGGGCAGGAGGGGGCGGGTCAGGATGGTGGGAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCCTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTC
|
Task1_train_15351
|
With a mutation on Chromosome 11 in gene ABCC8 (ATP binding cassette subfamily C member 8), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; not provided
|
CGATGCTGGGCAGGGCAGGAGGGGGCGGGTCAGGATGGTGGGAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCT
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CGATGCTGGGCAGGGCAGGAGGGGGCGGGTCAGGATGGTGGGAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACGGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCT
|
Task1_train_15352
|
Chromosome 11 houses a mutation in gene ABCC8 (ATP binding cassette subfamily C member 8). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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GAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGC
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GAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGACGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGC
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Task1_train_15353
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A sequence alteration has been identified in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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AATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCT
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AATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCAGGCTCCCTGCATGCCCTCCAGGCCCCTTGCCCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGTGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCT
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Task1_train_15354
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With a mutation on Chromosome 11 in gene ABCC8 (ATP binding cassette subfamily C member 8), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Type 2 diabetes mellitus
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CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTC
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CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACTGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTC
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Task1_train_15355
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A change on Chromosome 11 affects gene ABCC8 (ATP binding cassette subfamily C member 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Familial hyperinsulinism
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CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTC
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CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACTGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTC
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Task1_train_15356
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A genetic alteration is present in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTC
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CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACTGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTC
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Task1_train_15357
|
A change on Chromosome 11 affects gene ABCC8 (ATP binding cassette subfamily C member 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Diabetes mellitus, permanent neonatal 3
|
GGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGT
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GGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGACGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGT
|
Task1_train_15358
|
A variant on Chromosome 11 in gene ABCC8 (ATP binding cassette subfamily C member 8) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; not provided
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GGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTC
|
GGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGAGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTC
|
Task1_train_15359
|
This variant impacts the gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Type 2 diabetes mellitus
|
GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCAGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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Task1_train_15360
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Here is a genetic alteration in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Diabetes mellitus, transient neonatal, 2
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GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCAGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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Task1_train_15361
|
This alteration in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Diabetes mellitus, permanent neonatal 3
|
GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCAGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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Task1_train_15362
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A mutation in ABCC8 (ATP binding cassette subfamily C member 8), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCAGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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Task1_train_15363
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This variant lies on Chromosome 11 and affects the gene ABCC8 (ATP binding cassette subfamily C member 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Leucine-induced hypoglycemia
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GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCAGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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Task1_train_15364
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A variant was discovered in gene ABCC8 (ATP binding cassette subfamily C member 8), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Type 2 diabetes mellitus
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GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCAGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCA
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Task1_train_15365
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The gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; not provided
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TGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCATGC
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TGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGACGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCATGC
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Task1_train_15366
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A genetic alteration is present in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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TGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCATGCACACGTCACCAGACACA
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TGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGAAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCATGCACACGTCACCAGACACA
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Task1_train_15367
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This is a variant in ABCC8 (ATP binding cassette subfamily C member 8), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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TCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCATGCACACGTCACCAGACACACACAAGGGC
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TCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACTTGAGCCTCAGGACTACTTCGTGCAAATTTCTCCCTAGCATCCCACTAAACCCTTTCCAAGACCATGGTCCCATGGAGGGGCCCAGGACCAACCGTGGCCATGTCAATGGAAGCCGTGGCCTCGTCCATGATGAAGATGCTGGTCTTCCTCACGAAGGCCCGGGCCAGGCAGAACAGCTGCCTCTGTCCCTGGCTGAAATTCTCCCCGCCTTCTGTGATGATGGCATCTGAAAACAGCCCGGGGAGATGAAGTAGGACTGAGTTAATCTTGTGCTGTGAGTGGAGCAGATGGGATGGCTTGGGGGGCTGTTGGAAAATGTGTGCATGGGGGCAAATAGGTGGGTGTGTGTCCAAGAGCACAGGCGTGTGCAGGGCTGGTGCACCTGACACAACAATGTGGAGGCCGTCTGCAAGGACTGCAACGAGAAGGGCACCCCTGGAGGTGTGTGCTGCTGTGGCCCTGGGCAGTTCTGGGAGGGGGCGTGTGCACTGAGGGGTGCACTGAGTGTGTATGTAGGGCCTTGGTAGGGTGATTCATTGAAACCAAGGCTTGGCCACCCCCAATGCTCCAGGAGCTGCAGCAAATATACCAAGGCTTTGCCAATCACCGGTGGCCTTGATGAGTGACCCGTGTCTATGATTGCCCAGTCCATCTTCTCCTCCCCTAAGGCAGAACTGGGCATGCAGGTGGATGGGGCAGGGCAGGGCTGAAGATGCCCCCTTGGCATGGGGGACTCGCAATCTCTGTCTCACAAGGATCCCTGACTGTACCCGCTGTACCCTGCAGGAGGAGCCAGACCCTGAACTGACCAGTTGTGTGACCTGGGGCAAGACACCTGACCTCTCTGGGCCCCCGTATAGTGAGAAGTAGGACTAAATGGTCCTGCCAGGCTTCAGACTCCAAACTTGGGGCAAACCTGAGACACGGGCTTCTGTCTGCCATCCTTACAGGGTCCTTGAGTGCCCAACCAACCCAGCTGCATAGCCAGGAGTAGTTACCGAGGCCTCCTGGCAGTGCCTTCACCACCAGCTTCAGCTGGGCGATTTCCAGGGCCTCCCACAGTGTGCTATCTGAGCACTTCCTCTCAGGGTCCAGGTTAAATCTGGAAGTGGCACAGAAAGCCCCAGTAGGGAGGGAGCAGGGTCCTGCCTGCATCCCCAGGCGGCAAAGAGGGCAGTGAGCGAGAGCAGACTGAGTTGGAGGTCTGGCTGGGAGAAGCACCGAGGTGGTGGCAGTGGGTGGGGGACAGCATCTTAGACCCATGGGTGGGGGATCCCCTTCCAGAGGCTGCCTGGGCCTGATGGGATGGAGAAGGGCATGAGCAGGAAACACCTCTGGGATCCTGGTCTCCCCCAACCCCCTCCTCTTTGTGCTCCAGATCTGATGGAACTGAGCCGGCCTGGGGCTGGGTGGGCCTGAGGGGTGGTGGGGCTCACCGGATGGTGCCGCTGAAGAGGACGGGGTCCTGCAGGATGATGGAGAGGCGTGAGCGCAGGGTGTGCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCTCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGGTTTTCTGACTAGTTTCTCTTTGGACACCACAGGTTTGGGCTTGTTTCCTGCAGTGGGTCCAGAGAGGGCTTACACAGGGACCGGCACGCAAGTGCAGGCATGGATGTCCATTTGCCTGGGCCTTGGTGTGGGTCTGGGTGTGCCGGGTACTTGGCTGAAGGAGAGCTGGGGGGCAGTGGTGTGTCTCTATGGGCATGGGTGTGGCAGGAGGACACAGGGGCAGCTGAGAGTGGTATGCATGGATGTGTCTGTGTGCCCCGCCCTACAATGGAGCCACCTCTGATCCCGTTGCTTCCTGGCACTTGGGTACCAACAGAAATTACAATACGGAGACAGATAGTGACATAGAAGGATGAGAGAGGCAGGGACAGAGGTACATCCCAAGGTCAGAGAATGACATGGACAGCCACAGCAAAGTGAGACAGAGACAAAGAGACAGAGTGGGAAACGAGAGGAGAGCTGGGCCAGGGCCATAGGCAGGGGCTCACCCTCAATACAAGGGTGGCCTCGCTGTCTGCCCCCAGGTCCCTGCCCTGAAGCTCGGGGCAGTGCCCTAGGGAAAGCCCCTGACCATTCGCAGAGAGGGAGGCCCTGACAAAGCCCGTGTGAGCTGGGGGAGTCCAGAGTGTCGGTCTCCTTGGTGGATGAGTGAGAAGACAAGGCCTGAGGGCAGCACTGGGGGAAGGCAATAGAAGGAGAGGAAAGATGGGCCCCCACAGGCCCAGGGCAGGAGACTGCGATGTCTGAATAGTGAGAGGCCTCGGCCCTGGAGGGCCACGAGGTGACTGCGAAGCCATCCAGCTCCGTGCATGCCCCATCCCCTGCTCACGCCTGTCCTGCAGCATTGGGTTGGGCCCGTGCTCTGACCTTCTGTCCAGGGGCGATGAGGGCATTGACGTGCTTCAGCACCGGCTTCAGGGAGCTGTCGTAGCGCACGCTCAGGTTCTGGATCTGGATCTTCCCTTGGTCTGGCCAGTTCTTTGGGATCAGCGATGGTGCTGGGGGCCGGGCTGGGCTCAGCCACCAGGCATGGGCCACAGCTAGTATCCGAAAGTGCCACCCCATCCCCAGGCTCCCTTGTGGCCCCCAACCCAGACACACTCCTCCTTGGACTCTTCCCCACCCCTCTCCCTGAGCCTCTCACCCAGGAGCCCCTCGTAGCTCTCTGCCTCGGTTTTCAGGAGCCCATGGATGCGCTTCACAGCCCCCAGCTGGAGCTCCATGTCTGCCAGGTTCCTCACCATCCAGTTGAGGTAGTTGGAGACCTGTGGGGAGCAAGCCAGTGGCGCACACTCCATGGTCGCTTAGTTCTGTCCTCAGCCACCAGAATGGCTCTTCTTAAGGCTGGAGAGGGGCCAGGGCCCCAGATTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGGAGGCACAGGGAGGGTCAGTCATGTGGCTCCCCAACCTCCACCTGTCTGGGGCCTGGGCCCTGGGGCCTGCTGGTCAGCCTTCCTGCCCGCACTGTCCCTCTGGCATCAGATGCAAATGAAATTGGGGTAAGGCCTGGGAGTGTCTCATGTCTCCAGTGACGAAGGTGCTCCGGGAGTGCTGGTGTCTGACCCCTCCTCTGCCCTAGCCCACTGCCGCTCACCATTAGGGCGTAGGTAAGGCCCAGGCCCACCAGGCCAGCAGAGAGCTCCCTGTGCAGGGAGTTGGAGATGGAGGTCACCGCTGCGATGAGCACCACACATGCACCGATGTACTCCTGGGGAGGGAGAGGAGCTGACCTGGGCGCTCAGGGGTTAGAGCCACAGGCCCCTGTTCTACCTCACTCCTTTTCGGGGCAGAGAGCAGCTCAGCCAGGCCTCCACTCCAGCCCTGCAACTCATGCACACGTCACCAGACACACACAAGGGC
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Task1_train_15368
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Here is a variant affecting ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Type 2 diabetes mellitus
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCTGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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Task1_train_15369
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This sequence variant lies in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Diabetes mellitus, transient neonatal, 2
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCTGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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Task1_train_15370
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A genetic alteration is present in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCTGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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Task1_train_15371
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A sequence alteration has been identified in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Leucine-induced hypoglycemia
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCTGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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Task1_train_15372
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This mutation is located in gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Diabetes mellitus, permanent neonatal 3
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCTGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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Task1_train_15373
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An alteration has been detected in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Familial hyperinsulinism
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCTGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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Task1_train_15374
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This variant affects the gene ABCC8 (ATP binding cassette subfamily C member 8) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Type 2 diabetes mellitus
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCTGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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Task1_train_15375
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Located on Chromosome 11, this mutation impacts ABCC8 (ATP binding cassette subfamily C member 8). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGTGTGGAAGACCTCACTGGGTAGCAGTGGCTCTGGCTGACCACAGGTTTGGCCTGATCTGAGGCTGTTTACAGGAAGCTGGGATCTGCACACAAGGGGCTGTGGCCCACTCTAGAAGAGTCACCATCTCTCTACCCCAGGGCCCTCTGAGACACCAATTGAGAGAGGGAAATCACCAAAACTTAGAGCAAAGGCTAGGCTCAGTAATGTCGAGGGACCTGGAAGTTGAAGGAACGGGAGAAGTTCAGGCTTGAGAAGAGGAGGCTGGGAGGAGACTCTAGAGTCATAATCCAGTCCCCAGCAAGCTTCTTTGTGGAAGACACAGCATAGGCTTGTCCAGGGGCAAGGGATGTCCAGGGAGCAGCGCCAAGGCCAGGGCAGAGCTTTGCTCTGCTCTTCTTTACTTAGACAAGATCCCTAAGAGGTGGATTTCCACTGGCCCTAGGTGCTCCAGGGTGGGCAGAGGGGCCTGGATACCTCTCCAGGGCTGAAGCTGGACTTCAGGGGTTGGGGGGAGGAGATGTAAGCCTCTCTGGCCCTTGGCTGGTCCTTGTGCCCTATGGTTACTCCTGGACACAGTGCTTGGTGTCTCATGGTTACTGTCATACTTCGTGCAGCTGTGCCACCCTAAAAATAACCTATTATCACTCTCTGGATGAAGATGAGAAAAGAGCCCAACTTTGTGTGTCAGGGGTCTCTGGCCTGCCTGACTGGAAGAGAGATGCCTCTGGAGATCAGACAGACTCTTGGGGAGTGGGAAACAACAGCTTCCCTCATTCCCCAGGCAACCTCAGATGCTCCTGTCCACCCCAACATCACCACTCAGGGTAGTGAGACGATGGCAGGGGCACTGAAGTTTTCAGGAATTCCTCAGCCTGGTGAACTCCTGCCCCTCCTTTGAGTCCTAGTTCTGATGACACCTCTGGTACAAAAACCTTCCCGGACTGTCTCTCTTCTATGCTCCCACAGCCCTTGAATCCGCTTTTTTCAGAATACTTGTCACGTGGATTTATCCTGGCCTGCTCAAAGTCTGGGCTGTAAACGCCTGCAGGGCAGCGGCTTATTTGACTCATCTTTTTAGTGCCTGGCATGGGGCTTAGCACATAGTCGGGGCTTAGTAAATGTTTGTTGCATGAACAAATAGGTTCAAGTCTGGGCTTTGTGGCACCTTACACAGAGAGGTTATAGAACGTCTCTGTGCCTCAGTTTCCTTGTCTGTGCAATGGAAATGACCATTCTCAGCACCGAGGGTTGCAGTGCAGAATGAGTGGGATTGGCCTGTACAGTACTCAGCATAGTGTTTGGCACACAGGGGCTCCTTAATAAAAGAAGGGCTTAGGGTGGCCCGCACCTAAGGCCCTTTCTAGCGTTGATACATGAAGACTTGTCCCAGCTTTGTCTCTTTTCATGCTCTGCCTCACAGAGGTCCTGGGCTTGTCTACAGAGCTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCTGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCTGCTACCGCTGTGTGGGTGAATGGCCTTACCTCTCTAGGCCTCAGCTTCTTACCCCGTGAAGGGGGAAGACAATGCCACCAGCCCATTGAGCTTTTGTGAGCACTGAATGAGATCGTTTATGTACAATGCTTAGACACAGCCTGATGTGGGGCACAATTACTGCTGTCCTGGGCATTGTCAACCCCAGGTCGCCATCTGTCCCTGTACTTCTGCTGCACAGCCTGGAGCTGAGCTAAGGCTGGGCAGGCAGTGCTAGTTCCATTTTACAGGTGAACAATCTGAACCTTGAGACAGCTGGCCAAAGGAACAGAAGACCAAACTCAAAGCGTTCAACCCCGTCTTCCGCTTACCCCATCAAGGAGCTCTTTAGACCCTGGCCAGTGATGTGCTGAAATGATAGGTTTCGTCTCGGGGTAAGGCCAGAGGTTTCCATGGCAACAGAATTGCCTCCTGCTCCCCAAAGCTGCACCTCGACAAGCACATCAGTGCCAGGGAGGCCAGTTTGGGATGCAGGAAGTTGATTTCCCTGATAAACCATCTCCAGGGTCAGACTGGGTGCCACAGAGACTGGGCTGTTTCTCTGGCAGAAGAAATGAACTTTGTAGAACAGCTTGTGCAGCACTTTGAATTTTTTGAGTGTCAAAAAGCTATGTTGTTCGTGTGGGTGTCGGGCCATTCTGGATCATCCAAGCAAAAAGCCATTTATACAAATGTTGATCCTTTGGGGCAGGTAATTGTGTCCAAAATGCATCTAAATTTTATTATTGCTAATAAGTATCTCAACTCTAGTTTCTAGCCAACTATGTGCACTTGGGAAAGGTACTTAACCTTTCTGACCACAACCTGCAGTCAGAAATATATTTTATCTCACAAATCAGTACTCACACACCTCCATGACCAACACAAAGGTTTCATGAAGCAAAGCTTGCTTTACTCTATGAATACAGTCTGATGTTTTTTTCATTTTTAAAAAAATGCTGGTTGTGATCCATGATATTGATTTCATGACCCACTGATGGGCTGTAATTGGCAGTTTGAGAAACACTGGCCTAGACGTTCTTTAAATTTTTTCCTACAATTTTTTGAATCTATGAGTTTCTATGAATCTGGGAGAATCACTCCCAGAAAGAACTCCCTAGAGAACATTCTTAGAAAATTTTGAGGAGGAAAGAGGCGTGCATGGATCCAAAGCTCATGAGGGCAAATGTGATCCATGAGAATGGCTGTGAGAGGCTCCCTCAAGTCAAGGCTTACAGCTACACTCTGGACTCACGTGGGCTGGGAGGTGTTATCATAACACTGCTTGAATCAGGTGCCCGCCGATTTCATGCATCAGCAATCAGCCTGACCACTAGAATGATGCAACCCTCCTGGGAAGCATGTTGGCAAAATGAATGAAGGGCATAAAATGTGCATTTATCATGACCTAGCAATTCCAGTCCTGACCATATCGCCCAAGGAAATAATTCAGATGTCAACCTCAGTGTGTGCGTGTGTTGGCAGACTATTATATTAGGGCGGTGGAATAAGATGTGGATATTTCTATTTCCTTCATTTCTGTTTTTTGTTTTTATTTTTTGGAGGGAACACGACCCTATTACTCTCATAACGATGAGTCTAGCAAGTACACCAAACTGCACATTGCAAAGCACCTCCCACCCCTCACCCCTGAGGCCATCACCTGGACGCCACCCGGAAGTACTTCTGGATGAAGTAGCACACGATGGCCAGGGGCAAGAGGGCCACGAGGAACACAGGTGTGACATAGGAGATGACGGCCAGGGCTGAGACACAGAGCAGGGTGGAGCGGCTCAGGCACTCCAGCGTGGATGGGATGTGCTGAGGGAGACGAGGGGGAGAGAGTGAGGTGAATTTTGGTATTGACTG
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Task1_train_15376
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The variant affects gene ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Diabetes mellitus, transient neonatal, 2
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCGTTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCATTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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Task1_train_15377
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A genetic alteration is present in ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCGTTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCATTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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Task1_train_15378
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Consider a variant on Chromosome 11 in gene ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977). Determine its clinical classification and disease relevance.
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Pathogenic; Leucine-induced hypoglycemia
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCGTTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCATTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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Task1_train_15379
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Mutation context: Chromosome 11, Gene ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Diabetes mellitus, permanent neonatal 3
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCGTTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCATTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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Task1_train_15380
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A mutation on Chromosome 11 affecting ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Type 2 diabetes mellitus
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCGTTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCATTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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Task1_train_15381
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The gene ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Permanent neonatal diabetes mellitus
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCGTTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTCCAGCCCTCACAGTTGTCTCCCTGGACAAGGCCCCCTCATAGTTTATGCCGCACAGTTTGGATTTGAACCGGGCTGGGCCTCTTGAACTGGGTGAGCTCTGTCTCCCTAATCAGATTCTAAATCTTTGAGGCCAAGGACTGGTTCTTAGAATTCTTCAGTGTCAGTCAAGGCACCTGACACAACAGAACTTGACATGAAGTAGTGTAAGGATTGCGAATACGTTCTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGGTTTGTCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATAACAGGCGTGAGCCACCGCGCCTGGCCTAGTTTTATCTCATGTTTGATGGCTAGTGGTTACCTGGAGTGCTGTGTTGAGAAGGATTCTGAGGATGAGTTAAGTTCCATGGGAAATAATGCTGTGAACAATTAGCAATGTCTGCACTGGGCATAAGATGGGAAGTGGCAGCACACATTCTGTTATCAGCCATTCTTATAGTCGGGCTGCATAAGTGTTGAGGGGTTGGGCTGTCCCACAGACAGGCAGCCTATAACTACAGCTTGCCTCTCCTCATTGGCTACTGCAGAGCTCCATCTGAAGTCTGCAATGGGTCATTTGTGCTATCCTTGCCTGCCTCAGTTTCCCTATCACTAGGATGATAAGGCAATATCTCTGGCAGGAGGGATTTACTCCTGGAGAGGGAGATTGTTGGATGATGGTGGGGTTGCGGGGAGGTGGAGGTGGGCAGTTAGGCCTGGGAGGCAGCCAGAGACCAGGACCCCAAGGGAACTTGCACTCACCAAGAAGACAACGTTGGCGTGCTGGTAGAGGGCTCGGGCCACACTGATTCGCTGGCGTTGACCACCAGACAGGTTGATGCCCTGTCACCAAAGAGGAGGAACACATCATGCCCTCAGCCATTCAGGAGACACTGTCCTGTACCCTACTGGACTATGAGCTCTTTGGGATGGAGGCCTGGCTCTATCCACTTCTTTGCCTGCTTCTCACCTTGCATAGAGAAGGAACTTGCACGTGTTTACTGAATTCATTCAGAAGAGGGCAGCATGAGCCCCAAGTCTTTAAAGATTCATTGTGTAGGCGCTAGGGACCATCTGACCAGTACAAACAAAGACAGAGGCAGCAGGGATTAAAATCACACAAAAGGAGGACAGTCACAGGAGAATCCTGTTCGTCTAAGCTTGTGGAGGGGACCCCATCTGGAGGATGAACAGGAACAATACAACCCCAGGCTGAGCACAGTGCTGTGTGGGCTCTCAGTGTATACCTGGGGTGCAAATGAAGAAGATCCCCAGCCTGGGAGGGCACTAAGCTGACCTTGCCCTCCAAGCAGGACTGAAAACCTGTCAAAGGACATCATCAAGAACAACATGTTTGACCTTACTGCAGGCAACTCTTCAGCCTTCAATGTCTCCTATTTCCTAGTTACCCATTGTCCTGAGTAGTGTCTCAGGGCATGGTAGGTTGGGGGTCCTGGCTTTGAAAAAACCCCTCAGAGGCTGCTACTAACCCATTCCCCAATCTGGGTCTGGTCTCCATGGGGCAGGATGTCGATGTCTGGCTGCAGAGAGCAGGCTTCAATGACCATCTTGTACCTGGCGTGGGTAGAGGCAGGGGATGCAGCTGGTCAGCCTGGTCAGAGTTGGCCCGAGCACTTGCAGAGGGTCATTAGTCTCTGGGTAGCTATGCCCAGGGTGAGCAATGGCTTTAATAGGCCTCCCGCTTGGGTGCAAGCAAACACCGTGTGAGCTTGAAAAGAGCTGAGGTCAGCACTTCACACAGCGTTTGGGCAGGTTAAATACTAGAAGGATGGAATTGGTTGGGAACAAATATGCAGAGTAAGTGATGAAAGGGCGCTCATGATCTCTGTGCAGTGGGAAAAGCTGCAGCCGGAACCCGTGCTTGGGGCACTGCAGGGAAAACCACTGCTGGTTGGTTTAGGCAGTAATGATGATGGCTGGTCAAATATTTGCCCAGCCTGTTCCTCTCATACTTCCCCAGCCAGCCCTTAGCCTGGGCAGGTGCCAGCCAGAGTTCATGGAGGCATCAGAGTATGTTGGTGACAAACATGTACTTAGGTGTTAGGCAGCTTTGGATTTGAGACCCATCTTGGTCACTTACTGGCTGGGTGGCCTTGGGACCTTTCTGAAACTTGGTTCTTCATCTGTAGAGTGGGAATAACAATAATATCTACCTACTGAGGTTGTTGTAAGCATGAGAGGAAATTCCGTGTACAAAGAGCTCGGCACTGTGCCTGGTATGTAGTAAGAGCGCAGTCGATGCTAGCCCTAACTATTATCATTGGAGGGAAAATAGTGCAGGAGCCAGGCGAATGGAGACTCACAGAGAGAGCTAGCTAGCCCTCCCACCAGCTAGAGAAAAGGCAGCGGGGCTCTCTCCCTTCCCTCCATTCCTGCCCTCTCCCCTATGGGAGCTGGATTGCCCCAATGCTCAGGCACACCTGGCCCCTCTCCAGGTGCACCATATGGAGAGGCTGGAGTGCAGGTAAGCACCTGGGGAGTGAGATGGCTGGGTGTGGGTGATCGATGGAGGGGCCCGGAACTGGGGCAGGCTGGCCAGAGACAGTTCCTCCCCTCCACATCCTGCCTCCCTCCGACAGGCTTTTACCGTTGTTTGTTGAAGGGACTCTCAAAGATGATGTTCTCCTCCACAGTGGCATTTAGCAGCCATGGTTTCTGCGAAGCATAGGCCACGGGGCCTCTCTTCCTGGAAAAAGCAGGGCGGGAGTAGGGGGTGCGGAAGGCATTCTCAGGGGCTTGTTCTCAGAGGCAGTTGTCAAGCTGATGGCTCAGATGGAGGCAAGGGGATGGGGAGGTGCAGTTGGTAGAAATCTGCTTAGTGTGGCCTCTGGTGGCCTTGCCTTCCCCCAGGCAGGTTTGAGAGGTCTGGGTCTCAACTGACTGGGGCAGCAGGACCTCATCCCCTCCCTGCCCTACACCCAGCCTGCCCCAGCCCTGCAGTCTGTTGTTCCTTAGTCAGGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCTGGGGTCTGGGGGCTGCCCAGCAGGGTGATGTGGCTCCCTTGGGCCTGAGAGCACCCTGGAGGGAGTTGACCCTGGGGGGCAATGTTCCCAGGACGCAGTACCTGATATCCAAGTCGGTCGCTGTCTCCCGCTCTGGGCTGCAGCAGGGGAGGAAAGGCATACTGAGCTCTCATGGGAGTGAACCATATCCTCCAGGAAGATCCTGAGCTCCCTCCAACCCAACATGAGCATGCCTTTACAA
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Task1_train_15382
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With a mutation on Chromosome 11 in gene ABCC8 (ATP binding cassette subfamily C member 8), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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TCCTCCCTCCAAAGGCTGGAGAGGCAGTCGGAATAAGGCAATATGATCTCAAACCGAATACCTGGGCCTTCCCAGTCAGGCTATGTTGAAAAATCTCCCAAATAAAATGGCGAATGGAGGCAAAGACCCCTCTGCCCCCAAAGACATCACAGTCCCTGATGGGAGGTGATGGGAAACCCAAGGGGCTCATCTGCTAGCCCACGACCCCACTGAGGAGGGAAATTTGCCATCTTTTGGATACACCATTCAGGGACATCTTGGAAATGCAGGAAACGGGGGTGCATGTTGATATTCAGACATTGGGCCCAAAGTCTTTCTCCCTGCTCAGTTCTGTACTCATGCTTATGAAAAACCTGACACCTTCAATAATTTTCCCCTAGAAATGATTGGTAGGGAAAGCTTGCCCTTCTGCTGATTGGCTGCAACTTTTATTCCTAAATGAATACTCCAAAGCCCAGAGATCCCTTTTTCCCTTGGCTACCAGAGGGCACAGAGCCAGGTTTTATGTTGATGGCTGTAGTTGTCCTCTGCCCAGGTTGCTGAACATCTTTTTACCCTCTTCATTTCTCAGTTCCTATTTTCTTACCTTTTTAAAGGGTTTTATTTTACATGCATCTTTTTTTATTATACTTCAAGTTCTGGGATATACGTGCAGAACGTGCAGGTTTGTTACATAGGTATACACATGCCATGGTGGTTTGCTGCACCCATCAACCCTTCATCTACATTAAGTATTTCTCCTAATGCTATCCCTCCCCTTGCCCCCCACCCCCAGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTCATTGTTCAACTCCCACTTATGAGTGAGAACATGTGGTATTTGCTTTTCTGTTCCTGTGTGAGTTTGCTGAGAATGATAGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACACGAACTCAACCTTTTTTATGTCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTTATCCAGTCTATCATTGATGGGCATTTGGGTTGTTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAAACATACGTCTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTTGGGTATATACCCAGTAATGGAATTGCTGGGTCAAATGGTATTTCTGGTTCTAGATCCTTGAGGAATCACCGCACTGTCTTCCACAATGGTTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCGTTCCTATTTCTCCACATCCTCTCCAGCATTTGTTGTTTCCTGACTTTTTAACGATCACCATTCTAACGGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTTTACATGAATCTTTCATCAACTAGTTTCAAGTGCTTCTTGGAAGTAGGTGGGTATAAATAACAGATTCGTGATTGACTGAGCCTGGGGTTCTGGCTCTTTAATTAAGACAGTGATCTTTGCCCAGAAACCAACATTTATTGGTTACATCTGGATCTTCAGAACACCCACTTATGGTGTGTAGGTCAGTGCAGCTCAGGACCAAGCTGGAAACCAATGTTGGTGTTGCAATTTCCCACACTGGGAAATTACTGCCGTGCATCTGAGTAACCATGGGATTCAGAGTCTGACAGAACTGAGTTTCAATTCCAGCTCTGCCACTTATTAGCTGTGTGAATTAGGACAAATAGTTTAACCTTCCTCTATAAATGAGAATTGAGAACAGTATGGACCTTGTTAGTTATCATAAAAATTAAATGAAATAATGCATGCAAAGGACTTAGCAAAGAACCTGCGCATAGTAAGAGGTGAATACGTACTAGTGATGATGATGAGAATATCCATTAGCAGCATTTATTGAGTCCTCACTGAACACAGAGTGGGCCCTCCAATAAATGTGTGTGCATCCTCAACTGAGGAGGATGGTTAAAAGGAGATTTCCCCTCCACTGGGCCCTGAGGATACATGTATTACCTGCTCCAGAAGACAGCCCCTGAGACCTTCTGCATCTCCCCCAGTGCGGCTAGAAGGAGCGAGGACTTGCCGCAGCCCACCTGCCCCACGATCATAGTCAGCTGGCCTGCAGGGAGGGAGGGTGGCAGATGTGAGTGGGGCCGGGGGAGTCTGAACAACCATTACCCAGAAAGACAGACAGACAGATGCACCCAACCCTGGGGCCCCTGTTTTCTTTCTTCCTACCTAGAATCCCCAGCAAGTCCTCTCCCTCTTTAATCCTTTCCTTCTGGAAATCAACATCCTCCTCTGGCTCCCCAGGTCCTTCCCCCTCTCTGATTTCCTGCCCCGCCACCCTTCCTAAGCACTCGCTTCTCCTTTCCCATGCTCCTAGTATGAGCCCAGGCTCCTTGTGGTCCCAAGAAACACCATCCTGGGTCCCACCTCCAACCCACCTCCATACTTTGCTCATGGCTGCCTCTGCCAGAAAATCCTCCTGCCTCATGGCCTCAGGGCCTTTGTCCATTCTCAGAAACCCCATCACTTCCACTTGCGTTCCTTGGCTACCCACTTCTGATCTTTTTGTGCATTACCTATACTGTCTGCAATGGATGGTTTGACATTAAGGCTGGCAATTTTACCCTGTCCTTAGTGCTTCACTCCCACCCAGCACACGGAAGCCTCTAGAATGTAGCCTTCCCCTTCTATAATATACCCAGGGCATACACCAAGAATGAGCAGAGAGTAGGTGCTCAATAAATGCAGCTTTGTCTTTTTATCTCTATGTTATTCAGTGGGACATGGGGAGGGGCATGCTGGAGGGGTGGACTGGGCCATACCTCGGGGGATACGAATGGTGATGTTGGACAGTGTGGGGATTCCATCTGGGGTCCACGTGAAGTAGCCTCCCATGATCTTCATTAGGCGTGTCCCACCGCCCAGGAGAGAACAGAAAGGCAGCCAGTTCCCAGTGAATAGTCTCTGGCTTCCCCTCCTCCATGAAAGCCAAAAGACACTGATTCCAGCCCCTGGATCACTTCCAGAGCAGGGGAGTGGGAGACTGGCCTTCTCATGCTGACCCTTGCCTAAGGCTGGGGGTCCCCCCACTTGGTGGTCCCTGGTTTCTGGACTCCTATGGACCGTACAGGCAGGCAGGGTGACCTCTGCAGAGGACTAAGCATGCAGCTTTCTGGCTTTCCAGGTGCTGAGCTCCCTCTGGGAGTTGGTGCTGGGTGGCCAGGCATGGGGCAGCAGGACTCACCTGGACACAGCAGTTGTCAGCATCGCCATCTGCACTGGGGACCAGGCTCTGCAGTGGGCCGGTGAGGCCCCGACAATCCTCCCGGGCTGGACGCTTGCGGTTCACAACCCTGAGGGGCTGGGGGTGGTTTGGAGGTGAGGACCCACTGGGCTGGGAGCTGTGTAGGGAAGGGAGCCCCTCTTCCTGGGAAAAAAGGCAGAAGTCCGACACAGCAGGCCCAAGTTTTGGGCCTTAGAGGACCATGCTGGGAGTAGCAAGGGGAGGCCGGGCACTCACCACCGCCTGGTACTTGCTGGCTGGGCCCTGAGGTGTGGGCTCATGGGGGGCACACTGCTCCTCACGGATCTCTGCACTGGACAGGAACTCGCTTAGCTTTTGCACGCTGCTCGGGAAGCACAGAGACACCCCTCACCCCTGCCAGGGGCAGAGGGGAGGGGAGAGGGCGCAGCCTGATAGAGAGCTCTGAGCAGGATCTCAGGCCTGAAGTATAGTCCCACAAAGCCCACACTGAAGGGGGCAGACCAGTGGGCATGGGGGCAGGTAATTGGTGTTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCTCTCCCCTGTCCAG
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TCCTCCCTCCAAAGGCTGGAGAGGCAGTCGGAATAAGGCAATATGATCTCAAACCGAATACCTGGGCCTTCCCAGTCAGGCTATGTTGAAAAATCTCCCAAATAAAATGGCGAATGGAGGCAAAGACCCCTCTGCCCCCAAAGACATCACAGTCCCTGATGGGAGGTGATGGGAAACCCAAGGGGCTCATCTGCTAGCCCACGACCCCACTGAGGAGGGAAATTTGCCATCTTTTGGATACACCATTCAGGGACATCTTGGAAATGCAGGAAACGGGGGTGCATGTTGATATTCAGACATTGGGCCCAAAGTCTTTCTCCCTGCTCAGTTCTGTACTCATGCTTATGAAAAACCTGACACCTTCAATAATTTTCCCCTAGAAATGATTGGTAGGGAAAGCTTGCCCTTCTGCTGATTGGCTGCAACTTTTATTCCTAAATGAATACTCCAAAGCCCAGAGATCCCTTTTTCCCTTGGCTACCAGAGGGCACAGAGCCAGGTTTTATGTTGATGGCTGTAGTTGTCCTCTGCCCAGGTTGCTGAACATCTTTTTACCCTCTTCATTTCTCAGTTCCTATTTTCTTACCTTTTTAAAGGGTTTTATTTTACATGCATCTTTTTTTATTATACTTCAAGTTCTGGGATATACGTGCAGAACGTGCAGGTTTGTTACATAGGTATACACATGCCATGGTGGTTTGCTGCACCCATCAACCCTTCATCTACATTAAGTATTTCTCCTAATGCTATCCCTCCCCTTGCCCCCCACCCCCAGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTCATTGTTCAACTCCCACTTATGAGTGAGAACATGTGGTATTTGCTTTTCTGTTCCTGTGTGAGTTTGCTGAGAATGATAGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACACGAACTCAACCTTTTTTATGTCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTTATCCAGTCTATCATTGATGGGCATTTGGGTTGTTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAAACATACGTCTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTTGGGTATATACCCAGTAATGGAATTGCTGGGTCAAATGGTATTTCTGGTTCTAGATCCTTGAGGAATCACCGCACTGTCTTCCACAATGGTTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCGTTCCTATTTCTCCACATCCTCTCCAGCATTTGTTGTTTCCTGACTTTTTAACGATCACCATTCTAACGGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTTTACATGAATCTTTCATCAACTAGTTTCAAGTGCTTCTTGGAAGTAGGTGGGTATAAATAACAGATTCGTGATTGACTGAGCCTGGGGTTCTGGCTCTTTAATTAAGACAGTGATCTTTGCCCAGAAACCAACATTTATTGGTTACATCTGGATCTTCAGAACACCCACTTATGGTGTGTAGGTCAGTGCAGCTCAGGACCAAGCTGGAAACCAATGTTGGTGTTGCAATTTCCCACACTGGGAAATTACTGCCGTGCATCTGAGTAACCATGGGATTCAGAGTCTGACAGAACTGAGTTTCAATTCCAGCTCTGCCACTTATTAGCTGTGTGAATTAGGACAAATAGTTTAACCTTCCTCTATAAATGAGAATTGAGAACAGTATGGACCTTGTTAGTTATCATAAAAATTAAATGAAATAATGCATGCAAAGGACTTAGCAAAGAACCTGCGCATAGTAAGAGGTGAATACGTACTAGTGATGATGATGAGAATATCCATTAGCAGCATTTATTGAGTCCTCACTGAACACAGAGTGGGCCCTCCAATAAATGTGTGTGCATCCTCAACTGAGGAGGATGGTTAAAAGGAGATTTCCCCTCCACTGGGCCCTGAGGATACATGTATTACCTGCTCCAGAAGACAGCCCCTGAGACCTTCTGCATCTCCCCCAGTGCGGCTAGAAGGAGCGAGGACTTGCCGCAGACCACCTGCCCCACGATCATAGTCAGCTGGCCTGCAGGGAGGGAGGGTGGCAGATGTGAGTGGGGCCGGGGGAGTCTGAACAACCATTACCCAGAAAGACAGACAGACAGATGCACCCAACCCTGGGGCCCCTGTTTTCTTTCTTCCTACCTAGAATCCCCAGCAAGTCCTCTCCCTCTTTAATCCTTTCCTTCTGGAAATCAACATCCTCCTCTGGCTCCCCAGGTCCTTCCCCCTCTCTGATTTCCTGCCCCGCCACCCTTCCTAAGCACTCGCTTCTCCTTTCCCATGCTCCTAGTATGAGCCCAGGCTCCTTGTGGTCCCAAGAAACACCATCCTGGGTCCCACCTCCAACCCACCTCCATACTTTGCTCATGGCTGCCTCTGCCAGAAAATCCTCCTGCCTCATGGCCTCAGGGCCTTTGTCCATTCTCAGAAACCCCATCACTTCCACTTGCGTTCCTTGGCTACCCACTTCTGATCTTTTTGTGCATTACCTATACTGTCTGCAATGGATGGTTTGACATTAAGGCTGGCAATTTTACCCTGTCCTTAGTGCTTCACTCCCACCCAGCACACGGAAGCCTCTAGAATGTAGCCTTCCCCTTCTATAATATACCCAGGGCATACACCAAGAATGAGCAGAGAGTAGGTGCTCAATAAATGCAGCTTTGTCTTTTTATCTCTATGTTATTCAGTGGGACATGGGGAGGGGCATGCTGGAGGGGTGGACTGGGCCATACCTCGGGGGATACGAATGGTGATGTTGGACAGTGTGGGGATTCCATCTGGGGTCCACGTGAAGTAGCCTCCCATGATCTTCATTAGGCGTGTCCCACCGCCCAGGAGAGAACAGAAAGGCAGCCAGTTCCCAGTGAATAGTCTCTGGCTTCCCCTCCTCCATGAAAGCCAAAAGACACTGATTCCAGCCCCTGGATCACTTCCAGAGCAGGGGAGTGGGAGACTGGCCTTCTCATGCTGACCCTTGCCTAAGGCTGGGGGTCCCCCCACTTGGTGGTCCCTGGTTTCTGGACTCCTATGGACCGTACAGGCAGGCAGGGTGACCTCTGCAGAGGACTAAGCATGCAGCTTTCTGGCTTTCCAGGTGCTGAGCTCCCTCTGGGAGTTGGTGCTGGGTGGCCAGGCATGGGGCAGCAGGACTCACCTGGACACAGCAGTTGTCAGCATCGCCATCTGCACTGGGGACCAGGCTCTGCAGTGGGCCGGTGAGGCCCCGACAATCCTCCCGGGCTGGACGCTTGCGGTTCACAACCCTGAGGGGCTGGGGGTGGTTTGGAGGTGAGGACCCACTGGGCTGGGAGCTGTGTAGGGAAGGGAGCCCCTCTTCCTGGGAAAAAAGGCAGAAGTCCGACACAGCAGGCCCAAGTTTTGGGCCTTAGAGGACCATGCTGGGAGTAGCAAGGGGAGGCCGGGCACTCACCACCGCCTGGTACTTGCTGGCTGGGCCCTGAGGTGTGGGCTCATGGGGGGCACACTGCTCCTCACGGATCTCTGCACTGGACAGGAACTCGCTTAGCTTTTGCACGCTGCTCGGGAAGCACAGAGACACCCCTCACCCCTGCCAGGGGCAGAGGGGAGGGGAGAGGGCGCAGCCTGATAGAGAGCTCTGAGCAGGATCTCAGGCCTGAAGTATAGTCCCACAAAGCCCACACTGAAGGGGGCAGACCAGTGGGCATGGGGGCAGGTAATTGGTGTTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCTCTCCCCTGTCCAG
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Task1_train_15383
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A change on Chromosome 11 affects gene ABCC8 (ATP binding cassette subfamily C member 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; not provided
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CCAGTGGGCATGGGGGCAGGTAATTGGTGTTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCTCTCCCCTGTCCAGATTTCCCTGTGGACCTGAGGAAGCACTGGAAGCTTCACTCTTCTAGTTCATTCTCTCCCATCCTGGAGGTGTGAAAGCTTTCTGGGAAGCTCAGGATTGTTTGTATTCCCCTTTCTTCTCTTTTGCTAAATGTCCAACAGGCCTGGGGCAGACAAGCCATCCCACCCTCAAGGCAAGGTTATTCTGGGGTGTAAGTGAGCTGTGGCCTGGAGTCTCCCTTTCTGTGCGCCACCCCTAGATGGGAGGGGCAGACCACCAGGCTCTGCCTTCATGCCCTGTCCAGCCTCCCTCCCCCACAGGCGGTGACTGGGAAGAGTGGAGCTGGCCCTCATCTCTTGGGGTGAAGCTTCAGGTAGTGTCCTGCGCCCACCTTCAGCCAGAGCCTGAGCTGCCTCACTGAAAAGGCCTCTGCTACTCTGGTGTTCCATTCCTGGAAACAGTGGGATCCAGAGTGTTTGAAAATATGAACGCTTTGGGATCAGTGCAACAGTTTTCAGGCAGGTGCAGCGTTCTTAAATCTGTGGTTTCTACACAGAATCATAGGGCTGGAGAGTGGGTGGTGGGAGGAGGGGTGATCTTCAGACCCCACAACACCCTGGTCAAGAAACTGAGTCAGCACAGCCGACTGTGGAAATGGGAGCTAATCCCTGTTTAACCAGCTACTGCCTGGTCAGATACTCCTTAGAGCATAATTTTGCTGAGTTATGCCCCATTCCATCTTTGAACCCATGCTAGAGTCTCCCCCTGCAAGCTACCCTCTCTATCAGCTACTTCATTCCAACAGCTACTCCTTCCTTCCAGCTTCCCAGTACCTGCCAGGGTCCCATGAGACAGGGGTGTCACCTTCCTCAAGGCTGAAGACACAGAGGACATTTGTTACTGACTGGTTCTCTGGCCATGGGTAAGGACAAGCCAGCCCTCCATAGAGGCATGACAGGCTCTTGCTTTCAAGGAGGCAGAGCTACTTCAGAGGCCCAAGGACATCTTCTCACTCCAGACAGGGCATTTCCCAGCCAAAGCCTCAGCCTTCTACCTTCAGGCTTTCATTCCCAAGAGGGCAATGCCTCTGGGACAGTGGCAGAGTCCCCATGAGGCTCTAGAGCCTGGAAGTGGGAGCCTCCAAGAGCTGTGGGCCAATCAGAGCAGGACCCAGCGCTTGGGGGAAGCTGTTTCACTGGCTGAGGCTGTGAGGGCTCAGGGGCTGTGGAAAGGGTAGGGGATACTTGGCCTGGGAAAGATAGACACAGTGGATGCCTTCTGATATCCATGGGGCAGCCACGTGGGGACGGGATGGCCTCATTCTTGGTGGCTCTGGAGGGTGAAGTTAGGACCAGTGGGTAGAATTTAGGAGGATTCCACATTTGGCTCAACACTGGTTTTTTTTTTTTTTTAAGTTGTCGTGAAAGTGACAGTGAGTCCCCTCTCCTGGGAGGTATGTAAGCAAGTCCTTGCTCAGGGATGGCGAGCTGGGAAACCATACAGGCCAATGTCCCTCTGACCAACCAGGACCAGCTACAGCAAGGCCCAGCAATGGGGGTGTGTTCCGGGACCAAACAGCTGTGGTTTGGCCATCACTCGAGCAAGCCTTGAGGCTGACACAGGACCTGCCTGCCCAGTGCCCTCGCCCGGACCCTCCCCTCACCTCACTAGAGCTTTGACGGTAGATCGGACCACACTGGACAGCAGGAACAGCGGTGTGACCAAGATATGGAAGAGGGAGAGGGAGGCAAAGGCCACGGAGGGCGAGAAGTCGGCCTCTTTGAAGAAGCTGACGTGGCCCACGAAAGTCTGTGGACAGAGGCACAAGTGAGGCCAGGGTGGCCCAGGGTGTGGGTCCCTCCCACACTGGAAACGCTCAGCACTGGAAGGGAAATGAGAGGGCTGTCAGGGAGCAGGCTCCTAAGAGGATCTTTTAGTTGGAGACACCTTCATCATCCCCACAGTCATCTCATGGAAACGTCCCCAACAAGTTCAGGACTTCAAGCTGGAGAGCAGGGGCTGCTCCCTCCCTGTCCTGGCCAAGACTCCCTGTCCTGCCCAGTCTTGGCTGGGAATAAGCAGGGAGGAGATCTCGGGTTAGGTCAGCACGGCCCCCTCTGCAGACAGCAGGCGGGGTGCTCATCTCCCCAGTCCTCATCGGGATAACGTAAACAGAGTGATTACGAAACTGCACAGTGCTTTGCCCCAGCCACCTGGCTGGCTCAGTGGCCTCTGTTACCCACAGTTCCCCCAGGAGCCAGGCCAGGAACCAGCTCAATACATCACATTGGAAGTGAATTCCCAAGTGTATCCGACAGGCTGTGAACTCTACACAGCTCAGGGACACTGGCCCCGGGGGAAATAAGCAGATCTTTTTAAGGAACTGCAGCCATCACAGAAGATGGGGATGGGAGGCTGGGTGAGGGGGCTGCAGGCTCGTAGGGGCCCAGGCCTTTCTGTAGGAGCATGCTGCTTGACCCCCATGGCTCAGCTCACACACAGCTTTTATCAAAATTGCTTTAGAAAGCCACCATCATAATATTCAGTGGCATGGAGAATTGTGTGTGGCATATTCCTAAATTTAAAAGAGCAGGTTGCAAAACTGCATGCATAGCACATTCCTATTTTTGTAGAAAATGACATATCATAGGCCTTAAAAAAAGACTGGAAAGAAACACATTAAAAATGTTACCAGTGGGATTATGGGTGATTTTAATTCTCTTTGAGCTTTCTGTTCTGGATTTCCCATCACTTCTACAATACACATGTTTCACTTTAAAAATTAAAAATTTGGATAGCTATTTTTTAAAAGAAAGTTTAATTTCTCTAAATACTAAGCCTCCGGTCTTCCAGGCCTGGAGGCAGAGGCCCCTGTTCGGCTGGAGTTGGGGAGGGGCCACACCCTCTATAAACTTTCGATCCTATTTTCAGTCTGGCTGTGGAGCCTGTCTTCTGAGGCCCCTGTGCAGAAAGGCCAAATCTGGGCAGCCTGTCACTGCAGACGCCCTCCCCCTCCACCCTACCCCCAAGAGATGGAGAAAGGATCCACTTACTATGAGGACAGCTGCAATGGGGATGGCCGTGTTCATGAAAACTGCAGAGGAAGCACAGGGAGGCGTTTAGTGGGAGGAGCGTGACAGCTACACATGGAGATGCCCAGGATGGCTTGGAGGCAGCGCAGTCCAGTGGGGCCAGCCTGTGGGGCACAGCTCCAGTAGGCTAGGGGCAGAACTCTAGCCCTGTGGCACTTCCAGTTCCTCACCCCATTTCCCTCAGGACTCTTGTCCCAGGTACCCCGGCCCCCGACTCTGGGGCTTAAACTGTTAAGTCACTCCGTGTGGACAGGGTGAAGTTAGCCCCACGGGAAAGTGGTGGGAGAAGGATGGGAGAGTTGGCTGGCTGTGGCCAACTGTGAGGTCAGGAGCACGTGTTTCTGGGGGCACAAAGCTGCCACTTCTTCCTCTGCCTTTGGCTCCTGTGTCCCCCCAAGCCAGGCTCTCTATGAAGCTTAGAGACTTCCTAGTCTCCCATGGCTCTTGAGAAAATTTCAAACTCATTCTCACTGAGGTATTAGTAACTAAGGACAGCTTAAAGCAGGATGTCCCTTAGAGTCTGTGTGCGGGTGGGGTAGCTGGTTTGCTGCAACAGAGGCCTCCTCCTTATTCTGTTAAACATGTGGCCTTTAGATCAGTCACAGGGACTCCAGGAAGAAAAGACAGTGGGACTTGGTGTGACAGAAGGGCAGAATCCCTGCT
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CCAGTGGGCATGGGGGCAGGTAATTGGTGTTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCTCTCCCCTGTCCAGATTTCCCTGTGGACCTGAGGAAGCACTGGAAGCTTCACTCTTCTAGTTCATTCTCTCCCATCCTGGAGGTGTGAAAGCTTTCTGGGAAGCTCAGGATTGTTTGTATTCCCCTTTCTTCTCTTTTGCTAAATGTCCAACAGGCCTGGGGCAGACAAGCCATCCCACCCTCAAGGCAAGGTTATTCTGGGGTGTAAGTGAGCTGTGGCCTGGAGTCTCCCTTTCTGTGCGCCACCCCTAGATGGGAGGGGCAGACCACCAGGCTCTGCCTTCATGCCCTGTCCAGCCTCCCTCCCCCACAGGCGGTGACTGGGAAGAGTGGAGCTGGCCCTCATCTCTTGGGGTGAAGCTTCAGGTAGTGTCCTGCGCCCACCTTCAGCCAGAGCCTGAGCTGCCTCACTGAAAAGGCCTCTGCTACTCTGGTGTTCCATTCCTGGAAACAGTGGGATCCAGAGTGTTTGAAAATATGAACGCTTTGGGATCAGTGCAACAGTTTTCAGGCAGGTGCAGCGTTCTTAAATCTGTGGTTTCTACACAGAATCATAGGGCTGGAGAGTGGGTGGTGGGAGGAGGGGTGATCTTCAGACCCCACAACACCCTGGTCAAGAAACTGAGTCAGCACAGCCGACTGTGGAAATGGGAGCTAATCCCTGTTTAACCAGCTACTGCCTGGTCAGATACTCCTTAGAGCATAATTTTGCTGAGTTATGCCCCATTCCATCTTTGAACCCATGCTAGAGTCTCCCCCTGCAAGCTACCCTCTCTATCAGCTACTTCATTCCAACAGCTACTCCTTCCTTCCAGCTTCCCAGTACCTGCCAGGGTCCCATGAGACAGGGGTGTCACCTTCCTCAAGGCTGAAGACACAGAGGACATTTGTTACTGACTGGTTCTCTGGCCATGGGTAAGGACAAGCCAGCCCTCCATAGAGGCATGACAGGCTCTTGCTTTCAAGGAGGCAGAGCTACTTCAGAGGCCCAAGGACATCTTCTCACTCCAGACAGGGCATTTCCCAGCCAAAGCCTCAGCCTTCTACCTTCAGGCTTTCATTCCCAAGAGGGCAATGCCTCTGGGACAGTGGCAGAGTCCCCATGAGGCTCTAGAGCCTGGAAGTGGGAGCCTCCAAGAGCTGTGGGCCAATCAGAGCAGGACCCAGCGCTTGGGGGAAGCTGTTTCACTGGCTGAGGCTGTGAGGGCTCAGGGGCTGTGGAAAGGGTAGGGGATACTTGGCCTGGGAAAGATAGACACAGTGGATGCCTTCTGATATCCATGGGGCAGCCACGTGGGGACGGGATGGCCTCATTCTTGGTGGCTCTGGAGGGTGAAGTTAGGACCAGTGGGTAGAATTTAGGAGGATTCCACATTTGGCTCAACACTGGTTTTTTTTTTTTTTTAAGTTGTCGTGAAAGTGACAGTGAGTCCCCTCTCCTGGGAGGTATGTAAGCAAGTCCTTGCTCAGGGATGGCGAGCTGGGAAACCATACAGGCCAATGTCCCTCTGACCAACCAGGACCAGCTACAGCAAGGCCCAGCAATGGGGGTGTGTTCCGGGACCAAACAGCTGTGGTTTGGCCATCACTCGAGCAAGCCTTGAGGCTGACACAGGACCTGCCTGCCCAGTGCCCTCGCCCGGACCCTCCCCTCACCTCACTAGAGCTTTGACGGTAGATCGGACCACACTGGACAGCAGCAACAGCGGTGTGACCAAGATATGGAAGAGGGAGAGGGAGGCAAAGGCCACGGAGGGCGAGAAGTCGGCCTCTTTGAAGAAGCTGACGTGGCCCACGAAAGTCTGTGGACAGAGGCACAAGTGAGGCCAGGGTGGCCCAGGGTGTGGGTCCCTCCCACACTGGAAACGCTCAGCACTGGAAGGGAAATGAGAGGGCTGTCAGGGAGCAGGCTCCTAAGAGGATCTTTTAGTTGGAGACACCTTCATCATCCCCACAGTCATCTCATGGAAACGTCCCCAACAAGTTCAGGACTTCAAGCTGGAGAGCAGGGGCTGCTCCCTCCCTGTCCTGGCCAAGACTCCCTGTCCTGCCCAGTCTTGGCTGGGAATAAGCAGGGAGGAGATCTCGGGTTAGGTCAGCACGGCCCCCTCTGCAGACAGCAGGCGGGGTGCTCATCTCCCCAGTCCTCATCGGGATAACGTAAACAGAGTGATTACGAAACTGCACAGTGCTTTGCCCCAGCCACCTGGCTGGCTCAGTGGCCTCTGTTACCCACAGTTCCCCCAGGAGCCAGGCCAGGAACCAGCTCAATACATCACATTGGAAGTGAATTCCCAAGTGTATCCGACAGGCTGTGAACTCTACACAGCTCAGGGACACTGGCCCCGGGGGAAATAAGCAGATCTTTTTAAGGAACTGCAGCCATCACAGAAGATGGGGATGGGAGGCTGGGTGAGGGGGCTGCAGGCTCGTAGGGGCCCAGGCCTTTCTGTAGGAGCATGCTGCTTGACCCCCATGGCTCAGCTCACACACAGCTTTTATCAAAATTGCTTTAGAAAGCCACCATCATAATATTCAGTGGCATGGAGAATTGTGTGTGGCATATTCCTAAATTTAAAAGAGCAGGTTGCAAAACTGCATGCATAGCACATTCCTATTTTTGTAGAAAATGACATATCATAGGCCTTAAAAAAAGACTGGAAAGAAACACATTAAAAATGTTACCAGTGGGATTATGGGTGATTTTAATTCTCTTTGAGCTTTCTGTTCTGGATTTCCCATCACTTCTACAATACACATGTTTCACTTTAAAAATTAAAAATTTGGATAGCTATTTTTTAAAAGAAAGTTTAATTTCTCTAAATACTAAGCCTCCGGTCTTCCAGGCCTGGAGGCAGAGGCCCCTGTTCGGCTGGAGTTGGGGAGGGGCCACACCCTCTATAAACTTTCGATCCTATTTTCAGTCTGGCTGTGGAGCCTGTCTTCTGAGGCCCCTGTGCAGAAAGGCCAAATCTGGGCAGCCTGTCACTGCAGACGCCCTCCCCCTCCACCCTACCCCCAAGAGATGGAGAAAGGATCCACTTACTATGAGGACAGCTGCAATGGGGATGGCCGTGTTCATGAAAACTGCAGAGGAAGCACAGGGAGGCGTTTAGTGGGAGGAGCGTGACAGCTACACATGGAGATGCCCAGGATGGCTTGGAGGCAGCGCAGTCCAGTGGGGCCAGCCTGTGGGGCACAGCTCCAGTAGGCTAGGGGCAGAACTCTAGCCCTGTGGCACTTCCAGTTCCTCACCCCATTTCCCTCAGGACTCTTGTCCCAGGTACCCCGGCCCCCGACTCTGGGGCTTAAACTGTTAAGTCACTCCGTGTGGACAGGGTGAAGTTAGCCCCACGGGAAAGTGGTGGGAGAAGGATGGGAGAGTTGGCTGGCTGTGGCCAACTGTGAGGTCAGGAGCACGTGTTTCTGGGGGCACAAAGCTGCCACTTCTTCCTCTGCCTTTGGCTCCTGTGTCCCCCCAAGCCAGGCTCTCTATGAAGCTTAGAGACTTCCTAGTCTCCCATGGCTCTTGAGAAAATTTCAAACTCATTCTCACTGAGGTATTAGTAACTAAGGACAGCTTAAAGCAGGATGTCCCTTAGAGTCTGTGTGCGGGTGGGGTAGCTGGTTTGCTGCAACAGAGGCCTCCTCCTTATTCTGTTAAACATGTGGCCTTTAGATCAGTCACAGGGACTCCAGGAAGAAAAGACAGTGGGACTTGGTGTGACAGAAGGGCAGAATCCCTGCT
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Task1_train_15384
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Consider a variant on Chromosome 11 in gene ABCC8 (ATP binding cassette subfamily C member 8). Determine its clinical classification and disease relevance.
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Pathogenic; Type 2 diabetes mellitus
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TTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCTCTCCCCTGTCCAGATTTCCCTGTGGACCTGAGGAAGCACTGGAAGCTTCACTCTTCTAGTTCATTCTCTCCCATCCTGGAGGTGTGAAAGCTTTCTGGGAAGCTCAGGATTGTTTGTATTCCCCTTTCTTCTCTTTTGCTAAATGTCCAACAGGCCTGGGGCAGACAAGCCATCCCACCCTCAAGGCAAGGTTATTCTGGGGTGTAAGTGAGCTGTGGCCTGGAGTCTCCCTTTCTGTGCGCCACCCCTAGATGGGAGGGGCAGACCACCAGGCTCTGCCTTCATGCCCTGTCCAGCCTCCCTCCCCCACAGGCGGTGACTGGGAAGAGTGGAGCTGGCCCTCATCTCTTGGGGTGAAGCTTCAGGTAGTGTCCTGCGCCCACCTTCAGCCAGAGCCTGAGCTGCCTCACTGAAAAGGCCTCTGCTACTCTGGTGTTCCATTCCTGGAAACAGTGGGATCCAGAGTGTTTGAAAATATGAACGCTTTGGGATCAGTGCAACAGTTTTCAGGCAGGTGCAGCGTTCTTAAATCTGTGGTTTCTACACAGAATCATAGGGCTGGAGAGTGGGTGGTGGGAGGAGGGGTGATCTTCAGACCCCACAACACCCTGGTCAAGAAACTGAGTCAGCACAGCCGACTGTGGAAATGGGAGCTAATCCCTGTTTAACCAGCTACTGCCTGGTCAGATACTCCTTAGAGCATAATTTTGCTGAGTTATGCCCCATTCCATCTTTGAACCCATGCTAGAGTCTCCCCCTGCAAGCTACCCTCTCTATCAGCTACTTCATTCCAACAGCTACTCCTTCCTTCCAGCTTCCCAGTACCTGCCAGGGTCCCATGAGACAGGGGTGTCACCTTCCTCAAGGCTGAAGACACAGAGGACATTTGTTACTGACTGGTTCTCTGGCCATGGGTAAGGACAAGCCAGCCCTCCATAGAGGCATGACAGGCTCTTGCTTTCAAGGAGGCAGAGCTACTTCAGAGGCCCAAGGACATCTTCTCACTCCAGACAGGGCATTTCCCAGCCAAAGCCTCAGCCTTCTACCTTCAGGCTTTCATTCCCAAGAGGGCAATGCCTCTGGGACAGTGGCAGAGTCCCCATGAGGCTCTAGAGCCTGGAAGTGGGAGCCTCCAAGAGCTGTGGGCCAATCAGAGCAGGACCCAGCGCTTGGGGGAAGCTGTTTCACTGGCTGAGGCTGTGAGGGCTCAGGGGCTGTGGAAAGGGTAGGGGATACTTGGCCTGGGAAAGATAGACACAGTGGATGCCTTCTGATATCCATGGGGCAGCCACGTGGGGACGGGATGGCCTCATTCTTGGTGGCTCTGGAGGGTGAAGTTAGGACCAGTGGGTAGAATTTAGGAGGATTCCACATTTGGCTCAACACTGGTTTTTTTTTTTTTTTAAGTTGTCGTGAAAGTGACAGTGAGTCCCCTCTCCTGGGAGGTATGTAAGCAAGTCCTTGCTCAGGGATGGCGAGCTGGGAAACCATACAGGCCAATGTCCCTCTGACCAACCAGGACCAGCTACAGCAAGGCCCAGCAATGGGGGTGTGTTCCGGGACCAAACAGCTGTGGTTTGGCCATCACTCGAGCAAGCCTTGAGGCTGACACAGGACCTGCCTGCCCAGTGCCCTCGCCCGGACCCTCCCCTCACCTCACTAGAGCTTTGACGGTAGATCGGACCACACTGGACAGCAGGAACAGCGGTGTGACCAAGATATGGAAGAGGGAGAGGGAGGCAAAGGCCACGGAGGGCGAGAAGTCGGCCTCTTTGAAGAAGCTGACGTGGCCCACGAAAGTCTGTGGACAGAGGCACAAGTGAGGCCAGGGTGGCCCAGGGTGTGGGTCCCTCCCACACTGGAAACGCTCAGCACTGGAAGGGAAATGAGAGGGCTGTCAGGGAGCAGGCTCCTAAGAGGATCTTTTAGTTGGAGACACCTTCATCATCCCCACAGTCATCTCATGGAAACGTCCCCAACAAGTTCAGGACTTCAAGCTGGAGAGCAGGGGCTGCTCCCTCCCTGTCCTGGCCAAGACTCCCTGTCCTGCCCAGTCTTGGCTGGGAATAAGCAGGGAGGAGATCTCGGGTTAGGTCAGCACGGCCCCCTCTGCAGACAGCAGGCGGGGTGCTCATCTCCCCAGTCCTCATCGGGATAACGTAAACAGAGTGATTACGAAACTGCACAGTGCTTTGCCCCAGCCACCTGGCTGGCTCAGTGGCCTCTGTTACCCACAGTTCCCCCAGGAGCCAGGCCAGGAACCAGCTCAATACATCACATTGGAAGTGAATTCCCAAGTGTATCCGACAGGCTGTGAACTCTACACAGCTCAGGGACACTGGCCCCGGGGGAAATAAGCAGATCTTTTTAAGGAACTGCAGCCATCACAGAAGATGGGGATGGGAGGCTGGGTGAGGGGGCTGCAGGCTCGTAGGGGCCCAGGCCTTTCTGTAGGAGCATGCTGCTTGACCCCCATGGCTCAGCTCACACACAGCTTTTATCAAAATTGCTTTAGAAAGCCACCATCATAATATTCAGTGGCATGGAGAATTGTGTGTGGCATATTCCTAAATTTAAAAGAGCAGGTTGCAAAACTGCATGCATAGCACATTCCTATTTTTGTAGAAAATGACATATCATAGGCCTTAAAAAAAGACTGGAAAGAAACACATTAAAAATGTTACCAGTGGGATTATGGGTGATTTTAATTCTCTTTGAGCTTTCTGTTCTGGATTTCCCATCACTTCTACAATACACATGTTTCACTTTAAAAATTAAAAATTTGGATAGCTATTTTTTAAAAGAAAGTTTAATTTCTCTAAATACTAAGCCTCCGGTCTTCCAGGCCTGGAGGCAGAGGCCCCTGTTCGGCTGGAGTTGGGGAGGGGCCACACCCTCTATAAACTTTCGATCCTATTTTCAGTCTGGCTGTGGAGCCTGTCTTCTGAGGCCCCTGTGCAGAAAGGCCAAATCTGGGCAGCCTGTCACTGCAGACGCCCTCCCCCTCCACCCTACCCCCAAGAGATGGAGAAAGGATCCACTTACTATGAGGACAGCTGCAATGGGGATGGCCGTGTTCATGAAAACTGCAGAGGAAGCACAGGGAGGCGTTTAGTGGGAGGAGCGTGACAGCTACACATGGAGATGCCCAGGATGGCTTGGAGGCAGCGCAGTCCAGTGGGGCCAGCCTGTGGGGCACAGCTCCAGTAGGCTAGGGGCAGAACTCTAGCCCTGTGGCACTTCCAGTTCCTCACCCCATTTCCCTCAGGACTCTTGTCCCAGGTACCCCGGCCCCCGACTCTGGGGCTTAAACTGTTAAGTCACTCCGTGTGGACAGGGTGAAGTTAGCCCCACGGGAAAGTGGTGGGAGAAGGATGGGAGAGTTGGCTGGCTGTGGCCAACTGTGAGGTCAGGAGCACGTGTTTCTGGGGGCACAAAGCTGCCACTTCTTCCTCTGCCTTTGGCTCCTGTGTCCCCCCAAGCCAGGCTCTCTATGAAGCTTAGAGACTTCCTAGTCTCCCATGGCTCTTGAGAAAATTTCAAACTCATTCTCACTGAGGTATTAGTAACTAAGGACAGCTTAAAGCAGGATGTCCCTTAGAGTCTGTGTGCGGGTGGGGTAGCTGGTTTGCTGCAACAGAGGCCTCCTCCTTATTCTGTTAAACATGTGGCCTTTAGATCAGTCACAGGGACTCCAGGAAGAAAAGACAGTGGGACTTGGTGTGACAGAAGGGCAGAATCCCTGCTACTTATAAGCTGTGTAACCTAGGGCATGT
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TTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCTCTCCCCTGTCCAGATTTCCCTGTGGACCTGAGGAAGCACTGGAAGCTTCACTCTTCTAGTTCATTCTCTCCCATCCTGGAGGTGTGAAAGCTTTCTGGGAAGCTCAGGATTGTTTGTATTCCCCTTTCTTCTCTTTTGCTAAATGTCCAACAGGCCTGGGGCAGACAAGCCATCCCACCCTCAAGGCAAGGTTATTCTGGGGTGTAAGTGAGCTGTGGCCTGGAGTCTCCCTTTCTGTGCGCCACCCCTAGATGGGAGGGGCAGACCACCAGGCTCTGCCTTCATGCCCTGTCCAGCCTCCCTCCCCCACAGGCGGTGACTGGGAAGAGTGGAGCTGGCCCTCATCTCTTGGGGTGAAGCTTCAGGTAGTGTCCTGCGCCCACCTTCAGCCAGAGCCTGAGCTGCCTCACTGAAAAGGCCTCTGCTACTCTGGTGTTCCATTCCTGGAAACAGTGGGATCCAGAGTGTTTGAAAATATGAACGCTTTGGGATCAGTGCAACAGTTTTCAGGCAGGTGCAGCGTTCTTAAATCTGTGGTTTCTACACAGAATCATAGGGCTGGAGAGTGGGTGGTGGGAGGAGGGGTGATCTTCAGACCCCACAACACCCTGGTCAAGAAACTGAGTCAGCACAGCCGACTGTGGAAATGGGAGCTAATCCCTGTTTAACCAGCTACTGCCTGGTCAGATACTCCTTAGAGCATAATTTTGCTGAGTTATGCCCCATTCCATCTTTGAACCCATGCTAGAGTCTCCCCCTGCAAGCTACCCTCTCTATCAGCTACTTCATTCCAACAGCTACTCCTTCCTTCCAGCTTCCCAGTACCTGCCAGGGTCCCATGAGACAGGGGTGTCACCTTCCTCAAGGCTGAAGACACAGAGGACATTTGTTACTGACTGGTTCTCTGGCCATGGGTAAGGACAAGCCAGCCCTCCATAGAGGCATGACAGGCTCTTGCTTTCAAGGAGGCAGAGCTACTTCAGAGGCCCAAGGACATCTTCTCACTCCAGACAGGGCATTTCCCAGCCAAAGCCTCAGCCTTCTACCTTCAGGCTTTCATTCCCAAGAGGGCAATGCCTCTGGGACAGTGGCAGAGTCCCCATGAGGCTCTAGAGCCTGGAAGTGGGAGCCTCCAAGAGCTGTGGGCCAATCAGAGCAGGACCCAGCGCTTGGGGGAAGCTGTTTCACTGGCTGAGGCTGTGAGGGCTCAGGGGCTGTGGAAAGGGTAGGGGATACTTGGCCTGGGAAAGATAGACACAGTGGATGCCTTCTGATATCCATGGGGCAGCCACGTGGGGACGGGATGGCCTCATTCTTGGTGGCTCTGGAGGGTGAAGTTAGGACCAGTGGGTAGAATTTAGGAGGATTCCACATTTGGCTCAACACTGGTTTTTTTTTTTTTTTAAGTTGTCGTGAAAGTGACAGTGAGTCCCCTCTCCTGGGAGGTATGTAAGCAAGTCCTTGCTCAGGGATGGCGAGCTGGGAAACCATACAGGCCAATGTCCCTCTGACCAACCAGGACCAGCTACAGCAAGGCCCAGCAATGGGGGTGTGTTCCGGGACCAAACAGCTGTGGTTTGGCCATCACTCGAGCAAGCCTTGAGGCTGACACAGGACCTGCCTGCCCAGTGCCCTCGCCCGGACCCTCCCCTCACCTCACTAGAGCTTTGACGGTAGATCGGACCACACTGGACAGCAGGAACAGCGGTGTGACCAAGATATGGAAGACGGAGAGGGAGGCAAAGGCCACGGAGGGCGAGAAGTCGGCCTCTTTGAAGAAGCTGACGTGGCCCACGAAAGTCTGTGGACAGAGGCACAAGTGAGGCCAGGGTGGCCCAGGGTGTGGGTCCCTCCCACACTGGAAACGCTCAGCACTGGAAGGGAAATGAGAGGGCTGTCAGGGAGCAGGCTCCTAAGAGGATCTTTTAGTTGGAGACACCTTCATCATCCCCACAGTCATCTCATGGAAACGTCCCCAACAAGTTCAGGACTTCAAGCTGGAGAGCAGGGGCTGCTCCCTCCCTGTCCTGGCCAAGACTCCCTGTCCTGCCCAGTCTTGGCTGGGAATAAGCAGGGAGGAGATCTCGGGTTAGGTCAGCACGGCCCCCTCTGCAGACAGCAGGCGGGGTGCTCATCTCCCCAGTCCTCATCGGGATAACGTAAACAGAGTGATTACGAAACTGCACAGTGCTTTGCCCCAGCCACCTGGCTGGCTCAGTGGCCTCTGTTACCCACAGTTCCCCCAGGAGCCAGGCCAGGAACCAGCTCAATACATCACATTGGAAGTGAATTCCCAAGTGTATCCGACAGGCTGTGAACTCTACACAGCTCAGGGACACTGGCCCCGGGGGAAATAAGCAGATCTTTTTAAGGAACTGCAGCCATCACAGAAGATGGGGATGGGAGGCTGGGTGAGGGGGCTGCAGGCTCGTAGGGGCCCAGGCCTTTCTGTAGGAGCATGCTGCTTGACCCCCATGGCTCAGCTCACACACAGCTTTTATCAAAATTGCTTTAGAAAGCCACCATCATAATATTCAGTGGCATGGAGAATTGTGTGTGGCATATTCCTAAATTTAAAAGAGCAGGTTGCAAAACTGCATGCATAGCACATTCCTATTTTTGTAGAAAATGACATATCATAGGCCTTAAAAAAAGACTGGAAAGAAACACATTAAAAATGTTACCAGTGGGATTATGGGTGATTTTAATTCTCTTTGAGCTTTCTGTTCTGGATTTCCCATCACTTCTACAATACACATGTTTCACTTTAAAAATTAAAAATTTGGATAGCTATTTTTTAAAAGAAAGTTTAATTTCTCTAAATACTAAGCCTCCGGTCTTCCAGGCCTGGAGGCAGAGGCCCCTGTTCGGCTGGAGTTGGGGAGGGGCCACACCCTCTATAAACTTTCGATCCTATTTTCAGTCTGGCTGTGGAGCCTGTCTTCTGAGGCCCCTGTGCAGAAAGGCCAAATCTGGGCAGCCTGTCACTGCAGACGCCCTCCCCCTCCACCCTACCCCCAAGAGATGGAGAAAGGATCCACTTACTATGAGGACAGCTGCAATGGGGATGGCCGTGTTCATGAAAACTGCAGAGGAAGCACAGGGAGGCGTTTAGTGGGAGGAGCGTGACAGCTACACATGGAGATGCCCAGGATGGCTTGGAGGCAGCGCAGTCCAGTGGGGCCAGCCTGTGGGGCACAGCTCCAGTAGGCTAGGGGCAGAACTCTAGCCCTGTGGCACTTCCAGTTCCTCACCCCATTTCCCTCAGGACTCTTGTCCCAGGTACCCCGGCCCCCGACTCTGGGGCTTAAACTGTTAAGTCACTCCGTGTGGACAGGGTGAAGTTAGCCCCACGGGAAAGTGGTGGGAGAAGGATGGGAGAGTTGGCTGGCTGTGGCCAACTGTGAGGTCAGGAGCACGTGTTTCTGGGGGCACAAAGCTGCCACTTCTTCCTCTGCCTTTGGCTCCTGTGTCCCCCCAAGCCAGGCTCTCTATGAAGCTTAGAGACTTCCTAGTCTCCCATGGCTCTTGAGAAAATTTCAAACTCATTCTCACTGAGGTATTAGTAACTAAGGACAGCTTAAAGCAGGATGTCCCTTAGAGTCTGTGTGCGGGTGGGGTAGCTGGTTTGCTGCAACAGAGGCCTCCTCCTTATTCTGTTAAACATGTGGCCTTTAGATCAGTCACAGGGACTCCAGGAAGAAAAGACAGTGGGACTTGGTGTGACAGAAGGGCAGAATCCCTGCTACTTATAAGCTGTGTAACCTAGGGCATGT
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Task1_train_15385
|
This variant affects gene ABCC8 (ATP binding cassette subfamily C member 8) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Diabetes mellitus, transient neonatal, 2
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TTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCTCTCCCCTGTCCAGATTTCCCTGTGGACCTGAGGAAGCACTGGAAGCTTCACTCTTCTAGTTCATTCTCTCCCATCCTGGAGGTGTGAAAGCTTTCTGGGAAGCTCAGGATTGTTTGTATTCCCCTTTCTTCTCTTTTGCTAAATGTCCAACAGGCCTGGGGCAGACAAGCCATCCCACCCTCAAGGCAAGGTTATTCTGGGGTGTAAGTGAGCTGTGGCCTGGAGTCTCCCTTTCTGTGCGCCACCCCTAGATGGGAGGGGCAGACCACCAGGCTCTGCCTTCATGCCCTGTCCAGCCTCCCTCCCCCACAGGCGGTGACTGGGAAGAGTGGAGCTGGCCCTCATCTCTTGGGGTGAAGCTTCAGGTAGTGTCCTGCGCCCACCTTCAGCCAGAGCCTGAGCTGCCTCACTGAAAAGGCCTCTGCTACTCTGGTGTTCCATTCCTGGAAACAGTGGGATCCAGAGTGTTTGAAAATATGAACGCTTTGGGATCAGTGCAACAGTTTTCAGGCAGGTGCAGCGTTCTTAAATCTGTGGTTTCTACACAGAATCATAGGGCTGGAGAGTGGGTGGTGGGAGGAGGGGTGATCTTCAGACCCCACAACACCCTGGTCAAGAAACTGAGTCAGCACAGCCGACTGTGGAAATGGGAGCTAATCCCTGTTTAACCAGCTACTGCCTGGTCAGATACTCCTTAGAGCATAATTTTGCTGAGTTATGCCCCATTCCATCTTTGAACCCATGCTAGAGTCTCCCCCTGCAAGCTACCCTCTCTATCAGCTACTTCATTCCAACAGCTACTCCTTCCTTCCAGCTTCCCAGTACCTGCCAGGGTCCCATGAGACAGGGGTGTCACCTTCCTCAAGGCTGAAGACACAGAGGACATTTGTTACTGACTGGTTCTCTGGCCATGGGTAAGGACAAGCCAGCCCTCCATAGAGGCATGACAGGCTCTTGCTTTCAAGGAGGCAGAGCTACTTCAGAGGCCCAAGGACATCTTCTCACTCCAGACAGGGCATTTCCCAGCCAAAGCCTCAGCCTTCTACCTTCAGGCTTTCATTCCCAAGAGGGCAATGCCTCTGGGACAGTGGCAGAGTCCCCATGAGGCTCTAGAGCCTGGAAGTGGGAGCCTCCAAGAGCTGTGGGCCAATCAGAGCAGGACCCAGCGCTTGGGGGAAGCTGTTTCACTGGCTGAGGCTGTGAGGGCTCAGGGGCTGTGGAAAGGGTAGGGGATACTTGGCCTGGGAAAGATAGACACAGTGGATGCCTTCTGATATCCATGGGGCAGCCACGTGGGGACGGGATGGCCTCATTCTTGGTGGCTCTGGAGGGTGAAGTTAGGACCAGTGGGTAGAATTTAGGAGGATTCCACATTTGGCTCAACACTGGTTTTTTTTTTTTTTTAAGTTGTCGTGAAAGTGACAGTGAGTCCCCTCTCCTGGGAGGTATGTAAGCAAGTCCTTGCTCAGGGATGGCGAGCTGGGAAACCATACAGGCCAATGTCCCTCTGACCAACCAGGACCAGCTACAGCAAGGCCCAGCAATGGGGGTGTGTTCCGGGACCAAACAGCTGTGGTTTGGCCATCACTCGAGCAAGCCTTGAGGCTGACACAGGACCTGCCTGCCCAGTGCCCTCGCCCGGACCCTCCCCTCACCTCACTAGAGCTTTGACGGTAGATCGGACCACACTGGACAGCAGGAACAGCGGTGTGACCAAGATATGGAAGAGGGAGAGGGAGGCAAAGGCCACGGAGGGCGAGAAGTCGGCCTCTTTGAAGAAGCTGACGTGGCCCACGAAAGTCTGTGGACAGAGGCACAAGTGAGGCCAGGGTGGCCCAGGGTGTGGGTCCCTCCCACACTGGAAACGCTCAGCACTGGAAGGGAAATGAGAGGGCTGTCAGGGAGCAGGCTCCTAAGAGGATCTTTTAGTTGGAGACACCTTCATCATCCCCACAGTCATCTCATGGAAACGTCCCCAACAAGTTCAGGACTTCAAGCTGGAGAGCAGGGGCTGCTCCCTCCCTGTCCTGGCCAAGACTCCCTGTCCTGCCCAGTCTTGGCTGGGAATAAGCAGGGAGGAGATCTCGGGTTAGGTCAGCACGGCCCCCTCTGCAGACAGCAGGCGGGGTGCTCATCTCCCCAGTCCTCATCGGGATAACGTAAACAGAGTGATTACGAAACTGCACAGTGCTTTGCCCCAGCCACCTGGCTGGCTCAGTGGCCTCTGTTACCCACAGTTCCCCCAGGAGCCAGGCCAGGAACCAGCTCAATACATCACATTGGAAGTGAATTCCCAAGTGTATCCGACAGGCTGTGAACTCTACACAGCTCAGGGACACTGGCCCCGGGGGAAATAAGCAGATCTTTTTAAGGAACTGCAGCCATCACAGAAGATGGGGATGGGAGGCTGGGTGAGGGGGCTGCAGGCTCGTAGGGGCCCAGGCCTTTCTGTAGGAGCATGCTGCTTGACCCCCATGGCTCAGCTCACACACAGCTTTTATCAAAATTGCTTTAGAAAGCCACCATCATAATATTCAGTGGCATGGAGAATTGTGTGTGGCATATTCCTAAATTTAAAAGAGCAGGTTGCAAAACTGCATGCATAGCACATTCCTATTTTTGTAGAAAATGACATATCATAGGCCTTAAAAAAAGACTGGAAAGAAACACATTAAAAATGTTACCAGTGGGATTATGGGTGATTTTAATTCTCTTTGAGCTTTCTGTTCTGGATTTCCCATCACTTCTACAATACACATGTTTCACTTTAAAAATTAAAAATTTGGATAGCTATTTTTTAAAAGAAAGTTTAATTTCTCTAAATACTAAGCCTCCGGTCTTCCAGGCCTGGAGGCAGAGGCCCCTGTTCGGCTGGAGTTGGGGAGGGGCCACACCCTCTATAAACTTTCGATCCTATTTTCAGTCTGGCTGTGGAGCCTGTCTTCTGAGGCCCCTGTGCAGAAAGGCCAAATCTGGGCAGCCTGTCACTGCAGACGCCCTCCCCCTCCACCCTACCCCCAAGAGATGGAGAAAGGATCCACTTACTATGAGGACAGCTGCAATGGGGATGGCCGTGTTCATGAAAACTGCAGAGGAAGCACAGGGAGGCGTTTAGTGGGAGGAGCGTGACAGCTACACATGGAGATGCCCAGGATGGCTTGGAGGCAGCGCAGTCCAGTGGGGCCAGCCTGTGGGGCACAGCTCCAGTAGGCTAGGGGCAGAACTCTAGCCCTGTGGCACTTCCAGTTCCTCACCCCATTTCCCTCAGGACTCTTGTCCCAGGTACCCCGGCCCCCGACTCTGGGGCTTAAACTGTTAAGTCACTCCGTGTGGACAGGGTGAAGTTAGCCCCACGGGAAAGTGGTGGGAGAAGGATGGGAGAGTTGGCTGGCTGTGGCCAACTGTGAGGTCAGGAGCACGTGTTTCTGGGGGCACAAAGCTGCCACTTCTTCCTCTGCCTTTGGCTCCTGTGTCCCCCCAAGCCAGGCTCTCTATGAAGCTTAGAGACTTCCTAGTCTCCCATGGCTCTTGAGAAAATTTCAAACTCATTCTCACTGAGGTATTAGTAACTAAGGACAGCTTAAAGCAGGATGTCCCTTAGAGTCTGTGTGCGGGTGGGGTAGCTGGTTTGCTGCAACAGAGGCCTCCTCCTTATTCTGTTAAACATGTGGCCTTTAGATCAGTCACAGGGACTCCAGGAAGAAAAGACAGTGGGACTTGGTGTGACAGAAGGGCAGAATCCCTGCTACTTATAAGCTGTGTAACCTAGGGCATGT
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TTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCTCTCCCCTGTCCAGATTTCCCTGTGGACCTGAGGAAGCACTGGAAGCTTCACTCTTCTAGTTCATTCTCTCCCATCCTGGAGGTGTGAAAGCTTTCTGGGAAGCTCAGGATTGTTTGTATTCCCCTTTCTTCTCTTTTGCTAAATGTCCAACAGGCCTGGGGCAGACAAGCCATCCCACCCTCAAGGCAAGGTTATTCTGGGGTGTAAGTGAGCTGTGGCCTGGAGTCTCCCTTTCTGTGCGCCACCCCTAGATGGGAGGGGCAGACCACCAGGCTCTGCCTTCATGCCCTGTCCAGCCTCCCTCCCCCACAGGCGGTGACTGGGAAGAGTGGAGCTGGCCCTCATCTCTTGGGGTGAAGCTTCAGGTAGTGTCCTGCGCCCACCTTCAGCCAGAGCCTGAGCTGCCTCACTGAAAAGGCCTCTGCTACTCTGGTGTTCCATTCCTGGAAACAGTGGGATCCAGAGTGTTTGAAAATATGAACGCTTTGGGATCAGTGCAACAGTTTTCAGGCAGGTGCAGCGTTCTTAAATCTGTGGTTTCTACACAGAATCATAGGGCTGGAGAGTGGGTGGTGGGAGGAGGGGTGATCTTCAGACCCCACAACACCCTGGTCAAGAAACTGAGTCAGCACAGCCGACTGTGGAAATGGGAGCTAATCCCTGTTTAACCAGCTACTGCCTGGTCAGATACTCCTTAGAGCATAATTTTGCTGAGTTATGCCCCATTCCATCTTTGAACCCATGCTAGAGTCTCCCCCTGCAAGCTACCCTCTCTATCAGCTACTTCATTCCAACAGCTACTCCTTCCTTCCAGCTTCCCAGTACCTGCCAGGGTCCCATGAGACAGGGGTGTCACCTTCCTCAAGGCTGAAGACACAGAGGACATTTGTTACTGACTGGTTCTCTGGCCATGGGTAAGGACAAGCCAGCCCTCCATAGAGGCATGACAGGCTCTTGCTTTCAAGGAGGCAGAGCTACTTCAGAGGCCCAAGGACATCTTCTCACTCCAGACAGGGCATTTCCCAGCCAAAGCCTCAGCCTTCTACCTTCAGGCTTTCATTCCCAAGAGGGCAATGCCTCTGGGACAGTGGCAGAGTCCCCATGAGGCTCTAGAGCCTGGAAGTGGGAGCCTCCAAGAGCTGTGGGCCAATCAGAGCAGGACCCAGCGCTTGGGGGAAGCTGTTTCACTGGCTGAGGCTGTGAGGGCTCAGGGGCTGTGGAAAGGGTAGGGGATACTTGGCCTGGGAAAGATAGACACAGTGGATGCCTTCTGATATCCATGGGGCAGCCACGTGGGGACGGGATGGCCTCATTCTTGGTGGCTCTGGAGGGTGAAGTTAGGACCAGTGGGTAGAATTTAGGAGGATTCCACATTTGGCTCAACACTGGTTTTTTTTTTTTTTTAAGTTGTCGTGAAAGTGACAGTGAGTCCCCTCTCCTGGGAGGTATGTAAGCAAGTCCTTGCTCAGGGATGGCGAGCTGGGAAACCATACAGGCCAATGTCCCTCTGACCAACCAGGACCAGCTACAGCAAGGCCCAGCAATGGGGGTGTGTTCCGGGACCAAACAGCTGTGGTTTGGCCATCACTCGAGCAAGCCTTGAGGCTGACACAGGACCTGCCTGCCCAGTGCCCTCGCCCGGACCCTCCCCTCACCTCACTAGAGCTTTGACGGTAGATCGGACCACACTGGACAGCAGGAACAGCGGTGTGACCAAGATATGGAAGACGGAGAGGGAGGCAAAGGCCACGGAGGGCGAGAAGTCGGCCTCTTTGAAGAAGCTGACGTGGCCCACGAAAGTCTGTGGACAGAGGCACAAGTGAGGCCAGGGTGGCCCAGGGTGTGGGTCCCTCCCACACTGGAAACGCTCAGCACTGGAAGGGAAATGAGAGGGCTGTCAGGGAGCAGGCTCCTAAGAGGATCTTTTAGTTGGAGACACCTTCATCATCCCCACAGTCATCTCATGGAAACGTCCCCAACAAGTTCAGGACTTCAAGCTGGAGAGCAGGGGCTGCTCCCTCCCTGTCCTGGCCAAGACTCCCTGTCCTGCCCAGTCTTGGCTGGGAATAAGCAGGGAGGAGATCTCGGGTTAGGTCAGCACGGCCCCCTCTGCAGACAGCAGGCGGGGTGCTCATCTCCCCAGTCCTCATCGGGATAACGTAAACAGAGTGATTACGAAACTGCACAGTGCTTTGCCCCAGCCACCTGGCTGGCTCAGTGGCCTCTGTTACCCACAGTTCCCCCAGGAGCCAGGCCAGGAACCAGCTCAATACATCACATTGGAAGTGAATTCCCAAGTGTATCCGACAGGCTGTGAACTCTACACAGCTCAGGGACACTGGCCCCGGGGGAAATAAGCAGATCTTTTTAAGGAACTGCAGCCATCACAGAAGATGGGGATGGGAGGCTGGGTGAGGGGGCTGCAGGCTCGTAGGGGCCCAGGCCTTTCTGTAGGAGCATGCTGCTTGACCCCCATGGCTCAGCTCACACACAGCTTTTATCAAAATTGCTTTAGAAAGCCACCATCATAATATTCAGTGGCATGGAGAATTGTGTGTGGCATATTCCTAAATTTAAAAGAGCAGGTTGCAAAACTGCATGCATAGCACATTCCTATTTTTGTAGAAAATGACATATCATAGGCCTTAAAAAAAGACTGGAAAGAAACACATTAAAAATGTTACCAGTGGGATTATGGGTGATTTTAATTCTCTTTGAGCTTTCTGTTCTGGATTTCCCATCACTTCTACAATACACATGTTTCACTTTAAAAATTAAAAATTTGGATAGCTATTTTTTAAAAGAAAGTTTAATTTCTCTAAATACTAAGCCTCCGGTCTTCCAGGCCTGGAGGCAGAGGCCCCTGTTCGGCTGGAGTTGGGGAGGGGCCACACCCTCTATAAACTTTCGATCCTATTTTCAGTCTGGCTGTGGAGCCTGTCTTCTGAGGCCCCTGTGCAGAAAGGCCAAATCTGGGCAGCCTGTCACTGCAGACGCCCTCCCCCTCCACCCTACCCCCAAGAGATGGAGAAAGGATCCACTTACTATGAGGACAGCTGCAATGGGGATGGCCGTGTTCATGAAAACTGCAGAGGAAGCACAGGGAGGCGTTTAGTGGGAGGAGCGTGACAGCTACACATGGAGATGCCCAGGATGGCTTGGAGGCAGCGCAGTCCAGTGGGGCCAGCCTGTGGGGCACAGCTCCAGTAGGCTAGGGGCAGAACTCTAGCCCTGTGGCACTTCCAGTTCCTCACCCCATTTCCCTCAGGACTCTTGTCCCAGGTACCCCGGCCCCCGACTCTGGGGCTTAAACTGTTAAGTCACTCCGTGTGGACAGGGTGAAGTTAGCCCCACGGGAAAGTGGTGGGAGAAGGATGGGAGAGTTGGCTGGCTGTGGCCAACTGTGAGGTCAGGAGCACGTGTTTCTGGGGGCACAAAGCTGCCACTTCTTCCTCTGCCTTTGGCTCCTGTGTCCCCCCAAGCCAGGCTCTCTATGAAGCTTAGAGACTTCCTAGTCTCCCATGGCTCTTGAGAAAATTTCAAACTCATTCTCACTGAGGTATTAGTAACTAAGGACAGCTTAAAGCAGGATGTCCCTTAGAGTCTGTGTGCGGGTGGGGTAGCTGGTTTGCTGCAACAGAGGCCTCCTCCTTATTCTGTTAAACATGTGGCCTTTAGATCAGTCACAGGGACTCCAGGAAGAAAAGACAGTGGGACTTGGTGTGACAGAAGGGCAGAATCCCTGCTACTTATAAGCTGTGTAACCTAGGGCATGT
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Task1_train_15386
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A variant was discovered in gene ABCC8 (ATP binding cassette subfamily C member 8), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Diabetes mellitus, permanent neonatal 3
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ATTAAAAAACCATTTTTGGCTCTTTTGGCATAATTGGAAAATGTAATTTATGACATACACACATTAGTATATTTAATTACAAAACTGCCCAACCACAAAAGTGGCTGTTGCTTGTGGTGGTGCAAGTCTGCCTGTCACTGGAGGGGTGTGAGGAGAGGCTGGGATTTCTAGAGAAGTTTTCTGAACTGAGCAACAGCTTGGTTCCTCCCAGCTCTGGGCCCCCATGAGTCTTAGAAGGTCTTAGATTTTCCTGGGCTTTTTCCACTATTGTCACATAATGACATCCCTGAGGAAATACTCTGCTTTCCCAGTGAGAAACCACTGGGGATGGGCAGGGTTGCCATATATAGCTGCACAGGTTGTGCACTGCACAACTTGGGAGGGCACCGTTCACACAGACTATTCCAAGATAGCCAGAGTTTGGACTCTGACATTGTCCCCAGCCCAAGCTATATCCTTGTCCTCTCGGTCCCTTTTCTGCAGAGCTTCTTCTCCTGTCTCCCACATGACTAATGTTAATGATTCTGAGGAACATTTCCAAAGAACAAGGTAGCTTCAGGATTTTACCACAACTTCATGGACATCACTAGGCATAGCTGCATCTAGTTATTCCCAATGCCCATTCTCCTCTTTGCACAGAGAATTTCTAGCAGTGCATATATAGCTGTCAAGAATAAAGACCAAGCTCTTTCTAGACTCTCTAGATACGGCCATTTGGCCACTTTCTCACCAATGGGATGCGAGAGGGTATGTGCAAATCAGGTATTACCATTTTAAAAGGAAAATGCGTTCCCTCCTCTTGTCCCTTCTTCTGGCTAGTTTAAATGTAAATATAGTGGCAGTTTCAATACCCACCATGGCTATGGAGACAAAAGTCACAAAAGAAGGCTGGCAGAGCAACATGACAGAAGAAGCCAGGTCTCTGATCATTGAGTAGCTCCTGTGTCAGCCCTGACTCTATCTGAAGAATAAACAAACTTCTATCCCATTTAAACTACTCTCAATCAGGATGTCTCTCTAGTCTGATAGCTGAACCAAAATCCTAGTGAAGACCCTGGGACTTGGACAACTCTCATCATCACCTTCTTCAGAGGGGCCCTGAACACTCCCTGGCTTTGATCATCTTTCCAGAAACTCTAAGAAGGAAATCACAGAAGGCAGGACCAAGAGCCTAGACTTAAGTGACCCAACAGACCAAATAGGTCACTCTCATTAGTGAGCAAGACTTAAGGGTTCAAATAGAACTTAGAGCAGTGGTCCTCAACCTTTTTGGCACCAGGGACTGGTTTCGTGGAAGACAATTTTTCCATGGACCTGGGGGAGAGGGATGGTTTCAGGATGAAACTGTTCCACTTCAGATCATCAGGCATTAGATTCTCATAAGGAACACACAACCTAGACCCTTGCCTGCACAGTTCACAATAGGGTTCGCACTCCTATGAGAGTCTAATGTAGCCGCTGATCTGACAGGAGGCAGAGCTCAGGTAGTAATGCTTGCTCCCACTGCTTACCTCCTGATGTGTGGCTCAGTTCCTAACAGGCCATGGACCAATACCCCATCTTAGAGGGGACCCTGTCTTAGAGGCTATCTAGACCTTGTATGTCAAGCACATTCCTTTTTTCACACCCAAAGAAGACTGTCTGGTAGCAGAACTCTGGAACAGCCACTTAGAGAGGATTCCAAGGTTGCATTTACCCTTGGTCAGAAAGAGTGCTGTGATCAATTAGTGACGTCTACCACTTTCAAGCCAAGGGCTGAGCAGCTGGATTTTCAGACCCAGTCCAAGGCAGAACCAGAGCCAGAGCTACACTGTCTCCCAAGTTCAGCCCAAGATATTTTCCACTATCCCACACTGCCTTGTCAATGGTTACTGTTTTAAAACATCGTTAATGGGCAACAAAAAATAAATTTACAGCAGAATTATTCTTGAGTGTCCATGAGGATGAATAACACTCATGGACATTATTCCTAATAATGGTTCTTATGGCAAAGTGAAAAAATAATCATCCAAGTACCTGTATTGCTCCTCTCAAGTTAATTCCAGTTTCAATGGCCACATAGTAGGATGCTTGCAGAAATGTCCTTTGCAGTAGGAGGGCAAGGAACAGAAGCACAGCTAAGACGTAGGCATTGGCAAGGAACTCTTGGGATGAGACAAAGTAAACCCCGAGAAATTGTGTCTGTTGGAAAGAGAAGTTCAGAGGTGACTGTCATTGCCAGCAAAATGACCACCGTAGAACACATCACTGTGCCATAATGGACCACGGCCATCATTATTACAAGACCCTCTGGGCTTGCAAAGGCTTGTGCAATTGTTTATGAGTGAAAAATCAGACTGATAAATCCAACTAAACGTTTTTCTAACTACAGGGAAGGTTGCTTACACCCTGTTCATCTTTCCACTTGGGGGAACAGAATGGGGCCCAATTACAACTGCAGGCCCATAAATATGACTCTTAGCATTGTGGCCACAGACCCAGGGGAGAGCATTCTGAATGGGGCAAGAATAAATAGAGCACCTAAAACCTGAACTGGTACAACAAGTCTCACGGTGCATGTTCTCTGCTACAGAAATGGAATCAGCAGCTCCCTTGTTCCGAACTTACCAACAGCCTGTAATGTAGCAATTACTGAGCAGAAAAGGCCAGTGGAAAACATGGCACCGTAGAGCTCTCAGGAGAGAATGAGAGCTCATCACTTACAAGAGACTGAAAAGATTTCAGACCCAAGCCCGCCAGCCTCATGGGCTCCCAGGGCCTCCTGTTAAATTTAAGGTTCTCTTGTGTACTTCCGGCAAGATCTCAGATGGCAACCAGTGAAGAAAAACAAACATTTTAACTTTGTTGCTAAAGATACCAGGGATCAACAGTGTGTCTATTTCCAAATTAAGCATCAATAACTCCCAGGAAAACTTTGATCTTGATAAATCCATTGCTCCCCAGCAGAGCCACATCAATATTTCCATGAAGACAGATCTCTGCTCTTTCTCAGACACTGCCCTGGACTGTGCATCCTGTTTGGCAGGGTGTGGGAGCTGCTGCAGGGTAAAGAGGGATGGAACAAAGTGATGAGAAGGAGTTTGAGGGCACATCCACAATCAGAATCAGGCAGAGAGGGCCCAGGCTCTCATTGGAGGCCTTTCCCTAGAGTCAGGGATTCCTGGATCTTGGATCAGAGCTTCCTGATGGTGGCCTCTCAGTTTAACAGAGGTTCTCTAAGCCAGCCCTCACTGCTCCCTGGAGCTGTCTGGTCCTGCTCACCACTGTCTCTACCATGATCTGTGCGACAGGGGTCTGTATCTGTTGGTGGCAGCAGGAAGCAGCCACAGGGAGACCACTGAGGGATGCGTGCAAGACTCTAAGAGGAAGGCCCTACCGAGGCTCTCTGTCCCATTTGCCAGTGCACCAGAGGGAGAGGCAGAGGGAGGAGGTCGAAGGTAGAAGGGCAGGGGTGGGCTGGAAGCAGAAAAATGGGCCTTAAAATTAGGCTGCAGGGAGAGACCTGAATTTCCAGGGGAGGAAGGGGCAGGAGACAATATTTATCAGGTGCAAAACTCTATCCTCACAATACCCTAATGAGGAGGGTACCATTATTAGCCCCATTTCATACATGAAAAAAAGGAGTTTCAGTAGGGTTAGTGGCTGGCCCAAGGTCACATGCTGGTAAGGGGACAACATGTGAACATGAACCTGAGTGATGTCAAAAACACTACCCCAGACCCACTGTCTAGGCCTCGTCCAGGCCTTTGACCTTAAGCATCCTAGTGTCAGTTACAGGTTTGTGACTTGTGGGGGATGGAAACTTGCCCCCCTGGCTGGTACTGGGTCAGAAATATAGGCATGTGGGTTTAGGAAGACCCGGTCCTTTTTAACATGCCCTGGGATTCTTCTGTCCCACTGTCCTCTGCAGAGACGCAGCTCTGGAGACTGGAGTCCACTATTTTAAAGCAACAACACATCATGAGAATTTATCCCAAAGAAAATAATTTCACATAAGGTAATAGCTGTATGAACACAGACATTTATTTTGGGGTCAGAGCAGAAGGAGAATGCAAAAACCCATATAAATTTCCAACCACAGGGAATGGTTAGGTAA
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ATTAAAAAACCATTTTTGGCTCTTTTGGCATAATTGGAAAATGTAATTTATGACATACACACATTAGTATATTTAATTACAAAACTGCCCAACCACAAAAGTGGCTGTTGCTTGTGGTGGTGCAAGTCTGCCTGTCACTGGAGGGGTGTGAGGAGAGGCTGGGATTTCTAGAGAAGTTTTCTGAACTGAGCAACAGCTTGGTTCCTCCCAGCTCTGGGCCCCCATGAGTCTTAGAAGGTCTTAGATTTTCCTGGGCTTTTTCCACTATTGTCACATAATGACATCCCTGAGGAAATACTCTGCTTTCCCAGTGAGAAACCACTGGGGATGGGCAGGGTTGCCATATATAGCTGCACAGGTTGTGCACTGCACAACTTGGGAGGGCACCGTTCACACAGACTATTCCAAGATAGCCAGAGTTTGGACTCTGACATTGTCCCCAGCCCAAGCTATATCCTTGTCCTCTCGGTCCCTTTTCTGCAGAGCTTCTTCTCCTGTCTCCCACATGACTAATGTTAATGATTCTGAGGAACATTTCCAAAGAACAAGGTAGCTTCAGGATTTTACCACAACTTCATGGACATCACTAGGCATAGCTGCATCTAGTTATTCCCAATGCCCATTCTCCTCTTTGCACAGAGAATTTCTAGCAGTGCATATATAGCTGTCAAGAATAAAGACCAAGCTCTTTCTAGACTCTCTAGATACGGCCATTTGGCCACTTTCTCACCAATGGGATGCGAGAGGGTATGTGCAAATCAGGTATTACCATTTTAAAAGGAAAATGCGTTCCCTCCTCTTGTCCCTTCTTCTGGCTAGTTTAAATGTAAATATAGTGGCAGTTTCAATACCCACCATGGCTATGGAGACAAAAGTCACAAAAGAAGGCTGGCAGAGCAACATGACAGAAGAAGCCAGGTCTCTGATCATTGAGTAGCTCCTGTGTCAGCCCTGACTCTATCTGAAGAATAAACAAACTTCTATCCCATTTAAACTACTCTCAATCAGGATGTCTCTCTAGTCTGATAGCTGAACCAAAATCCTAGTGAAGACCCTGGGACTTGGACAACTCTCATCATCACCTTCTTCAGAGGGGCCCTGAACACTCCCTGGCTTTGATCATCTTTCCAGAAACTCTAAGAAGGAAATCACAGAAGGCAGGACCAAGAGCCTAGACTTAAGTGACCCAACAGACCAAATAGGTCACTCTCATTAGTGAGCAAGACTTAAGGGTTCAAATAGAACTTAGAGCAGTGGTCCTCAACCTTTTTGGCACCAGGGACTGGTTTCGTGGAAGACAATTTTTCCATGGACCTGGGGGAGAGGGATGGTTTCAGGATGAAACTGTTCCACTTCAGATCATCAGGCATTAGATTCTCATAAGGAACACACAACCTAGACCCTTGCCTGCACAGTTCACAATAGGGTTCGCACTCCTATGAGAGTCTAATGTAGCCGCTGATCTGACAGGAGGCAGAGCTCAGGTAGTAATGCTTGCTCCCACTGCTTACCTCCTGATGTGTGGCTCAGTTCCTAACAGGCCATGGACCAATACCCCATCTTAGAGGGGACCCTGTCTTAGAGGCTATCTAGACCTTGTATGTCAAGCACATTCCTTTTTTCACACCCAAAGAAGACTGTCTGGTAGCAGAACTCTGGAACAGCCACTTAGAGAGGATTCCAAGGTTGCATTTACCCTTGGTCAGAAAGAGTGCTGTGATCAATTAGTGACGTCTACCACTTTCAAGCCAAGGGCTGAGCAGCTGGATTTTCAGACCCAGTCCAAGGCAGAACCAGAGCCAGAGCTACACTGTCTCCCAAGTTCAGCCCAAGATATTTTCCACTATCCCACACTGCCTTGTCAATGGTTACTGTTTTAAAACATCGTTAATGGGCAACAAAAAATAAATTTACAGCAGAATTATTCTTGAGTGTCCATGAGGATGAATAACACTCATGGACATTATTCCTAATAATGGTTCTTATGGCAAAGTGAAAAAATAATCATCCAAGTACCTGTATTGCTCCTCTCAAGTTAATTCCAGTTTTAATGGCCACATAGTAGGATGCTTGCAGAAATGTCCTTTGCAGTAGGAGGGCAAGGAACAGAAGCACAGCTAAGACGTAGGCATTGGCAAGGAACTCTTGGGATGAGACAAAGTAAACCCCGAGAAATTGTGTCTGTTGGAAAGAGAAGTTCAGAGGTGACTGTCATTGCCAGCAAAATGACCACCGTAGAACACATCACTGTGCCATAATGGACCACGGCCATCATTATTACAAGACCCTCTGGGCTTGCAAAGGCTTGTGCAATTGTTTATGAGTGAAAAATCAGACTGATAAATCCAACTAAACGTTTTTCTAACTACAGGGAAGGTTGCTTACACCCTGTTCATCTTTCCACTTGGGGGAACAGAATGGGGCCCAATTACAACTGCAGGCCCATAAATATGACTCTTAGCATTGTGGCCACAGACCCAGGGGAGAGCATTCTGAATGGGGCAAGAATAAATAGAGCACCTAAAACCTGAACTGGTACAACAAGTCTCACGGTGCATGTTCTCTGCTACAGAAATGGAATCAGCAGCTCCCTTGTTCCGAACTTACCAACAGCCTGTAATGTAGCAATTACTGAGCAGAAAAGGCCAGTGGAAAACATGGCACCGTAGAGCTCTCAGGAGAGAATGAGAGCTCATCACTTACAAGAGACTGAAAAGATTTCAGACCCAAGCCCGCCAGCCTCATGGGCTCCCAGGGCCTCCTGTTAAATTTAAGGTTCTCTTGTGTACTTCCGGCAAGATCTCAGATGGCAACCAGTGAAGAAAAACAAACATTTTAACTTTGTTGCTAAAGATACCAGGGATCAACAGTGTGTCTATTTCCAAATTAAGCATCAATAACTCCCAGGAAAACTTTGATCTTGATAAATCCATTGCTCCCCAGCAGAGCCACATCAATATTTCCATGAAGACAGATCTCTGCTCTTTCTCAGACACTGCCCTGGACTGTGCATCCTGTTTGGCAGGGTGTGGGAGCTGCTGCAGGGTAAAGAGGGATGGAACAAAGTGATGAGAAGGAGTTTGAGGGCACATCCACAATCAGAATCAGGCAGAGAGGGCCCAGGCTCTCATTGGAGGCCTTTCCCTAGAGTCAGGGATTCCTGGATCTTGGATCAGAGCTTCCTGATGGTGGCCTCTCAGTTTAACAGAGGTTCTCTAAGCCAGCCCTCACTGCTCCCTGGAGCTGTCTGGTCCTGCTCACCACTGTCTCTACCATGATCTGTGCGACAGGGGTCTGTATCTGTTGGTGGCAGCAGGAAGCAGCCACAGGGAGACCACTGAGGGATGCGTGCAAGACTCTAAGAGGAAGGCCCTACCGAGGCTCTCTGTCCCATTTGCCAGTGCACCAGAGGGAGAGGCAGAGGGAGGAGGTCGAAGGTAGAAGGGCAGGGGTGGGCTGGAAGCAGAAAAATGGGCCTTAAAATTAGGCTGCAGGGAGAGACCTGAATTTCCAGGGGAGGAAGGGGCAGGAGACAATATTTATCAGGTGCAAAACTCTATCCTCACAATACCCTAATGAGGAGGGTACCATTATTAGCCCCATTTCATACATGAAAAAAAGGAGTTTCAGTAGGGTTAGTGGCTGGCCCAAGGTCACATGCTGGTAAGGGGACAACATGTGAACATGAACCTGAGTGATGTCAAAAACACTACCCCAGACCCACTGTCTAGGCCTCGTCCAGGCCTTTGACCTTAAGCATCCTAGTGTCAGTTACAGGTTTGTGACTTGTGGGGGATGGAAACTTGCCCCCCTGGCTGGTACTGGGTCAGAAATATAGGCATGTGGGTTTAGGAAGACCCGGTCCTTTTTAACATGCCCTGGGATTCTTCTGTCCCACTGTCCTCTGCAGAGACGCAGCTCTGGAGACTGGAGTCCACTATTTTAAAGCAACAACACATCATGAGAATTTATCCCAAAGAAAATAATTTCACATAAGGTAATAGCTGTATGAACACAGACATTTATTTTGGGGTCAGAGCAGAAGGAGAATGCAAAAACCCATATAAATTTCCAACCACAGGGAATGGTTAGGTAA
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Task1_train_15387
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A variant was discovered on Chromosome 11, affecting ABCC8 (ATP binding cassette subfamily C member 8). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Inborn genetic diseases
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GGTGTGGACACTCTGATAAGGGCTCTGGCCTGTGCCATTTCCCCCTGATATTAACAACTGGCTCCATGCTGCTTCAGGATCGCCAATGGGGGTATTCTGGGGTAGCCTATGGTCAGGCTAGAGCCAAAGGTGACACTCCTGTAGACAAGAGAAGCAGCCGCTTCCCCTCTCTTTTATGGGCCAGGTAAAGTAGAGAGGCTCAAAAAGCCAGATATGGCTTCAAAAGCCATCAAAGTTTAAATAAGCAAAAGTGGTCCTTGCATTCTTGGTTGAGCAAGAAATCTTCCCATGGCAGCCTGGCAAATTCCTACTCATCCGTCAAGACCCCTTTCAAACATCCCCTCCTCTATGAAGCTGTTCATGACCACTGGCTAAGTTAATCACTATCTTTTCCCACAATTCCCTGAATATTCCTCCTAAGAGTCACATGTAACACATAGCATAAAAGTATTTTATTTTGATTTCTCTCCTCACTGTTGGATTTCATAATCCTTGGAGCCAGAGGTGATGGCTTGATAATAATAGTCAATTTAGCTTCCTGGCTGTAAATGCCCAGACTGTGGAGTGAGTCTTGTGTTCAAATTCTGCCTCTGTTATTAACTAGCTGAGAGACCCTGGGGAAAATTACTTAAACTTTCTGAGCCTCAACTTTCTCATCTGTAAAATGGGGATAAGAATACCTATCATCTCATAAACTGTACAGTATTTGAGGTATACCACAGTAAAGATGTTGCAAAATATACTCACGCCAAAGGATAGTTTTAGGGATTAAATAACACATGGATAACTCCTGCACACAGCCAGGTATGTATTATGTGGTCAGTAAGTGGCTGTTAATATTGTTAATCATCCTCATCATAACTATTGCTTTCATATTCCCACAGCCCAACCCAGGCCTGGCACACAGCAGTGTTCAATGAAAGTTTGCTGCATAAATCAGACTCAACGTATCTCATATCTGTGGCCAAAACTGTTCAGCTGACTAATTATGTCTCCAGAAAAATGAACATAAACCTCCTGAGGATTAACTGCTGGCTGCGATTTTGGAGCTCATGAGATGAACAAATGTTACGCAAAGGGTGTCATAAATTATTAAAAACCCTAATTCCCCATTCTCTGCATTATTTTCAGACTGTCTGTGGTTAAAATGTTATAATGACATCCTCACTTGGAAACTAAAACTCTGAAACTTATTAGGGGTGAAAAAGTTTTCATTTTGTGGCCATTTAAACCTAAACGGCTGCAAGGAAACAGACAACAGAGCACAGTCTGCCCAGCCCCCGAAGTGGATGCTACGGCCCCACGCAGGGCAAATAACCCCGGGGAAAGGTTTTCTAGCTCCAACAAATTTCAGTTTGCAGAATCGTTACAACTGCCAAGGCCATTGGATATAATCTAGTCTAATAAGTCTCCAGTGTTTTTTAAGCCATGGAAACTTTTCTTAAAAAAGAAATTTTAATGGAAAAGTCCAACATATTAATAAAACTACGGGCAGCTTTGAATGAAATTTGGAGTGGGGAGAGACAAAGCTCCACTCGTGAGGGTTTCCCACTTCTCTCTCCTCTGACAGTAGCTCCCAAGATGCCCCTGCAGAAAGCTCAAGTGCCAGCCTTTACAGGACTGAAGAAGACAGATCTTGAAAACTTTTAAAGAGTTTACTAAGATGACATGAACTGAAAGCCAACAAATCCAAGTCACAGAAGCTCTAGACACTGGACAAACAAAAGCACTTCCTGCAGTTTTCGGACTGACCTAACTACCGGGAGAGGTACTATGGTAGTGACGGTGAGAGGAGAGTAGGATACCCTTGGGGCATAGGCTCGCCCTCTGGCATTTCTGTTGACCAGATGTAGAGTATTCTGTGGTGGGGATACTGCTATGGGCTTTGCGCATGTGTGAGGAGCCACTCCAGTGTGGCCATGGCTCACACACATTGGCCTGTTGCACTCTCAGAAACAACTGAAAACCATCTAGAGGGTGCCTTACCCTACCCCTGGGGCTGCCTACCTTGGGCTGGAAGACGTCGTTCTCCTTCCCAAGGTGGTCCACGATCCCAAAGATGCACAGTGGCCCGGCGAAGCCCAGCAGGTCGGCCAAGATGCGGAAAGTGCTGCTGAGGACCAGGCGCCTCCCGAAGGCATGGCTGAGTGCCTGCCAGATGGCCCGGGCACCTTGAGTGCCCTGAATGTCCTTCCGCTGCCCAGAGAGACCATGGCCAGGTCAGAGTGCCTGAGGGCTAATTCACGGCTGGGCCTAGCCTCCCAGGATGCCCCTAGCTCCTGTTGTCTGGGGAAACCCAGTGGTCACATCCTCTGCAAATAGGTGAACTCCAGGAAGAGATCATGGAATCAGCAAGTGCACAGTTGGGAGGGCCCTATCAACACCAACATGGTCTAGATGGGGAAACTAAGGCCAGATGATTGCTCAAGGTCACACAGCTGGTCAGGGACTATGTGATGAGCACAGCACTGGAATGAGGAGGTGGCCATGTGCCACACTCACTCATTACCACCTGCCACCGTGTCTGCCTCAGCAACTGCCCTGGTGCGAGGGCAGAGGAAGTGAAGGAGCACTGGACTGGGAGCCAGGAGACTGCCTCTGCCGCCTGCCAGCTGTGGCCAGCTCTGGGCAGGTCACAGCCTTTCTCAGGGCCTCAATTTGCTCCTCAGTGATATGGGGAGATTCCTGTCTGGCTCAACTCATAGAGTTACCATAAGGATCAGGCCACTAACACCCCTGCTCCAAATCAAGTGAACACTCCAACCTTTATAGTCAGTAAGCTGCAGAGGAAAGAGCACAGGGATGTGAGAGTCCAGTGGGGTCACTTCCCTTCTCAGAGCCTCAGTTTCCCCATCTGGATAAGGACTTTGGACTAGACGACCTAAACGGTAAGGGCCATTCCAACTGTGCCTGTCCTATGAATCCTCAGCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCA
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GGTGTGGACACTCTGATAAGGGCTCTGGCCTGTGCCATTTCCCCCTGATATTAACAACTGGCTCCATGCTGCTTCAGGATCGCCAATGGGGGTATTCTGGGGTAGCCTATGGTCAGGCTAGAGCCAAAGGTGACACTCCTGTAGACAAGAGAAGCAGCCGCTTCCCCTCTCTTTTATGGGCCAGGTAAAGTAGAGAGGCTCAAAAAGCCAGATATGGCTTCAAAAGCCATCAAAGTTTAAATAAGCAAAAGTGGTCCTTGCATTCTTGGTTGAGCAAGAAATCTTCCCATGGCAGCCTGGCAAATTCCTACTCATCCGTCAAGACCCCTTTCAAACATCCCCTCCTCTATGAAGCTGTTCATGACCACTGGCTAAGTTAATCACTATCTTTTCCCACAATTCCCTGAATATTCCTCCTAAGAGTCACATGTAACACATAGCATAAAAGTATTTTATTTTGATTTCTCTCCTCACTGTTGGATTTCATAATCCTTGGAGCCAGAGGTGATGGCTTGATAATAATAGTCAATTTAGCTTCCTGGCTGTAAATGCCCAGACTGTGGAGTGAGTCTTGTGTTCAAATTCTGCCTCTGTTATTAACTAGCTGAGAGACCCTGGGGAAAATTACTTAAACTTTCTGAGCCTCAACTTTCTCATCTGTAAAATGGGGATAAGAATACCTATCATCTCATAAACTGTACAGTATTTGAGGTATACCACAGTAAAGATGTTGCAAAATATACTCACGCCAAAGGATAGTTTTAGGGATTAAATAACACATGGATAACTCCTGCACACAGCCAGGTATGTATTATGTGGTCAGTAAGTGGCTGTTAATATTGTTAATCATCCTCATCATAACTATTGCTTTCATATTCCCACAGCCCAACCCAGGCCTGGCACACAGCAGTGTTCAATGAAAGTTTGCTGCATAAATCAGACTCAACGTATCTCATATCTGTGGCCAAAACTGTTCAGCTGACTAATTATGTCTCCAGAAAAATGAACATAAACCTCCTGAGGATTAACTGCTGGCTGCGATTTTGGAGCTCATGAGATGAACAAATGTTACGCAAAGGGTGTCATAAATTATTAAAAACCCTAATTCCCCATTCTCTGCATTATTTTCAGACTGTCTGTGGTTAAAATGTTATAATGACATCCTCACTTGGAAACTAAAACTCTGAAACTTATTAGGGGTGAAAAAGTTTTCATTTTGTGGCCATTTAAACCTAAACGGCTGCAAGGAAACAGACAACAGAGCACAGTCTGCCCAGCCCCCGAAGTGGATGCTACGGCCCCACGCAGGGCAAATAACCCCGGGGAAAGGTTTTCTAGCTCCAACAAATTTCAGTTTGCAGAATCGTTACAACTGCCAAGGCCATTGGATATAATCTAGTCTAATAAGTCTCCAGTGTTTTTTAAGCCATGGAAACTTTTCTTAAAAAAGAAATTTTAATGGAAAAGTCCAACATATTAATAAAACTACGGGCAGCTTTGAATGAAATTTGGAGTGGGGAGAGACAAAGCTCCACTCGTGAGGGTTTCCCACTTCTCTCTCCTCTGACAGTAGCTCCCAAGATGCCCCTGCAGAAAGCTCAAGTGCCAGCCTTTACAGGACTGAAGAAGACAGATCTTGAAAACTTTTAAAGAGTTTACTAAGATGACATGAACTGAAAGCCAACAAATCCAAGTCACAGAAGCTCTAGACACTGGACAAACAAAAGCACTTCCTGCAGTTTTCGGACTGACCTAACTACCGGGAGAGGTACTATGGTAGTGACGGTGAGAGGAGAGTAGGATACCCTTGGGGCATAGGCTCGCCCTCTGGCATTTCTGTTGACCAGATGTAGAGTATTCTGTGGTGGGGATACTGCTATGGGCTTTGCGCATGTGTGAGGAGCCACTCCAGTGTGGCCATGGCTCACACACATTGGCCTGTTGCACTCTCAGAAACAACTGAAAACCATCTAGAGGGTGCCTTACCCTACCCCTGGGGCTGCCTACCTTGGGCTGGAAGACGTCGTTCTCCTTCCCAAGGTGGTCCATGATCCCAAAGATGCACAGTGGCCCGGCGAAGCCCAGCAGGTCGGCCAAGATGCGGAAAGTGCTGCTGAGGACCAGGCGCCTCCCGAAGGCATGGCTGAGTGCCTGCCAGATGGCCCGGGCACCTTGAGTGCCCTGAATGTCCTTCCGCTGCCCAGAGAGACCATGGCCAGGTCAGAGTGCCTGAGGGCTAATTCACGGCTGGGCCTAGCCTCCCAGGATGCCCCTAGCTCCTGTTGTCTGGGGAAACCCAGTGGTCACATCCTCTGCAAATAGGTGAACTCCAGGAAGAGATCATGGAATCAGCAAGTGCACAGTTGGGAGGGCCCTATCAACACCAACATGGTCTAGATGGGGAAACTAAGGCCAGATGATTGCTCAAGGTCACACAGCTGGTCAGGGACTATGTGATGAGCACAGCACTGGAATGAGGAGGTGGCCATGTGCCACACTCACTCATTACCACCTGCCACCGTGTCTGCCTCAGCAACTGCCCTGGTGCGAGGGCAGAGGAAGTGAAGGAGCACTGGACTGGGAGCCAGGAGACTGCCTCTGCCGCCTGCCAGCTGTGGCCAGCTCTGGGCAGGTCACAGCCTTTCTCAGGGCCTCAATTTGCTCCTCAGTGATATGGGGAGATTCCTGTCTGGCTCAACTCATAGAGTTACCATAAGGATCAGGCCACTAACACCCCTGCTCCAAATCAAGTGAACACTCCAACCTTTATAGTCAGTAAGCTGCAGAGGAAAGAGCACAGGGATGTGAGAGTCCAGTGGGGTCACTTCCCTTCTCAGAGCCTCAGTTTCCCCATCTGGATAAGGACTTTGGACTAGACGACCTAAACGGTAAGGGCCATTCCAACTGTGCCTGTCCTATGAATCCTCAGCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCA
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Task1_train_15388
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A variant has been detected on Chromosome 11 in ABCC8 (ATP binding cassette subfamily C member 8). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Diabetes mellitus, permanent neonatal 3
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GGCTGCAAGGAAACAGACAACAGAGCACAGTCTGCCCAGCCCCCGAAGTGGATGCTACGGCCCCACGCAGGGCAAATAACCCCGGGGAAAGGTTTTCTAGCTCCAACAAATTTCAGTTTGCAGAATCGTTACAACTGCCAAGGCCATTGGATATAATCTAGTCTAATAAGTCTCCAGTGTTTTTTAAGCCATGGAAACTTTTCTTAAAAAAGAAATTTTAATGGAAAAGTCCAACATATTAATAAAACTACGGGCAGCTTTGAATGAAATTTGGAGTGGGGAGAGACAAAGCTCCACTCGTGAGGGTTTCCCACTTCTCTCTCCTCTGACAGTAGCTCCCAAGATGCCCCTGCAGAAAGCTCAAGTGCCAGCCTTTACAGGACTGAAGAAGACAGATCTTGAAAACTTTTAAAGAGTTTACTAAGATGACATGAACTGAAAGCCAACAAATCCAAGTCACAGAAGCTCTAGACACTGGACAAACAAAAGCACTTCCTGCAGTTTTCGGACTGACCTAACTACCGGGAGAGGTACTATGGTAGTGACGGTGAGAGGAGAGTAGGATACCCTTGGGGCATAGGCTCGCCCTCTGGCATTTCTGTTGACCAGATGTAGAGTATTCTGTGGTGGGGATACTGCTATGGGCTTTGCGCATGTGTGAGGAGCCACTCCAGTGTGGCCATGGCTCACACACATTGGCCTGTTGCACTCTCAGAAACAACTGAAAACCATCTAGAGGGTGCCTTACCCTACCCCTGGGGCTGCCTACCTTGGGCTGGAAGACGTCGTTCTCCTTCCCAAGGTGGTCCACGATCCCAAAGATGCACAGTGGCCCGGCGAAGCCCAGCAGGTCGGCCAAGATGCGGAAAGTGCTGCTGAGGACCAGGCGCCTCCCGAAGGCATGGCTGAGTGCCTGCCAGATGGCCCGGGCACCTTGAGTGCCCTGAATGTCCTTCCGCTGCCCAGAGAGACCATGGCCAGGTCAGAGTGCCTGAGGGCTAATTCACGGCTGGGCCTAGCCTCCCAGGATGCCCCTAGCTCCTGTTGTCTGGGGAAACCCAGTGGTCACATCCTCTGCAAATAGGTGAACTCCAGGAAGAGATCATGGAATCAGCAAGTGCACAGTTGGGAGGGCCCTATCAACACCAACATGGTCTAGATGGGGAAACTAAGGCCAGATGATTGCTCAAGGTCACACAGCTGGTCAGGGACTATGTGATGAGCACAGCACTGGAATGAGGAGGTGGCCATGTGCCACACTCACTCATTACCACCTGCCACCGTGTCTGCCTCAGCAACTGCCCTGGTGCGAGGGCAGAGGAAGTGAAGGAGCACTGGACTGGGAGCCAGGAGACTGCCTCTGCCGCCTGCCAGCTGTGGCCAGCTCTGGGCAGGTCACAGCCTTTCTCAGGGCCTCAATTTGCTCCTCAGTGATATGGGGAGATTCCTGTCTGGCTCAACTCATAGAGTTACCATAAGGATCAGGCCACTAACACCCCTGCTCCAAATCAAGTGAACACTCCAACCTTTATAGTCAGTAAGCTGCAGAGGAAAGAGCACAGGGATGTGAGAGTCCAGTGGGGTCACTTCCCTTCTCAGAGCCTCAGTTTCCCCATCTGGATAAGGACTTTGGACTAGACGACCTAAACGGTAAGGGCCATTCCAACTGTGCCTGTCCTATGAATCCTCAGCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCA
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GGCTGCAAGGAAACAGACAACAGAGCACAGTCTGCCCAGCCCCCGAAGTGGATGCTACGGCCCCACGCAGGGCAAATAACCCCGGGGAAAGGTTTTCTAGCTCCAACAAATTTCAGTTTGCAGAATCGTTACAACTGCCAAGGCCATTGGATATAATCTAGTCTAATAAGTCTCCAGTGTTTTTTAAGCCATGGAAACTTTTCTTAAAAAAGAAATTTTAATGGAAAAGTCCAACATATTAATAAAACTACGGGCAGCTTTGAATGAAATTTGGAGTGGGGAGAGACAAAGCTCCACTCGTGAGGGTTTCCCACTTCTCTCTCCTCTGACAGTAGCTCCCAAGATGCCCCTGCAGAAAGCTCAAGTGCCAGCCTTTACAGGACTGAAGAAGACAGATCTTGAAAACTTTTAAAGAGTTTACTAAGATGACATGAACTGAAAGCCAACAAATCCAAGTCACAGAAGCTCTAGACACTGGACAAACAAAAGCACTTCCTGCAGTTTTCGGACTGACCTAACTACCGGGAGAGGTACTATGGTAGTGACGGTGAGAGGAGAGTAGGATACCCTTGGGGCATAGGCTCGCCCTCTGGCATTTCTGTTGACCAGATGTAGAGTATTCTGTGGTGGGGATACTGCTATGGGCTTTGCGCATGTGTGAGGAGCCACTCCAGTGTGGCCATGGCTCACACACATTGGCCTGTTGCACTCTCAGAAACAACTGAAAACCATCTAGAGGGTGCCTTACCCTACCCCTGGGGCTGCCTACCTTGGGCTGGAAGACGTCGTTCTCCTTCCCAAGGTGGTCCACGATCCCAAAGATGCACAGTGGCCCGGCGAAGCCCAGCAGGTCGGCCAAGATGCGGAAAGTGCTGCTGAGGACCAGGCGCCTCCCGAAGGCATGGCTGAGTGCCTGCCAGATGGCCCGGGCACCTTGAGTGCCCTGAATGTCCTTCCGCTGCCCAGAGAGACCATGGCCAGGTCAGAGTGCCTGAGGGCTAATTCACGGCTGGGCCTAGCCTCCCAGGATGCCCCTAGCTCCTGTTGTCTGGGGAAACCCAGTGGTCACATCCTCTGCAAATAGGTGAACTCCAGGAAGAGATCATGGAATCAGCAAGTGCACAGTTGGGAGGGCCCTATCAACACCAACATGGTCTAGATGGGGAAACTAAGGCCAGATGATTGCTCAAGGTCACACAGCTGGTCAGGGACTATGTGATGAGCACAGCACTGGAATGAGGAGGTGGCCATGTGCCACACTCACTCATTACCACCTGCCACCGTGTCTGCCTCAGCAACTGCCCTGGTGCGAGGGCAGAGGAAGTGAAGGAGCACTGGACTGGGAGCCAGGAGACTGCCTCTGCCGCCTGCCAGCTGTGGCCAGCTCTGGGCAGGTCACAGCCTTTCTCAGGGCCTCAATTTGCTCCTCAGTGATATGGGGAGATTCCTGTCTGGCTCAACTCATAGAGTTACCATAAGGATCAGGCCACTAACACCCCTGCTCCAAATCAAGTGAACACTCCAACCTTTATAGTCAGTAAGCTGCAGAGGAAAGAGCACAGGGATGTGAGAGTCCAGTGGGGTCACTTCCCTTCTCAGAGCCTCAGTTTCCCCATCTGGATAAGGACTTTGGACTAGACGACCTAAACGGTAAGGGCCATTCCAACTGTGCCTGTCCTATGAATCCTCAGCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCCGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCA
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Task1_train_15389
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A mutation found in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGTCCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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Task1_train_15390
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This variant affects gene ABCC8 (ATP binding cassette subfamily C member 8) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Diabetes mellitus, permanent neonatal 3
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGTCCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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Task1_train_15391
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This is a variant in ABCC8 (ATP binding cassette subfamily C member 8), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Type 2 diabetes mellitus
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGTCCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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Task1_train_15392
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Chromosome 11 houses a mutation in gene ABCC8 (ATP binding cassette subfamily C member 8). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Leucine-induced hypoglycemia
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGTCCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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Task1_train_15393
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Gene ABCC8 (ATP binding cassette subfamily C member 8), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGTCCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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Task1_train_15394
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Consider this mutation in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Diabetes mellitus, transient neonatal, 2
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGTCCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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Task1_train_15395
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The gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Type 2 diabetes mellitus
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGTCCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTG
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Task1_train_15396
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A sequence alteration has been identified in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Familial hyperinsulinism
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GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTGCATAGTCCTGTCCTGCAGTGCTGAGTGCTCAGCCTGTTGTCAGACACAGAAGTACTCA
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GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCATAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTGCATAGTCCTGTCCTGCAGTGCTGAGTGCTCAGCCTGTTGTCAGACACAGAAGTACTCA
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Task1_train_15397
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Mutation context: Chromosome 11, Gene ABCC8 (ATP binding cassette subfamily C member 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTGCATAGTCCTGTCCTGCAGTGCTGAGTGCTCAGCCTGTTGTCAGACACAGAAGTACTCA
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GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCATAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTGCATAGTCCTGTCCTGCAGTGCTGAGTGCTCAGCCTGTTGTCAGACACAGAAGTACTCA
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Task1_train_15398
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A change on Chromosome 11 affects gene ABCC8 (ATP binding cassette subfamily C member 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Diabetes mellitus, transient neonatal, 2
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GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTGCATAGTCCTGTCCTGCAGTGCTGAGTGCTCAGCCTGTTGTCAGACACAGAAGTACTCA
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GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCATAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTGCATAGTCCTGTCCTGCAGTGCTGAGTGCTCAGCCTGTTGTCAGACACAGAAGTACTCA
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Task1_train_15399
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This mutation is located in gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1
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GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCGTAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTGCATAGTCCTGTCCTGCAGTGCTGAGTGCTCAGCCTGTTGTCAGACACAGAAGTACTCA
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GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGGAGGCTTCACCTCCCTCGGTGTCTTGAAGAAGATGTATCTCTGTGGGGCACATGGGCCATGGGGGATGGGTAAGTCCAACTTCTCACCACTCCCTACCTTGCCCCAGCAAGGATCTGGGGTTGTGATATTCCACACTTGATCTCTAACAGATGGGGCCATCTTTCGCCTGTAATTATTACCAGGAAAAGGATTCCCCAACACTTCTTGGCCACCAATGTCAGGGCATCCTGACTTTGTAACTGCTCATTGAGGTCGACTTTGAACCCCCCATGGCTAGGCTGGGTTGGGTTTAGGTTGGGTTGGGGAGGAGCAGGAATCTCTCATATGCTATCTTCTCCACAGATCTAAGGATACCACCATGTTTCATATACAGTTCACAGAACTCCAAGTCATGCAGACCTGGTTTTGAATCCTGCCTCCTCCACTTACTAGCAAGGTGTTTTTGGACAAGCCTCATCTAAAATGTTTCCTCATCTATAAAGGGGATGGTGCTTGCATCACAGGGTTCCTGTGAGGGTCACTGGATGGGGGGACACATAAGGAGCTTTGTGCCCTGCAGATCACCAACTAAAAGCAGAAGAGTCAGAGAAATGCAGGCAGTCCAAGTTCGAAAGGGCTGTAGCCCTCACTGCTGGTTGGAAGGCAGGGAAAGGGTTTTCTCACTCATTGCTGGCAGATTACAGTCTTTCTGGAAGGCAATATGTAACACTGATCAAAATTTAAAATACACAGACCCTTTGACCCAGCAACGCCATTCCTTGGACTCTCTCCCATAGAAATAAAAGCAGCAATACATAAATATATAAGTATGTTCAACACACCATTATTCATGAAGGCAAGAACTTGGCAACAAAGTAAATGCCCATCCATAGAGAAATAGCTGAACACATTATGGCTCATCCATACGATGGAATATTATGCAGCCATTAAGAAAACGGAATTAGCCATATCAGATGGCTTGGAGGGAGTCCCAAGAGATATTTGTTGGGTGAGAAAAGCACAGTGCAGAAAACTGCATAATATGATCCCATTCTTACAAGATAAATACCGTGGGGGAAACCTACATATTCACTTGTGTTGAGAGGAAAAAACCTGAATAGGTATTTATTTAGACAGACACATATGGTATTATACTAATAAAAACAAAGCATGGGAAAGACAAACGAGTTCATTAGTCTGGGCTGCCTGGGGAGGTAGGGGCAGGGGAAGGGGAAGGTTGGAGTCTGGGGTGAGGAAGAGAGAGGGAGGCGGGAGCAAACAGAAAGGAAAACAAAACACTTACTCATTCATTTACCAGCGTGACGATATGAATACATTAAAGCAAAGTCCCCCACCCCCGAAGAAAGAAAGTAGGAGAGGCCAGTGCCTGATGCTTATCTTCCCTTTCTACGGAAAGTCATCCGCCAACCTCAGCGAACACACCCATCACCCCCCTCTCCCTCTGGGACCCTGGGGTAGAGCACACGTGGGCCAGATGCAGTGTCTATCCTGAAATTTCCGCCACGGCCCCACTCCCCTTTACACGGGCGGGTAAAACAAGCTGATCCCTTCTCAGTTTGGCTGAGAAGCAGGGTGGGGGCCTGAACCCAGGGCAGGACAGAGGCCAGAGCCTCTGCTTCCCACCCCACCCTGGCCCAGGTGGCCTGCTTACCCTCACCCTGATGACATTGACCTCCACGAGGAGCAGCATCCCATAGAGGATCACCAGCAGCCCTGTGAGGCAGAAGCATAGCTGCGAGAAGCCGATGGCGTGGTCCAAGAACTTGACAAACTTGATGGTCTTGGTGATGAAGGCCAGGGTCCAATACACCAGCAGGGCTGCCGAGGAGAGATGGAAGATCGCAGAGACGTGTGTGCATCATGTGTGTACACTCACATAATGTGTGCAAGTATGTGGCAGAGAAGGAGACAGAATAAGCGTGCCTGGGTGTGTACATTTCCGAGTAAGTGGATGTGCACGTGTGAATATATCAGAGTACATGACTCTAAGATGACGCACGTACGTCTTAACATTCATGAAAAACACCAATAATCTCATAAATCAAACTGGTCAGACAAATGTCCCTTAAAAATAAATGATCATGGGAAGAATGGGAAATTTATTTATTGAATTTAACTAAGTTACAGGCACTGTGCCAAGTAAGCACTTTAAACACATGATCTTATCTATTCCTCACCATAACTTTTCAAAGAAAGTACACTGCCGTCACCCCCAATTTCTCAGACAAAGGAAATGAGGCTCAGAAAGGTTAGGTAACAGATCCAAGGCCACACACCCATTAACTGGCAGAGCTGGGCTGGCCTGACGCTGGAGCCCATGCATGCAAGCTCCATGCTATAATGACTTACTTGTGGAATTTCCAAGTGAGGGAAATCTTAAAGGTCATTCAATCCAGCCTTTCATTTTACAGATGAGGAAACTGAGGCCCAGAAATAGGATGTGACCTTGCCCAAGTGCACTGGCAGCTAGGGACAGAGAGAGGGTGAAAGCCTGGATCCCTGTCCTCACAGTTCAGAGCCCACCACAGCATGATGATGGAGCAGGGGCATGGGGGATACGGAAAGAGCCAGCCACAGTTCTGTGAGGCAGCGTTATACAGGGGTTAGTGGTGGTGGCTCCGCAGCCAGATACACCTGGGCTCAGAGCCTGTGACATAATAGCTGTGTGACCTTGGATTAGTCACTTAGCCTTCTAGAGCTTAGTTTCCTCATCCATTAAGTGGGAATCATAATAGTGCTACCTAGAAGGTTCTTGTGAGAAACATATGGAAAGCATTTAGTGCAGTGAGCCTCACACGCAGCGGGTGCTCTTTGGACATTAGCTGTTATATTTTTATTATCTCCAGATTTAAGACCTGGGGAAGGTAAACCTCAGAAGCTATCAGTAGATTCTATCCTAAATTCTCGCACACACACTCACTTCAATCTGCCAATAAATCACTGTCAGCTTCCAACAACCAAAACCAGCAATAACCTGTGAAGTCCCCCTTTGAGGGTGGGGGAGATTTTAGCACTGGCAGCTCCTTCCCTCCTCCCTCCTAGACCAGATGCGGATAAGGTCAGCTTCATGACACAGAGCCCCTCTCCAGAGGACCCGAGTGAGGGAGAGAGACTTTCACCCTGCCCTCTATCCCTATGTGGGCCTGGGCATGGATGCCAGAGCATCTCTTGGGCACAAATCTGGGATCTGTCCTGCCTGGCTCAGGGTTAGGAAACAGGTTGAGATGTTGGGCCCCACCATGCGCCCAGGGCTGAGCTCACCCGGGGGGATCGATGCCATCCACCTTGGGTCCCTGCAGGAGGACATTAGGATGGAGGGCAGAAGCATCGGCCTTCTGCTCTCATGCCTCAGGACTGGAATAATGTCCCCCAGCTCAGGCTGGTCTCTAGGACTGGAGGAATTCCACAGCTGAAGGCTGTCCCCCTGCCTCCACTCCACTCTGCCGGACAGATTCTATCCCAGGCATCAGAAGCCCTTTAGCCCTTAGTGAGAGCTGCCTACAGGAGCCGAGACTTGAAAATATGCCTCATGCTTGTCTTGTCCCTAACACTTAACAGATATGGTCTGCTTTGCTCTTCATTACAACCCTATGACTTAGGCAGGGACTTACTCTTCCTGCCCAGGTGGGGAATCCGAGGCTCAGAGAGCTTGGATGTCTTGTGCAAGGTCACACAGGGAATTAGCAGTGCACCCAGGACTAGGCCCAGAGGTTTTTTGCATAGTCCTGTCCTGCAGTGCTGAGTGCTCAGCCTGTTGTCAGACACAGAAGTACTCA
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Subsets and Splits
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