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_13900
|
The following genetic variant occurs in CHAT (choline O-acetyltransferase) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Familial infantile myasthenia
|
CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
|
CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
|
Task1_train_13901
|
The gene CHAT (choline O-acetyltransferase) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Familial infantile myasthenia
|
CCTCATCCTCAACAGGAGGGAAGAGAGGATGTCCCAAGGCTAGGCTGGCTTCCCAGAGTAGAAGGTCTGCTGTGGGAGACATCTCCTTCCCCAGGATTTGCAAAAAGTGAGGGAAAGGGGATGCATGGGGACTGGAGACTCCTTTCAGGCAAGGGCATCTGTGGACACTCCTTGTGAACCTGGAGAATTCACCTGGGCAGAGCGAAGACCAGTGCAGTTAGCATCTGTGTACACAGCAGGCATTGAGAAGACCTAGGGGATGGTCTTAAAGATTTACTAACCACCCTGGGAAGGGGAGCTGTCCACATGCCCAAGGAAGGCAAAACGCAGGCGAGAGCTCCCACCATTATATCTGTGATCCAGGCAGCAGGATGGAGGAAGGTGGGAAGCAGGACAAAGAGCACATGCTAGTTATCTTTGAGGAGGTTCCCCGGAAGCTGTGGTGTAGTTTTTTGAGATCTTGCTCATAGAATTTAGACACCTGGTTACCCCTAGCTGTAAGGGAGGCTGGGAAGTATAGCTCTAGTTTGTTATCCATGTACCAAGCTAAAAACCAGGGGTTCTACAAGCAAGGAAAGAAAGGACATGTGGTGTGCAACTAGGAGTCTCTACCATGTAATGAACCTTTCCCTGCAAATGCCATGCACCCATCTTCCCACACACAGAGCACTCTCACCCCTGCCCTGGGTGCCTCATCCTGTCCCAGCATCCAGCCCCCAAGGTCAGGCTCTCCTGGTGATACGCAGCCCTCACCATTGGGTCTTGAAGTGACTCCTTGGAATTTTAAACCAAAATGTTAAACTTTGGGTGGACTTTTTAACTTTTGGTGAACTTTAAACCAAGAGGCAGGCTGTGTACCCCCACACCCAGTACTGAGCAGTGGAGAGAACATCGTCAGCACAATAGACTCCTGTTTGGAAGAAATGGGAACACGCAGCGGGAGCAGGCCTGGCCCCCAACAGGTCCTGCCGGGTGGGCTTGGTGAACCTCCCTGTGCCCTGTGGAGGAAGCTGCCAGGGAGGGCAGCTTCTGGTGCTCTCTGGGAGGAACGCATGTGTCCTTGGTGAAATCACGTGCTCTGTGCCTGACTCCCGCTCCTGAAGAGCCGTCCTTGTCTGTACTCTTCCAGTGCCACCAGGGAGGGGGATTCCCTTTTGAGACCTGCTTACTCTAGAAGAATGTCTAGAGGAGCCTGGGAATTGGTAGAGGCTAACACAAAAGCCAGCTGTGGGCCAGGCTTGGAGCTCCTTTGGATCCATGAGTCCAAAACTGCCCCTACAAGCTCATCCAGATGTGGGTTCAAGGCAGCCTGGCCCTTCTGCCTGCAGCTCTGCCTCTGAACCAACAGCTTGGGGGCAGGGAGGTGACCAATACACTTCCTTCAGGTTTTAATGTGAAATTGCCTAATTTTGAAATTGCAACAACAATTTTGAAATTGCAGTTTAGATGTCTGAAAGTCATAGTTCAGCACAAACAAGCATGCCTACACACAGATGTGGCTCACAGGAGCCCCAGTGGAGGGTGCTGTTGGGTGGGGGATTAAGGGCCCTTCCACTGATGTGGGCTGACATGAGGGTCTAAGCATCCCGCTTCATCTTGGCATGCATGACCAATAGCCCACACATCTGGAGGAGAGCTGGTCACAGCTGGAGAGCAGGGCTCCTGCAGGGACCGTGCGAATGAGCTGGGATCCTGGGGTAGGACAGAGGCTCAGGACACTCTGGCTGACTTCACTGCCCACCCACAGTGGGGCAAGGTGGGGGGTCAGGGCTGGCTCAAGACCTGGGTCTTGTTGTGATCCCAGAAGACAGGGCTGCCCTGCCCTGTGTGGGGCTCTGAGGAGGGAAGACTGGCCTGGAGCGGGACAGGTGCTAGGGCTGTGCCTGCCTCCCCTGCAGACTCCACCAACCGGGACTCGCTGGACATGATTGAGCGCTGCATCTGCCTTGTATGCCTGGACGCGCCAGGAGGCGTGGAGCTCAGCGACACCCACAGGGCACTCCAGCTCCTTCACGGCGGAGGCTACAGCAAGAACGGGGCCAATCGCTGGTACGACAAGTCCCTGCAGGTAAGCCGTCCAGGTGGCCCTGCAAGAGCACAGCCATGCCCCCAGCGAGAGAGTGAGTAGGCAAGCGGGCACAGCCTGGTGCCCAGGCCCGCACGTGCTTGTGTCTGGCAGGCGCACTCACTGGTTTCTGCTGCCTAAGAGGCTGGGTCTGAGGGGTCAGGAGAGCTGGAGGGGTCTGAGATGTGCTGTTGATGTCAATCTCTGGACCAGCCAGAACTCTTCTCAGGAGCCAGTGGCCGAACCCAACTCAAACTCCCTAACCTTCCTGCAGCCTGTGCCAGGAAGGTCTGGGCCAGACCTGGGGCCCATTTCCCATCACCCATCACACCTGTGAGGTGGGGGTGTGCCAGGAGTAGGAGAGTATAACAGCCCCACTGAACAAATCCTTAATGCATGCTGAAATAATAATTTCTGATGCCCAGAGCTGTCAGCTTTTTGGATGTCCACCCCCGTGGCCTGGCGATTTCAACATACCTCCCTCAATCCCTGAGAAGTAGAACAGCCCAGCATCTCCATGGAAGAAAGACTGTAAGATGAGATAAAATAATTCATATATGTTCATTTACATGACATCAGCCTAGAAGCAAGAAATTTACTTTGACCTAGAGAAAAATACCCATGCAGACGGGATGAAGTCAAGGTCAAACCATTCATTCCCATTCTGCCATCCTCCTTTTATTCCCCCAACATGCCAATCCTGAACCTAGTCTTGTTTATTTTAAAGTCACTACACTTTTATATGATATGCCATGTAGTATAAAACAGCAGGCAAAAACAAAACATCTCTCTACTTTGGGTTAGCAAAGCTCACATTGATAAGCATATCTAGACAACACCTCGTTTTCCTTTCTCTCTGTCCCTACATTCTGCAGGTTTTCCTTTTTATTGGTTTGCATATTGATTCTGTTATTTCTGATGCGCTCTCCAGCTGCTGGGCCAGCTGTTTTAGCCTCTACAGTGGTGCTAATGGCTTATCATCTTTCATGGAGCTGTGGGGGTGAACCGATATAATACATGCACAGAATCTGGAACTCAGCCTTGGTAGCAGTTTTCAAAAGACACCGCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTTAGTGACAGGCACAGATAAGTACTAATGTGGGGGGTGGGTGCAGCCCTCTCCACCACCTCTCATGGGTTAGTCTATGCTGACCTCCAGGTTCTTTTCATCAGCAGGGCAGATTATCAGGCGAACCAGAGAAGCCAGCAGGGCTTCATGGACCTGAATTCAAGATGATGGAGAACTGGTCTCAGGATAGCAAGGCAGGGGACACTGGGGGCGGGAGGGGAGGGCCTGCAAAGGGTGAGTTTGGGGAGAAGCTCTGTGGGAAGTGAGTTTCTTTGTAGAATGGGAGTAAAGATCCAGCCTCTGGCACACAAGGCAAGAGATTGGGAGGAGACCCCGATGTGAGCTATGACAGGAAACAGGGCTGAAGGGCCTCACCCAGGCCCCAAGGGCAGCTGGGCAGACTCGTCCTGAGGATGAACTCCTCAGAAATCCCTGGACTGCTCAGTCCGGGAACTTGGGGCTCCACCTTCACTGCCCACAGCTTTTACGGGAAAGAGGTCGTGAGTGCAGAGTAGTCTTGGATTCTCATATTCTCAGGCCACTGCAATCACATGCAGTGTTCTCTTCAGGAAATAATGTGCTCTGGTGTCCCTGGAGAAGAGGTGCCCTGAGAAGCCAGGGGCCTAACCTGGGGCCAAGGGGCTGCCTTGCAATGCTGACTCTCCCATGATCGCCCACTCCCTCTTTCCTGTTGCAGTTTGTGGTGGGCCGAGACGGCACCTGCGGTGTGGTGTGCGAACACTCCCCATTCGATGGCATCGTCCTGGTGCAGTGCACTGAGCATCTGCTCAAGCACGTGTGAGTCTGGATCCCAGGGCTGCCATGCTGGGCCCAAAAAAATGTGGGTGGTCGCTGGGGGCTGTGTCAGTCTGGAAAGCGTCTTAACAAAAGAT
|
CCTCATCCTCAACAGGAGGGAAGAGAGGATGTCCCAAGGCTAGGCTGGCTTCCCAGAGTAGAAGGTCTGCTGTGGGAGACATCTCCTTCCCCAGGATTTGCAAAAAGTGAGGGAAAGGGGATGCATGGGGACTGGAGACTCCTTTCAGGCAAGGGCATCTGTGGACACTCCTTGTGAACCTGGAGAATTCACCTGGGCAGAGCGAAGACCAGTGCAGTTAGCATCTGTGTACACAGCAGGCATTGAGAAGACCTAGGGGATGGTCTTAAAGATTTACTAACCACCCTGGGAAGGGGAGCTGTCCACATGCCCAAGGAAGGCAAAACGCAGGCGAGAGCTCCCACCATTATATCTGTGATCCAGGCAGCAGGATGGAGGAAGGTGGGAAGCAGGACAAAGAGCACATGCTAGTTATCTTTGAGGAGGTTCCCCGGAAGCTGTGGTGTAGTTTTTTGAGATCTTGCTCATAGAATTTAGACACCTGGTTACCCCTAGCTGTAAGGGAGGCTGGGAAGTATAGCTCTAGTTTGTTATCCATGTACCAAGCTAAAAACCAGGGGTTCTACAAGCAAGGAAAGAAAGGACATGTGGTGTGCAACTAGGAGTCTCTACCATGTAATGAACCTTTCCCTGCAAATGCCATGCACCCATCTTCCCACACACAGAGCACTCTCACCCCTGCCCTGGGTGCCTCATCCTGTCCCAGCATCCAGCCCCCAAGGTCAGGCTCTCCTGGTGATACGCAGCCCTCACCATTGGGTCTTGAAGTGACTCCTTGGAATTTTAAACCAAAATGTTAAACTTTGGGTGGACTTTTTAACTTTTGGTGAACTTTAAACCAAGAGGCAGGCTGTGTACCCCCACACCCAGTACTGAGCAGTGGAGAGAACATCGTCAGCACAATAGACTCCTGTTTGGAAGAAATGGGAACACGCAGCGGGAGCAGGCCTGGCCCCCAACAGGTCCTGCCGGGTGGGCTTGGTGAACCTCCCTGTGCCCTGTGGAGGAAGCTGCCAGGGAGGGCAGCTTCTGGTGCTCTCTGGGAGGAACGCATGTGTCCTTGGTGAAATCACGTGCTCTGTGCCTGACTCCCGCTCCTGAAGAGCCGTCCTTGTCTGTACTCTTCCAGTGCCACCAGGGAGGGGGATTCCCTTTTGAGACCTGCTTACTCTAGAAGAATGTCTAGAGGAGCCTGGGAATTGGTAGAGGCTAACACAAAAGCCAGCTGTGGGCCAGGCTTGGAGCTCCTTTGGATCCATGAGTCCAAAACTGCCCCTACAAGCTCATCCAGATGTGGGTTCAAGGCAGCCTGGCCCTTCTGCCTGCAGCTCTGCCTCTGAACCAACAGCTTGGGGGCAGGGAGGTGACCAATACACTTCCTTCAGGTTTTAATGTGAAATTGCCTAATTTTGAAATTGCAACAACAATTTTGAAATTGCAGTTTAGATGTCTGAAAGTCATAGTTCAGCACAAACAAGCATGCCTACACACAGATGTGGCTCACAGGAGCCCCAGTGGAGGGTGCTGTTGGGTGGGGGATTAAGGGCCCTTCCACTGATGTGGGCTGACATGAGGGTCTAAGCATCCCGCTTCATCTTGGCATGCATGACCAATAGCCCACACATCTGGAGGAGAGCTGGTCACAGCTGGAGAGCAGGGCTCCTGCAGGGACCGTGCGAATGAGCTGGGATCCTGGGGTAGGACAGAGGCTCAGGACACTCTGGCTGACTTCACTGCCCACCCACAGTGGGGCAAGGTGGGGGGTCAGGGCTGGCTCAAGACCTGGGTCTTGTTGTGATCCCAGAAGACAGGGCTGCCCTGCCCTGTGTGGGGCTCTGAGGAGGGAAGACTGGCCTGGAGCGGGACAGGTGCTAGGGCTGTGCCTGCCTCCCCTGCAGACTCCACCAACCGGGACTCGCTGGACATGATTGAGCGCTGCATCTGCCTTGTATGCCTGGACGCGCCAGGAGGCGTGGAGCTCAGCGACACCCACAGGGCACTCCAGCTCCTTCACGGCGGAGGCTACAGCAAGAACGGGGCCAATCGCTCGTACGACAAGTCCCTGCAGGTAAGCCGTCCAGGTGGCCCTGCAAGAGCACAGCCATGCCCCCAGCGAGAGAGTGAGTAGGCAAGCGGGCACAGCCTGGTGCCCAGGCCCGCACGTGCTTGTGTCTGGCAGGCGCACTCACTGGTTTCTGCTGCCTAAGAGGCTGGGTCTGAGGGGTCAGGAGAGCTGGAGGGGTCTGAGATGTGCTGTTGATGTCAATCTCTGGACCAGCCAGAACTCTTCTCAGGAGCCAGTGGCCGAACCCAACTCAAACTCCCTAACCTTCCTGCAGCCTGTGCCAGGAAGGTCTGGGCCAGACCTGGGGCCCATTTCCCATCACCCATCACACCTGTGAGGTGGGGGTGTGCCAGGAGTAGGAGAGTATAACAGCCCCACTGAACAAATCCTTAATGCATGCTGAAATAATAATTTCTGATGCCCAGAGCTGTCAGCTTTTTGGATGTCCACCCCCGTGGCCTGGCGATTTCAACATACCTCCCTCAATCCCTGAGAAGTAGAACAGCCCAGCATCTCCATGGAAGAAAGACTGTAAGATGAGATAAAATAATTCATATATGTTCATTTACATGACATCAGCCTAGAAGCAAGAAATTTACTTTGACCTAGAGAAAAATACCCATGCAGACGGGATGAAGTCAAGGTCAAACCATTCATTCCCATTCTGCCATCCTCCTTTTATTCCCCCAACATGCCAATCCTGAACCTAGTCTTGTTTATTTTAAAGTCACTACACTTTTATATGATATGCCATGTAGTATAAAACAGCAGGCAAAAACAAAACATCTCTCTACTTTGGGTTAGCAAAGCTCACATTGATAAGCATATCTAGACAACACCTCGTTTTCCTTTCTCTCTGTCCCTACATTCTGCAGGTTTTCCTTTTTATTGGTTTGCATATTGATTCTGTTATTTCTGATGCGCTCTCCAGCTGCTGGGCCAGCTGTTTTAGCCTCTACAGTGGTGCTAATGGCTTATCATCTTTCATGGAGCTGTGGGGGTGAACCGATATAATACATGCACAGAATCTGGAACTCAGCCTTGGTAGCAGTTTTCAAAAGACACCGCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTTAGTGACAGGCACAGATAAGTACTAATGTGGGGGGTGGGTGCAGCCCTCTCCACCACCTCTCATGGGTTAGTCTATGCTGACCTCCAGGTTCTTTTCATCAGCAGGGCAGATTATCAGGCGAACCAGAGAAGCCAGCAGGGCTTCATGGACCTGAATTCAAGATGATGGAGAACTGGTCTCAGGATAGCAAGGCAGGGGACACTGGGGGCGGGAGGGGAGGGCCTGCAAAGGGTGAGTTTGGGGAGAAGCTCTGTGGGAAGTGAGTTTCTTTGTAGAATGGGAGTAAAGATCCAGCCTCTGGCACACAAGGCAAGAGATTGGGAGGAGACCCCGATGTGAGCTATGACAGGAAACAGGGCTGAAGGGCCTCACCCAGGCCCCAAGGGCAGCTGGGCAGACTCGTCCTGAGGATGAACTCCTCAGAAATCCCTGGACTGCTCAGTCCGGGAACTTGGGGCTCCACCTTCACTGCCCACAGCTTTTACGGGAAAGAGGTCGTGAGTGCAGAGTAGTCTTGGATTCTCATATTCTCAGGCCACTGCAATCACATGCAGTGTTCTCTTCAGGAAATAATGTGCTCTGGTGTCCCTGGAGAAGAGGTGCCCTGAGAAGCCAGGGGCCTAACCTGGGGCCAAGGGGCTGCCTTGCAATGCTGACTCTCCCATGATCGCCCACTCCCTCTTTCCTGTTGCAGTTTGTGGTGGGCCGAGACGGCACCTGCGGTGTGGTGTGCGAACACTCCCCATTCGATGGCATCGTCCTGGTGCAGTGCACTGAGCATCTGCTCAAGCACGTGTGAGTCTGGATCCCAGGGCTGCCATGCTGGGCCCAAAAAAATGTGGGTGGTCGCTGGGGGCTGTGTCAGTCTGGAAAGCGTCTTAACAAAAGAT
|
Task1_train_13902
|
Here is a mutation in CHAT (choline O-acetyltransferase) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Congenital myasthenic syndrome
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TATTGATTCTGTTATTTCTGATGCGCTCTCCAGCTGCTGGGCCAGCTGTTTTAGCCTCTACAGTGGTGCTAATGGCTTATCATCTTTCATGGAGCTGTGGGGGTGAACCGATATAATACATGCACAGAATCTGGAACTCAGCCTTGGTAGCAGTTTTCAAAAGACACCGCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTTAGTGACAGGCACAGATAAGTACTAATGTGGGGGGTGGGTGCAGCCCTCTCCACCACCTCTCATGGGTTAGTCTATGCTGACCTCCAGGTTCTTTTCATCAGCAGGGCAGATTATCAGGCGAACCAGAGAAGCCAGCAGGGCTTCATGGACCTGAATTCAAGATGATGGAGAACTGGTCTCAGGATAGCAAGGCAGGGGACACTGGGGGCGGGAGGGGAGGGCCTGCAAAGGGTGAGTTTGGGGAGAAGCTCTGTGGGAAGTGAGTTTCTTTGTAGAATGGGAGTAAAGATCCAGCCTCTGGCACACAAGGCAAGAGATTGGGAGGAGACCCCGATGTGAGCTATGACAGGAAACAGGGCTGAAGGGCCTCACCCAGGCCCCAAGGGCAGCTGGGCAGACTCGTCCTGAGGATGAACTCCTCAGAAATCCCTGGACTGCTCAGTCCGGGAACTTGGGGCTCCACCTTCACTGCCCACAGCTTTTACGGGAAAGAGGTCGTGAGTGCAGAGTAGTCTTGGATTCTCATATTCTCAGGCCACTGCAATCACATGCAGTGTTCTCTTCAGGAAATAATGTGCTCTGGTGTCCCTGGAGAAGAGGTGCCCTGAGAAGCCAGGGGCCTAACCTGGGGCCAAGGGGCTGCCTTGCAATGCTGACTCTCCCATGATCGCCCACTCCCTCTTTCCTGTTGCAGTTTGTGGTGGGCCGAGACGGCACCTGCGGTGTGGTGTGCGAACACTCCCCATTCGATGGCATCGTCCTGGTGCAGTGCACTGAGCATCTGCTCAAGCACGTGTGAGTCTGGATCCCAGGGCTGCCATGCTGGGCCCAAAAAAATGTGGGTGGTCGCTGGGGGCTGTGTCAGTCTGGAAAGCGTCTTAACAAAAGATGAATTTGAAAAAAATGTGTACTATACACACACACACACACACACACACACACACACGATGAATTTGAAACCCAGCTTTGTATGCGACATCATGTGCTTCACGGGCCATGGATAGGAGGCAGCAGATTTACGGCAGTCAGGGAGAAGCATGGCAAGGAATTCTCAGGAACCTCTGCCTTGAGAGAGGGGAAGCCTACATCGATACCTATTGCTTATCCTGAGTCAGGGCCAGGCCCACGGCTGCCCCAGCACAGGGGGAGTTCTCTGAGTCTCACTGCTTCCAAATCCCAAGGCTGGGTCCCTCCTTAGCTCCCCAGCAGGGTTCCTCTGTGCCCTAAACACATGGTATTCCTTCCTCTATTCCCAATTTTACCCATTCTCTCCTAGAATCTTCTCCCTGCATCCAAGTCTTCAATTTCTTCCATGAAACTCAGGGTTACTGAAACCTAAACCAAGCCTAGTAGGCACAAACCTTGTAGAAGAGAACAACACAGCTTGCTCTTAAATTTCTCTCCAAGTCTTCTGTAAGGGTGTAACATGGTCTAATAGGAAAACAATGAAAAGAAATAATGGGTTTTGGAGTCAGGCGGAACTGGATGGAGCCCTGGCCCTGCCACTTAATGATTTTGGTGGCCTCTCTGAGCCTCAGTTTATTCATCTGCACGGTGGTTCAGGGGCAGCTCGTACCCCCTGAAACTCCATGGCCGCAAACACTGACAGCTAAGATGATTGCACAGAGCAAAGAAGAGATGCCTCCCACAGCTGTCTGGCCGCAGAGCCTCAGGAGGTTGCCTCTGTGCCCGCAGGACGCAGAGCAGCAGGAAGCTGATCCGAGCAGACTCCGTCAGCGAGCTCCCCGCCCCCCGGAGGCTGCGGTGGAAATGCTCCCCGGAAATTCAAGGCCACTTAGCCTCCTCGGCAGAAAAACTTCAACGGTAAGGATAACCGAAGTCTCCTTTGAGGGGTCCCCTAGGGACCACCCCGCCCTTGCCTACTAGCTCCCAAGGCTCCCTGGAAGTTTCCAAAGACCCCAGCTCCTCTGCCTCTCCTTGGGCTCCACCTCGTCCCCATCCCTCATGTAGTCAAATTAAAGGAGAGATACAACTCTGGGGAAATAACCTTGCTGAAGTATCCATCATTTCTCTAAAATGCAAACGCAGGGCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGTTTCACCTGACTGAGCAGAGTCAAGGCCGGGAAATCATCCCCTGCTTTAGGGGGAGTAATAAACAACTGGTTTGAATAGGTCATTTGAATTCAAGCTATTTAAATTTGCTTGAATGTACAGTGCAACTTGACAAAGGGGCCTTTTTCCCCAAGGGGAGGGGGCCGTTCAGGCCCTAACGGGACCCAGGCAGGAGGGCCTGGGGCAGCAGCAAGCAGTGGTGGCAGCCACATCCTGGCAACCACGTCTGCACTGTAGCTGTTGATTCTCCCATTCAGTAAGCAAGCACGAATGCATTCATTCACTGGTTTGCTCATTCATTCATCAAACATGTGCAGAGCTCTGGTGTGCACCCGGCCCGTGGTAAGGCTCTGAGAACACAGAAAGTTAAGTACCATGGGACCTGCACTCCATATTTGAGTGGAATAAGTAGACTCCCAGGCCAAAACATGTGATACAGTAAGATTAATGCCAAAAGCAGAAACAGCCATGCTGACCTGAACCCACAAAAATATAGAAGCTGAACTCTGTCAGGACTGTGAGGGAGGGCCTTGTAGAGACGGGCCTTGAAGGATGGATAGGAGTTCATGGTGCAAGCAGATGGGGAAGAGGCAGAAAGGCAGCTTCTTCAAGCTTGTACAAGTTCATAATGATGAAGGCTGGTTTGGAGACCAGCAAGTGAGAGAATGGCCAGAGTGGGGCCACAAAAAGGAAGTTGGGCCACACTGTGATGAGTGTCACTGTCCTGTTATGGGCCTAGAGCCTGCCCTGCCACTGGAGGGTTCTGTGCAGGGGGTATGGGGACGCCCCTGAGGAGGCTGTGGGAAGGGCACATGTGAGCAGGACAGAGTGTGGCCAGGCTGGGAAGCTGAAGAGCGGGAAGGACCCATCCACTGGGAGCTGCTGGAGAGGTTGCCTGGCTTCAGTGGGCATGGAGGGGCCTCAGGTGTTCTATAAAGTGGTGCTCACATCTCAGCTTTGCAGGGTTGTTCAGGAGCTAAGTCAGGGGCCAAGGCAGTGAGCTGGTGGGCTGCTGAGTCCTCAGTGGGTAAAGGAGTCCACTCACTTCCAGGGACCTGAGCAGACCCCACATTCCCCAAGGCCCCCAGCTCCACCCTCCAGAGGCTGAGGAGAGCCAGGAAAGGCCCATGGATGGGGAAGAAGGAGGCTTCTTCCTGGGGGTCCTGAGGGGCCCATACAAGTGGGTGAGGCCCGAGTGGGCACAGCTTGGGGGAGAGATTTCCAGGTGGCTGTGGTGATAGTGAGCTCAGTCTGTCCCAGACGTCTGTCAACAGGTAGGTCTAAGGAGCGAGTACTCATGGGAACTGGGTCTCCTCCAAGTCCCCCTGTGTTCCTAGCACCTGGCCCCACCGAGAGCTGAGCTGCTGTGAGCAGGAGGAATACTTCAAGGAGAGGCAGGCAGGGAGCATGGAGTCCCGACAGAAGGTGTGCGTGTGGGCTCGGGGTTCCCACTCAGGCTATGCGCTCTCCAGTGGGGAGGCACATAGACCTTGCCAGACACTGCTCCAGTGGGCAGTCAGCTCAGACCCCAGACTCCTGATGGAGGAGGAGATTGTTCAATATGAGGGTCAGCCAGTGCTCCAGAGTCTCAGTGCAGACTTGGAAAATGTTCCTGTTACTCCGACAGTGAATTACAAAATCCCGGGCATGTCACCTGTGTCACAGTTAATCCCTGACTCACTAACACAGCCAGGCCCACCTCCCCACCCACTCTCCAGAGCAGGGCCGACACCCCACTCAGCTGAGCTC
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TATTGATTCTGTTATTTCTGATGCGCTCTCCAGCTGCTGGGCCAGCTGTTTTAGCCTCTACAGTGGTGCTAATGGCTTATCATCTTTCATGGAGCTGTGGGGGTGAACCGATATAATACATGCACAGAATCTGGAACTCAGCCTTGGTAGCAGTTTTCAAAAGACACCGCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTTAGTGACAGGCACAGATAAGTACTAATGTGGGGGGTGGGTGCAGCCCTCTCCACCACCTCTCATGGGTTAGTCTATGCTGACCTCCAGGTTCTTTTCATCAGCAGGGCAGATTATCAGGCGAACCAGAGAAGCCAGCAGGGCTTCATGGACCTGAATTCAAGATGATGGAGAACTGGTCTCAGGATAGCAAGGCAGGGGACACTGGGGGCGGGAGGGGAGGGCCTGCAAAGGGTGAGTTTGGGGAGAAGCTCTGTGGGAAGTGAGTTTCTTTGTAGAATGGGAGTAAAGATCCAGCCTCTGGCACACAAGGCAAGAGATTGGGAGGAGACCCCGATGTGAGCTATGACAGGAAACAGGGCTGAAGGGCCTCACCCAGGCCCCAAGGGCAGCTGGGCAGACTCGTCCTGAGGATGAACTCCTCAGAAATCCCTGGACTGCTCAGTCCGGGAACTTGGGGCTCCACCTTCACTGCCCACAGCTTTTACGGGAAAGAGGTCGTGAGTGCAGAGTAGTCTTGGATTCTCATATTCTCAGGCCACTGCAATCACATGCAGTGTTCTCTTCAGGAAATAATGTGCTCTGGTGTCCCTGGAGAAGAGGTGCCCTGAGAAGCCAGGGGCCTAACCTGGGGCCAAGGGGCTGCCTTGCAATGCTGACTCTCCCATGATCGCCCACTCCCTCTTTCCTGTTGCAGTTTGTGGTGGGCCGAGACGGCACCTGCGGTGTGGTGTGCGAACACTCCCCATTCGATGGCATCGTCCTGGTGCAGTGCACTGAGCATCTGCTCAAGCACGTGTGAGTCTGGATCCCAGGGCTGCCATGCTGGGCCCAAAAAAATGTGGGTGGTCGCTGGGGGCTGTGTCAGTCTGGAAAGCGTCTTAACAAAAGATGAATTTGAAAAAAATGTGTACTATACACACACACACACACACACACACACACACACGATGAATTTGAAACCCAGCTTTGTATGCGACATCATGTGCTTCACGGGCCATGGATAGGAGGCAGCAGATTTACGGCAGTCAGGGAGAAGCATGGCAAGGAATTCTCAGGAACCTCTGCCTTGAGAGAGGGGAAGCCTACATCGATACCTATTGCTTATCCTGAGTCAGGGCCAGGCCCACGGCTGCCCCAGCACAGGGGGAGTTCTCTGAGTCTCACTGCTTCCAAATCCCAAGGCTGGGTCCCTCCTTAGCTCCCCAGCAGGGTTCCTCTGTGCCCTAAACACATGGTATTCCTTCCTCTATTCCCAATTTTACCCATTCTCTCCTAGAATCTTCTCCCTGCATCCAAGTCTTCAATTTCTTCCATGAAACTCAGGGTTACTGAAACCTAAACCAAGCCTAGTAGGCACAAACCTTGTAGAAGAGAACAACACAGCTTGCTCTTAAATTTCTCTCCAAGTCTTCTGTAAGGGTGTAACATGGTCTAATAGGAAAACAATGAAAAGAAATAATGGGTTTTGGAGTCAGGCGGAACTGGATGGAGCCCTGGCCCTGCCACTTAATGATTTTGGTGGCCTCTCTGAGCCTCAGTTTATTCATCTGCACGGTGGTTCAGGGGCAGCTCGTACCCCCTGAAACTCCATGGCCGCAAACACTGACAGCTAAGATGATTGCACAGAGCAAAGAAGAGATGCCTCCCACAGCTGTCTGGCCGCAGAGCCTCAGGAGGTTGCCTCTGTGCCCGCAGGACGCAGAGCAGCAGGAAGCTGATCCGAGCAGACTCCGTCAGCGAGCTCCCCGCCCCCCGGAGGCTGCGGTGGAAATGCTCCCCGGAAATTCAAGGCCACTTAGCCTCCTTGGCAGAAAAACTTCAACGGTAAGGATAACCGAAGTCTCCTTTGAGGGGTCCCCTAGGGACCACCCCGCCCTTGCCTACTAGCTCCCAAGGCTCCCTGGAAGTTTCCAAAGACCCCAGCTCCTCTGCCTCTCCTTGGGCTCCACCTCGTCCCCATCCCTCATGTAGTCAAATTAAAGGAGAGATACAACTCTGGGGAAATAACCTTGCTGAAGTATCCATCATTTCTCTAAAATGCAAACGCAGGGCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGTTTCACCTGACTGAGCAGAGTCAAGGCCGGGAAATCATCCCCTGCTTTAGGGGGAGTAATAAACAACTGGTTTGAATAGGTCATTTGAATTCAAGCTATTTAAATTTGCTTGAATGTACAGTGCAACTTGACAAAGGGGCCTTTTTCCCCAAGGGGAGGGGGCCGTTCAGGCCCTAACGGGACCCAGGCAGGAGGGCCTGGGGCAGCAGCAAGCAGTGGTGGCAGCCACATCCTGGCAACCACGTCTGCACTGTAGCTGTTGATTCTCCCATTCAGTAAGCAAGCACGAATGCATTCATTCACTGGTTTGCTCATTCATTCATCAAACATGTGCAGAGCTCTGGTGTGCACCCGGCCCGTGGTAAGGCTCTGAGAACACAGAAAGTTAAGTACCATGGGACCTGCACTCCATATTTGAGTGGAATAAGTAGACTCCCAGGCCAAAACATGTGATACAGTAAGATTAATGCCAAAAGCAGAAACAGCCATGCTGACCTGAACCCACAAAAATATAGAAGCTGAACTCTGTCAGGACTGTGAGGGAGGGCCTTGTAGAGACGGGCCTTGAAGGATGGATAGGAGTTCATGGTGCAAGCAGATGGGGAAGAGGCAGAAAGGCAGCTTCTTCAAGCTTGTACAAGTTCATAATGATGAAGGCTGGTTTGGAGACCAGCAAGTGAGAGAATGGCCAGAGTGGGGCCACAAAAAGGAAGTTGGGCCACACTGTGATGAGTGTCACTGTCCTGTTATGGGCCTAGAGCCTGCCCTGCCACTGGAGGGTTCTGTGCAGGGGGTATGGGGACGCCCCTGAGGAGGCTGTGGGAAGGGCACATGTGAGCAGGACAGAGTGTGGCCAGGCTGGGAAGCTGAAGAGCGGGAAGGACCCATCCACTGGGAGCTGCTGGAGAGGTTGCCTGGCTTCAGTGGGCATGGAGGGGCCTCAGGTGTTCTATAAAGTGGTGCTCACATCTCAGCTTTGCAGGGTTGTTCAGGAGCTAAGTCAGGGGCCAAGGCAGTGAGCTGGTGGGCTGCTGAGTCCTCAGTGGGTAAAGGAGTCCACTCACTTCCAGGGACCTGAGCAGACCCCACATTCCCCAAGGCCCCCAGCTCCACCCTCCAGAGGCTGAGGAGAGCCAGGAAAGGCCCATGGATGGGGAAGAAGGAGGCTTCTTCCTGGGGGTCCTGAGGGGCCCATACAAGTGGGTGAGGCCCGAGTGGGCACAGCTTGGGGGAGAGATTTCCAGGTGGCTGTGGTGATAGTGAGCTCAGTCTGTCCCAGACGTCTGTCAACAGGTAGGTCTAAGGAGCGAGTACTCATGGGAACTGGGTCTCCTCCAAGTCCCCCTGTGTTCCTAGCACCTGGCCCCACCGAGAGCTGAGCTGCTGTGAGCAGGAGGAATACTTCAAGGAGAGGCAGGCAGGGAGCATGGAGTCCCGACAGAAGGTGTGCGTGTGGGCTCGGGGTTCCCACTCAGGCTATGCGCTCTCCAGTGGGGAGGCACATAGACCTTGCCAGACACTGCTCCAGTGGGCAGTCAGCTCAGACCCCAGACTCCTGATGGAGGAGGAGATTGTTCAATATGAGGGTCAGCCAGTGCTCCAGAGTCTCAGTGCAGACTTGGAAAATGTTCCTGTTACTCCGACAGTGAATTACAAAATCCCGGGCATGTCACCTGTGTCACAGTTAATCCCTGACTCACTAACACAGCCAGGCCCACCTCCCCACCCACTCTCCAGAGCAGGGCCGACACCCCACTCAGCTGAGCTC
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Task1_train_13903
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This mutation is located in gene CHAT (choline O-acetyltransferase) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Familial infantile myasthenia
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TTTCTCTAAAATGCAAACGCAGGGCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGTTTCACCTGACTGAGCAGAGTCAAGGCCGGGAAATCATCCCCTGCTTTAGGGGGAGTAATAAACAACTGGTTTGAATAGGTCATTTGAATTCAAGCTATTTAAATTTGCTTGAATGTACAGTGCAACTTGACAAAGGGGCCTTTTTCCCCAAGGGGAGGGGGCCGTTCAGGCCCTAACGGGACCCAGGCAGGAGGGCCTGGGGCAGCAGCAAGCAGTGGTGGCAGCCACATCCTGGCAACCACGTCTGCACTGTAGCTGTTGATTCTCCCATTCAGTAAGCAAGCACGAATGCATTCATTCACTGGTTTGCTCATTCATTCATCAAACATGTGCAGAGCTCTGGTGTGCACCCGGCCCGTGGTAAGGCTCTGAGAACACAGAAAGTTAAGTACCATGGGACCTGCACTCCATATTTGAGTGGAATAAGTAGACTCCCAGGCCAAAACATGTGATACAGTAAGATTAATGCCAAAAGCAGAAACAGCCATGCTGACCTGAACCCACAAAAATATAGAAGCTGAACTCTGTCAGGACTGTGAGGGAGGGCCTTGTAGAGACGGGCCTTGAAGGATGGATAGGAGTTCATGGTGCAAGCAGATGGGGAAGAGGCAGAAAGGCAGCTTCTTCAAGCTTGTACAAGTTCATAATGATGAAGGCTGGTTTGGAGACCAGCAAGTGAGAGAATGGCCAGAGTGGGGCCACAAAAAGGAAGTTGGGCCACACTGTGATGAGTGTCACTGTCCTGTTATGGGCCTAGAGCCTGCCCTGCCACTGGAGGGTTCTGTGCAGGGGGTATGGGGACGCCCCTGAGGAGGCTGTGGGAAGGGCACATGTGAGCAGGACAGAGTGTGGCCAGGCTGGGAAGCTGAAGAGCGGGAAGGACCCATCCACTGGGAGCTGCTGGAGAGGTTGCCTGGCTTCAGTGGGCATGGAGGGGCCTCAGGTGTTCTATAAAGTGGTGCTCACATCTCAGCTTTGCAGGGTTGTTCAGGAGCTAAGTCAGGGGCCAAGGCAGTGAGCTGGTGGGCTGCTGAGTCCTCAGTGGGTAAAGGAGTCCACTCACTTCCAGGGACCTGAGCAGACCCCACATTCCCCAAGGCCCCCAGCTCCACCCTCCAGAGGCTGAGGAGAGCCAGGAAAGGCCCATGGATGGGGAAGAAGGAGGCTTCTTCCTGGGGGTCCTGAGGGGCCCATACAAGTGGGTGAGGCCCGAGTGGGCACAGCTTGGGGGAGAGATTTCCAGGTGGCTGTGGTGATAGTGAGCTCAGTCTGTCCCAGACGTCTGTCAACAGGTAGGTCTAAGGAGCGAGTACTCATGGGAACTGGGTCTCCTCCAAGTCCCCCTGTGTTCCTAGCACCTGGCCCCACCGAGAGCTGAGCTGCTGTGAGCAGGAGGAATACTTCAAGGAGAGGCAGGCAGGGAGCATGGAGTCCCGACAGAAGGTGTGCGTGTGGGCTCGGGGTTCCCACTCAGGCTATGCGCTCTCCAGTGGGGAGGCACATAGACCTTGCCAGACACTGCTCCAGTGGGCAGTCAGCTCAGACCCCAGACTCCTGATGGAGGAGGAGATTGTTCAATATGAGGGTCAGCCAGTGCTCCAGAGTCTCAGTGCAGACTTGGAAAATGTTCCTGTTACTCCGACAGTGAATTACAAAATCCCGGGCATGTCACCTGTGTCACAGTTAATCCCTGACTCACTAACACAGCCAGGCCCACCTCCCCACCCACTCTCCAGAGCAGGGCCGACACCCCACTCAGCTGAGCTCACCTTGGGTCATAGTAGTCCTGGCCTGGTTTGTCTTCTGACACTTTCATAGGTCAAGGCATGTCTCTGACACCTCAGTGCACTCCTGAAGGGCAGGGACTACGTCCGCACCTTCCAGAACGCTAGGACACAGACCAGGCTCTAGAAGCCCGGGGAAACCCCAGATGCATGCATACTGTTTTGCATGCAATAAAAACATCTTTTCTTTTTCTTCCTCAGAATAGTAAAGAACCTTGACTTCATTGTCTATAAGTTTGACAACTATGGGAAAACATTCATTAAGAAGCAGAAATGCAGCCCTGATGCCTTCATCCAGGTGGCCCTCCAGCTGGCCTTCTACAGGTGAGTGAAGGTGGAGTGAGTCTGTACCCTGGAGGGCTGACGGACACAGTGCTGTAGGATCTAGGGTCTAGAAGCATCCTGGAGGGAGGGACAGCCTTCTGTGGGCCTGGAAGACTGGAGAGGGACTGAGGCTGCATGAAGGAGGAGCAGACTGAACTGGGTTACAAATCCAACCTCAGAACAAGAAGGATGTGCCATCAGGGAACTGCCTGGGTGATGGCACAGGGGCACGGAGCTCCAAAGGACTGGAGTGTAGAGCTGAGAAGAGCCAGGAGGGGATGAGGACCATGGTTGGGGTTGGGGGGCTGCTCTCCATCCCAACTTCCCCCATCTCACCCAAGCCCTATTGCTGCAACCTGTTCCTCCCCAGTCTTCCCAATCTTGCTAAGGAAATGGAACCAGCAGCTCCCCCAGCTGATCAAGACAAAGATTTTGGACTCATCCTTGATTCTGCCCTTTCTCGTATCCCCGCACACTGCCATATCCGTTCTCCTCCAAATGTCTCTCACCTGCCCTCCACCTCCACTGCCATTGGCCCCTCCCAGGCCACCATCAGCTCATGCTTAGCCAACGGCAGCACTTCCCTAGGGTCACTGCTTCCAGTGTTGCCCCTGGTAATCCTGTCTTCATGAAGAGTGAACTTTGAAATATGCAAATCAGACTAGATTACTTTCCACATGAAACTTCCCAGCGCCTTCACACCAGGCTTAGAACAAAAGACAGGCTTAGAAGTGCCCCCTGTGGACTGGCCCCACCTGAGGCCCTCCCACACCCCCAGCTCTCTCCTGCCTCCTGACCTTTGCCCTGGCTGTGCCTCTGCCACCCACGGAAGGTGTGCGTGTGGGCTCAGGGTCACCACCCTCCACACGCACCAGCCCTTTCCAGCCCAGTTTCCATCCCTCGAAGCCTTTCCCCACCCCCTTATCTAAAGCAGCCCCCTGTGGCCCCCTTGCCACCCATTCTCTGTCATACCACATTGAATTTTCTTTTTCTTTCAGGCAGTTGTTACTTCTGTGAATTATCTTGTTTGCAGGTTTGCTGGCTTTGTTTTCTAGACTATCCCCGCGACCCTGACATTCTGGGCATCTCGCATGCCTCTGAGTCCCTAGCACCCACACCATACCTGGCACAGAGTAGGTGCCAGAGACTGAATCACAGACGGGAGGTTTAGCCAGAAGTGGTCCGGCCAGGTCTGGGATTTAGACCTGGTGGCCCAGGTAGCTGTGTGTCGGGGAAGGGGTGAATAGTAGGGAAATCAGGAGTGAAGGCAGGGGAGAGGTCAATTAGCCTTACAGGAGGCGAAGAAACCAAAATGTGAAATAGATCTTCCTGGAGATGGGGCCAGCTCCTGACAGTTCCAGGGCTGCAGAAGCAGCGGCTCATCAACTGCCTGCTATGAACGGTAAAGCTCTGCCCTCCAACCTGCTTTCAGTTTGCAACTTCCATGAAGGGCATAAAGTTACCCTGCAGTAAAGCTAGGGCAAGGCATTCTCACTAATGAACAGGCAGCACCCGTGTAGACACAGCAGCCCAGTGTCCCCTGCGGGGCTGTAATTCTCAAGGAAGTGAGTGCAGCCACTTTGAGTGTCTGTCCTGTCCGGACACCTTGGGGAAGGCCGATGTCATCCCACATGAGGACTGGGCTTGCTGCTGAGACTTGAAGAGGCAGAAACCTCACCAGTACTGAGATGCTGCAGGACCTGCCTGGCATTTGGAATGGTGGTCAGTGCCTTCTGATACTCAGAGGGCATGGGGCCGAGATAGGCCGTGAGGTCAGCATCCTGCCAGAGCCTCGACTGGGGATGCCACTAAGACCAGCTGCTCGGGACCTCTCTACTATGAGCACTTCCAAGTTTCAGATCCAGAGCTGAGGGGGACAGTGCAGCCTGCACAATGCACCCCTCCTCCTCCTGCCTGTGGGCTGTGCTG
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TTTCTCTAAAATGCAAACGCAGGGCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGTTTCACCTGACTGAGCAGAGTCAAGGCCGGGAAATCATCCCCTGCTTTAGGGGGAGTAATAAACAACTGGTTTGAATAGGTCATTTGAATTCAAGCTATTTAAATTTGCTTGAATGTACAGTGCAACTTGACAAAGGGGCCTTTTTCCCCAAGGGGAGGGGGCCGTTCAGGCCCTAACGGGACCCAGGCAGGAGGGCCTGGGGCAGCAGCAAGCAGTGGTGGCAGCCACATCCTGGCAACCACGTCTGCACTGTAGCTGTTGATTCTCCCATTCAGTAAGCAAGCACGAATGCATTCATTCACTGGTTTGCTCATTCATTCATCAAACATGTGCAGAGCTCTGGTGTGCACCCGGCCCGTGGTAAGGCTCTGAGAACACAGAAAGTTAAGTACCATGGGACCTGCACTCCATATTTGAGTGGAATAAGTAGACTCCCAGGCCAAAACATGTGATACAGTAAGATTAATGCCAAAAGCAGAAACAGCCATGCTGACCTGAACCCACAAAAATATAGAAGCTGAACTCTGTCAGGACTGTGAGGGAGGGCCTTGTAGAGACGGGCCTTGAAGGATGGATAGGAGTTCATGGTGCAAGCAGATGGGGAAGAGGCAGAAAGGCAGCTTCTTCAAGCTTGTACAAGTTCATAATGATGAAGGCTGGTTTGGAGACCAGCAAGTGAGAGAATGGCCAGAGTGGGGCCACAAAAAGGAAGTTGGGCCACACTGTGATGAGTGTCACTGTCCTGTTATGGGCCTAGAGCCTGCCCTGCCACTGGAGGGTTCTGTGCAGGGGGTATGGGGACGCCCCTGAGGAGGCTGTGGGAAGGGCACATGTGAGCAGGACAGAGTGTGGCCAGGCTGGGAAGCTGAAGAGCGGGAAGGACCCATCCACTGGGAGCTGCTGGAGAGGTTGCCTGGCTTCAGTGGGCATGGAGGGGCCTCAGGTGTTCTATAAAGTGGTGCTCACATCTCAGCTTTGCAGGGTTGTTCAGGAGCTAAGTCAGGGGCCAAGGCAGTGAGCTGGTGGGCTGCTGAGTCCTCAGTGGGTAAAGGAGTCCACTCACTTCCAGGGACCTGAGCAGACCCCACATTCCCCAAGGCCCCCAGCTCCACCCTCCAGAGGCTGAGGAGAGCCAGGAAAGGCCCATGGATGGGGAAGAAGGAGGCTTCTTCCTGGGGGTCCTGAGGGGCCCATACAAGTGGGTGAGGCCCGAGTGGGCACAGCTTGGGGGAGAGATTTCCAGGTGGCTGTGGTGATAGTGAGCTCAGTCTGTCCCAGACGTCTGTCAACAGGTAGGTCTAAGGAGCGAGTACTCATGGGAACTGGGTCTCCTCCAAGTCCCCCTGTGTTCCTAGCACCTGGCCCCACCGAGAGCTGAGCTGCTGTGAGCAGGAGGAATACTTCAAGGAGAGGCAGGCAGGGAGCATGGAGTCCCGACAGAAGGTGTGCGTGTGGGCTCGGGGTTCCCACTCAGGCTATGCGCTCTCCAGTGGGGAGGCACATAGACCTTGCCAGACACTGCTCCAGTGGGCAGTCAGCTCAGACCCCAGACTCCTGATGGAGGAGGAGATTGTTCAATATGAGGGTCAGCCAGTGCTCCAGAGTCTCAGTGCAGACTTGGAAAATGTTCCTGTTACTCCGACAGTGAATTACAAAATCCCGGGCATGTCACCTGTGTCACAGTTAATCCCTGACTCACTAACACAGCCAGGCCCACCTCCCCACCCACTCTCCAGAGCAGGGCCGACACCCCACTCAGCTGAGCTCACCTTGGGTCATAGTAGTCCTGGCCTGGTTTGTCTTCTGACACTTTCATAGGTCAAGGCATGTCTCTGACACCTCAGTGCACTCCTGAAGGGCAGGGACTACGTCCGCACCTTCCAGAACGCTAGGACACAGACCAGGCTCTAGAAGCCCGGGGAAACCCCAGATGCATGCATACTGTTTTGCATGCAATAAAAACATCTTTTCTTTTTCTTCCTCAGAATATTAAAGAACCTTGACTTCATTGTCTATAAGTTTGACAACTATGGGAAAACATTCATTAAGAAGCAGAAATGCAGCCCTGATGCCTTCATCCAGGTGGCCCTCCAGCTGGCCTTCTACAGGTGAGTGAAGGTGGAGTGAGTCTGTACCCTGGAGGGCTGACGGACACAGTGCTGTAGGATCTAGGGTCTAGAAGCATCCTGGAGGGAGGGACAGCCTTCTGTGGGCCTGGAAGACTGGAGAGGGACTGAGGCTGCATGAAGGAGGAGCAGACTGAACTGGGTTACAAATCCAACCTCAGAACAAGAAGGATGTGCCATCAGGGAACTGCCTGGGTGATGGCACAGGGGCACGGAGCTCCAAAGGACTGGAGTGTAGAGCTGAGAAGAGCCAGGAGGGGATGAGGACCATGGTTGGGGTTGGGGGGCTGCTCTCCATCCCAACTTCCCCCATCTCACCCAAGCCCTATTGCTGCAACCTGTTCCTCCCCAGTCTTCCCAATCTTGCTAAGGAAATGGAACCAGCAGCTCCCCCAGCTGATCAAGACAAAGATTTTGGACTCATCCTTGATTCTGCCCTTTCTCGTATCCCCGCACACTGCCATATCCGTTCTCCTCCAAATGTCTCTCACCTGCCCTCCACCTCCACTGCCATTGGCCCCTCCCAGGCCACCATCAGCTCATGCTTAGCCAACGGCAGCACTTCCCTAGGGTCACTGCTTCCAGTGTTGCCCCTGGTAATCCTGTCTTCATGAAGAGTGAACTTTGAAATATGCAAATCAGACTAGATTACTTTCCACATGAAACTTCCCAGCGCCTTCACACCAGGCTTAGAACAAAAGACAGGCTTAGAAGTGCCCCCTGTGGACTGGCCCCACCTGAGGCCCTCCCACACCCCCAGCTCTCTCCTGCCTCCTGACCTTTGCCCTGGCTGTGCCTCTGCCACCCACGGAAGGTGTGCGTGTGGGCTCAGGGTCACCACCCTCCACACGCACCAGCCCTTTCCAGCCCAGTTTCCATCCCTCGAAGCCTTTCCCCACCCCCTTATCTAAAGCAGCCCCCTGTGGCCCCCTTGCCACCCATTCTCTGTCATACCACATTGAATTTTCTTTTTCTTTCAGGCAGTTGTTACTTCTGTGAATTATCTTGTTTGCAGGTTTGCTGGCTTTGTTTTCTAGACTATCCCCGCGACCCTGACATTCTGGGCATCTCGCATGCCTCTGAGTCCCTAGCACCCACACCATACCTGGCACAGAGTAGGTGCCAGAGACTGAATCACAGACGGGAGGTTTAGCCAGAAGTGGTCCGGCCAGGTCTGGGATTTAGACCTGGTGGCCCAGGTAGCTGTGTGTCGGGGAAGGGGTGAATAGTAGGGAAATCAGGAGTGAAGGCAGGGGAGAGGTCAATTAGCCTTACAGGAGGCGAAGAAACCAAAATGTGAAATAGATCTTCCTGGAGATGGGGCCAGCTCCTGACAGTTCCAGGGCTGCAGAAGCAGCGGCTCATCAACTGCCTGCTATGAACGGTAAAGCTCTGCCCTCCAACCTGCTTTCAGTTTGCAACTTCCATGAAGGGCATAAAGTTACCCTGCAGTAAAGCTAGGGCAAGGCATTCTCACTAATGAACAGGCAGCACCCGTGTAGACACAGCAGCCCAGTGTCCCCTGCGGGGCTGTAATTCTCAAGGAAGTGAGTGCAGCCACTTTGAGTGTCTGTCCTGTCCGGACACCTTGGGGAAGGCCGATGTCATCCCACATGAGGACTGGGCTTGCTGCTGAGACTTGAAGAGGCAGAAACCTCACCAGTACTGAGATGCTGCAGGACCTGCCTGGCATTTGGAATGGTGGTCAGTGCCTTCTGATACTCAGAGGGCATGGGGCCGAGATAGGCCGTGAGGTCAGCATCCTGCCAGAGCCTCGACTGGGGATGCCACTAAGACCAGCTGCTCGGGACCTCTCTACTATGAGCACTTCCAAGTTTCAGATCCAGAGCTGAGGGGGACAGTGCAGCCTGCACAATGCACCCCTCCTCCTCCTGCCTGTGGGCTGTGCTG
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Task1_train_13904
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The gene CHAT (choline O-acetyltransferase) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Familial infantile myasthenia
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GATTTCTAAACGATATAAATATATGACAATAACAACTTTAAATTTATTAAAATGTCTAGGAAAACACCCTCCAAAGCATTGCCATAGGGTTGTGTTAATAATTTTAAGTTGATGAGAACAACCAAATCAAAGAGATGGGTTTGGGGAAAGGAGAGATACAAAGATGCTTAGGATGTGAATCTGGTGTGTGGTTGGACATGGAGGGTAAGGAAAGGGGGAAAGAAGCAAGGAAACCTAATAACTGGTAAGCATATTTGCCAGTGGTCGTGGAGAAATAAAGTTCCAATGGCAAGGTGGTCCAGAGCCCCCATCACTTACTCTCCCACTTCTATGTTTTCCCTTCCTCACACTTGAGTTTATGATCATGTTTTTTTGCATGGTTGATGAAATCTGTCCCCCACTACACCATAAGCTCCACAAGGACTGAGTCTACAACTGTCTTGTTCTCTGTTGTGGCTACAGGACCCGCGGCACCAGGCATATAGTAGGCACTCAATTAAGATTCCCTAAATGAATGAATGAAAGACTGAATTATAAGTCATTTTACTCGTTATTACTCATGGCTCTGAGCCAAACAACCTGTGAACTCAGTCTCTCTTGCTACAGTTATTCCAAGGTGGTGAAAAGAGGGGTGAGTTGACTGTTCACAGGGAAGCTGCTTCTATGGACCAACACAAATCAGGAATTAAATAGAGGAAACCAGAGAAATTAAAAGAGTAGTCTCCTTCATAGATGGGCTCACCGTTCTTTCCTTCGGTCCTAACAGGTAGGGCACGTCTAAAGTGAGCTGTGGTTGTGTAATGTTTGTCTTTTCAGCCTCTAATTAGGTGCGTTCAGAGAGACCAGAGCCTGAGTCATCTTTATGCATTCATTCGCAACTGAAAGAGAACAGCTGTCAAATCCCTAAACGTGCCTTGTAAACCTATACCAAGTTCATTGTGAATGGGAAGTTTCCTCCTGTGCAGGGCTTTGACAGCTAACTGGCCATCCTACAGAACTGTGAAACCCCAAGAGTTACTCACAGTTACCCTGATGTTGACCCAAAAGTGATTACTATGGGTCAGGGTGGCCCCCTGAGTCTCCATCAGCCCCTAGAATTGCTCCAAATAAACATGCAGTCCAAAAAACCAGTGTGCATACTACATACCCAGCCTCAAGTGGGGGAGCTGTAGAATGAGTACCCGGCCCCACTTCCAGACACCTCACCCTCCGTGAACCCCTCCTACATTGACATCCTGGAGCTTTCTCTATATTTCTATCCTTTGATAAAAGTTTAAATATCTTGTGATAAAAAGAAAAAGAACTTTTATTATTCAACAGGCTCTTTCCCCTTGAAAATGTCAGTTGAGCCTGCTAAGGGGTCTAGTTCCTGTCTCAAAACGATTTCTTAGATTATGGATCCAGTTTAAATGAATTGATCCTGAGCCATGAAATAGCAGCCAAGATTCAGTAACAGATCTCACACCCTCTATCCTCTATCTCTTGTTCCCTGGGCTCCTACTGGAGGAGACAGCGCTGGTTGTGGTGGGAGTCTGTTCAGGACAGCCTGGGACGCCCTTCACAATGCTTGCACAGGATCCGGTAGTCTCCAAGCTCTGCACACAGCCTTCTTCCCAAACTCTCTCCCTGCCCAAGCAGTTGGTAGTTGAGAAGACCAGGCCAGCCCCATTCTTTCCACTTAGAGAACCAGGCGGATATAGTTGTGTAGGGGATGCTCAGACTCACTAACCTTTAGCTCAGATGTCTCAAGCTAGAACCCAACCTGCTCTGGACTCATTCAGTGCATGTGGAAATGCGCAAGGGCCCGGGAGCAGAGGCCGCATGGTAGAGCGGTCAGTCCTGAGCAGCCACTCATACACATTGTTGGCAGCAGGCACTGGGTAAGCATGAGCCGTGGCTGCTGGAGTCACCAGCAGTCCTGTAGACTACAGAGCAGGGAACAAGGAGGTGCAGGAGGCCCACTTCTCATCTCCTGTTCTTTGTCCCCAACTACACAGGCCATAACAGGGATGGCCATTGACAACCACCTGCTGGCACTGCGGGAGCTGGCCCGGGCCATGTGCAAGGAGCTGCCCGAGATGTTCATGGATGAAACCTACCTGATGAGCAACCGGTTTGTCCTCTCCACTAGCCAGGTACGGCCCCGTGCAGCTATCGCCCAAGAGTAGTGTAGTCAGTAAGCTTTCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAG
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GATTTCTAAACGATATAAATATATGACAATAACAACTTTAAATTTATTAAAATGTCTAGGAAAACACCCTCCAAAGCATTGCCATAGGGTTGTGTTAATAATTTTAAGTTGATGAGAACAACCAAATCAAAGAGATGGGTTTGGGGAAAGGAGAGATACAAAGATGCTTAGGATGTGAATCTGGTGTGTGGTTGGACATGGAGGGTAAGGAAAGGGGGAAAGAAGCAAGGAAACCTAATAACTGGTAAGCATATTTGCCAGTGGTCGTGGAGAAATAAAGTTCCAATGGCAAGGTGGTCCAGAGCCCCCATCACTTACTCTCCCACTTCTATGTTTTCCCTTCCTCACACTTGAGTTTATGATCATGTTTTTTTGCATGGTTGATGAAATCTGTCCCCCACTACACCATAAGCTCCACAAGGACTGAGTCTACAACTGTCTTGTTCTCTGTTGTGGCTACAGGACCCGCGGCACCAGGCATATAGTAGGCACTCAATTAAGATTCCCTAAATGAATGAATGAAAGACTGAATTATAAGTCATTTTACTCGTTATTACTCATGGCTCTGAGCCAAACAACCTGTGAACTCAGTCTCTCTTGCTACAGTTATTCCAAGGTGGTGAAAAGAGGGGTGAGTTGACTGTTCACAGGGAAGCTGCTTCTATGGACCAACACAAATCAGGAATTAAATAGAGGAAACCAGAGAAATTAAAAGAGTAGTCTCCTTCATAGATGGGCTCACCGTTCTTTCCTTCGGTCCTAACAGGTAGGGCACGTCTAAAGTGAGCTGTGGTTGTGTAATGTTTGTCTTTTCAGCCTCTAATTAGGTGCGTTCAGAGAGACCAGAGCCTGAGTCATCTTTATGCATTCATTCGCAACTGAAAGAGAACAGCTGTCAAATCCCTAAACGTGCCTTGTAAACCTATACCAAGTTCATTGTGAATGGGAAGTTTCCTCCTGTGCAGGGCTTTGACAGCTAACTGGCCATCCTACAGAACTGTGAAACCCCAAGAGTTACTCACAGTTACCCTGATGTTGACCCAAAAGTGATTACTATGGGTCAGGGTGGCCCCCTGAGTCTCCATCAGCCCCTAGAATTGCTCCAAATAAACATGCAGTCCAAAAAACCAGTGTGCATACTACATACCCAGCCTCAAGTGGGGGAGCTGTAGAATGAGTACCCGGCCCCACTTCCAGACACCTCACCCTCCGTGAACCCCTCCTACATTGACATCCTGGAGCTTTCTCTATATTTCTATCCTTTGATAAAAGTTTAAATATCTTGTGATAAAAAGAAAAAGAACTTTTATTATTCAACAGGCTCTTTCCCCTTGAAAATGTCAGTTGAGCCTGCTAAGGGGTCTAGTTCCTGTCTCAAAACGATTTCTTAGATTATGGATCCAGTTTAAATGAATTGATCCTGAGCCATGAAATAGCAGCCAAGATTCAGTAACAGATCTCACACCCTCTATCCTCTATCTCTTGTTCCCTGGGCTCCTACTGGAGGAGACAGCGCTGGTTGTGGTGGGAGTCTGTTCAGGACAGCCTGGGACGCCCTTCACAATGCTTGCACAGGATCCGGTAGTCTCCAAGCTCTGCACACAGCCTTCTTCCCAAACTCTCTCCCTGCCCAAGCAGTTGGTAGTTGAGAAGACCAGGCCAGCCCCATTCTTTCCACTTAGAGAACCAGGCGGATATAGTTGTGTAGGGGATGCTCAGACTCACTAACCTTTAGCTCAGATGTCTCAAGCTAGAACCCAACCTGCTCTGGACTCATTCAGTGCATGTGGAAATGCGCAAGGGCCCGGGAGCAGAGGCCGCATGGTAGAGCGGTCAGTCCTGAGCAGCCACTCATACACATTGTTGGCAGCAGGCACTGGGTAAGCATGAGCCGTGGCTGCTGGAGTCACCAGCAGTCCTGTAGACTACAGAGCAGGGAACAAGGAGGTGCAGGAGGCCCACTTCTCATCTCCTGTTCTTTGTCCCCAACTACACAGGCCATAACAGGGATGGCCATTGACAACCACCTGCTGGCACTGCGGGAGCTGACCCGGGCCATGTGCAAGGAGCTGCCCGAGATGTTCATGGATGAAACCTACCTGATGAGCAACCGGTTTGTCCTCTCCACTAGCCAGGTACGGCCCCGTGCAGCTATCGCCCAAGAGTAGTGTAGTCAGTAAGCTTTCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAG
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Task1_train_13905
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A change on Chromosome 10 affects gene CHAT (choline O-acetyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Respiratory insufficiency
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13906
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Here is a mutation in CHAT (choline O-acetyltransferase) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Aspiration pneumonia
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13907
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This is a variant in CHAT (choline O-acetyltransferase), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Gastroesophageal reflux
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13908
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This alteration occurs within gene CHAT (choline O-acetyltransferase) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; Decreased activity of the pyruvate dehydrogenase complex
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13909
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A change on Chromosome 10 affects gene CHAT (choline O-acetyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Progressive muscle weakness
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13910
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A variant found in Chromosome 10 affects CHAT (choline O-acetyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Progressive ptosis
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13911
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Gene CHAT (choline O-acetyltransferase) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Apnea, central sleep
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13912
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Consider a variant on Chromosome 10 in gene CHAT (choline O-acetyltransferase). Determine its clinical classification and disease relevance.
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Pathogenic; External ophthalmoplegia
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13913
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The gene CHAT (choline O-acetyltransferase), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Febrile seizure (within the age range of 3 months to 6 years)
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13914
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The gene CHAT (choline O-acetyltransferase) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Pes planus
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13915
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This variant affects the gene CHAT (choline O-acetyltransferase) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Lactic acidosis
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13916
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Here is a genetic alteration in CHAT (choline O-acetyltransferase) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Familial infantile myasthenia
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAGCTGGGGAGGTGGAGATTGCAGTGAGCCCTGATTGCACCACTGCATTCCAGCCCAGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAAGGAAGAAGAAGGTTTCCCATCTCCTAAATGGGAGTAATCAGCAGACCCTACTTAGCCGAGGTGGAGACAGTACAGGAACATACCCATTCTGGTGCCCTAACCATTACACCTTACTACCTTTCAATCTATTGCCGCGGTTTCCACGGGCTCTGATGCCCAGCAGGTCTGCAGTGAAGTCTTGGCTTGGCCAGATACAATTATGTAGGGAGAAAGCCCAGCCCAGGGCCTGGCATGGACAGGGCCCTCTAAATAGGTCACAGATATTATTATAAAGGGCCACGCAACCAACAGCAGAACATTCGTGGCCAGCCCAACATCTAACCAGTGCCTCAGCGTGTCCTGTATGAGAGCCACTGCCACAAAGACAGAATGCAATCCATTAGAGAGAGGTCGTGGTTTAGGAGGGGAAATGCCCCACAGCCATCAATTTACTAAAATGCCACCTCATCTGCGAAAGGCTGGATGGGCAGTACTGGAGTTGATAAGCTGTGTTTGAGGACAGAAGCCCACTCAGTAATGGGATGTTGTCATTATGGCAGTGAGCATGCAGACGTGAATAAACGAGGACAGAACACAGCACCATAAATTTCTCAGGAAATCATCCATGGGCAAAAAGTGCTTTGGAATGGCTTTATGGCCTTCGGCTATTGCACGGCAAATTTATCTGACAATGTGGTGACTCTATTAGCAAGACTAATGGTTTGTTCTGCCCCATTAAAACAGCCAGTGTCACTTCCAAAGGCCTCAGCACACAGCACCAGAAACCTGTAGGTTTAAAACAAACCAGGCCCTGCACCTGCCCAAGAATCCTTTCTATTTTTTTTCCCAAGGACCAGCTAATAAAATTAATCTGGGGTGTGGGAGTTTTGTTGTTTTCCAACTGGAAAGCAGCATTTATGGCTTGAATGCTTTCAGAAACATACTTTCTTGGTTTGTGATCTGGATTACAAAATCTCAGCACTCTGATTCAAAACATACTAGGTGCATAAGTAAAACTGATGGCAATCTTTGAAACACCCAACTCTGGGTAATTGTGCATGGCCAGGCTGCAGGGAGAAATCAGAGAAGCCAGGCAATACTGACAGTAATTAAGGATCTGGGGGAAATCGACACAGAGGATGGGCCAGATTTCCTCCAGTTCATAAATTCCTCCCTCCGGAAAGCATCTAACTATGGGGTGCCACCAGGGGACCATTTAGTAAATTACCTGATTGCCTCCGTGCCTCAAATGGCCCCCAGGTGAAGTGGAGACTCAGCCCAAGACCTAGCACCAGGTCACTCCGGGAGCTTCCAACTCCACAAGTAGAGCAGATTGCACACCAGGGAGTGGGCTTGGGGCCCCTCATCCTCTGATATCATGCAGTTAGATGGGTCTGTTTTTATGACTCTGGCTGTGTCCATCCATGCTAAAGCAATCACTTGATTTGGTTAATTCAGTCAAACCCCCAGGTGGAAAACAGAGAAGCCAAGCCCAGTCGAGGCTGGCGGGCTGCATTCCAGAACAAGCAGCTCCTGACCTGTCCTCTCCTCCAGGTGCCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCCTGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTGTAGCTTTCACAGCTGCAAAGAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGACCTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACGAGGCCCAGCCAGGGACACCAACCTTGACTCCTGCCACTAGGTTTCACCTCCCAAACCCAGCCTCTAGAACAGCCAGACCCTGCAGATCCCCACTCCCGTCCCTTACCCCAGCTTTCCACAGCTCCCTGTCCTCAGGGTCCAACTCACAGACCATACAGAGACATCACACAGAGCCGGAGTGTTAGGAGGAAAGGGTCCCCTCTTCATGCATGGGAATCATCATTTTCAAGGTGGCTTTGGGCCTGCACACTGGGAAATGGGACCTGCCTGGCTCAGAGGCAGCCTGGATGCACTGGGGAACCACACTAAGGACTCCTTCTGTGGTCCTTGGAAGCTTAGTGTTCATGTCTCCTTCCCTAGCAGGACCTAGTATGTCCAGGTGATGCTTCTGCCCAAGGAAAGGATGAGTCACTCTATTACATGCAACGTACCTAATGAGTTAGGAAGGAAGAGGCTAACTCCAGGTCATTACCTCTTTTCTTTTTTGGGGGAGAGGAGGCTGTGTTTTGAGATTCAGAGCATTCTTATCGTGGCATTCCCAGTGTCTCCACTGAGCCGTACAGTCCTACAAGCACCCACTCCTCCCACACACACCACAGAGCCCAAGTCCATTTAAAATATAGTGACTTGGGCCCACAAACACATTTCTGCTTTCGTGCCCAGGGGCAGCCTTCTGTTGAGCTCAGAAAATTGTGTCCAGCTATTCTGAAAGGAAAAAAAAATTTATCTGTGACTGCCCTGGAGTTGCTGCCACTCTCTGCTTAGCAGGCGGCATCAGGGCCAGTCCAAGATGAGTAAACTGCACAGCCCCAAGCAGATGGTGCCTGGTGCCGGTGGGTTTGCAGAGGACCTGGCCCCTTCCCGGGGTCCTGCCATTTGCATTTTTTCTGCATCTTTTCCCCTCTCCTCCCCTCCTACATGCTCCAGTAGGTGAAGAGAGATGGTTACTTTGGGTTTTTCCATTATCTGTTTTGTTTTAAGACAGAGATTTTTAAGAAAACCACCCTGACATTAATTTCAGAAATTCTTAGTGATTCAAGCAGGACCCTTAGGCAGCTGGGCTCCTTTATTTGGAGCAGGCTATCCAGGGACTCTGACAAAAACCCATGTGGTAGAGCCTAGAGCAGGGCTCTCTTCTGGCCTCAGGGACTTAGGGGACAGCTGGCAGGGAGCAGGGCTGGGAGGAGGGCACAGCCTCCTCCAGAGTCAGCCCCAGCCCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCCCCAGCTCCAGCTCCAGCATGGGCAGGACAGGCAGGTCAGCAGAGGCAGAGTTGAGATGTCTCCAGAGACTGTGATCATAGGAGAGACACAAGAGGCACTTCCTATTAGAGCACATTTTTATGGGAAGTCTAAAGGGCAGAGGGAGGGAGTAAGAAAGCAACCAGAGAAATCTACAGCATAGAGCCCGTGTGTTCTGCTCCACATCCCTCCAATCCTGCTGCTTCCTGCTGAGCACTCTGCTCTAGCCCAGCAATCCTGTAGGTCTCCCTTCTTTGTGCCACTGTGAAGGCTCTCCACACTTCGACCTGGACTGTCACAGGCTGGCAGAGGTGGGGTGGGCATTTGACCTTTGCTCAGCTCTTTGAAAACACAAGCAGCCTCAAGAAGTGAGTTCCTTGAACCCCTGGTTTTAGATGGAGGATCTCTATTAGATGTCATGGGAGATTTGGGCACTACCCTTTGAACATACAAACTTAAGTCATTGGCCTGAGATTTATGCTCCTTCCCTCCCACGGCCACCTTCCTACTCTGCTTAGGAAGTTGCAGCACAAGGGTCCTGGGTTTTCTGGGGAAAGGCAGCCCACCTGCTGTAAGTTGGCCCAAAGCTACTTGTCTGTTCTCTCCAAGTGACCACAGTGCAGATCTGAG
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Task1_train_13917
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This alteration in OGDHL (oxoglutarate dehydrogenase L) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Yoon-Bellen neurodevelopmental syndrome
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GGGACTAAGGCTCCAAGGACTACATAACCGGCCTAAGATCTAAGGCAGGAGTTTTGAGACATGTAGCAGGTTCCTTAATACAGTTCTGGCTGCAGAACAAACACAAAGCCAGTACTGATGATGCCCCATCATTGCTCATCACCAGAGAAGGGCAGGGCCAGTTCTGGGTAGCATGGCCTATGGGACAGATGGAGCCAGGACAGAGCCTCAGGGCCGAGGTGAGGGGCAATCAGCGGCCCCACCATGTACCATATGGGCCGTGCGCGCCTCAGGATGGTCATGAAGCGTGGGCTGATGTAGTCATAGTAGCCCATGTTCTTGTGCTCCTCCTGACACCAGGCCAGCTCCGCACCTGGGTACTTCTCTGCCTCCTGCTTGATCAGGTCGAAGGGGAATGGAGAGATCTGGGGAGGCAGAAACAAAGGAGCATAGCCAGAGGAGGGGCGGTATGTCCCCAGCACCCCCGGACAGGAGGCACAGGGCCTCACCGGCCTTCATCTGGCCTGCCTGGCACATTGGCCAGAGCCGGGGCCAGCGACGTGAGCTTGCCCATCACTTGACTGTACAAGGGGTTCAGGCACACCTGCTCCAGGCGCGTGATGGCCACTTTCTCCTCCAGGTCCTGGCTGCTCCGCTCCTTCACCAGGTCATAGTACACCTTTCCCGTGCAGAAGATGAGCCGCTGCACCTGCTCAGGGGCCCGTGCTGCGGCCCCATCTTCAGGAATCACCCGCTGGAAGCTGGTCCCTGAGGGACCAACAGGACATGGCAGAGGCGTTGGTACCCAGAGGGGCTGGGGCAGCTCAGGACCAGGCCTGCATCCCCAGGCTCTCCTTAGCCACTGACACTAACTGCAGGTTTGGACTTGTGGCTGCAGTGGACACCTCTTGAACTAAAAGATGGAGCAGGGGGCAGATGACACCCTGAGCTGTCATAGGGAGAGGGGTGGAGACACCCAAGGGTTGAGCCCTGGAAGCATCACGTTTAAGGTGACCGGAGGTGGGGGTACAATAAGAAGCGCCCTGAAGGAGACAGAGAAGGCAACATGATGGCATCATCCTTTGCCCCAACCTTGCTTCTGCCCAGCTGCGCCCACCTCCTGCAGAGCACTGCAGTCCCCCACCACTAAGCAGATGTCCCAGGAGGCTGCTGCATGCTCCTCCTCTTTCAGCCTGGCAGCTGAGCTTCACCTCCAAGCCCCAACCATTCTTCCTTCCTGAGCCCATGATCCTGACCCCAGGTCACGCACACTGCAAAACCTCTCAGGAAGCTACTGTAGTGTCCTCACATCCCTGCATCTCAGGTGAAGACTCTGGGGTAGAGAGGACAAATGGATCCCAGGCCCTCAAGAGAGAAGCCAGCACAGGGCAGGTAGCCCAGGTAGTCCAGTCCCGACATCAGAGCTCTAACAGCTGCCCACCTGCACAGAGGGGACATCCAAACACACATGGGAGAAAATCCAACCCCTGTCCATGCTGAGGCCCTTCCCAGCCCTCCCTCTACTGCCCAGGACCATTTTCCAAGACAGCTCTGCTCCACCAGCCTCACACCTGTCCTTCCCTGGACATAGTCACCTCTCAGTTGCAACTATAGTGTTTTATCTGATCTGACTCCCAGGGAAATAAGGCCAAAGACTCCTGGAGGGGACACCAGGACCCCAGGGCCTGTAATGTCTGTTTGGCTCATGAATTTTTAAAATGGACAAATGAATGAATGATACTCAATATCTTGCGAACTCAGCAGGCCTCTGCCAGGCCTCGACCAGCCCTGCTAGGGTCTAAGGGGGCCCCAGTGGACTCTACCATGGACGCAACCCACATGACCTGAGCTGGCCCAGGTCAGCCATTGTGCCAACCTCCCAACCCTACTGCTAGTGGGACCATGCCAGGAGCTGCTGCAGGTCAGCAGAGCCACAGGCAGAGGGGAGGTTGGAGAAGCCCCAGAAGCAGAAGCCACACAATGGGCCACCGCCCCATTGTGGGCTACCCCACACACCCAGGCCAGGCACGTACCGGATACCATTTGGTCAAAGCTGGACTTGGCCTCTGGGTGCCTCAGCAGAGATTTAGGTGTGAAGATAATCAGCTGGAAGGGAAATACACGCCCAGCTGCCAGCTGGCCCTGCCTGGCCAGGCCCCCTGCCTGTGACCCCTGCCCTGGGACGGAGACTCACCGGCTTGCGGAAGGGCAGCAGGATCTGCCGGCGCAGCACGTGGAAGTAGTTGGCCGGTGTGGAGCAGTTGACCACGATCCAGTTGCAGTCATAGAGCTGGCTCACCTCGAAGTCCTTGGTGAATGCCTGTGGGGACGAGATGCATATGGCCAGGGTGGCTGTCTGCTGCACCCACACCCTGGACCCCTAGCCCTGTGGGCACAATAGGGCGCGTCCCTGTCCTGGGGACAGCAGCAACACTCACAGGGTAGGCATCCGAGTCATCATTGCTCATCTGCAGGAACCTTTCGGGCCTCGCTGACGAGTGCTCTGGGCCCTGAAAGCAAACGCCAGACAGCCAAGGCTGGACCCCACCATGGGAAAGACATCTGGCCCTGCAGGGACCCCAGGCTCAGGGGAAAGTCTGGAGGGCTTCTCAGCAGAGGTGCCCTCACCCTGGAGCCTGAACCATAGAAAAGAACCAAGAATGTGGAACAAGAGCAGAATGGGAATCCTCAGAGTGGGGTCTGCCCAGAGCTAGCACAGTATGTGAACTTGCAGGGACAGAAGAAAAAGCAAAAAGCCCGCACTGAGACGTGCTTTCTCTGGAATGTCCTGGAACAGTGGCTGCCACTGACTGAGCACCTGCTGTACAGGAGGCAGAGTTCTAGGAATCCCACACGCCTTATCGCTAACCCCCAAAGTAGCCCCATGATGCAGACACTCTTCCCCACTGCACAGATGAAGAGGCAAGGAGAGGGTAAGAAACCACCCATGACCACACAGCCAGGCAGGGGCCAACCCAACTCGGCCTGGGCCTCGCCCACCCTCACCCACACGGACCGCTCTGCTCCATGAAAGCAGCAAGACAAGCCCAGGGGCATCTCCAAGCCAGCTCCTGCAGGACGGGGATGACCCACTGCACAGCTGCCACTTGCCCTCTCTTGGTGGGGACGGCCAAGGACCCAGCCCCCCACACCCAGCCTGGCCCAGATCTGGCCTCCCAAGAAGCTGCCTTCACGGCAGGCAGCCCCAAGCAGGGAGCCTCACCTCCCTCCTCACTGATACCCGGTGTTGTGAGGATGCCGAGTATGCAGCCTGTAAAGTGCTCATAACATGCCACTCAGGGATAATGGTGGCAATGAGCCCCCTGCCTGTCTCCCTTCTGCCTGGTCAGGCCACCTGCCCACCAGATGGTATCACATGACACCCTGCTCCTTCCTCCCTTCCTGCTAGCCCAGGAGCCTCCGGAGGATGCACCCAGCCTGCATGTCTTCCCTCTGCCCCATGTGTGGCTGCAGAGGCAGGTCATACAGGAGGGGACCAGAGAACAGGCAGTACTGCACAGGATAGCTTCAAACCCCAGCTACTAGCTGTGAAACCTTGGGCAACCTACTCCCCAGCTCTGTGCCTCTGTTTCCTCATCTGAAAAGCAGGAACACAGCCTACTTCATTAAGTTGTATGGATTGGAAGAGTTAACATTCAGAAGCATTGAACAGTGCCTGGCGCACAGCAAGCACTCATACGTGGTAGCGCCTTCTGCTGCCAGGGGTAGCATCATCGTCTCAGCAGCTGCAGCATGCACATGTGCAGACCCCACCCTGCACAGACCCACGTGCTCCAGGGGCCTGGAAGGCATATACCGTCCAACCCGACAAGGGGCCCAGGGTCCATCCCGCCCCTTCAAGGCCCGCCAGAACCCACCAAGCCACCAGCCACCACCGCAGCCCTCACCATGCCTTCCATGCCATGGGGCAGCAGCAGCACAATGCCATTATGCCGCACCCACTTGGCCTGGCCGGTGCTGATGAACTGGTCGATGATGCACTGGGCCGTGTTGTGGAAGTCCCCAAACTGGGCCTCCCAGAGGACCAGGGCATTGGGGCTGGCCATGGCATAGCCCAGCTCAAAGCCTAAACAGAAGACAAGATAGAGCTTGCTGC
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GGGACTAAGGCTCCAAGGACTACATAACCGGCCTAAGATCTAAGGCAGGAGTTTTGAGACATGTAGCAGGTTCCTTAATACAGTTCTGGCTGCAGAACAAACACAAAGCCAGTACTGATGATGCCCCATCATTGCTCATCACCAGAGAAGGGCAGGGCCAGTTCTGGGTAGCATGGCCTATGGGACAGATGGAGCCAGGACAGAGCCTCAGGGCCGAGGTGAGGGGCAATCAGCGGCCCCACCATGTACCATATGGGCCGTGCGCGCCTCAGGATGGTCATGAAGCGTGGGCTGATGTAGTCATAGTAGCCCATGTTCTTGTGCTCCTCCTGACACCAGGCCAGCTCCGCACCTGGGTACTTCTCTGCCTCCTGCTTGATCAGGTCGAAGGGGAATGGAGAGATCTGGGGAGGCAGAAACAAAGGAGCATAGCCAGAGGAGGGGCGGTATGTCCCCAGCACCCCCGGACAGGAGGCACAGGGCCTCACCGGCCTTCATCTGGCCTGCCTGGCACATTGGCCAGAGCCGGGGCCAGCGACGTGAGCTTGCCCATCACTTGACTGTACAAGGGGTTCAGGCACACCTGCTCCAGGCGCGTGATGGCCACTTTCTCCTCCAGGTCCTGGCTGCTCCGCTCCTTCACCAGGTCATAGTACACCTTTCCCGTGCAGAAGATGAGCCGCTGCACCTGCTCAGGGGCCCGTGCTGCGGCCCCATCTTCAGGAATCACCCGCTGGAAGCTGGTCCCTGAGGGACCAACAGGACATGGCAGAGGCGTTGGTACCCAGAGGGGCTGGGGCAGCTCAGGACCAGGCCTGCATCCCCAGGCTCTCCTTAGCCACTGACACTAACTGCAGGTTTGGACTTGTGGCTGCAGTGGACACCTCTTGAACTAAAAGATGGAGCAGGGGGCAGATGACACCCTGAGCTGTCATAGGGAGAGGGGTGGAGACACCCAAGGGTTGAGCCCTGGAAGCATCACGTTTAAGGTGACCGGAGGTGGGGGTACAATAAGAAGCGCCCTGAAGGAGACAGAGAAGGCAACATGATGGCATCATCCTTTGCCCCAACCTTGCTTCTGCCCAGCTGCGCCCACCTCCTGCAGAGCACTGCAGTCCCCCACCACTAAGCAGATGTCCCAGGAGGCTGCTGCATGCTCCTCCTCTTTCAGCCTGGCAGCTGAGCTTCACCTCCAAGCCCCAACCATTCTTCCTTCCTGAGCCCATGATCCTGACCCCAGGTCACGCACACTGCAAAACCTCTCAGGAAGCTACTGTAGTGTCCTCACATCCCTGCATCTCAGGTGAAGACTCTGGGGTAGAGAGGACAAATGGATCCCAGGCCCTCAAGAGAGAAGCCAGCACAGGGCAGGTAGCCCAGGTAGTCCAGTCCCGACATCAGAGCTCTAACAGCTGCCCACCTGCACAGAGGGGACATCCAAACACACATGGGAGAAAATCCAACCCCTGTCCATGCTGAGGCCCTTCCCAGCCCTCCCTCTACTGCCCAGGACCATTTTCCAAGACAGCTCTGCTCCACCAGCCTCACACCTGTCCTTCCCTGGACATAGTCACCTCTCAGTTGCAACTATAGTGTTTTATCTGATCTGACTCCCAGGGAAATAAGGCCAAAGACTCCTGGAGGGGACACCAGGACCCCAGGGCCTGTAATGTCTGTTTGGCTCATGAATTTTTAAAATGGACAAATGAATGAATGATACTCAATATCTTGCGAACTCAGCAGGCCTCTGCCAGGCCTCGACCAGCCCTGCTAGGGTCTAAGGGGGCCCCAGTGGACTCTACCATGGACGCAACCCACATGACCTGAGCTGGCCCAGGTCAGCCATTGTGCCAACCTCCCAACCCTACTGCTAGTGGGACCATGCCAGGAGCTGCTGCAGGTCAGCAGAGCCACAGGCAGAGGGGAGGTTGGAGAAGCCCCAGAAGCAGAAGCCACACAATGGGCCACCGCCCCATTGTGGGCTACCCCACACACCCAGGCCAGGCACGTACCGGATACCATTTGGTCAAAGCTGGACTTGGCCTCTGCGTGCCTCAGCAGAGATTTAGGTGTGAAGATAATCAGCTGGAAGGGAAATACACGCCCAGCTGCCAGCTGGCCCTGCCTGGCCAGGCCCCCTGCCTGTGACCCCTGCCCTGGGACGGAGACTCACCGGCTTGCGGAAGGGCAGCAGGATCTGCCGGCGCAGCACGTGGAAGTAGTTGGCCGGTGTGGAGCAGTTGACCACGATCCAGTTGCAGTCATAGAGCTGGCTCACCTCGAAGTCCTTGGTGAATGCCTGTGGGGACGAGATGCATATGGCCAGGGTGGCTGTCTGCTGCACCCACACCCTGGACCCCTAGCCCTGTGGGCACAATAGGGCGCGTCCCTGTCCTGGGGACAGCAGCAACACTCACAGGGTAGGCATCCGAGTCATCATTGCTCATCTGCAGGAACCTTTCGGGCCTCGCTGACGAGTGCTCTGGGCCCTGAAAGCAAACGCCAGACAGCCAAGGCTGGACCCCACCATGGGAAAGACATCTGGCCCTGCAGGGACCCCAGGCTCAGGGGAAAGTCTGGAGGGCTTCTCAGCAGAGGTGCCCTCACCCTGGAGCCTGAACCATAGAAAAGAACCAAGAATGTGGAACAAGAGCAGAATGGGAATCCTCAGAGTGGGGTCTGCCCAGAGCTAGCACAGTATGTGAACTTGCAGGGACAGAAGAAAAAGCAAAAAGCCCGCACTGAGACGTGCTTTCTCTGGAATGTCCTGGAACAGTGGCTGCCACTGACTGAGCACCTGCTGTACAGGAGGCAGAGTTCTAGGAATCCCACACGCCTTATCGCTAACCCCCAAAGTAGCCCCATGATGCAGACACTCTTCCCCACTGCACAGATGAAGAGGCAAGGAGAGGGTAAGAAACCACCCATGACCACACAGCCAGGCAGGGGCCAACCCAACTCGGCCTGGGCCTCGCCCACCCTCACCCACACGGACCGCTCTGCTCCATGAAAGCAGCAAGACAAGCCCAGGGGCATCTCCAAGCCAGCTCCTGCAGGACGGGGATGACCCACTGCACAGCTGCCACTTGCCCTCTCTTGGTGGGGACGGCCAAGGACCCAGCCCCCCACACCCAGCCTGGCCCAGATCTGGCCTCCCAAGAAGCTGCCTTCACGGCAGGCAGCCCCAAGCAGGGAGCCTCACCTCCCTCCTCACTGATACCCGGTGTTGTGAGGATGCCGAGTATGCAGCCTGTAAAGTGCTCATAACATGCCACTCAGGGATAATGGTGGCAATGAGCCCCCTGCCTGTCTCCCTTCTGCCTGGTCAGGCCACCTGCCCACCAGATGGTATCACATGACACCCTGCTCCTTCCTCCCTTCCTGCTAGCCCAGGAGCCTCCGGAGGATGCACCCAGCCTGCATGTCTTCCCTCTGCCCCATGTGTGGCTGCAGAGGCAGGTCATACAGGAGGGGACCAGAGAACAGGCAGTACTGCACAGGATAGCTTCAAACCCCAGCTACTAGCTGTGAAACCTTGGGCAACCTACTCCCCAGCTCTGTGCCTCTGTTTCCTCATCTGAAAAGCAGGAACACAGCCTACTTCATTAAGTTGTATGGATTGGAAGAGTTAACATTCAGAAGCATTGAACAGTGCCTGGCGCACAGCAAGCACTCATACGTGGTAGCGCCTTCTGCTGCCAGGGGTAGCATCATCGTCTCAGCAGCTGCAGCATGCACATGTGCAGACCCCACCCTGCACAGACCCACGTGCTCCAGGGGCCTGGAAGGCATATACCGTCCAACCCGACAAGGGGCCCAGGGTCCATCCCGCCCCTTCAAGGCCCGCCAGAACCCACCAAGCCACCAGCCACCACCGCAGCCCTCACCATGCCTTCCATGCCATGGGGCAGCAGCAGCACAATGCCATTATGCCGCACCCACTTGGCCTGGCCGGTGCTGATGAACTGGTCGATGATGCACTGGGCCGTGTTGTGGAAGTCCCCAAACTGGGCCTCCCAGAGGACCAGGGCATTGGGGCTGGCCATGGCATAGCCCAGCTCAAAGCCTAAACAGAAGACAAGATAGAGCTTGCTGC
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Task1_train_13918
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A variant found in Chromosome 10 affects OGDHL (oxoglutarate dehydrogenase L). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Yoon-Bellen neurodevelopmental syndrome
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AAGCAGCAAGACAAGCCCAGGGGCATCTCCAAGCCAGCTCCTGCAGGACGGGGATGACCCACTGCACAGCTGCCACTTGCCCTCTCTTGGTGGGGACGGCCAAGGACCCAGCCCCCCACACCCAGCCTGGCCCAGATCTGGCCTCCCAAGAAGCTGCCTTCACGGCAGGCAGCCCCAAGCAGGGAGCCTCACCTCCCTCCTCACTGATACCCGGTGTTGTGAGGATGCCGAGTATGCAGCCTGTAAAGTGCTCATAACATGCCACTCAGGGATAATGGTGGCAATGAGCCCCCTGCCTGTCTCCCTTCTGCCTGGTCAGGCCACCTGCCCACCAGATGGTATCACATGACACCCTGCTCCTTCCTCCCTTCCTGCTAGCCCAGGAGCCTCCGGAGGATGCACCCAGCCTGCATGTCTTCCCTCTGCCCCATGTGTGGCTGCAGAGGCAGGTCATACAGGAGGGGACCAGAGAACAGGCAGTACTGCACAGGATAGCTTCAAACCCCAGCTACTAGCTGTGAAACCTTGGGCAACCTACTCCCCAGCTCTGTGCCTCTGTTTCCTCATCTGAAAAGCAGGAACACAGCCTACTTCATTAAGTTGTATGGATTGGAAGAGTTAACATTCAGAAGCATTGAACAGTGCCTGGCGCACAGCAAGCACTCATACGTGGTAGCGCCTTCTGCTGCCAGGGGTAGCATCATCGTCTCAGCAGCTGCAGCATGCACATGTGCAGACCCCACCCTGCACAGACCCACGTGCTCCAGGGGCCTGGAAGGCATATACCGTCCAACCCGACAAGGGGCCCAGGGTCCATCCCGCCCCTTCAAGGCCCGCCAGAACCCACCAAGCCACCAGCCACCACCGCAGCCCTCACCATGCCTTCCATGCCATGGGGCAGCAGCAGCACAATGCCATTATGCCGCACCCACTTGGCCTGGCCGGTGCTGATGAACTGGTCGATGATGCACTGGGCCGTGTTGTGGAAGTCCCCAAACTGGGCCTCCCAGAGGACCAGGGCATTGGGGCTGGCCATGGCATAGCCCAGCTCAAAGCCTAAACAGAAGACAAGATAGAGCTTGCTGCACACAGTCACCAAGTGGCAGTGGCTCCAGTCAAATTTAGCCTTTCTCAGTATATCCTCCATGCCCCCACCCATCCTTCTCACAAGCCAGGACGAACCCAGGGATTCCCTGGGATTCAAAGGGTACAATGTACCATCCTGGGGGCTGACAACATGCTCAGAGATGCTACCCTCAGCCCTGCTATCATGTGTGGTCAGGTTCAACCTTATTTAGGTATCCTGGGGAGGCAACAGGGACCATCTGTCAAGAACTCCTTAAAAACATGCAGAGCTGCTAAGGAGAAGGGGCAGAAACAGCCCTAGAGGCATCTGCCTGGGGGCGGGGGGCTGCCTGGCCTCTAGGGGCAGGCAGTGAGGACGAGGTGAGCCAGCTAATGATGCATCTGAGGGAGAGCATGCACAGGGGACACAGGCAGGGAAGCCCAGAGCCCAGAGAAGGGATCTCAGTGCAGTGTTCCTAGGGTGCAGGGCAGAGGAGGCAAGATGGGGCTCAAAGGAATGTGAGAGGGCTGGGCCAAGACTGGACTGCTCAGCAGCTGGAACCCACAGCAGACTGTGTTGGGCTCTCTGTCTGCGCCCACTGGGGCCCTGATACCCACAAAACCCCTCAAGGCAAGGAGGTCCCCCCAACTGGGATCCCCAAGGGGCCCAGATGGGACACGATTTCACCTCCCACATGGCCTTAGGTGAGGGCAGCCCAATCACCATCCCCCAGGGCCATCCCCTAAGGGCCTCTGAGCATCTCTCGCCCCTCCCAGGCCCTGGCCCCGGTCCCTTCCCAGCCCATCTCTTGTCCCCAGGTGTCTGGGGCCTGCCTGGCCTGCAGGAGAGCGTGGACCCACCCAGGACTCCGTACTCCGAGAGGGAGCTGTTGCACACGGTGTACGGGGCCTGGTCAGGCCAGAGATGATTCATAGGCACACACGTCCTGCGGTCAACCTCCTGGTCATGGAGAACATGGTGCCGGTGACTGCAGAGACACAGACCGGGGCAGGGACAGAGGGCAGGTGGGCTGGCACCTGTTCACCTGGAGCAGGGGAGCTGGGCAGCAGGAGGCAGGCAAGCCTCCGTCACTGTCCCAGGAAACCTGCAGGGTCCCACAACATGGCATCCAAGAAGGCTGTGGAAAACCAGAGCCATGTGGTCCCTCCTGCAGCCTGTCCCCCACCAGGCCTCCCCAGCCTGCCCCCTGCCTGCTAGCAGCGCCCACACACCACGCACTGGGGGGTCTGGGGGAAGGAGCTGTGAGTTGTGGCACCTCTCTGAATGTCAGCTTTTCACCCATAAAGGGGACCTGATAAGACACTTCCCAGGTGCCAGCTAGAGCCAGAGACCCTAGGAGGCCACTTCCCCTGCCCCGTCTTGCTGGCTTCTTTACCATCTCACCAGCCCTGTCCCAACTCACAAGAGGCAGAAACCACCGTGCAGTAGCCGAGGTGGGCACAGTAAGTGAGGGGCGCCTGGCTGAACCCCAGTCCCTGGCAAGGACTGACAGGTAGCTCTGGGTGCATCAGAGGGCCACCTGGGCCCTGGCTGGAGCAAGACCAGCCGAGATAAGCAACCAGGAATGAGAAAGCCAGCTGGTCAAGTCCTGGAAGCCACACCACCCTGGCTTGCTAACCAGGAGCGGACTGAGGCAGGATCTAGAACATTTTAGGAACCCGAACCAGAGGAAATGTGGTGTGGACAACTGACAAGTGTCAAGTCCCCATTTGGATTCACAAAGACAACTGCAAACAAGCAAGATAGGGGCTGACTTAACAGCAGTACACACACACACCACACACATACATACACATGCCACACATACCACACACACATACACATCCCCACACACCAAACACATACATACACACACACCACACACATACATACACACACCACACACACCAAACACCACATACACACACATCACACATACCACACATACATGCAAAACACACCACACACATATACACCACACACATCCATGCACACACACCAAACACCACACACACTACACACACCACACATACCACACACACCACACATACCACACAACACACACACCACACAGACTACACACCACAAACACAATCACACACACCACACACACTACATACACTACACACACACAACCACACACACCCCACAAATACCACACCACACATGCACCAAACATGACACATACCACACATATCACACGCACACCACACTACACACCACACACCCCACACATACCACACAAACACCCTCACACACATTACACACATACACACCCTACACACACACCAAACATACACACACATCACACACACCATACACGCCCCACACACACTATACACACCCCACACACATACGCACACCCCCACAAACCACACACGCACACACCACACATACACCACACATACCCCATACACACTCAACACACAACACACACCACACACACCACAAATGCACCACACCCACCACAAACACCACACACGACACACACCACACATGCACCACACAACACACCACACACCCACAAATACACACCACACCCCCACACACACCACACACACCATACACACATACACACCACACATACAACAAACACACCACACACACGCACCACACACACCCCCTATACACTCCCCCCACTCACCACATACCACACACCACATACACACCAAACACACCACACACACACACCACACACAACTCGCCCACACTCACCACACACCCCCCACACACACATGATCCTGAGGACCACAGATGGCCACCAGCTTGACCTTAGTGGACAGCTTGGGCCCAGCAGTGAGCTCTGCACACTTGCCCTGGGGGGTCAGCGAGGTGGCCATCTGATGATGCCACCTGAGGGCAGGGGCTAGGGATGCTGTGAAGATCCCACCCCAACAAAGGCCCCCTCGGGATCCCCAAGCCAGGCCCAGCTTCTGCTCCAGGTCTCCTGTGCGGATGCTGAGCCCCACTGCGCTCACCTGAATGTGCCCCTCTCCACATCCTGCCCGCTGAGCCGCACGTGGATGCCTT
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AAGCAGCAAGACAAGCCCAGGGGCATCTCCAAGCCAGCTCCTGCAGGACGGGGATGACCCACTGCACAGCTGCCACTTGCCCTCTCTTGGTGGGGACGGCCAAGGACCCAGCCCCCCACACCCAGCCTGGCCCAGATCTGGCCTCCCAAGAAGCTGCCTTCACGGCAGGCAGCCCCAAGCAGGGAGCCTCACCTCCCTCCTCACTGATACCCGGTGTTGTGAGGATGCCGAGTATGCAGCCTGTAAAGTGCTCATAACATGCCACTCAGGGATAATGGTGGCAATGAGCCCCCTGCCTGTCTCCCTTCTGCCTGGTCAGGCCACCTGCCCACCAGATGGTATCACATGACACCCTGCTCCTTCCTCCCTTCCTGCTAGCCCAGGAGCCTCCGGAGGATGCACCCAGCCTGCATGTCTTCCCTCTGCCCCATGTGTGGCTGCAGAGGCAGGTCATACAGGAGGGGACCAGAGAACAGGCAGTACTGCACAGGATAGCTTCAAACCCCAGCTACTAGCTGTGAAACCTTGGGCAACCTACTCCCCAGCTCTGTGCCTCTGTTTCCTCATCTGAAAAGCAGGAACACAGCCTACTTCATTAAGTTGTATGGATTGGAAGAGTTAACATTCAGAAGCATTGAACAGTGCCTGGCGCACAGCAAGCACTCATACGTGGTAGCGCCTTCTGCTGCCAGGGGTAGCATCATCGTCTCAGCAGCTGCAGCATGCACATGTGCAGACCCCACCCTGCACAGACCCACGTGCTCCAGGGGCCTGGAAGGCATATACCGTCCAACCCGACAAGGGGCCCAGGGTCCATCCCGCCCCTTCAAGGCCCGCCAGAACCCACCAAGCCACCAGCCACCACCGCAGCCCTCACCATGCCTTCCATGCCATGGGGCAGCAGCAGCACAATGCCATTATGCCGCACCCACTTGGCCTGGCCGGTGCTGATGAACTGGTCGATGATGCACTGGGCCGTGTTGTGGAAGTCCCCAAACTGGGCCTCCCAGAGGACCAGGGCATTGGGGCTGGCCATGGCATAGCCCAGCTCAAAGCCTAAACAGAAGACAAGATAGAGCTTGCTGCACACAGTCACCAAGTGGCAGTGGCTCCAGTCAAATTTAGCCTTTCTCAGTATATCCTCCATGCCCCCACCCATCCTTCTCACAAGCCAGGACGAACCCAGGGATTCCCTGGGATTCAAAGGGTACAATGTACCATCCTGGGGGCTGACAACATGCTCAGAGATGCTACCCTCAGCCCTGCTATCATGTGTGGTCAGGTTCAACCTTATTTAGGTATCCTGGGGAGGCAACAGGGACCATCTGTCAAGAACTCCTTAAAAACATGCAGAGCTGCTAAGGAGAAGGGGCAGAAACAGCCCTAGAGGCATCTGCCTGGGGGCGGGGGGCTGCCTGGCCTCTAGGGGCAGGCAGTGAGGACGAGGTGAGCCAGCTAATGATGCATCTGAGGGAGAGCATGCACAGGGGACACAGGCAGGGAAGCCCAGAGCCCAGAGAAGGGATCTCAGTGCAGTGTTCCTAGGGTGCAGGGCAGAGGAGGCAAGATGGGGCTCAAAGGAATGTGAGAGGGCTGGGCCAAGACTGGACTGCTCAGCAGCTGGAACCCACAGCAGACTGTGTTGGGCTCTCTGTCTGCGCCCACTGGGGCCCTGATACCCACAAAACCCCTCAAGGCAAGGAGGTCCCCCCAACTGGGATCCCCAAGGGGCCCAGATGGGACACGATTTCACCTCCCACATGGCCTTAGGTGAGGGCAGCCCAATCACCATCCCCCAGGGCCATCCCCTAAGGGCCTCTGAGCATCTCTCGCCCCTCCCAGGCCCTGGCCCCGGTCCCTTCCCAGCCCATCTCTTGTCCCCAGGTGTCTGGGGCCTGCCTGGCCTGCAGGAGAGCGTGGACCCACCCAGGACTCCGTACTCCGAGAGGGAGCTGTTGCACACGGTGTACGGGGCCTGGTCAGGCCAGAGATGATTCATAGGCACACACGTCCTGCGGTCAACCTCCTGGTCATGGAGAACATGGTGCTGGTGACTGCAGAGACACAGACCGGGGCAGGGACAGAGGGCAGGTGGGCTGGCACCTGTTCACCTGGAGCAGGGGAGCTGGGCAGCAGGAGGCAGGCAAGCCTCCGTCACTGTCCCAGGAAACCTGCAGGGTCCCACAACATGGCATCCAAGAAGGCTGTGGAAAACCAGAGCCATGTGGTCCCTCCTGCAGCCTGTCCCCCACCAGGCCTCCCCAGCCTGCCCCCTGCCTGCTAGCAGCGCCCACACACCACGCACTGGGGGGTCTGGGGGAAGGAGCTGTGAGTTGTGGCACCTCTCTGAATGTCAGCTTTTCACCCATAAAGGGGACCTGATAAGACACTTCCCAGGTGCCAGCTAGAGCCAGAGACCCTAGGAGGCCACTTCCCCTGCCCCGTCTTGCTGGCTTCTTTACCATCTCACCAGCCCTGTCCCAACTCACAAGAGGCAGAAACCACCGTGCAGTAGCCGAGGTGGGCACAGTAAGTGAGGGGCGCCTGGCTGAACCCCAGTCCCTGGCAAGGACTGACAGGTAGCTCTGGGTGCATCAGAGGGCCACCTGGGCCCTGGCTGGAGCAAGACCAGCCGAGATAAGCAACCAGGAATGAGAAAGCCAGCTGGTCAAGTCCTGGAAGCCACACCACCCTGGCTTGCTAACCAGGAGCGGACTGAGGCAGGATCTAGAACATTTTAGGAACCCGAACCAGAGGAAATGTGGTGTGGACAACTGACAAGTGTCAAGTCCCCATTTGGATTCACAAAGACAACTGCAAACAAGCAAGATAGGGGCTGACTTAACAGCAGTACACACACACACCACACACATACATACACATGCCACACATACCACACACACATACACATCCCCACACACCAAACACATACATACACACACACCACACACATACATACACACACCACACACACCAAACACCACATACACACACATCACACATACCACACATACATGCAAAACACACCACACACATATACACCACACACATCCATGCACACACACCAAACACCACACACACTACACACACCACACATACCACACACACCACACATACCACACAACACACACACCACACAGACTACACACCACAAACACAATCACACACACCACACACACTACATACACTACACACACACAACCACACACACCCCACAAATACCACACCACACATGCACCAAACATGACACATACCACACATATCACACGCACACCACACTACACACCACACACCCCACACATACCACACAAACACCCTCACACACATTACACACATACACACCCTACACACACACCAAACATACACACACATCACACACACCATACACGCCCCACACACACTATACACACCCCACACACATACGCACACCCCCACAAACCACACACGCACACACCACACATACACCACACATACCCCATACACACTCAACACACAACACACACCACACACACCACAAATGCACCACACCCACCACAAACACCACACACGACACACACCACACATGCACCACACAACACACCACACACCCACAAATACACACCACACCCCCACACACACCACACACACCATACACACATACACACCACACATACAACAAACACACCACACACACGCACCACACACACCCCCTATACACTCCCCCCACTCACCACATACCACACACCACATACACACCAAACACACCACACACACACACCACACACAACTCGCCCACACTCACCACACACCCCCCACACACACATGATCCTGAGGACCACAGATGGCCACCAGCTTGACCTTAGTGGACAGCTTGGGCCCAGCAGTGAGCTCTGCACACTTGCCCTGGGGGGTCAGCGAGGTGGCCATCTGATGATGCCACCTGAGGGCAGGGGCTAGGGATGCTGTGAAGATCCCACCCCAACAAAGGCCCCCTCGGGATCCCCAAGCCAGGCCCAGCTTCTGCTCCAGGTCTCCTGTGCGGATGCTGAGCCCCACTGCGCTCACCTGAATGTGCCCCTCTCCACATCCTGCCCGCTGAGCCGCACGTGGATGCCTT
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Task1_train_13919
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Chromosome 10 houses a mutation in gene OGDHL (oxoglutarate dehydrogenase L). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Yoon-Bellen neurodevelopmental syndrome
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AGGCTGGAGACAGCAGGAGAGATAGTCCTGAGGGCAAAGGGACACAGAGGAGGGAGTGACAGGCTCACTGCCCAGGGGACCCAGAGAGCCACCGAAAGGGAAGATGGGCAGGACTTTGAAAGAGGCTAGGCAGTGGCCGGAAGCGGTGGCTCCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTGCTTGGAAGGTTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACCCCATCTCAAAAAGAAAAGGAAAGAAAGAGGCTAGGCAGTATGGGCTGAAGGCCTGGCCCAGGCCTCCCAGGGAGGGGGTGGGAGCAGGAACAACATTTCCTCAGCAGGTCGATGGGTACGGAAAACCATCCTCACCTCCCAAGGCTCTGCTGGGCAAACAAATGAGCAAGGGAGTCATTCCTGGCTGGTGGACAGGACTTTGGACATGGAGGCACAGCCACATGAGCAGAACTGAGCAACTTCCAGCAAGCCTTTGCATCTTTGGGCTTCAGTTTCCCTAGCTCAAAACAGGGAGGTTGACCCAGATTATCTGAGGGCCCTCCCAGCTACCAGAGACTGCAGCCCTTGCTCCAAAAAGCCTTAGGGTCCTCAGGCAAACACCCAGCCTCTCTCCTGCAGGCTTCTCCAATGCATCCATCTTAAGGTTTATCTCAGCCCGGAAGCTCCCGGCTCAGCCCCTCCACAGTCCACCTCCCAAACACCCAGCTCTCCAAGGGTGCCGGGACCTGGGCATGGCACCCACCTCGTCCGCCGCCTCCAGCTTGGGGTCAAACTGGCAGAAGATCTGCTCCAGGTCCTTGCGGATCACGTTGGCCAGCACGTTCAGCCTTCCCCTGGAGCCAGAGGGGCCGGGCTCTCACCTGGCAAAGCCCGCAGGCCTCAGGGTTCCCTCCCCCACTGTGGAGGCCTGGCCTGGCCTAATACAGCCCCTTCGTGCCCAGAGCCCTCCTCAGGCCACCCAATCACCAGGCACCATCCTCTCCTGCTGCTGTAATGGCCCGAGGCTTAAAGCCCCATGCTTTCTTGCTGCCTCAGGCCACTGGGCCAGCTCTGCCTAACTCTCTGACCAGACACTGGGCATTCCCAGGCCCCCCATGACAGACAAACCCCAAAGTCCTGGCAGGCCAGCCACGAATGGGGACCCCTGCACCATGCATTTGGATGCCCTCATGCTGATGTAGCCCTGGGCTAGTCCAACCACAAGCAGCTCTCTGGTCACGGGAAAAGCCCAGGGCCCTTCCCACAGGCCACTCTGCACATCTGCACATGCCCACTCAGCAGGACCCCTGGCCACAGACGTCTCTGTCCCCCAGGGTGCATTCCCCCTCCTGCTTCCCCACAGGCTCCAGCTCAGAGGTAACGCCCCACTGCTGAGCAAGCCTCCTAGATCTTCATCAAGGTCAAGGGAACACGCAGTCAGCTTGCAGCCAGGTCAGAGACCCTCGGCTCACCTCCACAGACCTCCCTGTTGGGGACACAACCCGGGAACAACTGCCCAGGCCCTGCCCTCCCTTCCCTGGAAGAAATCCCTCCACCTCTCCTTGTCCACAGGAACCTCAAGAAGTATAGTGTACCGCTTTCTGAAATCTCACCCTTGCTAGGGACAGAGGCAACATGGCCAGGGAGAGAGGGTGCCTGATAACCTGGTTAGCACCCGGCCCCAGGTGACTCTGGCCAAGTACCCGGCAATTTCTGTGACGAGCAGGCCAGGCCCAGGACTCAGAACTTTCCAGGAAACCCACCTCTACCCCCAGGTCCCACCAACACCTCCGCTCTGATTTCCATCTCATCTCTCCCACCTCTGTCCCCTGGGCTGGAGGAGAATGCGCAAGGCACAGCAGGGAGGGGGACCCACCTGTGTGGCATCCCCAAGATGACATTCTCAATCCCCATCTCGCTGGATTTGTCGATGATGGTCTTGAGGGCAGGAATCATCACTTCACAGCCCTCCAGGCCAAACCGCTTCTCTGAGGACCATTTCCGGGCCAGGAAGTCTTCAAACCTGCTTGGGGAGAGGATGGGAAGAGGAAAGGGAAAGGGATGGAGAGGGAGGGGACTGGGGCTCACAGGGGCTGTTCATGAGTGCTCAGAGCTGAATGCTGAGGACAGAGGAAGTCACAAATCCTCCTTCCACCTACATGGTCCAGGGCCCACCATGGATACACCTGTCCCACCCAGCAAAGGAACACAGGGTTAGGGGAGGCTAGGCATCTTCCCAGCTGAACCAAACGCCTCTGCCTACACCCCTTCCCAGCTGCCGCCCTCTCTCTTCCTCATAGCCAAGCTCCTCCAACAGGCCACTGCCCACCCACTCCTAGCCCACTACCCTCCTGCCACACTCAAGGGCTCTCTTCGCCAAGTCCCAAAGATCTCCACCCAGCCAGATCCAAACTCCAGCCCACACCTCGCTGCTCAGGAATCCACTTTGCATCCAGCAGCTGAGTCAGGTGCTCCCCCAGCCCCTGCAGCCCTGGGGGACCCAGCTTCAGAAAAGTCCAGTGAACAGACAGGTGGTGTGGCCACAGTCACTCCACACCAGGGATAATTTTCTGCCCAAATGTTCCCACAGCCACTTCCCGCCACTTCTGGCCTTGCTCAGTGTCCCCGCTCTCTTGTTCTCCTAGAGCCTCATCCCTGCCCACCTGACCTGCTCTGCCTTGGGCCAGCTCTTGGCCAAACTGCCTAAACACCTGGTCCCAACTCTCCTCCCTGCAGCCAGTGGTGAGGCCGATCCAGTCCTGCCTTCCTGTGGTACCCTCCTGCTCTCTTAGGCAGGGTGTGGGACGTCTCATAGAGCCCTGGAGCAGGACCTCCAGCCACTTGGCCCTCCAGGTGGTGCCAACCTCATGGAGCGCACTAGCCGGGCCAGCAGGGTCCGCTTCTCCTCGCTGGAGAACTGCATCACACCAGGGGTCTCAAACTTCTGCCGGATCCACTGGCACTGCTCCACATCGTTGATGAACATGAACTCCAGGCCAATGTGCTGGCAGTAGGTGTTCTGGGGAGACACATTGGGACCCCATGAGGAGCGGGGAAGAGGGACGGCTGACATCCCTGCTGTCTAGAACAAAAAAGACAGTGCCTTCCCGTCCTCTGGCAAGCTCCAAAGAGCTGCTTCAGCTGCACCCCACACACCCGCCTGTGCTCACCTCCAGGCGCCGAATGATCTCCCGCAGAGAGAGGGTGTTTTCAGAGCCCCCAATGAAGGTGGTTGTCGGCAGCTGGAACTCCTTATCAAGGTCAGCCTCCTGAAGGTCATAGAAGGCTGGAGAAGGAGGCGTGGCCGAGCCCCGGGCAGCAAAGTGGAGGGAGGGAGGTCAGGCCCAGGTGGAGCCCCGCAGTCTCACCAGACCTCCCAGTCTCCCCAGTGCCCTCCCTCTGGGTCCAACCTGGGGAGCAGAAGTGAGAGTGAGCCCAGGGAGGCAGGGTGGACAAGCCTCTCAGGCTTGAACACATGGGGCACAAGCTAGGGAAAGTGGCAGGCATCCTTCTCAGGAACAACAGGCAGTACACAGGCAAGGTAGAAAGGAGGCCCTGTGGGCTGCTCCCCGAGCTCCATGGATTCCCAAGGATCAGGCTGTCCCTAGTGCCCGTGGGCCCCTTACTGGGCCACCCACACAGCACTGCCATGGCCGTCCTGAGGAAGGGTCTTACCCAGTTTATCAATGGTTGTGATCAAGTCTGAGGGCACAAAGGAGTCCAGGTCTGCATCCAGAATGCCCAGGGGGTCCAGCTGGGCCACATGGTGACCCCGGATCTGGGAGGAGGGAAAAGAGCAGGGTGGGGCTGGGACCCAGCTGGACAGACCTCCTCCAGGGTAAGGCTCTGGGCCCCAGCCCCTCTCTTCCCATTCCCGAATGTTAAGCTTCCCCATGTCTCTGCCCCGCGGCTACTTCACTGCTGC
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AGGCTGGAGACAGCAGGAGAGATAGTCCTGAGGGCAAAGGGACACAGAGGAGGGAGTGACAGGCTCACTGCCCAGGGGACCCAGAGAGCCACCGAAAGGGAAGATGGGCAGGACTTTGAAAGAGGCTAGGCAGTGGCCGGAAGCGGTGGCTCCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTGCTTGGAAGGTTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACCCCATCTCAAAAAGAAAAGGAAAGAAAGAGGCTAGGCAGTATGGGCTGAAGGCCTGGCCCAGGCCTCCCAGGGAGGGGGTGGGAGCAGGAACAACATTTCCTCAGCAGGTCGATGGGTACGGAAAACCATCCTCACCTCCCAAGGCTCTGCTGGGCAAACAAATGAGCAAGGGAGTCATTCCTGGCTGGTGGACAGGACTTTGGACATGGAGGCACAGCCACATGAGCAGAACTGAGCAACTTCCAGCAAGCCTTTGCATCTTTGGGCTTCAGTTTCCCTAGCTCAAAACAGGGAGGTTGACCCAGATTATCTGAGGGCCCTCCCAGCTACCAGAGACTGCAGCCCTTGCTCCAAAAAGCCTTAGGGTCCTCAGGCAAACACCCAGCCTCTCTCCTGCAGGCTTCTCCAATGCATCCATCTTAAGGTTTATCTCAGCCCGGAAGCTCCCGGCTCAGCCCCTCCACAGTCCACCTCCCAAACACCCAGCTCTCCAAGGGTGCCGGGACCTGGGCATGGCACCCACCTCGTCCGCCGCCTCCAGCTTGGGGTCAAACTGGCAGAAGATCTGCTCCAGGTCCTTGCGGATCACGTTGGCCAGCACGTTCAGCCTTCCCCTGGAGCCAGAGGGGCCGGGCTCTCACCTGGCAAAGCCCGCAGGCCTCAGGGTTCCCTCCCCCACTGTGGAGGCCTGGCCTGGCCTAATACAGCCCCTTCGTGCCCAGAGCCCTCCTCAGGCCACCCAATCACCAGGCACCATCCTCTCCTGCTGCTGTAATGGCCCGAGGCTTAAAGCCCCATGCTTTCTTGCTGCCTCAGGCCACTGGGCCAGCTCTGCCTAACTCTCTGACCAGACACTGGGCATTCCCAGGCCCCCCATGACAGACAAACCCCAAAGTCCTGGCAGGCCAGCCACGAATGGGGACCCCTGCACCATGCATTTGGATGCCCTCATGCTGATGTAGCCCTGGGCTAGTCCAACCACAAGCAGCTCTCTGGTCACGGGAAAAGCCCAGGGCCCTTCCCACAGGCCACTCTGCACATCTGCACATGCCCACTCAGCAGGACCCCTGGCCACAGACGTCTCTGTCCCCCAGGGTGCATTCCCCCTCCTGCTTCCCCACAGGCTCCAGCTCAGAGGTAACGCCCCACTGCTGAGCAAGCCTCCTAGATCTTCATCAAGGTCAAGGGAACACGCAGTCAGCTTGCAGCCAGGTCAGAGACCCTCGGCTCACCTCCACAGACCTCCCTGTTGGGGACACAACCCGGGAACAACTGCCCAGGCCCTGCCCTCCCTTCCCTGGAAGAAATCCCTCCACCTCTCCTTGTCCACAGGAACCTCAAGAAGTATAGTGTACCGCTTTCTGAAATCTCACCCTTGCTAGGGACAGAGGCAACATGGCCAGGGAGAGAGGGTGCCTGATAACCTGGTTAGCACCCGGCCCCAGGTGACTCTGGCCAAGTACCCGGCAATTTCTGTGACGAGCAGGCCAGGCCCAGGACTCAGAACTTTCCAGGAAACCCACCTCTACCCCCAGGTCCCACCAACACCTCCGCTCTGATTTCCATCTCATCTCTCCCACCTCTGTCCCCTGGGCTGGAGGAGAATGCGCAAGGCACAGCAGGGAGGGGGACCCACCCGTGTGGCATCCCCAAGATGACATTCTCAATCCCCATCTCGCTGGATTTGTCGATGATGGTCTTGAGGGCAGGAATCATCACTTCACAGCCCTCCAGGCCAAACCGCTTCTCTGAGGACCATTTCCGGGCCAGGAAGTCTTCAAACCTGCTTGGGGAGAGGATGGGAAGAGGAAAGGGAAAGGGATGGAGAGGGAGGGGACTGGGGCTCACAGGGGCTGTTCATGAGTGCTCAGAGCTGAATGCTGAGGACAGAGGAAGTCACAAATCCTCCTTCCACCTACATGGTCCAGGGCCCACCATGGATACACCTGTCCCACCCAGCAAAGGAACACAGGGTTAGGGGAGGCTAGGCATCTTCCCAGCTGAACCAAACGCCTCTGCCTACACCCCTTCCCAGCTGCCGCCCTCTCTCTTCCTCATAGCCAAGCTCCTCCAACAGGCCACTGCCCACCCACTCCTAGCCCACTACCCTCCTGCCACACTCAAGGGCTCTCTTCGCCAAGTCCCAAAGATCTCCACCCAGCCAGATCCAAACTCCAGCCCACACCTCGCTGCTCAGGAATCCACTTTGCATCCAGCAGCTGAGTCAGGTGCTCCCCCAGCCCCTGCAGCCCTGGGGGACCCAGCTTCAGAAAAGTCCAGTGAACAGACAGGTGGTGTGGCCACAGTCACTCCACACCAGGGATAATTTTCTGCCCAAATGTTCCCACAGCCACTTCCCGCCACTTCTGGCCTTGCTCAGTGTCCCCGCTCTCTTGTTCTCCTAGAGCCTCATCCCTGCCCACCTGACCTGCTCTGCCTTGGGCCAGCTCTTGGCCAAACTGCCTAAACACCTGGTCCCAACTCTCCTCCCTGCAGCCAGTGGTGAGGCCGATCCAGTCCTGCCTTCCTGTGGTACCCTCCTGCTCTCTTAGGCAGGGTGTGGGACGTCTCATAGAGCCCTGGAGCAGGACCTCCAGCCACTTGGCCCTCCAGGTGGTGCCAACCTCATGGAGCGCACTAGCCGGGCCAGCAGGGTCCGCTTCTCCTCGCTGGAGAACTGCATCACACCAGGGGTCTCAAACTTCTGCCGGATCCACTGGCACTGCTCCACATCGTTGATGAACATGAACTCCAGGCCAATGTGCTGGCAGTAGGTGTTCTGGGGAGACACATTGGGACCCCATGAGGAGCGGGGAAGAGGGACGGCTGACATCCCTGCTGTCTAGAACAAAAAAGACAGTGCCTTCCCGTCCTCTGGCAAGCTCCAAAGAGCTGCTTCAGCTGCACCCCACACACCCGCCTGTGCTCACCTCCAGGCGCCGAATGATCTCCCGCAGAGAGAGGGTGTTTTCAGAGCCCCCAATGAAGGTGGTTGTCGGCAGCTGGAACTCCTTATCAAGGTCAGCCTCCTGAAGGTCATAGAAGGCTGGAGAAGGAGGCGTGGCCGAGCCCCGGGCAGCAAAGTGGAGGGAGGGAGGTCAGGCCCAGGTGGAGCCCCGCAGTCTCACCAGACCTCCCAGTCTCCCCAGTGCCCTCCCTCTGGGTCCAACCTGGGGAGCAGAAGTGAGAGTGAGCCCAGGGAGGCAGGGTGGACAAGCCTCTCAGGCTTGAACACATGGGGCACAAGCTAGGGAAAGTGGCAGGCATCCTTCTCAGGAACAACAGGCAGTACACAGGCAAGGTAGAAAGGAGGCCCTGTGGGCTGCTCCCCGAGCTCCATGGATTCCCAAGGATCAGGCTGTCCCTAGTGCCCGTGGGCCCCTTACTGGGCCACCCACACAGCACTGCCATGGCCGTCCTGAGGAAGGGTCTTACCCAGTTTATCAATGGTTGTGATCAAGTCTGAGGGCACAAAGGAGTCCAGGTCTGCATCCAGAATGCCCAGGGGGTCCAGCTGGGCCACATGGTGACCCCGGATCTGGGAGGAGGGAAAAGAGCAGGGTGGGGCTGGGACCCAGCTGGACAGACCTCCTCCAGGGTAAGGCTCTGGGCCCCAGCCCCTCTCTTCCCATTCCCGAATGTTAAGCTTCCCCATGTCTCTGCCCCGCGGCTACTTCACTGCTGC
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Task1_train_13920
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A genomic change on Chromosome 10 affects OGDHL (oxoglutarate dehydrogenase L). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Yoon-Bellen neurodevelopmental syndrome
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CAGCACGTTCAGCCTTCCCCTGGAGCCAGAGGGGCCGGGCTCTCACCTGGCAAAGCCCGCAGGCCTCAGGGTTCCCTCCCCCACTGTGGAGGCCTGGCCTGGCCTAATACAGCCCCTTCGTGCCCAGAGCCCTCCTCAGGCCACCCAATCACCAGGCACCATCCTCTCCTGCTGCTGTAATGGCCCGAGGCTTAAAGCCCCATGCTTTCTTGCTGCCTCAGGCCACTGGGCCAGCTCTGCCTAACTCTCTGACCAGACACTGGGCATTCCCAGGCCCCCCATGACAGACAAACCCCAAAGTCCTGGCAGGCCAGCCACGAATGGGGACCCCTGCACCATGCATTTGGATGCCCTCATGCTGATGTAGCCCTGGGCTAGTCCAACCACAAGCAGCTCTCTGGTCACGGGAAAAGCCCAGGGCCCTTCCCACAGGCCACTCTGCACATCTGCACATGCCCACTCAGCAGGACCCCTGGCCACAGACGTCTCTGTCCCCCAGGGTGCATTCCCCCTCCTGCTTCCCCACAGGCTCCAGCTCAGAGGTAACGCCCCACTGCTGAGCAAGCCTCCTAGATCTTCATCAAGGTCAAGGGAACACGCAGTCAGCTTGCAGCCAGGTCAGAGACCCTCGGCTCACCTCCACAGACCTCCCTGTTGGGGACACAACCCGGGAACAACTGCCCAGGCCCTGCCCTCCCTTCCCTGGAAGAAATCCCTCCACCTCTCCTTGTCCACAGGAACCTCAAGAAGTATAGTGTACCGCTTTCTGAAATCTCACCCTTGCTAGGGACAGAGGCAACATGGCCAGGGAGAGAGGGTGCCTGATAACCTGGTTAGCACCCGGCCCCAGGTGACTCTGGCCAAGTACCCGGCAATTTCTGTGACGAGCAGGCCAGGCCCAGGACTCAGAACTTTCCAGGAAACCCACCTCTACCCCCAGGTCCCACCAACACCTCCGCTCTGATTTCCATCTCATCTCTCCCACCTCTGTCCCCTGGGCTGGAGGAGAATGCGCAAGGCACAGCAGGGAGGGGGACCCACCTGTGTGGCATCCCCAAGATGACATTCTCAATCCCCATCTCGCTGGATTTGTCGATGATGGTCTTGAGGGCAGGAATCATCACTTCACAGCCCTCCAGGCCAAACCGCTTCTCTGAGGACCATTTCCGGGCCAGGAAGTCTTCAAACCTGCTTGGGGAGAGGATGGGAAGAGGAAAGGGAAAGGGATGGAGAGGGAGGGGACTGGGGCTCACAGGGGCTGTTCATGAGTGCTCAGAGCTGAATGCTGAGGACAGAGGAAGTCACAAATCCTCCTTCCACCTACATGGTCCAGGGCCCACCATGGATACACCTGTCCCACCCAGCAAAGGAACACAGGGTTAGGGGAGGCTAGGCATCTTCCCAGCTGAACCAAACGCCTCTGCCTACACCCCTTCCCAGCTGCCGCCCTCTCTCTTCCTCATAGCCAAGCTCCTCCAACAGGCCACTGCCCACCCACTCCTAGCCCACTACCCTCCTGCCACACTCAAGGGCTCTCTTCGCCAAGTCCCAAAGATCTCCACCCAGCCAGATCCAAACTCCAGCCCACACCTCGCTGCTCAGGAATCCACTTTGCATCCAGCAGCTGAGTCAGGTGCTCCCCCAGCCCCTGCAGCCCTGGGGGACCCAGCTTCAGAAAAGTCCAGTGAACAGACAGGTGGTGTGGCCACAGTCACTCCACACCAGGGATAATTTTCTGCCCAAATGTTCCCACAGCCACTTCCCGCCACTTCTGGCCTTGCTCAGTGTCCCCGCTCTCTTGTTCTCCTAGAGCCTCATCCCTGCCCACCTGACCTGCTCTGCCTTGGGCCAGCTCTTGGCCAAACTGCCTAAACACCTGGTCCCAACTCTCCTCCCTGCAGCCAGTGGTGAGGCCGATCCAGTCCTGCCTTCCTGTGGTACCCTCCTGCTCTCTTAGGCAGGGTGTGGGACGTCTCATAGAGCCCTGGAGCAGGACCTCCAGCCACTTGGCCCTCCAGGTGGTGCCAACCTCATGGAGCGCACTAGCCGGGCCAGCAGGGTCCGCTTCTCCTCGCTGGAGAACTGCATCACACCAGGGGTCTCAAACTTCTGCCGGATCCACTGGCACTGCTCCACATCGTTGATGAACATGAACTCCAGGCCAATGTGCTGGCAGTAGGTGTTCTGGGGAGACACATTGGGACCCCATGAGGAGCGGGGAAGAGGGACGGCTGACATCCCTGCTGTCTAGAACAAAAAAGACAGTGCCTTCCCGTCCTCTGGCAAGCTCCAAAGAGCTGCTTCAGCTGCACCCCACACACCCGCCTGTGCTCACCTCCAGGCGCCGAATGATCTCCCGCAGAGAGAGGGTGTTTTCAGAGCCCCCAATGAAGGTGGTTGTCGGCAGCTGGAACTCCTTATCAAGGTCAGCCTCCTGAAGGTCATAGAAGGCTGGAGAAGGAGGCGTGGCCGAGCCCCGGGCAGCAAAGTGGAGGGAGGGAGGTCAGGCCCAGGTGGAGCCCCGCAGTCTCACCAGACCTCCCAGTCTCCCCAGTGCCCTCCCTCTGGGTCCAACCTGGGGAGCAGAAGTGAGAGTGAGCCCAGGGAGGCAGGGTGGACAAGCCTCTCAGGCTTGAACACATGGGGCACAAGCTAGGGAAAGTGGCAGGCATCCTTCTCAGGAACAACAGGCAGTACACAGGCAAGGTAGAAAGGAGGCCCTGTGGGCTGCTCCCCGAGCTCCATGGATTCCCAAGGATCAGGCTGTCCCTAGTGCCCGTGGGCCCCTTACTGGGCCACCCACACAGCACTGCCATGGCCGTCCTGAGGAAGGGTCTTACCCAGTTTATCAATGGTTGTGATCAAGTCTGAGGGCACAAAGGAGTCCAGGTCTGCATCCAGAATGCCCAGGGGGTCCAGCTGGGCCACATGGTGACCCCGGATCTGGGAGGAGGGAAAAGAGCAGGGTGGGGCTGGGACCCAGCTGGACAGACCTCCTCCAGGGTAAGGCTCTGGGCCCCAGCCCCTCTCTTCCCATTCCCGAATGTTAAGCTTCCCCATGTCTCTGCCCCGCGGCTACTTCACTGCTGCCTGCGAGACCCCAGCCACAGCCAGTAAGGTGGCAGGAGCTCAACCTGGTTTGGAAGTACAACATGCACGGGCAAAAACAGGAAAAAGACCTATGCACAAAGGTGTTCACTGCGGTGCTACTAGTAATAGTGAAATTCTAGAAACTTCCCCACTGTCTATCAGCAGGAGACTGGCGCATGGATATGGGCGATCCACACAGCGGAGCACTCCAGAGCCATTAAAAGGAAGAAGAAAAATCCCCATCTGATACTACAAGGTAGTCTCTAAAAAATATTGTTAAGCAAAAAAGCAAATTCTAGCAAAGTATGTATGGTGAACTACACATTATCTAATAAAAAGGAGACACAAATAAATATATGCATTAGAAGGGAAAATCATAAAATTTAAAAAAACCACAACATAAGAAAAATTATCCTCTAGGGGAGGGGACAAAATAGGATAGAGAGGCAGGGCTAGGAGCCAGATTTTTAAGAAGTTATCTTACTTTGAAGATTTGACTTTCAAACCTTGTAAATATTTTACATTCTTATAAAACAAAATTAAGTCTTAAAAATTGAAAGTGAAATGAATCAAATGAATAAATATGTCCACTTAGTGGCATAAATACAGAGAGAAACCATTCCAATTGACTAATGGAACATTCCCTAAAGACAAACAGAAAAAAATTCATCAAGTCTTTTTTATTACCAGTCAGTCGTAATAGTGTTAGAATTGTTATGCTGGCTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTAAGATGGGTGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGCGGCACATGCCTGTAATCCCAGCTACTTGGGAGGATGAGGCAGGAGAATCGCTTGAATCTGGGAAGTGGAGGCTGCAGTGAGCTGAGGTCGCACCACTGCGCTCTAGCCTGGGCTACAAGGAGAAACTCCATCTAAAAA
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CAGCACGTTCAGCCTTCCCCTGGAGCCAGAGGGGCCGGGCTCTCACCTGGCAAAGCCCGCAGGCCTCAGGGTTCCCTCCCCCACTGTGGAGGCCTGGCCTGGCCTAATACAGCCCCTTCGTGCCCAGAGCCCTCCTCAGGCCACCCAATCACCAGGCACCATCCTCTCCTGCTGCTGTAATGGCCCGAGGCTTAAAGCCCCATGCTTTCTTGCTGCCTCAGGCCACTGGGCCAGCTCTGCCTAACTCTCTGACCAGACACTGGGCATTCCCAGGCCCCCCATGACAGACAAACCCCAAAGTCCTGGCAGGCCAGCCACGAATGGGGACCCCTGCACCATGCATTTGGATGCCCTCATGCTGATGTAGCCCTGGGCTAGTCCAACCACAAGCAGCTCTCTGGTCACGGGAAAAGCCCAGGGCCCTTCCCACAGGCCACTCTGCACATCTGCACATGCCCACTCAGCAGGACCCCTGGCCACAGACGTCTCTGTCCCCCAGGGTGCATTCCCCCTCCTGCTTCCCCACAGGCTCCAGCTCAGAGGTAACGCCCCACTGCTGAGCAAGCCTCCTAGATCTTCATCAAGGTCAAGGGAACACGCAGTCAGCTTGCAGCCAGGTCAGAGACCCTCGGCTCACCTCCACAGACCTCCCTGTTGGGGACACAACCCGGGAACAACTGCCCAGGCCCTGCCCTCCCTTCCCTGGAAGAAATCCCTCCACCTCTCCTTGTCCACAGGAACCTCAAGAAGTATAGTGTACCGCTTTCTGAAATCTCACCCTTGCTAGGGACAGAGGCAACATGGCCAGGGAGAGAGGGTGCCTGATAACCTGGTTAGCACCCGGCCCCAGGTGACTCTGGCCAAGTACCCGGCAATTTCTGTGACGAGCAGGCCAGGCCCAGGACTCAGAACTTTCCAGGAAACCCACCTCTACCCCCAGGTCCCACCAACACCTCCGCTCTGATTTCCATCTCATCTCTCCCACCTCTGTCCCCTGGGCTGGAGGAGAATGCGCAAGGCACAGCAGGGAGGGGGACCCACCTGTGTGGCATCCCCAAGATGACATTCTCAATCCCCATCTCGCTGGATTTGTCGATGATGGTCTTGAGGGCAGGAATCATCACTTCACAGCCCTCCAGGCCAAACCGCTTCTCTGAGGACCATTTCCGGGCCAGGAAGTCTTCAAACCTGCTTGGGGAGAGGATGGGAAGAGGAAAGGGAAAGGGATGGAGAGGGAGGGGACTGGGGCTCACAGGGGCTGTTCATGAGTGCTCAGAGCTGAATGCTGAGGACAGAGGAAGTCACAAATCCTCCTTCCACCTACATGGTCCAGGGCCCACCATGGATACACCTGTCCCACCCAGCAAAGGAACACAGGGTTAGGGGAGGCTAGGCATCTTCCCAGCTGAACCAAACGCCTCTGCCTACACCCCTTCCCAGCTGCCGCCCTCTCTCTTCCTCATAGCCAAGCTCCTCCAACAGGCCACTGCCCACCCACTCCTAGCCCACTACCCTCCTGCCACACTCAAGGGCTCTCTTCGCCAAGTCCCAAAGATCTCCACCCAGCCAGATCCAAACTCCAGCCCACACCTCGCTGCTCAGGAATCCACTTTGCATCCAGCAGCTGAGTCAGGTGCTCCCCCAGCCCCTGCAGCCCTGGGGGACCCAGCTTCAGAAAAGTCCAGTGAACAGACAGGTGGTGTGGCCACAGTCACTCCACACCAGGGATAATTTTCTGCCCAAATGTTCCCACAGCCACTTCCCGCCACTTCTGGCCTTGCTCAGTGTCCCCGCTCTCTTGTTCTCCTAGAGCCTCATCCCTGCCCACCTGACCTGCTCTGCCTTGGGCCAGCTCTTGGCCAAACTGCCTAAACACCTGGTCCCAACTCTCCTCCCTGCAGCCAGTGGTGAGGCCGATCCAGTCCTGCCTTCCTGTGGTACCCTCCTGCTCTCTTAGGCAGGGTGTGGGACGTCTCATAGAGCCCTGGAGCAGGACCTCCAGCCACTTGGCCCTCCAGGTGGTGCCAACCTCATGGAGCGCACTAGCCAGGCCAGCAGGGTCCGCTTCTCCTCGCTGGAGAACTGCATCACACCAGGGGTCTCAAACTTCTGCCGGATCCACTGGCACTGCTCCACATCGTTGATGAACATGAACTCCAGGCCAATGTGCTGGCAGTAGGTGTTCTGGGGAGACACATTGGGACCCCATGAGGAGCGGGGAAGAGGGACGGCTGACATCCCTGCTGTCTAGAACAAAAAAGACAGTGCCTTCCCGTCCTCTGGCAAGCTCCAAAGAGCTGCTTCAGCTGCACCCCACACACCCGCCTGTGCTCACCTCCAGGCGCCGAATGATCTCCCGCAGAGAGAGGGTGTTTTCAGAGCCCCCAATGAAGGTGGTTGTCGGCAGCTGGAACTCCTTATCAAGGTCAGCCTCCTGAAGGTCATAGAAGGCTGGAGAAGGAGGCGTGGCCGAGCCCCGGGCAGCAAAGTGGAGGGAGGGAGGTCAGGCCCAGGTGGAGCCCCGCAGTCTCACCAGACCTCCCAGTCTCCCCAGTGCCCTCCCTCTGGGTCCAACCTGGGGAGCAGAAGTGAGAGTGAGCCCAGGGAGGCAGGGTGGACAAGCCTCTCAGGCTTGAACACATGGGGCACAAGCTAGGGAAAGTGGCAGGCATCCTTCTCAGGAACAACAGGCAGTACACAGGCAAGGTAGAAAGGAGGCCCTGTGGGCTGCTCCCCGAGCTCCATGGATTCCCAAGGATCAGGCTGTCCCTAGTGCCCGTGGGCCCCTTACTGGGCCACCCACACAGCACTGCCATGGCCGTCCTGAGGAAGGGTCTTACCCAGTTTATCAATGGTTGTGATCAAGTCTGAGGGCACAAAGGAGTCCAGGTCTGCATCCAGAATGCCCAGGGGGTCCAGCTGGGCCACATGGTGACCCCGGATCTGGGAGGAGGGAAAAGAGCAGGGTGGGGCTGGGACCCAGCTGGACAGACCTCCTCCAGGGTAAGGCTCTGGGCCCCAGCCCCTCTCTTCCCATTCCCGAATGTTAAGCTTCCCCATGTCTCTGCCCCGCGGCTACTTCACTGCTGCCTGCGAGACCCCAGCCACAGCCAGTAAGGTGGCAGGAGCTCAACCTGGTTTGGAAGTACAACATGCACGGGCAAAAACAGGAAAAAGACCTATGCACAAAGGTGTTCACTGCGGTGCTACTAGTAATAGTGAAATTCTAGAAACTTCCCCACTGTCTATCAGCAGGAGACTGGCGCATGGATATGGGCGATCCACACAGCGGAGCACTCCAGAGCCATTAAAAGGAAGAAGAAAAATCCCCATCTGATACTACAAGGTAGTCTCTAAAAAATATTGTTAAGCAAAAAAGCAAATTCTAGCAAAGTATGTATGGTGAACTACACATTATCTAATAAAAAGGAGACACAAATAAATATATGCATTAGAAGGGAAAATCATAAAATTTAAAAAAACCACAACATAAGAAAAATTATCCTCTAGGGGAGGGGACAAAATAGGATAGAGAGGCAGGGCTAGGAGCCAGATTTTTAAGAAGTTATCTTACTTTGAAGATTTGACTTTCAAACCTTGTAAATATTTTACATTCTTATAAAACAAAATTAAGTCTTAAAAATTGAAAGTGAAATGAATCAAATGAATAAATATGTCCACTTAGTGGCATAAATACAGAGAGAAACCATTCCAATTGACTAATGGAACATTCCCTAAAGACAAACAGAAAAAAATTCATCAAGTCTTTTTTATTACCAGTCAGTCGTAATAGTGTTAGAATTGTTATGCTGGCTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTAAGATGGGTGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGCGGCACATGCCTGTAATCCCAGCTACTTGGGAGGATGAGGCAGGAGAATCGCTTGAATCTGGGAAGTGGAGGCTGCAGTGAGCTGAGGTCGCACCACTGCGCTCTAGCCTGGGCTACAAGGAGAAACTCCATCTAAAAA
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Task1_train_13921
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Mutation context: Chromosome 10, Gene PRKG1 (protein kinase cGMP-dependent 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Aortic aneurysm, familial thoracic 8
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GGTTAGTTTCTGTAGTAGATGATGGAATATTATGCTTCAATGTCATCTAATAAATCATACCTCCATATAAATTATAAAGAAATTATGCCAGTGATAAGAGCAAGCATTTATTAAGCATTTGCTATGTGCAGGGCACTGTGTTAAGAATTTTACCTGCTTTATCTCACTTAATTTTGACAATCATCCAATGAAATAGGTGCTTTTATTGTATCTATTTCACTGAGGCAAAGAGAAGTTAAGCAATTTGCCCAAGGTCATAAGGCCAGTAAGGAACAGAAAAGAGAACCAGAACTAAACTTTTGGTCTATCTTTAGATGATTTATAAATTTTTTAACCTCTGTGTGGTATTCTGTCCTGTCTCTCATTCTTGAGTGGTAGATGAAATTTCTAGGGGCATAGGTTTGCCACTGAAAAAAAGGAAGGAAAATGCCATGGGAACTATCTGAAGCTTATGAAAAGATGAATTTACCGGACTGATTTTGATGGGGAAGAATTTTCTTTCCTACAGTCAAGAAGTGAACCATGAGAAAGCTAGAATATTTGGCCGTACCTGTGTAAGCAAGTCTTTTTAAACCTTTTGAGTTGTTGAATTTGTTCATTCCTGACTAATTTCTTTACATACAGAGGGGCATGCATACACCAGTCAAAAATAATGAGGAGATTTTTATGGATTTTTATTCTAATTACTGCAGAATTCTCTCTTCATTGATACCATTTATGTGAAATGGTTTTCAGGGTAGGATAATGTCCTCTGAAGGGTGAATCACGTACCACTAGTATATGGATTAAACTTAAAATTTAAAATATATATATTTAAGATTTTATCTCCATAGTATTTGAAAATAATTAATCAGCACATTAAACCTCAGTTGTTACAAAGATTATTGCCTAGATAAAACCAGGTTGATTTTAAAAGGGAAGGAGTGAATTTAATGTCAATACTCTAAAAGGTTAAATATTGCAGGTAGCACACAAATAAAGGAACAATTATGAAATCAAAGTATAAAGGCCTGAAGTTTGGCAAACACTGGAGGAACATAGTTCCTTTCAAACACAAGCTAACTCTCTTGCCAGGCATTAAGCTTCTCTTCTGTAGACTGTGGATAAATAACTTGGAGAAAAATAGGAGAGGAGAAGTCAGTCAAGAATGGATTGTGTTGCCTTTTTATTTCTATCTTGATTGTGTTAGGCCATGAAATTCTTAGTCTACATAGGTATGACTTTCAAAAATATGTATTTTTTTCATTTATCTCATGAATAACATTTGTTTTACTTGCAGGTAACAATATATACCCAGTATGTGGTGTTGCCTTAGCTTTTACTTCCTTTAGCATTTCATTTTCCAAGTCCTTTATCAAACATAAACTGTCATAACACAGCTTTCTTTTCCCTCAACCCTTGTAGTTTGTTTTTTCCTACAGTTAACATTGCAGAGCTAGGAAGCAGATAAGACAGTCTTGGCCAAGTCAGGCAAGATGTTTTAAATAAAAAGATACCATGAGCAGAATTAAATAATGGCAAAGGGTCAAAGTAATTCCCCTCTTCATAATAGCTGCCTTACTAATGAGAATTTTCAAGTATGAAGTGTGCTGTAGAAAATGTACCACTTACTCAAGTTTTCTTTCAGATTCAAAATTACGTTAAAATTGGAATTACTGTGGTTTACTAATAACAGATTTGGAATAATATTATGTTTGCCTGTTTGTCTCTATATTTTCTTGTTGTTTCTTTGGATCTCATATCAAATCTTTTCAGTAGTAAATTTAAGAAAATATGTACTTTTCTTAACTTCCATATTTTGTTTTATTTCTTGCGCTGCCTCGTGGTGACTTTGTTTTAATTGGTAACTGCATTTTTACAAATGAGCCTAACACTCCTCTTCACATTAAAAATGCAACAAATGAAGCATGAGAAATAATTTATATAACATGTTTTTCCCTCCTCCTTTTTAGATGGTAAGGTTGAAGTTACAAAAGAAGGTGTGAAGTTGTGTACCATGGGTCCAGGAAAAGTGTTTGGGGAATTGGCTATTCTTTACAACTGTACCCGGACAGCGACCGTCAAGAGTAAGACTATTTTCATATTTTTAAAATATTTTCAATGTCTTTTCCCTAGGCCTTTGAGATGTTGTTTAAAATGCCCATTCATTTAATCTTTATACTTTTATTTCTTTGTATTTTAATTTTTGCCCTGCAATATAGCTGATGTATTTGTTTTCCTACTAAAGGTGATTGTTAACAATCAGTTTTGTATAATTACATTTTCTTGCTGACTTCTGAAAATTATCCTTTAATCAATAACTTCTCATAATTAGGATTTTTTAAATCATATAATTTTATACATTTGAATCAAATAAGAGCAAGTCCTTTTCTCTCTTTATAGTCTCAGGATCATATTTAAGAAATTTTTACATGTCTGTCTATTTTGGGTTATATTCTTCACATAAATTCCACTTGTTTACTCAGTGGTTTAGAAAAATTAAGAGAAGAAATGTCCTTCATCTCATTCAAACATCATTGAGTAAGATATCTCCTGAATTCTAAAACTGCATCTGAGTATATTTTTGCCCTCAGCTGCTCATCAAGCTGTATATTATAGCATTTATCTTTTCTACTGATTGAGCTTATTTTAAATCAGGGCAATAAAGCAGCTTGTTTCCCTAATTTTACATGTATGTGTATATATGATTTCTCTAGCAACTTTTATTGCTTGGCAGAAGCAGCTGCAATAGTTAGAAGGAAAAAGATTTTTTTAAAAAAAATCTGCTTCCTGAATAAGTATATAATGACTGTATAACAAACAGAGCTGAATTCAAAAGTCAACAATGTAAGGTTCATTGCATCTTTAGGCAAACGTGTGTATTTCATGTTTGAAAAGTCCTTCTGACACATTTTCCTGTGGTTGATTTCAGTCACAGATTACTTTGATTAGGTTTTGTCATTTAAAAAAAATGCTATTGGCAAAATGACAAGTACATTGTGAATTTCAATTAGTTTTATCTGGATCTCGTTGACTACTTTTTGTATTAGTTTTTTCCTTCAGAAGTACAGCATATAACTGAAAATACAACAATGAAATTGGATTTAAAAAAAACATAAGAATGCACGGCCAACTGGAGTCCCAGAAATTGTCTTATACATCTTATTAGTGAAATCACCTTTTTATTCATTGGATTCACTGTAACACCAATTGCAAATGGGCCCCTTTTAGGATGAGTCTTCCTTGGCAGTTGATTCTTGATCTCTGAAAGCATAGGACTCTTTTGATTGATAGATGCTGCCATGTTTTTACTTCAAGTGATCATTCAATTACATAGCTCAAAGAATGAGACTCAGTGAACCATAATAGAATCTGCCACAACTTTTAACTTACTTAAAAAGAACCTTAACTATAGAAAGAATAGTCATGGCTCCATTAAGTGAAACAATTTTTACAATCATGCTTCATTTTCATGAGAAATATATTCCTTTTAAGATAAAAAAGACCAGAATAGCATATTTTGATGATATCTCAGTATTATAAGTATTTTTTTGTTTTGAAGTATTTAAAATTTTTAAATATTTCAGGCTTGTACACTGCTTGATACTTTAATCTAATTGAAACTACAAAATTTCCAAAAGCCAACAGTTGGTAATAACATGGTAGTTAATCTTATGAAACATGGAATTTTTATTAAAGAAATATTTTAAGTAGTTTATTTACATGAATTTTACAGCAAAGATTTTTAATGAAATGATTTGTTTGCTTCATAAACATCAGTTTTCTTATTAGAGTTCTATATAATGATGTTCGTCTGCACTAACATCTATTGTACTCTGATTTGGCAAATTTAAATAGACACTGTGAATCTAATTCAACAAGAAGAAACTAGATGTTGAATGCAAATTATAAGCCTAACTCTTTTGGGGTCAGAACATCCATCTTCAAAGAAAATGAGTAATGGGACATGTTCTTCTTTAACACAGACTCAGAGAAAGCTCAAGAATGCATCCGTGCATGTGTGTGTGTTTGTTTCTTCACAGTGCCTACTTAAGATATAAAAGTTGTGTTGACAAAAGAGCCTAGAGTTGGTGATGTGCAAATATATATCTGCATT
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GGTTAGTTTCTGTAGTAGATGATGGAATATTATGCTTCAATGTCATCTAATAAATCATACCTCCATATAAATTATAAAGAAATTATGCCAGTGATAAGAGCAAGCATTTATTAAGCATTTGCTATGTGCAGGGCACTGTGTTAAGAATTTTACCTGCTTTATCTCACTTAATTTTGACAATCATCCAATGAAATAGGTGCTTTTATTGTATCTATTTCACTGAGGCAAAGAGAAGTTAAGCAATTTGCCCAAGGTCATAAGGCCAGTAAGGAACAGAAAAGAGAACCAGAACTAAACTTTTGGTCTATCTTTAGATGATTTATAAATTTTTTAACCTCTGTGTGGTATTCTGTCCTGTCTCTCATTCTTGAGTGGTAGATGAAATTTCTAGGGGCATAGGTTTGCCACTGAAAAAAAGGAAGGAAAATGCCATGGGAACTATCTGAAGCTTATGAAAAGATGAATTTACCGGACTGATTTTGATGGGGAAGAATTTTCTTTCCTACAGTCAAGAAGTGAACCATGAGAAAGCTAGAATATTTGGCCGTACCTGTGTAAGCAAGTCTTTTTAAACCTTTTGAGTTGTTGAATTTGTTCATTCCTGACTAATTTCTTTACATACAGAGGGGCATGCATACACCAGTCAAAAATAATGAGGAGATTTTTATGGATTTTTATTCTAATTACTGCAGAATTCTCTCTTCATTGATACCATTTATGTGAAATGGTTTTCAGGGTAGGATAATGTCCTCTGAAGGGTGAATCACGTACCACTAGTATATGGATTAAACTTAAAATTTAAAATATATATATTTAAGATTTTATCTCCATAGTATTTGAAAATAATTAATCAGCACATTAAACCTCAGTTGTTACAAAGATTATTGCCTAGATAAAACCAGGTTGATTTTAAAAGGGAAGGAGTGAATTTAATGTCAATACTCTAAAAGGTTAAATATTGCAGGTAGCACACAAATAAAGGAACAATTATGAAATCAAAGTATAAAGGCCTGAAGTTTGGCAAACACTGGAGGAACATAGTTCCTTTCAAACACAAGCTAACTCTCTTGCCAGGCATTAAGCTTCTCTTCTGTAGACTGTGGATAAATAACTTGGAGAAAAATAGGAGAGGAGAAGTCAGTCAAGAATGGATTGTGTTGCCTTTTTATTTCTATCTTGATTGTGTTAGGCCATGAAATTCTTAGTCTACATAGGTATGACTTTCAAAAATATGTATTTTTTTCATTTATCTCATGAATAACATTTGTTTTACTTGCAGGTAACAATATATACCCAGTATGTGGTGTTGCCTTAGCTTTTACTTCCTTTAGCATTTCATTTTCCAAGTCCTTTATCAAACATAAACTGTCATAACACAGCTTTCTTTTCCCTCAACCCTTGTAGTTTGTTTTTTCCTACAGTTAACATTGCAGAGCTAGGAAGCAGATAAGACAGTCTTGGCCAAGTCAGGCAAGATGTTTTAAATAAAAAGATACCATGAGCAGAATTAAATAATGGCAAAGGGTCAAAGTAATTCCCCTCTTCATAATAGCTGCCTTACTAATGAGAATTTTCAAGTATGAAGTGTGCTGTAGAAAATGTACCACTTACTCAAGTTTTCTTTCAGATTCAAAATTACGTTAAAATTGGAATTACTGTGGTTTACTAATAACAGATTTGGAATAATATTATGTTTGCCTGTTTGTCTCTATATTTTCTTGTTGTTTCTTTGGATCTCATATCAAATCTTTTCAGTAGTAAATTTAAGAAAATATGTACTTTTCTTAACTTCCATATTTTGTTTTATTTCTTGCGCTGCCTCGTGGTGACTTTGTTTTAATTGGTAACTGCATTTTTACAAATGAGCCTAACACTCCTCTTCACATTAAAAATGCAACAAATGAAGCATGAGAAATAATTTATATAACATGTTTTTCCCTCCTCCTTTTTAGATGGTAAGGTTGAAGTTACAAAAGAAGGTGTGAAGTTGTGTACCATGGGTCCAGGAAAAGTGTTTGGGGAATTGGCTATTCTTTACAACTGTACCCAGACAGCGACCGTCAAGAGTAAGACTATTTTCATATTTTTAAAATATTTTCAATGTCTTTTCCCTAGGCCTTTGAGATGTTGTTTAAAATGCCCATTCATTTAATCTTTATACTTTTATTTCTTTGTATTTTAATTTTTGCCCTGCAATATAGCTGATGTATTTGTTTTCCTACTAAAGGTGATTGTTAACAATCAGTTTTGTATAATTACATTTTCTTGCTGACTTCTGAAAATTATCCTTTAATCAATAACTTCTCATAATTAGGATTTTTTAAATCATATAATTTTATACATTTGAATCAAATAAGAGCAAGTCCTTTTCTCTCTTTATAGTCTCAGGATCATATTTAAGAAATTTTTACATGTCTGTCTATTTTGGGTTATATTCTTCACATAAATTCCACTTGTTTACTCAGTGGTTTAGAAAAATTAAGAGAAGAAATGTCCTTCATCTCATTCAAACATCATTGAGTAAGATATCTCCTGAATTCTAAAACTGCATCTGAGTATATTTTTGCCCTCAGCTGCTCATCAAGCTGTATATTATAGCATTTATCTTTTCTACTGATTGAGCTTATTTTAAATCAGGGCAATAAAGCAGCTTGTTTCCCTAATTTTACATGTATGTGTATATATGATTTCTCTAGCAACTTTTATTGCTTGGCAGAAGCAGCTGCAATAGTTAGAAGGAAAAAGATTTTTTTAAAAAAAATCTGCTTCCTGAATAAGTATATAATGACTGTATAACAAACAGAGCTGAATTCAAAAGTCAACAATGTAAGGTTCATTGCATCTTTAGGCAAACGTGTGTATTTCATGTTTGAAAAGTCCTTCTGACACATTTTCCTGTGGTTGATTTCAGTCACAGATTACTTTGATTAGGTTTTGTCATTTAAAAAAAATGCTATTGGCAAAATGACAAGTACATTGTGAATTTCAATTAGTTTTATCTGGATCTCGTTGACTACTTTTTGTATTAGTTTTTTCCTTCAGAAGTACAGCATATAACTGAAAATACAACAATGAAATTGGATTTAAAAAAAACATAAGAATGCACGGCCAACTGGAGTCCCAGAAATTGTCTTATACATCTTATTAGTGAAATCACCTTTTTATTCATTGGATTCACTGTAACACCAATTGCAAATGGGCCCCTTTTAGGATGAGTCTTCCTTGGCAGTTGATTCTTGATCTCTGAAAGCATAGGACTCTTTTGATTGATAGATGCTGCCATGTTTTTACTTCAAGTGATCATTCAATTACATAGCTCAAAGAATGAGACTCAGTGAACCATAATAGAATCTGCCACAACTTTTAACTTACTTAAAAAGAACCTTAACTATAGAAAGAATAGTCATGGCTCCATTAAGTGAAACAATTTTTACAATCATGCTTCATTTTCATGAGAAATATATTCCTTTTAAGATAAAAAAGACCAGAATAGCATATTTTGATGATATCTCAGTATTATAAGTATTTTTTTGTTTTGAAGTATTTAAAATTTTTAAATATTTCAGGCTTGTACACTGCTTGATACTTTAATCTAATTGAAACTACAAAATTTCCAAAAGCCAACAGTTGGTAATAACATGGTAGTTAATCTTATGAAACATGGAATTTTTATTAAAGAAATATTTTAAGTAGTTTATTTACATGAATTTTACAGCAAAGATTTTTAATGAAATGATTTGTTTGCTTCATAAACATCAGTTTTCTTATTAGAGTTCTATATAATGATGTTCGTCTGCACTAACATCTATTGTACTCTGATTTGGCAAATTTAAATAGACACTGTGAATCTAATTCAACAAGAAGAAACTAGATGTTGAATGCAAATTATAAGCCTAACTCTTTTGGGGTCAGAACATCCATCTTCAAAGAAAATGAGTAATGGGACATGTTCTTCTTTAACACAGACTCAGAGAAAGCTCAAGAATGCATCCGTGCATGTGTGTGTGTTTGTTTCTTCACAGTGCCTACTTAAGATATAAAAGTTGTGTTGACAAAAGAGCCTAGAGTTGGTGATGTGCAAATATATATCTGCATT
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Task1_train_13922
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An alteration has been detected in PRKG1 (protein kinase cGMP-dependent 1) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
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GGTTAGTTTCTGTAGTAGATGATGGAATATTATGCTTCAATGTCATCTAATAAATCATACCTCCATATAAATTATAAAGAAATTATGCCAGTGATAAGAGCAAGCATTTATTAAGCATTTGCTATGTGCAGGGCACTGTGTTAAGAATTTTACCTGCTTTATCTCACTTAATTTTGACAATCATCCAATGAAATAGGTGCTTTTATTGTATCTATTTCACTGAGGCAAAGAGAAGTTAAGCAATTTGCCCAAGGTCATAAGGCCAGTAAGGAACAGAAAAGAGAACCAGAACTAAACTTTTGGTCTATCTTTAGATGATTTATAAATTTTTTAACCTCTGTGTGGTATTCTGTCCTGTCTCTCATTCTTGAGTGGTAGATGAAATTTCTAGGGGCATAGGTTTGCCACTGAAAAAAAGGAAGGAAAATGCCATGGGAACTATCTGAAGCTTATGAAAAGATGAATTTACCGGACTGATTTTGATGGGGAAGAATTTTCTTTCCTACAGTCAAGAAGTGAACCATGAGAAAGCTAGAATATTTGGCCGTACCTGTGTAAGCAAGTCTTTTTAAACCTTTTGAGTTGTTGAATTTGTTCATTCCTGACTAATTTCTTTACATACAGAGGGGCATGCATACACCAGTCAAAAATAATGAGGAGATTTTTATGGATTTTTATTCTAATTACTGCAGAATTCTCTCTTCATTGATACCATTTATGTGAAATGGTTTTCAGGGTAGGATAATGTCCTCTGAAGGGTGAATCACGTACCACTAGTATATGGATTAAACTTAAAATTTAAAATATATATATTTAAGATTTTATCTCCATAGTATTTGAAAATAATTAATCAGCACATTAAACCTCAGTTGTTACAAAGATTATTGCCTAGATAAAACCAGGTTGATTTTAAAAGGGAAGGAGTGAATTTAATGTCAATACTCTAAAAGGTTAAATATTGCAGGTAGCACACAAATAAAGGAACAATTATGAAATCAAAGTATAAAGGCCTGAAGTTTGGCAAACACTGGAGGAACATAGTTCCTTTCAAACACAAGCTAACTCTCTTGCCAGGCATTAAGCTTCTCTTCTGTAGACTGTGGATAAATAACTTGGAGAAAAATAGGAGAGGAGAAGTCAGTCAAGAATGGATTGTGTTGCCTTTTTATTTCTATCTTGATTGTGTTAGGCCATGAAATTCTTAGTCTACATAGGTATGACTTTCAAAAATATGTATTTTTTTCATTTATCTCATGAATAACATTTGTTTTACTTGCAGGTAACAATATATACCCAGTATGTGGTGTTGCCTTAGCTTTTACTTCCTTTAGCATTTCATTTTCCAAGTCCTTTATCAAACATAAACTGTCATAACACAGCTTTCTTTTCCCTCAACCCTTGTAGTTTGTTTTTTCCTACAGTTAACATTGCAGAGCTAGGAAGCAGATAAGACAGTCTTGGCCAAGTCAGGCAAGATGTTTTAAATAAAAAGATACCATGAGCAGAATTAAATAATGGCAAAGGGTCAAAGTAATTCCCCTCTTCATAATAGCTGCCTTACTAATGAGAATTTTCAAGTATGAAGTGTGCTGTAGAAAATGTACCACTTACTCAAGTTTTCTTTCAGATTCAAAATTACGTTAAAATTGGAATTACTGTGGTTTACTAATAACAGATTTGGAATAATATTATGTTTGCCTGTTTGTCTCTATATTTTCTTGTTGTTTCTTTGGATCTCATATCAAATCTTTTCAGTAGTAAATTTAAGAAAATATGTACTTTTCTTAACTTCCATATTTTGTTTTATTTCTTGCGCTGCCTCGTGGTGACTTTGTTTTAATTGGTAACTGCATTTTTACAAATGAGCCTAACACTCCTCTTCACATTAAAAATGCAACAAATGAAGCATGAGAAATAATTTATATAACATGTTTTTCCCTCCTCCTTTTTAGATGGTAAGGTTGAAGTTACAAAAGAAGGTGTGAAGTTGTGTACCATGGGTCCAGGAAAAGTGTTTGGGGAATTGGCTATTCTTTACAACTGTACCCGGACAGCGACCGTCAAGAGTAAGACTATTTTCATATTTTTAAAATATTTTCAATGTCTTTTCCCTAGGCCTTTGAGATGTTGTTTAAAATGCCCATTCATTTAATCTTTATACTTTTATTTCTTTGTATTTTAATTTTTGCCCTGCAATATAGCTGATGTATTTGTTTTCCTACTAAAGGTGATTGTTAACAATCAGTTTTGTATAATTACATTTTCTTGCTGACTTCTGAAAATTATCCTTTAATCAATAACTTCTCATAATTAGGATTTTTTAAATCATATAATTTTATACATTTGAATCAAATAAGAGCAAGTCCTTTTCTCTCTTTATAGTCTCAGGATCATATTTAAGAAATTTTTACATGTCTGTCTATTTTGGGTTATATTCTTCACATAAATTCCACTTGTTTACTCAGTGGTTTAGAAAAATTAAGAGAAGAAATGTCCTTCATCTCATTCAAACATCATTGAGTAAGATATCTCCTGAATTCTAAAACTGCATCTGAGTATATTTTTGCCCTCAGCTGCTCATCAAGCTGTATATTATAGCATTTATCTTTTCTACTGATTGAGCTTATTTTAAATCAGGGCAATAAAGCAGCTTGTTTCCCTAATTTTACATGTATGTGTATATATGATTTCTCTAGCAACTTTTATTGCTTGGCAGAAGCAGCTGCAATAGTTAGAAGGAAAAAGATTTTTTTAAAAAAAATCTGCTTCCTGAATAAGTATATAATGACTGTATAACAAACAGAGCTGAATTCAAAAGTCAACAATGTAAGGTTCATTGCATCTTTAGGCAAACGTGTGTATTTCATGTTTGAAAAGTCCTTCTGACACATTTTCCTGTGGTTGATTTCAGTCACAGATTACTTTGATTAGGTTTTGTCATTTAAAAAAAATGCTATTGGCAAAATGACAAGTACATTGTGAATTTCAATTAGTTTTATCTGGATCTCGTTGACTACTTTTTGTATTAGTTTTTTCCTTCAGAAGTACAGCATATAACTGAAAATACAACAATGAAATTGGATTTAAAAAAAACATAAGAATGCACGGCCAACTGGAGTCCCAGAAATTGTCTTATACATCTTATTAGTGAAATCACCTTTTTATTCATTGGATTCACTGTAACACCAATTGCAAATGGGCCCCTTTTAGGATGAGTCTTCCTTGGCAGTTGATTCTTGATCTCTGAAAGCATAGGACTCTTTTGATTGATAGATGCTGCCATGTTTTTACTTCAAGTGATCATTCAATTACATAGCTCAAAGAATGAGACTCAGTGAACCATAATAGAATCTGCCACAACTTTTAACTTACTTAAAAAGAACCTTAACTATAGAAAGAATAGTCATGGCTCCATTAAGTGAAACAATTTTTACAATCATGCTTCATTTTCATGAGAAATATATTCCTTTTAAGATAAAAAAGACCAGAATAGCATATTTTGATGATATCTCAGTATTATAAGTATTTTTTTGTTTTGAAGTATTTAAAATTTTTAAATATTTCAGGCTTGTACACTGCTTGATACTTTAATCTAATTGAAACTACAAAATTTCCAAAAGCCAACAGTTGGTAATAACATGGTAGTTAATCTTATGAAACATGGAATTTTTATTAAAGAAATATTTTAAGTAGTTTATTTACATGAATTTTACAGCAAAGATTTTTAATGAAATGATTTGTTTGCTTCATAAACATCAGTTTTCTTATTAGAGTTCTATATAATGATGTTCGTCTGCACTAACATCTATTGTACTCTGATTTGGCAAATTTAAATAGACACTGTGAATCTAATTCAACAAGAAGAAACTAGATGTTGAATGCAAATTATAAGCCTAACTCTTTTGGGGTCAGAACATCCATCTTCAAAGAAAATGAGTAATGGGACATGTTCTTCTTTAACACAGACTCAGAGAAAGCTCAAGAATGCATCCGTGCATGTGTGTGTGTTTGTTTCTTCACAGTGCCTACTTAAGATATAAAAGTTGTGTTGACAAAAGAGCCTAGAGTTGGTGATGTGCAAATATATATCTGCATT
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GGTTAGTTTCTGTAGTAGATGATGGAATATTATGCTTCAATGTCATCTAATAAATCATACCTCCATATAAATTATAAAGAAATTATGCCAGTGATAAGAGCAAGCATTTATTAAGCATTTGCTATGTGCAGGGCACTGTGTTAAGAATTTTACCTGCTTTATCTCACTTAATTTTGACAATCATCCAATGAAATAGGTGCTTTTATTGTATCTATTTCACTGAGGCAAAGAGAAGTTAAGCAATTTGCCCAAGGTCATAAGGCCAGTAAGGAACAGAAAAGAGAACCAGAACTAAACTTTTGGTCTATCTTTAGATGATTTATAAATTTTTTAACCTCTGTGTGGTATTCTGTCCTGTCTCTCATTCTTGAGTGGTAGATGAAATTTCTAGGGGCATAGGTTTGCCACTGAAAAAAAGGAAGGAAAATGCCATGGGAACTATCTGAAGCTTATGAAAAGATGAATTTACCGGACTGATTTTGATGGGGAAGAATTTTCTTTCCTACAGTCAAGAAGTGAACCATGAGAAAGCTAGAATATTTGGCCGTACCTGTGTAAGCAAGTCTTTTTAAACCTTTTGAGTTGTTGAATTTGTTCATTCCTGACTAATTTCTTTACATACAGAGGGGCATGCATACACCAGTCAAAAATAATGAGGAGATTTTTATGGATTTTTATTCTAATTACTGCAGAATTCTCTCTTCATTGATACCATTTATGTGAAATGGTTTTCAGGGTAGGATAATGTCCTCTGAAGGGTGAATCACGTACCACTAGTATATGGATTAAACTTAAAATTTAAAATATATATATTTAAGATTTTATCTCCATAGTATTTGAAAATAATTAATCAGCACATTAAACCTCAGTTGTTACAAAGATTATTGCCTAGATAAAACCAGGTTGATTTTAAAAGGGAAGGAGTGAATTTAATGTCAATACTCTAAAAGGTTAAATATTGCAGGTAGCACACAAATAAAGGAACAATTATGAAATCAAAGTATAAAGGCCTGAAGTTTGGCAAACACTGGAGGAACATAGTTCCTTTCAAACACAAGCTAACTCTCTTGCCAGGCATTAAGCTTCTCTTCTGTAGACTGTGGATAAATAACTTGGAGAAAAATAGGAGAGGAGAAGTCAGTCAAGAATGGATTGTGTTGCCTTTTTATTTCTATCTTGATTGTGTTAGGCCATGAAATTCTTAGTCTACATAGGTATGACTTTCAAAAATATGTATTTTTTTCATTTATCTCATGAATAACATTTGTTTTACTTGCAGGTAACAATATATACCCAGTATGTGGTGTTGCCTTAGCTTTTACTTCCTTTAGCATTTCATTTTCCAAGTCCTTTATCAAACATAAACTGTCATAACACAGCTTTCTTTTCCCTCAACCCTTGTAGTTTGTTTTTTCCTACAGTTAACATTGCAGAGCTAGGAAGCAGATAAGACAGTCTTGGCCAAGTCAGGCAAGATGTTTTAAATAAAAAGATACCATGAGCAGAATTAAATAATGGCAAAGGGTCAAAGTAATTCCCCTCTTCATAATAGCTGCCTTACTAATGAGAATTTTCAAGTATGAAGTGTGCTGTAGAAAATGTACCACTTACTCAAGTTTTCTTTCAGATTCAAAATTACGTTAAAATTGGAATTACTGTGGTTTACTAATAACAGATTTGGAATAATATTATGTTTGCCTGTTTGTCTCTATATTTTCTTGTTGTTTCTTTGGATCTCATATCAAATCTTTTCAGTAGTAAATTTAAGAAAATATGTACTTTTCTTAACTTCCATATTTTGTTTTATTTCTTGCGCTGCCTCGTGGTGACTTTGTTTTAATTGGTAACTGCATTTTTACAAATGAGCCTAACACTCCTCTTCACATTAAAAATGCAACAAATGAAGCATGAGAAATAATTTATATAACATGTTTTTCCCTCCTCCTTTTTAGATGGTAAGGTTGAAGTTACAAAAGAAGGTGTGAAGTTGTGTACCATGGGTCCAGGAAAAGTGTTTGGGGAATTGGCTATTCTTTACAACTGTACCCAGACAGCGACCGTCAAGAGTAAGACTATTTTCATATTTTTAAAATATTTTCAATGTCTTTTCCCTAGGCCTTTGAGATGTTGTTTAAAATGCCCATTCATTTAATCTTTATACTTTTATTTCTTTGTATTTTAATTTTTGCCCTGCAATATAGCTGATGTATTTGTTTTCCTACTAAAGGTGATTGTTAACAATCAGTTTTGTATAATTACATTTTCTTGCTGACTTCTGAAAATTATCCTTTAATCAATAACTTCTCATAATTAGGATTTTTTAAATCATATAATTTTATACATTTGAATCAAATAAGAGCAAGTCCTTTTCTCTCTTTATAGTCTCAGGATCATATTTAAGAAATTTTTACATGTCTGTCTATTTTGGGTTATATTCTTCACATAAATTCCACTTGTTTACTCAGTGGTTTAGAAAAATTAAGAGAAGAAATGTCCTTCATCTCATTCAAACATCATTGAGTAAGATATCTCCTGAATTCTAAAACTGCATCTGAGTATATTTTTGCCCTCAGCTGCTCATCAAGCTGTATATTATAGCATTTATCTTTTCTACTGATTGAGCTTATTTTAAATCAGGGCAATAAAGCAGCTTGTTTCCCTAATTTTACATGTATGTGTATATATGATTTCTCTAGCAACTTTTATTGCTTGGCAGAAGCAGCTGCAATAGTTAGAAGGAAAAAGATTTTTTTAAAAAAAATCTGCTTCCTGAATAAGTATATAATGACTGTATAACAAACAGAGCTGAATTCAAAAGTCAACAATGTAAGGTTCATTGCATCTTTAGGCAAACGTGTGTATTTCATGTTTGAAAAGTCCTTCTGACACATTTTCCTGTGGTTGATTTCAGTCACAGATTACTTTGATTAGGTTTTGTCATTTAAAAAAAATGCTATTGGCAAAATGACAAGTACATTGTGAATTTCAATTAGTTTTATCTGGATCTCGTTGACTACTTTTTGTATTAGTTTTTTCCTTCAGAAGTACAGCATATAACTGAAAATACAACAATGAAATTGGATTTAAAAAAAACATAAGAATGCACGGCCAACTGGAGTCCCAGAAATTGTCTTATACATCTTATTAGTGAAATCACCTTTTTATTCATTGGATTCACTGTAACACCAATTGCAAATGGGCCCCTTTTAGGATGAGTCTTCCTTGGCAGTTGATTCTTGATCTCTGAAAGCATAGGACTCTTTTGATTGATAGATGCTGCCATGTTTTTACTTCAAGTGATCATTCAATTACATAGCTCAAAGAATGAGACTCAGTGAACCATAATAGAATCTGCCACAACTTTTAACTTACTTAAAAAGAACCTTAACTATAGAAAGAATAGTCATGGCTCCATTAAGTGAAACAATTTTTACAATCATGCTTCATTTTCATGAGAAATATATTCCTTTTAAGATAAAAAAGACCAGAATAGCATATTTTGATGATATCTCAGTATTATAAGTATTTTTTTGTTTTGAAGTATTTAAAATTTTTAAATATTTCAGGCTTGTACACTGCTTGATACTTTAATCTAATTGAAACTACAAAATTTCCAAAAGCCAACAGTTGGTAATAACATGGTAGTTAATCTTATGAAACATGGAATTTTTATTAAAGAAATATTTTAAGTAGTTTATTTACATGAATTTTACAGCAAAGATTTTTAATGAAATGATTTGTTTGCTTCATAAACATCAGTTTTCTTATTAGAGTTCTATATAATGATGTTCGTCTGCACTAACATCTATTGTACTCTGATTTGGCAAATTTAAATAGACACTGTGAATCTAATTCAACAAGAAGAAACTAGATGTTGAATGCAAATTATAAGCCTAACTCTTTTGGGGTCAGAACATCCATCTTCAAAGAAAATGAGTAATGGGACATGTTCTTCTTTAACACAGACTCAGAGAAAGCTCAAGAATGCATCCGTGCATGTGTGTGTGTTTGTTTCTTCACAGTGCCTACTTAAGATATAAAAGTTGTGTTGACAAAAGAGCCTAGAGTTGGTGATGTGCAAATATATATCTGCATT
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Task1_train_13923
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A genomic change on Chromosome 10 affects PCDH15 (protocadherin related 15). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 23
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TTATTGGCCACATGTATGTATTCTTTTGAAAAGTGTTCATGTCCAAAAGAAAACACTTTTTGATGTTTTTATTTAATTCTTGTAATTTTAAATTCCTCATAGATGCTGGATATTAGACCTCTGTCAGATGCATAGTTTGCAAATATTTTCTCCCGTTCTGTAGGTGGTCTGTTCACTCTGTTGATAGTTTATTAAGCTGTGCAGAAGCTCTTAAGTTTAATTAGATCCCATTTGTCAATGTTTGCTTTTGTTGCAATTGCTGTTGGTTCTTTGTTACAAAATCTTTGCCTGTGCCTTTGTCCTGAATAGTATTGCCTAGGTGGTCCTCCAGGGTTTTTCTAGTTTGGAGTTTTACATTTAAGTCTTTAATCCATCTTGAGTTGATTTTTGGTTATGGTATAAGGAGGGGGGGGTCCAGCTTCAATCTTCATATGGCTAGCCAGTTCTCCCAGCACCATTTACTGAATAGGAAGTCTTTTTGCCACTACTTTTGTCAGCTTTGTCGAAGGGCAGATGGCAGTAGGTGTGCAGCCTTATAAAAATTATGTTTGTCATCATTACTTTTACCAGTCCTTTCAAGTAAAATTTTTATGTTCACCATCTTTAATAGTTTGTGTGTTTTTTTTGTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTGGGTTTTGTTTTTTTTTTTGGCTGGGATTCAACAAAATAACATAATGGCATATAACTTTAGGTATTCTACATCTATTTTGTCCAGTCAAGTTCTGATTAGCTTTTTTGCCTGCAAAAATACTTCATTTGGCTGAAAACATATTTTTATCCAATGCACATAACTATTTATTTTTCTCTCCAGCTGTTTTTTTTATTCATGCAAGTTAACTGGACCAGTGATCATTGCTGTGAGTAGACTCAAAAGTGATTCTCAGCTATTTTAGATCTGCTGTGAGAAAAACCAATAGATGTATTAATATTATAACATTGGATAAGCACTCTGGCTTTACATTTAGGAGGCATTCCTGTTCTATTCCTCAAAATCTCAAATAGAGGACCCTCAGAACTTCAGTTCTCATGTATTTTGAGGAAAAAAAGTCAAGTAGCTTCCAACAAATTCTAACACTTTGAGCCATTTTGGGAACCCAGAGAGCTGATTGCTTTCCAGGGAAATAGCAAAAATACTGGTTAAATGGTTAAATCCTAGACCACGGAATTTTTAAAAACAGAATATGTGTATACACACACACACACACACACACACACACACACACACACACACACACAAATACACCTTTTAGGGGAGAAATTGATATTTTTGCCTCAGCAGGATATCCATTTGCCTTAAAATTCTTATTCTTAGGTATGTACATCAATCATCTGGGGAGGTCCAAGCTGTGAAATCCAAACTGACAGAAATTTATAGCTCCATTAGCATTTATCAAAAATACAGGATTAAGTGTAGAAAATATGTATTCATGCTTCACCTTTCTATATCTTTACTTTAAGAGGTAAGTATTTGTATTCAGTATTTGTTAGCTCCTACCTTCAAACGGCCAAACATAATCTCCAATAACATTTCAGAATTCTACTGGGCCAAAAATGTATCCTATTGACCTGTGTGTCCTCTGACTTACGACTGCATGTTTAAATATGAATTTAAGAAAATGCTGCACTGATTATTTGGAGTTTTTCAGAATGGCTAGTGAATTCCTTGGTGATTTATTGGTAAAAAAATAAAATAAAATAACCATGTTGGACTGTTGTTTCATAACATACTTTCTATTTGGAAATTATATAATTACTCTTTGTGTTAAAAATGTATTCATACTCCCTGAAAATAGTTTCGGACATAAATATTTTTCAATGTGCATATACTGAGTTTTGCTATTATAAATTATATGTCTACAAAATACTTGAACATGATCCCATTGGGTTTTAAAACATGCAAATAAATGGAGAAAGATAAGAGTATATTTACCGGAGTTCTCAACTCAGGTATGGCAGCTTGATAAGTGAGTGGACGGCAATCACGAGTGTTTGGCACAAGGACACAAGGAAGAAACATTGGACCCAAGTCATCTCCATCCAGAACATCCACTGTGAGAGTGGTGGTGGTGGTTCGCCTCTCATTCAGATTTTGGGCACGGTCCTGTTAGGGAGAAAAACAAACAACAGGTAGTTTATAGAAATTAGGCACAATAGCCAGGAGCAGTGGCCCATACCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGGGTTTGATACCAGCCTGGCAAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAATCTGGGTGTGGTGGCAGGAGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGGATCGCTTGAACTTGGGAAGCAGAAGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAACAACAACAAAAAAGAAATTAGGCACAATGTAGACTTAGTTTTCATTGAAAAAAAAAAGATTGGTAAATTAACTTGCTTAAACCAACAGTTTTAAGTGGTTGAGTCAGGATGTAAACTGAGATCCAATTGTCTTCAAAGCAACTTTCTTGAAAGTATGTTACAGTAGTTAAGCTTTTGTATGTTAGGCCTTTACCTAACAGTTCACATTACTAGACAGCCTAACCATAAAGGTCACTCTCATCTCATTAGAGCATTTACTTTAGAAACCTTGTAATTGTAAATTCCTTCTCTGCGCCTCTGAGGTGTTAATCTTTTATAAGCTGCTTGTCAGTTCTACAAACCAGGCCCATCTTTTTCATGCCCTGGGGGGCCATCTCTTTGAAATGTAATAGTCAAGGAAGAAGCCCGTATTTCCCAGTTTCTGTGGGAGGTTAGGAGCCTGACTTCCTTTGGAGGCTTGCTCCAATTTCTAAAACTACTTTCTGTCATGAAAATTCAAGGAAATTTATTTTCCTTTGGGAATGCCAATTAGTAAACACATCTGGTCTGTGATTCCCCCACACCCAAGTCCACTGGAGTGTTTAACAGCTCTCCAGCCATTTTTTCTATTAGAGATCAGTTCAGATCTAGTCTGTATTCTGGTCTCTCTTCTCTATTGCAATAGCTGTGAATACAGTCTTCCTTATCATTTAACTTTGTCTAGTGCAATTTTGCTGTAGGAATACATTGTTACTAACTAAAATCCAAAGTTTCTTTAGATTTCCTTAGTTTTTACTTAATGTCAGTTTTCTGTTTCAGGATCCCAATCAGGATACCAGTTTGCATTTAGTCATAATGGTTCCTTAGGCTCATTTTGGCTGTGACAAGTTCTCAGACTTTTGTTTTTGATGACATTGACAATTTTGAGCACTGGATATTTTGCAGAATGTCCCTTAATGGGTGTTTATCTGGTGTTTTCCTCAAGATTCAACTGCGGTTATGTGATGTATGTAGGAAAACCACAAGTCAACTGCTATTTTGACATATTTATCAAAAGTATATGATTAATATGACTTATCACTGTTGTTAACTTCATCACCTGGCTGAGGCTGTATCTAGTCAGTTTTCTCAACTATAAATTTCCTCTTTCTTGTTTCCCTTTCATTTCTTTGGAAGGAAATCATGATGGACAGCACACACTTAAAGAATGGGTAGTAATTTTATTAGAAATGTAAATTGTTTATATTTATCTGAAGAATGTTTGTCATAGGACAGAAGAAAATAATATTGGACCTAAGTCATTTCCATGAAGAACATCCATTGTCAAGGGTGGTGGTGGTAGCATCATTCATTATGACAGAATCTGGAAATGTTTTTACTTTCACAGCATTTAGTTATTATTTTGAAGAACTATTATGCTTTTCTGCCTTTTTGAATTCTATTTTGTACAACATTGACAAGTATACTTGCATGCATGTTCATGTAGCACTATTCACAACAGACAAAACTTGGCAAAAGCCCACATATTTATCAATGAATAAATGGATAAACAGATTGTGGTATGTACACACAATAGCATATGATTCAAGCATAAAAAGAAATGAAGTACTGATATATACAACAACATGAATGAGCCTTGAAAACATCATGTTT
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TTATTGGCCACATGTATGTATTCTTTTGAAAAGTGTTCATGTCCAAAAGAAAACACTTTTTGATGTTTTTATTTAATTCTTGTAATTTTAAATTCCTCATAGATGCTGGATATTAGACCTCTGTCAGATGCATAGTTTGCAAATATTTTCTCCCGTTCTGTAGGTGGTCTGTTCACTCTGTTGATAGTTTATTAAGCTGTGCAGAAGCTCTTAAGTTTAATTAGATCCCATTTGTCAATGTTTGCTTTTGTTGCAATTGCTGTTGGTTCTTTGTTACAAAATCTTTGCCTGTGCCTTTGTCCTGAATAGTATTGCCTAGGTGGTCCTCCAGGGTTTTTCTAGTTTGGAGTTTTACATTTAAGTCTTTAATCCATCTTGAGTTGATTTTTGGTTATGGTATAAGGAGGGGGGGGTCCAGCTTCAATCTTCATATGGCTAGCCAGTTCTCCCAGCACCATTTACTGAATAGGAAGTCTTTTTGCCACTACTTTTGTCAGCTTTGTCGAAGGGCAGATGGCAGTAGGTGTGCAGCCTTATAAAAATTATGTTTGTCATCATTACTTTTACCAGTCCTTTCAAGTAAAATTTTTATGTTCACCATCTTTAATAGTTTGTGTGTTTTTTTTGTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTGGGTTTTGTTTTTTTTTTTGGCTGGGATTCAACAAAATAACATAATGGCATATAACTTTAGGTATTCTACATCTATTTTGTCCAGTCAAGTTCTGATTAGCTTTTTTGCCTGCAAAAATACTTCATTTGGCTGAAAACATATTTTTATCCAATGCACATAACTATTTATTTTTCTCTCCAGCTGTTTTTTTTATTCATGCAAGTTAACTGGACCAGTGATCATTGCTGTGAGTAGACTCAAAAGTGATTCTCAGCTATTTTAGATCTGCTGTGAGAAAAACCAATAGATGTATTAATATTATAACATTGGATAAGCACTCTGGCTTTACATTTAGGAGGCATTCCTGTTCTATTCCTCAAAATCTCAAATAGAGGACCCTCAGAACTTCAGTTCTCATGTATTTTGAGGAAAAAAAGTCAAGTAGCTTCCAACAAATTCTAACACTTTGAGCCATTTTGGGAACCCAGAGAGCTGATTGCTTTCCAGGGAAATAGCAAAAATACTGGTTAAATGGTTAAATCCTAGACCACGGAATTTTTAAAAACAGAATATGTGTATACACACACACACACACACACACACACACACACACACACACACACACAAATACACCTTTTAGGGGAGAAATTGATATTTTTGCCTCAGCAGGATATCCATTTGCCTTAAAATTCTTATTCTTAGGTATGTACATCAATCATCTGGGGAGGTCCAAGCTGTGAAATCCAAACTGACAGAAATTTATAGCTCCATTAGCATTTATCAAAAATACAGGATTAAGTGTAGAAAATATGTATTCATGCTTCACCTTTCTATATCTTTACTTTAAGAGGTAAGTATTTGTATTCAGTATTTGTTAGCTCCTACCTTCAAACGGCCAAACATAATCTCCAATAACATTTCAGAATTCTACTGGGCCAAAAATGTATCCTATTGACCTGTGTGTCCTCTGACTTACGACTGCATGTTTAAATATGAATTTAAGAAAATGCTGCACTGATTATTTGGAGTTTTTCAGAATGGCTAGTGAATTCCTTGGTGATTTATTGGTAAAAAAATAAAATAAAATAACCATGTTGGACTGTTGTTTCATAACATACTTTCTATTTGGAAATTATATAATTACTCTTTGTGTTAAAAATGTATTCATACTCCCTGAAAATAGTTTCGGACATAAATATTTTTCAATGTGCATATACTGAGTTTTGCTATTATAAATTATATGTCTACAAAATACTTGAACATGATCCCATTGGGTTTTAAAACATGCAAATAAATGGAGAAAGATAAGAGTATATTTACCGGAGTTCTCAACTCAGGTATGGCAGCTTGATAAGTGAGTGGACGGCAATCACGAGTGTTTGGCACAAGGACACAAGGAAGAAACATTGGATCCAAGTCATCTCCATCCAGAACATCCACTGTGAGAGTGGTGGTGGTGGTTCGCCTCTCATTCAGATTTTGGGCACGGTCCTGTTAGGGAGAAAAACAAACAACAGGTAGTTTATAGAAATTAGGCACAATAGCCAGGAGCAGTGGCCCATACCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGGGTTTGATACCAGCCTGGCAAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAATCTGGGTGTGGTGGCAGGAGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGGATCGCTTGAACTTGGGAAGCAGAAGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAACAACAACAAAAAAGAAATTAGGCACAATGTAGACTTAGTTTTCATTGAAAAAAAAAAGATTGGTAAATTAACTTGCTTAAACCAACAGTTTTAAGTGGTTGAGTCAGGATGTAAACTGAGATCCAATTGTCTTCAAAGCAACTTTCTTGAAAGTATGTTACAGTAGTTAAGCTTTTGTATGTTAGGCCTTTACCTAACAGTTCACATTACTAGACAGCCTAACCATAAAGGTCACTCTCATCTCATTAGAGCATTTACTTTAGAAACCTTGTAATTGTAAATTCCTTCTCTGCGCCTCTGAGGTGTTAATCTTTTATAAGCTGCTTGTCAGTTCTACAAACCAGGCCCATCTTTTTCATGCCCTGGGGGGCCATCTCTTTGAAATGTAATAGTCAAGGAAGAAGCCCGTATTTCCCAGTTTCTGTGGGAGGTTAGGAGCCTGACTTCCTTTGGAGGCTTGCTCCAATTTCTAAAACTACTTTCTGTCATGAAAATTCAAGGAAATTTATTTTCCTTTGGGAATGCCAATTAGTAAACACATCTGGTCTGTGATTCCCCCACACCCAAGTCCACTGGAGTGTTTAACAGCTCTCCAGCCATTTTTTCTATTAGAGATCAGTTCAGATCTAGTCTGTATTCTGGTCTCTCTTCTCTATTGCAATAGCTGTGAATACAGTCTTCCTTATCATTTAACTTTGTCTAGTGCAATTTTGCTGTAGGAATACATTGTTACTAACTAAAATCCAAAGTTTCTTTAGATTTCCTTAGTTTTTACTTAATGTCAGTTTTCTGTTTCAGGATCCCAATCAGGATACCAGTTTGCATTTAGTCATAATGGTTCCTTAGGCTCATTTTGGCTGTGACAAGTTCTCAGACTTTTGTTTTTGATGACATTGACAATTTTGAGCACTGGATATTTTGCAGAATGTCCCTTAATGGGTGTTTATCTGGTGTTTTCCTCAAGATTCAACTGCGGTTATGTGATGTATGTAGGAAAACCACAAGTCAACTGCTATTTTGACATATTTATCAAAAGTATATGATTAATATGACTTATCACTGTTGTTAACTTCATCACCTGGCTGAGGCTGTATCTAGTCAGTTTTCTCAACTATAAATTTCCTCTTTCTTGTTTCCCTTTCATTTCTTTGGAAGGAAATCATGATGGACAGCACACACTTAAAGAATGGGTAGTAATTTTATTAGAAATGTAAATTGTTTATATTTATCTGAAGAATGTTTGTCATAGGACAGAAGAAAATAATATTGGACCTAAGTCATTTCCATGAAGAACATCCATTGTCAAGGGTGGTGGTGGTAGCATCATTCATTATGACAGAATCTGGAAATGTTTTTACTTTCACAGCATTTAGTTATTATTTTGAAGAACTATTATGCTTTTCTGCCTTTTTGAATTCTATTTTGTACAACATTGACAAGTATACTTGCATGCATGTTCATGTAGCACTATTCACAACAGACAAAACTTGGCAAAAGCCCACATATTTATCAATGAATAAATGGATAAACAGATTGTGGTATGTACACACAATAGCATATGATTCAAGCATAAAAAGAAATGAAGTACTGATATATACAACAACATGAATGAGCCTTGAAAACATCATGTTT
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Task1_train_13924
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The gene EGR2 (early growth response 2) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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ATCAATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTC
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ATCAATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCCCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTC
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Task1_train_13925
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Gene EGR2 (early growth response 2) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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TCAATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCC
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TCAATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTTATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCC
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Task1_train_13926
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The variant affects gene EGR2 (early growth response 2), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Dejerine-Sottas disease
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AATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGC
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AATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCACCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGC
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Task1_train_13927
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Gene EGR2 (early growth response 2), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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CTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGG
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CTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCAGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGG
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Task1_train_13928
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A genetic alteration is present in EGR2 (early growth response 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Charcot-Marie-Tooth disease type 1D
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TTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGA
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TTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGTGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGA
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Task1_train_13929
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The gene EGR2 (early growth response 2) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; ERG2-related disorder
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TTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGA
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TTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGTGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGA
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Task1_train_13930
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The gene EGR2 (early growth response 2) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Dejerine-Sottas disease
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CCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGA
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CCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGTTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGA
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Task1_train_13931
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Here is a variant affecting EGR2 (early growth response 2) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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CCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAG
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CCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGCGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAG
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Task1_train_13932
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A sequence alteration has been identified in EGR2 (early growth response 2) on Chromosome 10. Is it disease-inducing or harmless?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTG
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CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGAGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTG
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Task1_train_13933
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Here is a mutation in EGR2 (early growth response 2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Charcot-Marie-Tooth disease type 1D
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CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTG
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CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGTGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTG
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Task1_train_13934
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Located on Chromosome 10, this mutation impacts EGR2 (early growth response 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTG
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CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGTGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTG
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Task1_train_13935
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A variant has been detected on Chromosome 10 in EGR2 (early growth response 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Charcot-Marie-Tooth disease, type I
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TGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGC
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TGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCAGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGC
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Task1_train_13936
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Chromosome 10 houses a mutation in gene EGR2 (early growth response 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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CTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGCTGCCGGCCAGAGGGCCTACGCAAGCCTCGAAACCCGGGGGGACGCCTCTTCCACCCCCATCCCTG
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CTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCTGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGCTGCCGGCCAGAGGGCCTACGCAAGCCTCGAAACCCGGGGGGACGCCTCTTCCACCCCCATCCCTG
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Task1_train_13937
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Consider this mutation in EGR2 (early growth response 2) on Chromosome 10. Is this a benign change or a disease-causing variant?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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TGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGCTGCCGGCCAGAGGGCCTACGCAAGCCTCGAAACCCGGGGGGACGCCTCTTCCACCCCCATCCCTGC
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TGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCATGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGCTGCCGGCCAGAGGGCCTACGCAAGCCTCGAAACCCGGGGGGACGCCTCTTCCACCCCCATCCCTGC
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Task1_train_13938
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A variant was discovered in gene EGR2 (early growth response 2), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Dejerine-Sottas disease
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TGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGCTGCCGGCCAGAGGGCCTACGCAAGCCTCGAAACCCGGGGGGACGCCTCTTCCACCCCCATCCCTGC
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TGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCATGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGCTGCCGGCCAGAGGGCCTACGCAAGCCTCGAAACCCGGGGGGACGCCTCTTCCACCCCCATCCCTGC
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Task1_train_13939
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Given this variant in gene EGR2 (early growth response 2) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Charcot-Marie-Tooth disease type 1D
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AATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGCTGCCGGCCAGAGGGCCTACGCAAGCCTCGAAACCCGGGGGGACGCCTCTTCCACCCCCATCCCTGCGCTCGCCCGGGGCTGGGCGCGCCGGGGCGCACGCACGCCGGTTTGCTGGCGACCTGGCGCATCTGCCCGCGCGCCCTGGTCTCAGCTGTCGCAGGTTCCTCCTGCACCCACTTCCAGTCTTCAAAGCCAGTGCAGTCAGCACCGTCCACCTGGAGCCCCAATCCTCTCCTGCGATTCCCGCACACCCACTGCACCCCATCCACCACCTCCGGGCCGCGCAGGTCCGGGCCTGCGAAGACACGCGGCTTACCTCCGGCCACTCCGTTCATCTG
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AATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGTTTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGCTGCCGGCCAGAGGGCCTACGCAAGCCTCGAAACCCGGGGGGACGCCTCTTCCACCCCCATCCCTGCGCTCGCCCGGGGCTGGGCGCGCCGGGGCGCACGCACGCCGGTTTGCTGGCGACCTGGCGCATCTGCCCGCGCGCCCTGGTCTCAGCTGTCGCAGGTTCCTCCTGCACCCACTTCCAGTCTTCAAAGCCAGTGCAGTCAGCACCGTCCACCTGGAGCCCCAATCCTCTCCTGCGATTCCCGCACACCCACTGCACCCCATCCACCACCTCCGGGCCGCGCAGGTCCGGGCCTGCGAAGACACGCGGCTTACCTCCGGCCACTCCGTTCATCTG
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Task1_train_13940
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This variant lies on Chromosome 10 and affects the gene EGR2 (early growth response 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Charcot-Marie-Tooth disease type 4E
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AATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGATTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGCTGCCGGCCAGAGGGCCTACGCAAGCCTCGAAACCCGGGGGGACGCCTCTTCCACCCCCATCCCTGCGCTCGCCCGGGGCTGGGCGCGCCGGGGCGCACGCACGCCGGTTTGCTGGCGACCTGGCGCATCTGCCCGCGCGCCCTGGTCTCAGCTGTCGCAGGTTCCTCCTGCACCCACTTCCAGTCTTCAAAGCCAGTGCAGTCAGCACCGTCCACCTGGAGCCCCAATCCTCTCCTGCGATTCCCGCACACCCACTGCACCCCATCCACCACCTCCGGGCCGCGCAGGTCCGGGCCTGCGAAGACACGCGGCTTACCTCCGGCCACTCCGTTCATCTG
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AATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCTAATGACCAAACAAATCAGCTCCGGTAACATTATGTACATTCTTATCTGAAATTTGACTACAAAGGTAACACTTTTAAGTCACAAAACAAAGCATACAAAAATATACTTTCTAAAAAAAATTCCAAATATTAATAGGCAGAAATATACAGCCATACTAAACTCAGGGAGTGATTTTTTTTCTCCATAATAAGGCAACCCATTTACATGCAGACCTTGTAACATTGTCTACATCACACAAGGCACCAAGGACACTTCCAACACAATTGCATGCATCCTAGTTTCAGAGAATATATGTACATCCCCCTTAAATAAGTTAACCTCTGAGATCATAAATGCTTTACATTTTTTCCCAAAGATTCAGAATTTAGAGAACAGTGTACATCAAAAATACACAAAATCTGAGTGGATATACACTGAAAAAATAGCCTACATTTCTCAAACAACTCGAAAAGGAGCAGATATTGCTATGTTCCTCCCATCACATTGCACTTCTGTTCTCTGAGTTTATAATACATATTGCTTCAAGGGTTGAGACAACTAGATATGCTCTGATTCACCATTTTAGGGCCACAGAGTGTGGCATAAAGGCTATACTTCACTCACTGTACAATGTCCCCCAAATCAGTCCCAAGCCATAAAGTGCACATCAGTTTTGCTTGTCTTTTTGCTGTCCCCACTTGAAGGGATCAGCATCTCCCAACCTATTGTAGAAAACGTCTTAGATCAACTCTGACATCCAGGGTCAAAAACCTGTGATGGGTCAAAATAAGGGGAAGTGGGGTAGCAAAACCTAGTCAAACAACCCTTTAAAGCAGGGTCAGACCTCAGCCCTCTTGGCCAGGGGTCCCCACACCACCTCCTTCTGAGCCTCCCCTTTGCCTTGGGTTGATAGTCAACTCACCTAAGAGAGACTAGAATGGGCTAAGTTTTAGGAAGAACCTGCTTCTAGGTGGAAAGGGGGCAGTGCTAGCTCCACCAAAGCCCTTTGCCCAACAAAGGGAGAGAGGGACAGGAAAGGGTGGTAGTGTTTGTTGTGCAGCTCCAGTGGACAAAGGGCCTCCGGGACCTTTGGGAGCTGGTGTATCAGCCTGAGTCTCATCTCAAGGTGTCCGGGTCCGAGAGGAGCAAGGGGCGAGCGGCCCTCCGCCAAGACTGCTGCTGTTACTGCTGCACAGGGTACCCCCAGGCTGCACGCCCCCAGAGCAGGAGGCTGTAGAGGGGGCTGGCACCGATGCAGAGGGGGCACTGCTTTTCCGCTCTTTCTGTCTCAGGTGGATCTTGGTGTGGCGCTTCCTCTCATCACTCCGGGCAAACTTTCGGCCACAGTAGTCACAGGCGAAGGGCTTCTCACCGGTGTGGGTGCGGATATGGGTGGTGAGGTGGTCACTGCGGCTGAAGTTGCGCATGCAGATCCGACACTGGAAGGGCTTATGCCCAGTGTGGATTCGGATGTGCCGTGTCAGCTCGTCAGAGCGGGAGAACCGCCGGTCGCAGCCTTCTGCTGGGCACGGGTAGGGCCTCTCGTGCACCGGCGTCTTGCTGGGTCTGTTGGGGTACTTGCGAGGCCTCAGAATGGGCCGCAGTGGCAGGTGGTGTGGGTTATAGGCGGCGGCGGCGGCGGCTGCTGCTGCTGCTGAGCTGCTACCAGGCAGCCGGGGTCCCTCGCTGCCTCCACTGGCCCCTGGTCCGGTCACCCCAGCACTGGGGCCCCCCAGGGTAAAGTTACGGTTTGTAGAGAGTGGAGTGAGTGGAGGGGGCACCCGCAGGGTGTCCAGTGGGCAGGGAAAGGGCTTACGGTCTGGGCCAGCTGTACCATGTAGGTCTCTCTGGCACTGAGATGGAAAGAATCCAGGATAGTCTGGGATCATTGGGAAGAGACCTGGGTCCGTGGCTGGCTTGGGGGATGGATAGGAAGGAGGTGGTGGGTAGGCCAGAGAGGAAGAGGTGGAGGTGGTGGCTGCTGACAGGAACGCAGAAGGGTCCTGGTAGAGGTCTCCTGCACAGCCAGAATAAGGAGGAGGAGGCGGTGGCGGAGAGTACAGGTGGTCCAGGTCAGGCTGGGTCTGGGACATGGTGCACACACCCAGGGGTCCTGTGGCCAGTGGGTTGGGGGAGGCAGAGGTGACGCTGGATGAGGCTGTGGTTGAAGCTGGGGAAGTGACCCCTTGCAAGATGCCTGCACTCACAATATTGATTATGCCTTCTGGGTAGCAGCTGGCACCAGGGTACTGAGGGTCAATGGAGAACTTGCCCATGTAAGTGAAGGTCTGGTTTCTAGGTGCAGAGACGGGAGCAAAGCTGCTGGGATATGGGAGATCCAACGACCTCTTCTCTCCAGTCATGTCAATGTTGATCATGCCATCTGGGGAGGGGAAAGGCAGAATGGAGGTGGAACAATGAAAATACAGCCAGGACTCCCTTCTCACCCCCGCTCACATAGGTCCATTTCCAAGGCCGAGAGTCTCAGCACTGTAGAGCTGTGGCAAAGTCCAAAAGGTGGGGAAATTGAGGCCCACAGACTGTAAGAAGAGGCCAGCCCAACTGTGGCAACCCATTGACAGTATGGAACTCAAGAACTACCTCCAAAAAAGCAGAATGAGCTTTTCCCAACTCCCCTCCACCCCCAGCCATCTGTGGCTCTAGTCCCCAATAAAAAACACCCAATAATAGCAACAACAATATTTTAAAAAGCCTCATCCGCCCGGAGCTTTTCTCCCTCTTTTTTGCCTGGGGGTTCCACGGCTGAGGCACCAAGACAAACACCACCCAAGAATCGACCTATCCCAGTCAGTGCCGTGATGGTGCCAAACCGAGAGGAGAGCCCGAGAAGGGGGTGGGTGATTTCCCGGCTGCTCCCCATCCCCGGCGCCTTGTGCCTTTTTCTCCCTCCCTCTCCCGCTGCGCTTCAGCCGAGGGCTGCTGGAGCGAATGGGGGATGTAGAGGAAGGAGTCCGTAGGTTTCCGTGCCCTCCCAATCTTCTCCGCCTTTCCCGACAGCCGCGCGTCCCCGCCTCAGCCCAAGGCCAGTGGCCCGGCCTCGAGGAAGGCGCGGGGGCCGCGAGAGACGACTTTCCACAGCATCGCCAAGGAAACCGGCGTCGCCGGTGCCCCCGCGGGCCTCCCTCGGCAGTCCGGGGGCTGCTTCCCGCCGTTGCGCGCCCTCCTCCACCACCCACTCGCTGCCTCCGCCGGCCGGAGCCCCCGCCTTACTAACCCCCTCAACTTCGCGGGCGGCGGGCAGGTGGGGGCGCGCCTCCAGGCCGCAAGAAGGGAGCGCTCCGAGATTTTCCCGGGGTCGGCTCTGCCCAGGAGGGAGCTACCGACGCTTTCCCCTGGCGCTTCTCCGCCGCTCGGCTCTCCAGGCGCGCAGCTCTCCCCGAGAGCCCCGAACTTTACCGTCACTTTGCCCCTGCCCCGGGAGAGGGGAGGTCGAAGTGCTGCCGGCCAGAGGGCCTACGCAAGCCTCGAAACCCGGGGGGACGCCTCTTCCACCCCCATCCCTGCGCTCGCCCGGGGCTGGGCGCGCCGGGGCGCACGCACGCCGGTTTGCTGGCGACCTGGCGCATCTGCCCGCGCGCCCTGGTCTCAGCTGTCGCAGGTTCCTCCTGCACCCACTTCCAGTCTTCAAAGCCAGTGCAGTCAGCACCGTCCACCTGGAGCCCCAATCCTCTCCTGCGATTCCCGCACACCCACTGCACCCCATCCACCACCTCCGGGCCGCGCAGGTCCGGGCCTGCGAAGACACGCGGCTTACCTCCGGCCACTCCGTTCATCTG
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Task1_train_13941
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This sequence variant lies in CTNNA3 (catenin alpha 3) on Chromosome 10. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Arrhythmogenic right ventricular dysplasia 13
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AGAGGGTCTCAGTTGGTAGGGAGCAGGGAAAAACAACAAATATATTTCAAATTATTTTGCACATTATGTTTTCTATTTATTGTCTGAAGAATACCTATAAAATATAAATTGTATATAACATACATAACAAAGTGTAGCCATTTTGGAAAACAGTATGGAGGTTCCTAAAGAAATTAGAAATAGAACTACCATTAAGAGCCAGCAATCCCTCTTCTGGGTATAACACTGAAGTAAAGGAAATCACCACTTCATAAAGATGCCTGCACTCCCATATTCACTGTATCATTATTCACAATAGTCAAGATATGAAAACAACCTAAGCATCCATCAACAGATGAATCGATAAAGAAATTGGTCTATATATACAAAGGAAAAAAGGAGAACCTGTCATTTGCCACAACATGGATGAAAGTGAAGAACATCATGCTAAGTGGAATAAGCTAGACATAGAAAGAAAACTATTGCAGGATCTCACTTATATGTAGAATCTTTGTTTAAGAAAGTCATACAGAGACAGAGAATAAAACAGTATCTACCAGGGGCTGGGGGCAGGAGTGAGGAAATGGGTCAGTGCAAATCAAAGGATACAAAGTTGCAGTTATGAAGAATGAGCTCTAGAAATCTAGTACACAACATGAAGACTATAGTTAATAATGCTGTATTCAGGATTTTTACTAAAGGAGTAGATTTAGATGCTCTTGCTACACACACAAAAAAATGGGTAACTGTGAGATTATGAATATGTCAATTTACTTTATTACAGCAACCATTTTACTATTTATATGTATTTCATAACATCATGTTGTATACCTTAAATATACACAGTAAAATTTATTTTAAAAATAAATTCACATAAATACAAAAATTTTTTTTTTTGAGACGAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTTTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGCAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACCGCACTCGGCCAAAAATTTTTTTTAAATCCCCTGTATCATACATGTGACATAAAGCTTATTGTTACTAGTATATTCATTTTAATTATTTAATTAGCAAAGGCTTCCTGATTTTCTTAAAGTTACGTTGGGGGATTGAGGGAGAAAAATATTTAAAAATCCCAAGTCTCTTTTACAAAGCTGAACAAGAAAATTTAACTTTCCTTTTCCTCCCAAAATAGATACTTGCAGAAAGCTGATATATACGAAATCATTCCACTAACCAAAGAATATTCAGCAATTATTTTAAACTGTCCTACAGTTGAGACCTATATTCATTAGAAAATTGCTGTATTATCATAAGTAAAGATCTCAAAAAGATGAAATATATGCTTTTATTATGTAATATTAACAAAGCAGCAACTTGGCTCATTCACAGTTTATGCAAAGCATTTTTTGAAAAGTTTAGGAAGTCTAAACCTCCAGAAATTTGCAAGGTTAAAAATGTACTTCTGAGATGGTCAGGTCTGAAACTTCTATTTCCCAGCTGTTTTCAAGGAACTTCATAATTTATTTATGTATAGACAAATAAATCTTCAGCTTCATTAGTCATTTCTCACTATATTCTAAGACCAAAAAAGGGTACTCTTCTCTTTGTTTATTATGGAAAAGCTATGGCAAGGCAGGGGAGGAAGAGGAATTGCCTGGGGGGACCGAGCAACTAAAAAGAAGAGCCTGGAGTGGGACTGAGCCTTGGAGCTGTCTAATGAGCCACTCTGCCTCCCACAGCTAGCTCCTCACAGCTCTGCAAAAGACTAAAAAACTGGAGCCAACAAAAACAAAACACTCACAAATCTAATTTGGGTGACTAACACCCTAAAGATATGCAGTTTGCTCCTGACCAGGATTGGAGTACTCACTTTCTTTGCGAACTTCCTCAAGTGAAGCCGTAAGCTCATCCTTTAAAACTGTAGCTTCCTGGGCAATCTTCTCTCCCTTGTCTAATAAATTCCAAGTTGCTTCCTCCACAGAAGCTAGAAGGACACTGGCTCTTTTCGAACGTCCTTTTTTCCTGCTGGAAGGGTTCTGGGGACAGTTTACAAGTGTGGTAACCTAAAATTGGAAAAATACAAAGTACTAAATTGACAAATTGTAAGGAGAACACAGTCCTGGGATATTACAGACCAGAACAAAAGACAGTACAGTTGACACTTGAGCAACTCAAGGGCTAGGGGCGCCAACCCACCGTGCAGTTGAAAATCTGAGTATAACTTTCAACTCCTCAAAAACATAACTACGAATAGCCTACTGTTGACCAGAAGCCTGATAACATAAATAGTCAATTAACACAGATTTTGTATCTGTATGTACTATATAACTATATTCCTACAATAAGATGAGCTAGAGAGACGATAGTGTTATTTGTTATTAAGAAAATCATAAGGCAGAGAAAACATAATTAAATAAATCAACAAGTAGAAATGGATCATCATAAAGGTCTTCATCCTCATCATATTCATATTCCTGAGGAAGATGAAGAAGAAGAGGAGGGTTGGTCTTGCTGCCTTGGGGGTGTAAGAGGCAGAAGAGATGGAGGAGGTGGAAGGGAAGGCAGGAGAGGCAGGCACACTTGATGTAACTTTTATTGAAAAAAAATCTGATTAAAAGTGAACCTGCATAGTTCAAACCAGTGTTGTTCAAAGGTCAACTGTATTTCATAGTAACATGACTCATTTCCAGTGCTGTTGGTACACCTACAAAAGTCAAGTCATGGCACCAAGAACAGCAACAGCAGCCACCGTGGAGTTCCCAACTAAAAATAGGAAGGAAGTGGGAGTCTTAGTGATTGAATTTCAAAATATAGACATTAAAATGTCCTCTCTTCAACTACCCCAGTCATCAAATCATTTCTATGTTAAATATTTACTGAACACCTATTTTTTACATTGTTCTGGATGATGGAAAAGAAATGCATTTCATGCTTTCATGGAGTTTACATTCTTAATATCGGCAGCATACAATAAACATATAAACAAATTTAAAAATGTAAGGTTCAGTAAATGTTTTGAGGAAAAATAAAGTTGGCGGAGGGAATACAGTGAGAGAGAGTGGGGATCGGGGTGGTCAGGAAAGGCCTCTTGACAGGGGACTTTGAGTGAGACCTGTTTGAGAGGCCAAATGAGTTAGGGGAAAGGGTAGAAGACAGATCTGAAAGGTTACAAAGGGCAAGAAAGTAGGTCATAGTAAGGATTTGGACTTTGTCCCCTGAAGCAACCACTGTTCTATATGATTCAGAATGTTTCTCCCTCTCCTAATATTAGTTATCTCTATTCTCAGCCTAAATAGACTAATACTGACTTAATTATAATTATTTTTGGCTCCCTCTTAATGTAGATTGCTGGCTTAAAAGTGGTATAAATTTTATTTTATAATTATTTGATATTTTGGAGATACATAATTTTCTACTCTCATTTTTGACTGTTTTATCAAAGTTCTGTATTTTTTATATGAAGTTTCTGTAATTAAAACAATACACACATACACAGCCTTCTAGAGCATTCTTCGAGTAGCAAAACTTGAACAAACTCCTCACCACAAGTATATGAAGTGAGAAATGTGTTAATTAGCTTGATTTAATCATTTTACAATGTATACATATATCAAAACATCACAGGGTACACCATAAATATATATAAATTTTATTCGCCAATTTTAATTTAATAAAGCTTGGGGAAAAAAAGAAAGAAATGAATCTTAACAAATACAAGAACAAACTCATAATAAGAACATTATTTGAAGATAAAAATTAAGCTTCTGTATTTGGAAACAAAAACATCATACTGAATTACATTATTAAAAAACACCCATTTCTGGCCAGGGGCAGTGGCTCATACCCATAATCCTAGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAACCTGACCAACATGGACAAA
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AGAGGGTCTCAGTTGGTAGGGAGCAGGGAAAAACAACAAATATATTTCAAATTATTTTGCACATTATGTTTTCTATTTATTGTCTGAAGAATACCTATAAAATATAAATTGTATATAACATACATAACAAAGTGTAGCCATTTTGGAAAACAGTATGGAGGTTCCTAAAGAAATTAGAAATAGAACTACCATTAAGAGCCAGCAATCCCTCTTCTGGGTATAACACTGAAGTAAAGGAAATCACCACTTCATAAAGATGCCTGCACTCCCATATTCACTGTATCATTATTCACAATAGTCAAGATATGAAAACAACCTAAGCATCCATCAACAGATGAATCGATAAAGAAATTGGTCTATATATACAAAGGAAAAAAGGAGAACCTGTCATTTGCCACAACATGGATGAAAGTGAAGAACATCATGCTAAGTGGAATAAGCTAGACATAGAAAGAAAACTATTGCAGGATCTCACTTATATGTAGAATCTTTGTTTAAGAAAGTCATACAGAGACAGAGAATAAAACAGTATCTACCAGGGGCTGGGGGCAGGAGTGAGGAAATGGGTCAGTGCAAATCAAAGGATACAAAGTTGCAGTTATGAAGAATGAGCTCTAGAAATCTAGTACACAACATGAAGACTATAGTTAATAATGCTGTATTCAGGATTTTTACTAAAGGAGTAGATTTAGATGCTCTTGCTACACACACAAAAAAATGGGTAACTGTGAGATTATGAATATGTCAATTTACTTTATTACAGCAACCATTTTACTATTTATATGTATTTCATAACATCATGTTGTATACCTTAAATATACACAGTAAAATTTATTTTAAAAATAAATTCACATAAATACAAAAATTTTTTTTTTTGAGACGAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTTTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGCAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACCGCACTCGGCCAAAAATTTTTTTTAAATCCCCTGTATCATACATGTGACATAAAGCTTATTGTTACTAGTATATTCATTTTAATTATTTAATTAGCAAAGGCTTCCTGATTTTCTTAAAGTTACGTTGGGGGATTGAGGGAGAAAAATATTTAAAAATCCCAAGTCTCTTTTACAAAGCTGAACAAGAAAATTTAACTTTCCTTTTCCTCCCAAAATAGATACTTGCAGAAAGCTGATATATACGAAATCATTCCACTAACCAAAGAATATTCAGCAATTATTTTAAACTGTCCTACAGTTGAGACCTATATTCATTAGAAAATTGCTGTATTATCATAAGTAAAGATCTCAAAAAGATGAAATATATGCTTTTATTATGTAATATTAACAAAGCAGCAACTTGGCTCATTCACAGTTTATGCAAAGCATTTTTTGAAAAGTTTAGGAAGTCTAAACCTCCAGAAATTTGCAAGGTTAAAAATGTACTTCTGAGATGGTCAGGTCTGAAACTTCTATTTCCCAGCTGTTTTCAAGGAACTTCATAATTTATTTATGTATAGACAAATAAATCTTCAGCTTCATTAGTCATTTCTCACTATATTCTAAGACCAAAAAAGGGTACTCTTCTCTTTGTTTATTATGGAAAAGCTATGGCAAGGCAGGGGAGGAAGAGGAATTGCCTGGGGGGACCGAGCAACTAAAAAGAAGAGCCTGGAGTGGGACTGAGCCTTGGAGCTGTCTAATGAGCCACTCTGCCTCCCACAGCTAGCTCCTCACAGCTCTGCAAAAGACTAAAAAACTGGAGCCAACAAAAACAAAACACTCACAAATCTAATTTGGGTGACTAACACCCTAAAGATATGCAGTTTGCTCCTGACCAGGATTGGAGTACTCACTTTCTTTGCGATCTTCCTCAAGTGAAGCCGTAAGCTCATCCTTTAAAACTGTAGCTTCCTGGGCAATCTTCTCTCCCTTGTCTAATAAATTCCAAGTTGCTTCCTCCACAGAAGCTAGAAGGACACTGGCTCTTTTCGAACGTCCTTTTTTCCTGCTGGAAGGGTTCTGGGGACAGTTTACAAGTGTGGTAACCTAAAATTGGAAAAATACAAAGTACTAAATTGACAAATTGTAAGGAGAACACAGTCCTGGGATATTACAGACCAGAACAAAAGACAGTACAGTTGACACTTGAGCAACTCAAGGGCTAGGGGCGCCAACCCACCGTGCAGTTGAAAATCTGAGTATAACTTTCAACTCCTCAAAAACATAACTACGAATAGCCTACTGTTGACCAGAAGCCTGATAACATAAATAGTCAATTAACACAGATTTTGTATCTGTATGTACTATATAACTATATTCCTACAATAAGATGAGCTAGAGAGACGATAGTGTTATTTGTTATTAAGAAAATCATAAGGCAGAGAAAACATAATTAAATAAATCAACAAGTAGAAATGGATCATCATAAAGGTCTTCATCCTCATCATATTCATATTCCTGAGGAAGATGAAGAAGAAGAGGAGGGTTGGTCTTGCTGCCTTGGGGGTGTAAGAGGCAGAAGAGATGGAGGAGGTGGAAGGGAAGGCAGGAGAGGCAGGCACACTTGATGTAACTTTTATTGAAAAAAAATCTGATTAAAAGTGAACCTGCATAGTTCAAACCAGTGTTGTTCAAAGGTCAACTGTATTTCATAGTAACATGACTCATTTCCAGTGCTGTTGGTACACCTACAAAAGTCAAGTCATGGCACCAAGAACAGCAACAGCAGCCACCGTGGAGTTCCCAACTAAAAATAGGAAGGAAGTGGGAGTCTTAGTGATTGAATTTCAAAATATAGACATTAAAATGTCCTCTCTTCAACTACCCCAGTCATCAAATCATTTCTATGTTAAATATTTACTGAACACCTATTTTTTACATTGTTCTGGATGATGGAAAAGAAATGCATTTCATGCTTTCATGGAGTTTACATTCTTAATATCGGCAGCATACAATAAACATATAAACAAATTTAAAAATGTAAGGTTCAGTAAATGTTTTGAGGAAAAATAAAGTTGGCGGAGGGAATACAGTGAGAGAGAGTGGGGATCGGGGTGGTCAGGAAAGGCCTCTTGACAGGGGACTTTGAGTGAGACCTGTTTGAGAGGCCAAATGAGTTAGGGGAAAGGGTAGAAGACAGATCTGAAAGGTTACAAAGGGCAAGAAAGTAGGTCATAGTAAGGATTTGGACTTTGTCCCCTGAAGCAACCACTGTTCTATATGATTCAGAATGTTTCTCCCTCTCCTAATATTAGTTATCTCTATTCTCAGCCTAAATAGACTAATACTGACTTAATTATAATTATTTTTGGCTCCCTCTTAATGTAGATTGCTGGCTTAAAAGTGGTATAAATTTTATTTTATAATTATTTGATATTTTGGAGATACATAATTTTCTACTCTCATTTTTGACTGTTTTATCAAAGTTCTGTATTTTTTATATGAAGTTTCTGTAATTAAAACAATACACACATACACAGCCTTCTAGAGCATTCTTCGAGTAGCAAAACTTGAACAAACTCCTCACCACAAGTATATGAAGTGAGAAATGTGTTAATTAGCTTGATTTAATCATTTTACAATGTATACATATATCAAAACATCACAGGGTACACCATAAATATATATAAATTTTATTCGCCAATTTTAATTTAATAAAGCTTGGGGAAAAAAAGAAAGAAATGAATCTTAACAAATACAAGAACAAACTCATAATAAGAACATTATTTGAAGATAAAAATTAAGCTTCTGTATTTGGAAACAAAAACATCATACTGAATTACATTATTAAAAAACACCCATTTCTGGCCAGGGGCAGTGGCTCATACCCATAATCCTAGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAACCTGACCAACATGGACAAA
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Task1_train_13942
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A mutation found in DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Hyperphenylalaninemia due to DNAJC12 deficiency
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GAACTGAACATTCATCGTGTTTACATGTAGGGGAGTGATTGTACTCCTGTGTTTGCTTAAAACACTGTTTTTCTACACTTCAGGCTTCTCCTTTGATCAGTTTGTTAAATTATAACCATTTCCAGTTACTGGGTGATGCAATCAATGTGCAGACTCCACAGCCATCTCTTGGGTAACCAACAGAGACATCTGAATCAAACTCTATGGATCTTCATTCCCAGCAAGAAGAGAAGATGTAAAAGTTCTCCCCAAAGAGAGATTTGAAGTGACTATTTCTCAAAAGACTATAATCCACCACAAGCCATCTAACTATCTTCTTTTGAATACAAGTGTTCTAGGGTGTTCAGGAACGTTCTGCTTAAAGGCTAAATTCTAATAGGGTGCTACATCACAACCCTGAGAATCAACACATAATAATTTGAAGGACAGTTACAATGTGTGTATACAATGTGTGTATATACAACACATCCAAACTAGTTGGATGGCTAGATAGATAGCCAGCCAGATAGACAAATGATACAAACAGGTAACATTTACCTAGGGCTTCCTAGAGGTGAACCGCTGTGCTAAGCATTTTTTATGTATCTCCCCATTTAATCCTCATGGTAACCCTATAAGAAGGTACTATTTTTTATTTAAGAGATGGAGTCTCACTATGTCACCCAGGATGGAATGCAAGCACCTAATCACAGGAGTGATCATCACACACAGCAGCTTTGAACTCCTGGCCTCAAGCCAGCCTCCTGCCTCAGCCTCTTGAGTAGCTAGGACTACAGGTGCACAACAATGCACCTAGATGAGCAAGTACTATTATAATCCCTATTTTATAGATGCAGAAACTGAGGTCTAGAGAAGTTAAGTAACTTTGCCAAGTAATACAGATAATAAGTAGTAGAGCTAGGATGTGAACTCAGGTAGTGTAGCTTGGTAGCCAGGAGGTAAACTTCTATAATACTCTGCTTCAGTGGATTTATAAATGATTCAGAATGTCTACAGAGCTATTTACAGATAAGGCATTATTGGGCCGGGCATGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATCATGGCAGGCGCCTGTAGTCCCAGCTACTGGGGAATCTGAGGCACAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAATGAGCTGAGATTATGCCACTGCACTCCAGCCTAGATGACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAATTAAATTCAATTCAATAAGGCATTATCATAGGATAGGGCAATGCCTTGGAACACTGACTGAAGTCAACCTGCCTTGGTTCAGACCCCTTTCCCTTCCCATACAAGCTGTATGGCTTTAAGCAAATTATTCAACCTCCTGGCCTTTGGTTTTCTCATCTATAAAATGAGAATAATATTGATATCAGCCTCACAAGCTTGTAGTGAGAATAAGTTAATATATATAAAATTAATATTAAATGAGATAATAAATGTAAACTAATATATGTAAAGAGTGTTCCTGCACATAGTAAACATTCAATCAATGTTAGCTAGCATTATGTCAGTAAAGCCAAAGACACTGAGAATTGTCTCAAGGTTTCCCTTCTGAGGAATACCTTCTAGTTTCGGTGTCAATGCTAAGTGTCTTTTAAGATGATAAACCAATCTTTAAACTTGGCACTGCTGTGCAGATTGAAAAAGTTAAGAATAAATGCAATATAAACAAAACTCTTTAATTTCAGACCTTCTCCATTCTGCAGTTATATAACGTGACTTACCTGAAGAATCTGAATTTTGCGGGGAGACTGACTTCTCTAGGGGCTTGGGTTCTTTCTGCTCCGTTTTCTCTGCGGTTGAAGCCAGCTCCTCTTTCTTTCTTTCTCTTTGCTCATTACATTCCTCATTTTCCATCTTGGTGGTATGAGTCTTGTCAGATTCTTCCAGCATCAGGTCTTTTTTACCTCTGACAACCCAGTGCATTGACTAAATTAATGTAAAGCAGAGATATAAAAATTAAATTGATATTATATGATTTTCTATATTTAAAGTTTGATATGTGGTAACACCTGACCTACTACTGTAGTGCTAATTAACAGCATGTTAGACTTGACTATTAACAAGATACTCATAAATTAATCCAGATATTAATTAATCCAACTATTAATAGTTACTTTTCACCATACACCCTTTTGTACCTTTTTCATTTTCTGTTCTGTATATGTATTTCCTATTAGATCTAAAAATTGGACAGATGGATGAATGAATGGAGGGATGGATGGATGAACTAACAAATGAATACAGTGAAAAAGAGCGCTTTTGAGTTTGCTGTATCAAGAATATTTCAAGTGGAATCATTAGCCCTACCATCAACCAAAATAATGCATAACTATTTCTTAAAACCTCATCGGGATATTGTGGGAAGCTATTCCTGAAGTACTAAGAAACAGTGACACACTACCTCTATTACCACAACTCAAGACTAGAAGGAAACATAGCCTTTAACACCCTAAAATTATAAATATTCTAGCTCTCTGCCCTAATCAAATCAAAGAAGTCATTTATTCCCACCTTCAACCTATCTCTTCCCAACTACAAAGAAGTGTCATCCTGAATCCTCTTCTCCAAATATAACCAGTCCAAAGGCTAATCAACCCCAAGATCCAAGAACCACCCCATAAAGCAGTCATTGCCACCAATAAATGTAACCAGCTCTCACCCTAACAAGAAAAAGAAAAGAGGCTGGGCACAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCATTTGAGGCAAGGAGTTCGAGACCATCCTTGGCCAACAAGGTGAAACCACGTCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGTGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGGTCTCAAAAAAAAAAAAAAAGAAAAAGAAATGGGAAGGAAAGGCACCAAAATATAACTGTAGTTATGCCTGTGTAACAGAATTACATCTTTTGTTTTTGTATTTCCCAAATTTTCTATGAGAAGATTATATATATGTACAATTAGAAAACATTGTATTTTAGGCTGGGCGCAGTGGCTCACACCTTAATCCCAGCACTCTGGGAGGCCTAGGTGGATGGATCACAAGGTCAGGAGTTCCAAACCAGCCTGGCCAACATGGTGAAACCTCACCTCTACTTAAAAAAACAAAAATTAGTTGGGCAAGGTAGTGTGTGCCTGTAATCCCAGCTACCCGGGAGGCTGAGGCACGAGAATCACTTGAATCCGGGAGGCAGAGGTTGCAGTGAGCTGGTATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAGAAAATATTCAATTTTAAAAATTAGGCGAAGTTTCGATGCAAAAACATACAAGGTGGGAGATTCCTGGTGCCAACAATATGTGTGGGAAGGGAATAGTTACAGAGTAAACACTTCAAAACCATTTGCTAAATTGTAAATGCAAGTATTACCCATTTCTCTGTAGATTTTATTTCAAAATAAAAACGTTAATTTTTAAAAGAGGCAATGCCTCAGCTGGTATTAAAAAAAAAAATGACTTTTGTTTGGTTGGTTTAGGTTTGTTGTTTTGGTTTGGTTTTTGCATATGCACAAAATAAAAGAGGCTGCCAGTGACTTCCTCTGCAGAGGGAAAAGGATATTAGGAAGGTTAGTGAAAAACAAGGAATAAGACATTCAAGAATTCAGGGCCCAGAGAGCTGAAAATGTAAACTGTGAGCTTCACAAGCCAGCAAAGTGGCCTGTACGTGATGTATTGATCTCTGTGCCTCAGTACTTCTCTCTTGAAATCAAAGTACCTGTGGTCTGTCTTAGATAGGTTAGGATTAATGTCTAATCCACAGTAAATGCTTTAA
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GAACTGAACATTCATCGTGTTTACATGTAGGGGAGTGATTGTACTCCTGTGTTTGCTTAAAACACTGTTTTTCTACACTTCAGGCTTCTCCTTTGATCAGTTTGTTAAATTATAACCATTTCCAGTTACTGGGTGATGCAATCAATGTGCAGACTCCACAGCCATCTCTTGGGTAACCAACAGAGACATCTGAATCAAACTCTATGGATCTTCATTCCCAGCAAGAAGAGAAGATGTAAAAGTTCTCCCCAAAGAGAGATTTGAAGTGACTATTTCTCAAAAGACTATAATCCACCACAAGCCATCTAACTATCTTCTTTTGAATACAAGTGTTCTAGGGTGTTCAGGAACGTTCTGCTTAAAGGCTAAATTCTAATAGGGTGCTACATCACAACCCTGAGAATCAACACATAATAATTTGAAGGACAGTTACAATGTGTGTATACAATGTGTGTATATACAACACATCCAAACTAGTTGGATGGCTAGATAGATAGCCAGCCAGATAGACAAATGATACAAACAGGTAACATTTACCTAGGGCTTCCTAGAGGTGAACCGCTGTGCTAAGCATTTTTTATGTATCTCCCCATTTAATCCTCATGGTAACCCTATAAGAAGGTACTATTTTTTATTTAAGAGATGGAGTCTCACTATGTCACCCAGGATGGAATGCAAGCACCTAATCACAGGAGTGATCATCACACACAGCAGCTTTGAACTCCTGGCCTCAAGCCAGCCTCCTGCCTCAGCCTCTTGAGTAGCTAGGACTACAGGTGCACAACAATGCACCTAGATGAGCAAGTACTATTATAATCCCTATTTTATAGATGCAGAAACTGAGGTCTAGAGAAGTTAAGTAACTTTGCCAAGTAATACAGATAATAAGTAGTAGAGCTAGGATGTGAACTCAGGTAGTGTAGCTTGGTAGCCAGGAGGTAAACTTCTATAATACTCTGCTTCAGTGGATTTATAAATGATTCAGAATGTCTACAGAGCTATTTACAGATAAGGCATTATTGGGCCGGGCATGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATCATGGCAGGCGCCTGTAGTCCCAGCTACTGGGGAATCTGAGGCACAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAATGAGCTGAGATTATGCCACTGCACTCCAGCCTAGATGACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAATTAAATTCAATTCAATAAGGCATTATCATAGGATAGGGCAATGCCTTGGAACACTGACTGAAGTCAACCTGCCTTGGTTCAGACCCCTTTCCCTTCCCATACAAGCTGTATGGCTTTAAGCAAATTATTCAACCTCCTGGCCTTTGGTTTTCTCATCTATAAAATGAGAATAATATTGATATCAGCCTCACAAGCTTGTAGTGAGAATAAGTTAATATATATAAAATTAATATTAAATGAGATAATAAATGTAAACTAATATATGTAAAGAGTGTTCCTGCACATAGTAAACATTCAATCAATGTTAGCTAGCATTATGTCAGTAAAGCCAAAGACACTGAGAATTGTCTCAAGGTTTCCCTTCTGAGGAATACCTTCTAGTTTCGGTGTCAATGCTAAGTGTCTTTTAAGATGATAAACCAATCTTTAAACTTGGCACTGCTGTGCAGATTGAAAAAGTTAAGAATAAATGCAATATAAACAAAACTCTTTAATTTCAGACCTTCTCCATTCTGCAGTTATATAACGTGACTTACCTGAAGAATCTGAATTTTGCGGGGAGACTGACTTCTCTAGGGGCTTGGGTTCTTTCTGCTCCGTTTTCTCTGCGGTTGAAGCCAGCTCCTCTTTCTTTCTTTCTCTTTGCTCATTACATTCCTCATTTTCCATCTTGGTGGTATGAGTCTTGTCAGATTCTTCCAGCATCAGGTCTTTTTTACCTCTGACAACACAGTGCATTGACTAAATTAATGTAAAGCAGAGATATAAAAATTAAATTGATATTATATGATTTTCTATATTTAAAGTTTGATATGTGGTAACACCTGACCTACTACTGTAGTGCTAATTAACAGCATGTTAGACTTGACTATTAACAAGATACTCATAAATTAATCCAGATATTAATTAATCCAACTATTAATAGTTACTTTTCACCATACACCCTTTTGTACCTTTTTCATTTTCTGTTCTGTATATGTATTTCCTATTAGATCTAAAAATTGGACAGATGGATGAATGAATGGAGGGATGGATGGATGAACTAACAAATGAATACAGTGAAAAAGAGCGCTTTTGAGTTTGCTGTATCAAGAATATTTCAAGTGGAATCATTAGCCCTACCATCAACCAAAATAATGCATAACTATTTCTTAAAACCTCATCGGGATATTGTGGGAAGCTATTCCTGAAGTACTAAGAAACAGTGACACACTACCTCTATTACCACAACTCAAGACTAGAAGGAAACATAGCCTTTAACACCCTAAAATTATAAATATTCTAGCTCTCTGCCCTAATCAAATCAAAGAAGTCATTTATTCCCACCTTCAACCTATCTCTTCCCAACTACAAAGAAGTGTCATCCTGAATCCTCTTCTCCAAATATAACCAGTCCAAAGGCTAATCAACCCCAAGATCCAAGAACCACCCCATAAAGCAGTCATTGCCACCAATAAATGTAACCAGCTCTCACCCTAACAAGAAAAAGAAAAGAGGCTGGGCACAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCATTTGAGGCAAGGAGTTCGAGACCATCCTTGGCCAACAAGGTGAAACCACGTCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGTGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGGTCTCAAAAAAAAAAAAAAAGAAAAAGAAATGGGAAGGAAAGGCACCAAAATATAACTGTAGTTATGCCTGTGTAACAGAATTACATCTTTTGTTTTTGTATTTCCCAAATTTTCTATGAGAAGATTATATATATGTACAATTAGAAAACATTGTATTTTAGGCTGGGCGCAGTGGCTCACACCTTAATCCCAGCACTCTGGGAGGCCTAGGTGGATGGATCACAAGGTCAGGAGTTCCAAACCAGCCTGGCCAACATGGTGAAACCTCACCTCTACTTAAAAAAACAAAAATTAGTTGGGCAAGGTAGTGTGTGCCTGTAATCCCAGCTACCCGGGAGGCTGAGGCACGAGAATCACTTGAATCCGGGAGGCAGAGGTTGCAGTGAGCTGGTATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAGAAAATATTCAATTTTAAAAATTAGGCGAAGTTTCGATGCAAAAACATACAAGGTGGGAGATTCCTGGTGCCAACAATATGTGTGGGAAGGGAATAGTTACAGAGTAAACACTTCAAAACCATTTGCTAAATTGTAAATGCAAGTATTACCCATTTCTCTGTAGATTTTATTTCAAAATAAAAACGTTAATTTTTAAAAGAGGCAATGCCTCAGCTGGTATTAAAAAAAAAAATGACTTTTGTTTGGTTGGTTTAGGTTTGTTGTTTTGGTTTGGTTTTTGCATATGCACAAAATAAAAGAGGCTGCCAGTGACTTCCTCTGCAGAGGGAAAAGGATATTAGGAAGGTTAGTGAAAAACAAGGAATAAGACATTCAAGAATTCAGGGCCCAGAGAGCTGAAAATGTAAACTGTGAGCTTCACAAGCCAGCAAAGTGGCCTGTACGTGATGTATTGATCTCTGTGCCTCAGTACTTCTCTCTTGAAATCAAAGTACCTGTGGTCTGTCTTAGATAGGTTAGGATTAATGTCTAATCCACAGTAAATGCTTTAA
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Task1_train_13943
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Located on Chromosome 10, this mutation impacts DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Hyperphenylalaninemia due to DNAJC12 deficiency
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GTGACAGACTTAGTGTAGGGAAAAAATACCAGTTCAGTTGCATCACTCCTGGATGATAGAAATGTGGTGGATATATACACCATGGAATATTACTCAGCCCTAAAAAAGAGCAAAATAATATCTTTTGCAGCAACTTAGATGGACCTGGAGGCCATTGTTCTAAGTGAAGTAACTTAGGAATGGAAAACCAAATATTGTATGTTCTCCATTATAAATGGGAGCTAAGCTACGGATACACAAAAGCATACAGAGTGGTATAATATAATGGACTTTGGAGACTCAAAGTGGGAGGCTGGGACGGAGAGTGAAGGATAAAAAACTACATAATGGGTACAATGTATACTACTCAGGTGATGGGTGCGCTAAAATTTCAGACTTCACCACCATACAATTCATCCATGTGTCTAAAAACCACTTGTATTAGTCCATTTCACACTGCTGTAAAGAACTACCTGAGACTCAGTAATTTATGACGAAAAGAGGTTTAATTGACTCACAGTTCCTCAGGCTTAACAGAAAGCATGACTGGGAGGCCTCAGGAAACTTACAATCATGGCGGAAGGTGAAGGGGAAGAAAGGGCCTTCTTCTCATGGTGGCAGGAAAGAGAGAGAAGGTAGAACTGCCACATACTTTTAAACCATCAGATCTCATGAGAACTCACTATCATGAGAAAAGCAAGGGGGAAATCTGCCCCCATGATCCAATCACCTCCCATCAGGACCCTCATCCAATTCAACATGAGATTTGGGCAGGACACAAATCCAAACCATATCAACACTTGTACCCCAAAAGCTATTGAAAATTTTTTGAAGTTTTTAATTTAAAAAAATGTGGCACCCCTGAGGCTGTGGCTCGTTTGAGGAATTCTCCCAAAGGAAATTCCCAAGATATGATCCTGTGTGTGATGCTACAAAAGTACACCGTGATTTGTCCTGCCTTGTGGGTATAGGGACTAATAATGTTCCCAAACAATGCTTTTCCGTTCCAGAGGGATTATACTATTTAAACAAAAAGCAGAAACACAGGGTTGATGGTGTGAAGGAAAGGGAATTTATGAGATTTAACAATCTAGCCAGGTGCGATGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGTCTTTTATCAACAATTTGCTCAAGTCTTCTAAAATAAAAACTATGAAGAAGGAAATCTAAATGTAACCCTGAAGGGCTATAATTTAAGAGATGTGAATCATTTTATACACTAATTCTAACAACTGTCCCTGAAAACTTACCTATGAGGTAATTTCTGTATTATAAGTCCCATGTCATAGAAAAGTGTTCCAATGGAGAGAATCTAGGTAATAAATCATGCCTAAATCTTTAAAATTACATTTTGTCTATAATATATAAAGGTCAATGTTGAACAAAATAAATATATGACAGTAATTATAGTGAATATTTTGATATTTATGCCTTTTAATGACATGAAGAAAGATAACACAATGTTTTTAAAGTCTAACAATTCTTTCACCAGAATGTTTAATAGGAATAATTCATGGCTTTCTCTGACTAATCAGATCCTGCCTTTTTAATGAAAATTCTAAGCCTTGAAAAGAGAGCAAGCTGACATAAACTAAAAAGATGGAGAATGTGAATTTACAATGGTTAAAACTCAGCAATTCATGAGCAACTTGAGAAGTACATTTATTAGAGCTCATAAAATAGTAAGCAATAACAGGGAGTGTGTATACTGAAACAAACAGCCAAAGAGATTGAAAGAAATGTAGTCACAGGCTCTTCTGGCACAAATTCATTGCCTTTATTCTGATGAGCTTCTCTTCATGGGATTTACGGACACTGAATTATATCCAGACTCTGCTAACTTCTTGGTTTTCTCCCTCCTATCGCCTAATGACTCTTTAAGCTACTACATGAGTCTAATCCATGGGCATCCTGAGCTTCACAAATTCACGTCGCACCCAGCGAGAAACCCACCGTCTTCACTGAGTCATTCAAAGCTTCCCACTGCTGGAATGGCATCGACATCTGGCTCCTTCGCCAGTGGTCATAGCGGGCTCGACTCTCTTCATTGGTCAGAATCTCCTTTGCCTTCTGCAGTTTCTGAAAAGTCTCCACTGGAAAACAAATCAAGAAATGAGCACTTCTCTCTCGGAGAGGATATTTTAAACTCCAAAACTATCCAACTGCTCTTACTAAAACCATGACTGCCACTTAATAGCTATGTGACCTTGGGCCAATTTACCTCATTAAGCTTTTGTAAAGGGTATCATAAGGACAAGCAAGATCATGGATGTAAAGTGCTCGGCACAGTTTATCCACTCCCTGTATTGTGCCTCAGTCATGTGCCAGAGGCTACTCCCGGTGCTGATGACACAGATGTGAATAATAGACATTATTAGCAGGGGAAAGAAACATTTGTAAACATTGAAAAAATACTATTCCACCTTATAGGAAGAAAACTACCTTTTTTAGTGCTGGGTGTGAAACAGGGCAGTAATTAGGCAAGAGGGACAGTAAAACTGAAGACTATAAAGACTATAAAACTGAAGACTATAAAGACTATAAAGACATGACTGAGGCACAATACAGGGAGTGGATAAACTGTCCCAAGCACTTTACATCCATGATCTTGTTTGTCCTTATAAAGCAGGAAGGAGCACGGTGACTTAGAGGAAGTAGTAATTGCCAGTGTGGCTGGAGGACACAAGGCTAGGGAAAGAACGATGAGGGATGGGGCTGTAGAGTAGACAGACAATAGCTCAATCAACCAGGGCCTGAGATGTCATGTTAAGGATGCTGGCCTGCTTTTTGTCGTAAGAGAAACGGGAGGCTTTAAGTATAATAAATAACATGGTAGATGCTGGGACAAATGGTAGCTTGTCACTAATCTACTTGACCAGATGGTATATAATAGAAACCTTTTATGGCTCTGTTAGAAACACCTCCAAAGTCTCTTCTGCTCCTCAGTGAAGTAAAAACTTTCTGCAGAGCAGAATACAAGATTTATATACAGGCCGGGTGCAGTGGCTCAGGCCTGTAATCCCGGCACTTCGGGAGGACAAGGTGGGTGGATCACGAGGTCAGGAATTCAAGACCCAGCCTGGCCAAGATGGTGAAACCCCATCTCTGCTAAAAATACAAAAAAAAAAAAAAAAATAGCTGGGGGTGGTGGCAGGCGCCTGTATTCCCAGCTACTCGGGGGCTGAGGCAGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGGACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAAAAAAAAGTAGCCAGGCACGGTGGCCCAGGCCTGTAATCCCAGCTACTCAGGAGCCTGAGGCAGGAGAATCGTTGGAACCCGTGAGGCAGAGCTTACAGTGAGCCGAGTTTGCACCACTGCACTCCAGCCTGTCCGACAGAGCAAGACTCCATCTCAAAACAAACAAACAAAAATTCATATGTTGAATTCTTAACTCCCAAAATGATAGTATTAGGAGATGGGGCTTTTGAGATATGATTAGATCATGAGGGTGGAACCCTCACGAATGGAATCAGTGCCCTAATAAAAGAAACCCAGACAACTCGCTCACTCTGTTTCCCCCATGTGAAAACACAGCAAGAAGACAATTAGCTAGGCATGGCGGTGGGCGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGAAGAATCTCATGAATCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTAGATGACAGAGCGAGACTCCGTCTCCAAAAAATAAAAAATCAATATACAAATATCAGTGGTGTCTCTACACAGTAGCAATGAACAATCTGAAAATGAAATTAAGAAAATTCCATTTATAAGAGCATCAAGAGCCGGACCCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGTTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGT
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GTGACAGACTTAGTGTAGGGAAAAAATACCAGTTCAGTTGCATCACTCCTGGATGATAGAAATGTGGTGGATATATACACCATGGAATATTACTCAGCCCTAAAAAAGAGCAAAATAATATCTTTTGCAGCAACTTAGATGGACCTGGAGGCCATTGTTCTAAGTGAAGTAACTTAGGAATGGAAAACCAAATATTGTATGTTCTCCATTATAAATGGGAGCTAAGCTACGGATACACAAAAGCATACAGAGTGGTATAATATAATGGACTTTGGAGACTCAAAGTGGGAGGCTGGGACGGAGAGTGAAGGATAAAAAACTACATAATGGGTACAATGTATACTACTCAGGTGATGGGTGCGCTAAAATTTCAGACTTCACCACCATACAATTCATCCATGTGTCTAAAAACCACTTGTATTAGTCCATTTCACACTGCTGTAAAGAACTACCTGAGACTCAGTAATTTATGACGAAAAGAGGTTTAATTGACTCACAGTTCCTCAGGCTTAACAGAAAGCATGACTGGGAGGCCTCAGGAAACTTACAATCATGGCGGAAGGTGAAGGGGAAGAAAGGGCCTTCTTCTCATGGTGGCAGGAAAGAGAGAGAAGGTAGAACTGCCACATACTTTTAAACCATCAGATCTCATGAGAACTCACTATCATGAGAAAAGCAAGGGGGAAATCTGCCCCCATGATCCAATCACCTCCCATCAGGACCCTCATCCAATTCAACATGAGATTTGGGCAGGACACAAATCCAAACCATATCAACACTTGTACCCCAAAAGCTATTGAAAATTTTTTGAAGTTTTTAATTTAAAAAAATGTGGCACCCCTGAGGCTGTGGCTCGTTTGAGGAATTCTCCCAAAGGAAATTCCCAAGATATGATCCTGTGTGTGATGCTACAAAAGTACACCGTGATTTGTCCTGCCTTGTGGGTATAGGGACTAATAATGTTCCCAAACAATGCTTTTCCGTTCCAGAGGGATTATACTATTTAAACAAAAAGCAGAAACACAGGGTTGATGGTGTGAAGGAAAGGGAATTTATGAGATTTAACAATCTAGCCAGGTGCGATGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGTCTTTTATCAACAATTTGCTCAAGTCTTCTAAAATAAAAACTATGAAGAAGGAAATCTAAATGTAACCCTGAAGGGCTATAATTTAAGAGATGTGAATCATTTTATACACTAATTCTAACAACTGTCCCTGAAAACTTACCTATGAGGTAATTTCTGTATTATAAGTCCCATGTCATAGAAAAGTGTTCCAATGGAGAGAATCTAGGTAATAAATCATGCCTAAATCTTTAAAATTACATTTTGTCTATAATATATAAAGGTCAATGTTGAACAAAATAAATATATGACAGTAATTATAGTGAATATTTTGATATTTATGCCTTTTAATGACATGAAGAAAGATAACACAATGTTTTTAAAGTCTAACAATTCTTTCACCAGAATGTTTAATAGGAATAATTCATGGCTTTCTCTGACTAATCAGATCCTGCCTTTTTAATGAAAATTCTAAGCCTTGAAAAGAGAGCAAGCTGACATAAACTAAAAAGATGGAGAATGTGAATTTACAATGGTTAAAACTCAGCAATTCATGAGCAACTTGAGAAGTACATTTATTAGAGCTCATAAAATAGTAAGCAATAACAGGGAGTGTGTATACTGAAACAAACAGCCAAAGAGATTGAAAGAAATGTAGTCACAGGCTCTTCTGGCACAAATTCATTGCCTTTATTCTGATGAGCTTCTCTTCATGGGATTTACGGACACTGAATTATATCCAGACTCTGCTAACTTCTTGGTTTTCTCCCTCCTATCGCCTAATGACTCTTTAAGCTACTACATGAGTCTAATCCATGGGCATCCTGAGCTTCACAAATTCACGTCGCACCCAGCGAGAAACCCACCGTCTTCACTGAGTCATTCAAAGCTTCCCACTGCTGGAATGGCATCGACATCTGGCTCCTTCGCCAGTGGTCATAGCGGGCTGGACTCTCTTCATTGGTCAGAATCTCCTTTGCCTTCTGCAGTTTCTGAAAAGTCTCCACTGGAAAACAAATCAAGAAATGAGCACTTCTCTCTCGGAGAGGATATTTTAAACTCCAAAACTATCCAACTGCTCTTACTAAAACCATGACTGCCACTTAATAGCTATGTGACCTTGGGCCAATTTACCTCATTAAGCTTTTGTAAAGGGTATCATAAGGACAAGCAAGATCATGGATGTAAAGTGCTCGGCACAGTTTATCCACTCCCTGTATTGTGCCTCAGTCATGTGCCAGAGGCTACTCCCGGTGCTGATGACACAGATGTGAATAATAGACATTATTAGCAGGGGAAAGAAACATTTGTAAACATTGAAAAAATACTATTCCACCTTATAGGAAGAAAACTACCTTTTTTAGTGCTGGGTGTGAAACAGGGCAGTAATTAGGCAAGAGGGACAGTAAAACTGAAGACTATAAAGACTATAAAACTGAAGACTATAAAGACTATAAAGACATGACTGAGGCACAATACAGGGAGTGGATAAACTGTCCCAAGCACTTTACATCCATGATCTTGTTTGTCCTTATAAAGCAGGAAGGAGCACGGTGACTTAGAGGAAGTAGTAATTGCCAGTGTGGCTGGAGGACACAAGGCTAGGGAAAGAACGATGAGGGATGGGGCTGTAGAGTAGACAGACAATAGCTCAATCAACCAGGGCCTGAGATGTCATGTTAAGGATGCTGGCCTGCTTTTTGTCGTAAGAGAAACGGGAGGCTTTAAGTATAATAAATAACATGGTAGATGCTGGGACAAATGGTAGCTTGTCACTAATCTACTTGACCAGATGGTATATAATAGAAACCTTTTATGGCTCTGTTAGAAACACCTCCAAAGTCTCTTCTGCTCCTCAGTGAAGTAAAAACTTTCTGCAGAGCAGAATACAAGATTTATATACAGGCCGGGTGCAGTGGCTCAGGCCTGTAATCCCGGCACTTCGGGAGGACAAGGTGGGTGGATCACGAGGTCAGGAATTCAAGACCCAGCCTGGCCAAGATGGTGAAACCCCATCTCTGCTAAAAATACAAAAAAAAAAAAAAAAATAGCTGGGGGTGGTGGCAGGCGCCTGTATTCCCAGCTACTCGGGGGCTGAGGCAGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGGACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAAAAAAAAGTAGCCAGGCACGGTGGCCCAGGCCTGTAATCCCAGCTACTCAGGAGCCTGAGGCAGGAGAATCGTTGGAACCCGTGAGGCAGAGCTTACAGTGAGCCGAGTTTGCACCACTGCACTCCAGCCTGTCCGACAGAGCAAGACTCCATCTCAAAACAAACAAACAAAAATTCATATGTTGAATTCTTAACTCCCAAAATGATAGTATTAGGAGATGGGGCTTTTGAGATATGATTAGATCATGAGGGTGGAACCCTCACGAATGGAATCAGTGCCCTAATAAAAGAAACCCAGACAACTCGCTCACTCTGTTTCCCCCATGTGAAAACACAGCAAGAAGACAATTAGCTAGGCATGGCGGTGGGCGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGAAGAATCTCATGAATCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTAGATGACAGAGCGAGACTCCGTCTCCAAAAAATAAAAAATCAATATACAAATATCAGTGGTGTCTCTACACAGTAGCAATGAACAATCTGAAAATGAAATTAAGAAAATTCCATTTATAAGAGCATCAAGAGCCGGACCCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGTTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGT
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Task1_train_13944
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The following genetic variant occurs in ATOH7 (atonal bHLH transcription factor 7) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Foveal hypoplasia
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TCTCGGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAAGTCTGTAGATAAACTGTGAAGAGGCAGCTGTGTCTGAGGTTAGGCTTGGGAATCCAAAATAAAAGAGTTTTGGGAGTCATTGGTGTTTTTGTTGACTTGTGACAAGACAAATTCCAAATGCATGGATAACTTAGAGTCCTGCTTTTCCTAATTATGAGTAAGACATTCTCCCAAATGCATGCACCACTCTTCACCAAGTCACTCTTTACATGAAGGGCTTGGTTTATCCACGCAATGGTTAAGCAAATTAATGAAAGTAATTCAAACCAATACCATGTTTATTATTTTGCTCCCATTTTGATTGGTCTTGATGGTAGTGAAGCCCTTATTGTCCAACTTGTACTGATTAAAAGGAAATCACTTCCAAAGGCAATATTTTTAATTTCTGTGTTAGTTTTAGAAATATAGAAGTGTATTCCTGTATATGTGTATATATACATTACTGTATACATATAAGAATAACTACATATATTTGGGTACTTGTAAGGACTTAGTAGCAATCTGCTTAATGTGGATAATAAAATATTGAGGAACTGTGTATCTAGTTACTTAAAAGCTAAATATTTCACTTTAATCTTTTTAAAAATCAACAAAAAATATACAAGTTGACAGAGAAAATGTTTAAATTAATTACATGTACTCTCATCAGCTTTTTGAGGAACTACTACAAAGCGGCACATTCGTTTATTGGTCGGATTAGGTTTAAACACTCCACATCTTTGCTCAGGGAAGCATTCTATATCATCACCTCCAAAGAGTTCTTTAGCGCCATCAGGAAACTGGCAAGGTACTTGGCATGAAAAACAAATCCACGTTTTTATTTATATTTTATAAAATGTATATTTTAATAATGTGTACACAGTTTAAAAAAATACAGAGCACCGATACCCATGTACTGTACCCAGAAAAAAAAAGTGTTTCTACTTCATGCTTGCACACACAATGCACTAAAGCAAAAACGCATTTACACAACAGGAAGGTAGCTCTGTTGTGAGCAAACACAAGTAATGGATACTGTAACTTCACCCGAACAGGACAAACTCACAAAGTTTAAGAAAGTGATTATTTCTCTGAGGACTGGAACAGAATAGCTTAATCCTATTTTTCTTAAGATTGTTTTCCCTCAAAGTAGCCCAGAAAAGGGGAAAGGGGGCATTATTTTCACAGCAATCAACCCATTCACAAGATCCATTAATGAAATCTACAAAATACAAAGGAGGAGGGGAAAAGAAAGGCAATTAAATGATTGCGTCCATAGGTCTGATGATGCGAATAAAGGTAATCTGAGAATCGACTAATTTTCCTCGAGGATTGCATCCTTAGAATCCTGGGCCGCCGGAGGCTTCTGGGCTACTTGGGGCAGGGCCGAGGCTCGGAGCGGCTGCCGGACACCCACCCCCGCGGAGGCGCGCGCCCTAGGTGGCCATCTGGAAGGGCTCGGGCTGGAAGCCGAAGAGTCTCTGGCTGTACAGCTCGCTCTCGCCCGGCAGCTTCGCGCCCGGGAACGGGAGGTAGTGGTCGCGGCCGAAGTGCTCACAGTGGAGACCCACCCAGTCCCGCTCCGAGCCGAATCGCTCGGCCTCGGCCAGGATCCGGGTCAGAGCCATGATGTAGCTCAGGGCCATCTGCAGGGTCTCGTACTTGGACAGCTTTTTATCCTGGCCCCACTGGGGAACCACCCTGCGTAAGCGGTCGAAGGCAGTGTTGAGCCCCTGCATGCGGCGGCGCTCGCGCGCGTTGGCCGCCAGGCGCCTGCGCGCCGCGCTCTCCAGCCGCCCGGCCCCGGCGCACGTGCCCGCGCACTCGGTGCCGCCCGCGCACGGGGGTGCAACGCGCGCTCCCGCCGGCGGGCCGCTGGGCTTGCAGGACTTCATCCCCGGCCCCAAGCAGCGAGGCGCCGACCTCGCACGCCCGCCCGCTCAGGACCTGCGCGTGGGCTGGTCTCTCGAGCCGCTTCCCAACGTGCCTCTTCTGAGCAAATAAGTCATAAACAAAGCAACTCACGTGCAATCAAATAGTTTACAGTGGGGGAGTGCGGGACTCGGCCTTCTGTTCTACTGGATGACCAGGCTGATATCTCTTCACTTGCCCAAATTTAGGGGAAAATGAGATGCTCAAGAGAAAGTCATTTTCTCAACATGAAGTTGAAAAAGAGAAGGAAACCTTCTGCAGCAGAGTTTGGTGTGGCTGGTTCGAGGAAGGCCTTTCAAGTCCTCTGGGAAAGCCTGAGACTCCTTTGCAGGAAGATGAACTCTTTCCCGAAGCTCAGGGAAGGAGCGCTTTTAGCGCAGTAGCTGTCGGAGAGTGCAGAATGAATCTTGGAGGGAGGAGAATTTATAGCAAAGAGCTGAAGGAGGGAACAGGTGGTGGCAGGTGGGCGGGCGTCCCTCGGCTTCTATCTCAGCACCTTCCTACCCTGGGAACTGCGGGGAGGAGGGGGCGACGCACAGCAAAATCCTGACATTACAGCATTAGTCTGTTGAAGTTTCTCCAAAGCTATGTCCAACACTAACTAACACACCATCTGGAGTGGCCTGGCTGTCCCCAAAAGAATAACAAGGTGGGGGTTGGGGCAGAGCTTGGTCTATCTTTTCCCGTATCAGTGGGCAGCTTACGTATCAAAAACTTAACCGAGACTTGTAAATTATTAGACATCATCTGTGTGAAAATGTTGGTTTCGGCATTATGAGATACATCGGGACTGTAGTATAAGAGGATGTAGCTTTGTTGAGAAGTGTGACAATTTTGCATAACGCTAATCTAATATACTGACATTTTAATTTTAGTTATTAAGTAAGTTGGAACAAATTAGCAGGTTCCAATATTATTGCAGACCTGGAATTTTACTGTGCAAATAATTTGGCTGTTTTCTATGAAATAATGTATTATAACATATCAAAAGATATTAACGTGTATATAAAACTTTATATTATTCTAATTATATAATTGGGTTGCTTGAATTCAGATACTTAGGCAAATCAATTCAGTATTTATACTTCATTCCCCCTGACACAGGTTCATAAATATTTGTGGGAAATGCACTGAGATGATAACTAATCATTTAATCATTTAACATTTAAATCAAAGAAAACTAATCATAATGCACATTTTTGTGCAAAATGAGAACATCTAAGTAACTTCTGAGGTTTTAAAAAATAGTTCCCAAAGCACAATTTTTGAAAATAGTTTACATCTTTGAACATTTCAGTTGTGTCAACTGCCCGCAGGAATAATAACAAAGCATGATTTCTGCTATTGATAATGACGATCTAATTGATGCAGAAAAACCATTAATTTGATTCTCTCATCTCTGCTCATTTCTCACTCTTAAGAGGAATCAAGGAGCAAGAAAACTACCTCCAAATAGGTTCAATCCAGAATCCTTACTGGATTTTTTAGGAAGACCAAGTATGCTCTTTCTCCTTTTGAAATATGGATATGTCAGCATTATTCTCAAATATGTTTATTAAAATGTCAACAAACTGTCACAAACTAGTAGTCTTTTAACCGTGACTTGCTTTCCCCACCATTGCTCAGACTATAACCCCATTGTGACCGCCCTGACTCCAAGTCCTGTCTTCTCATAAATAGTTGATTAATCCCCCAGCTGAAGCAATGACAATGAAATGAAGTTGAATGACATGAAGACAATAGGAAGCAATTGAACATTAATGATCTCCAGCATGACAGATGTTGAACACAGACTTCTGCATGGAGCCACTCAGCTCTGTTACTTTGGGTCATAAC
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TCTCGGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAAGTCTGTAGATAAACTGTGAAGAGGCAGCTGTGTCTGAGGTTAGGCTTGGGAATCCAAAATAAAAGAGTTTTGGGAGTCATTGGTGTTTTTGTTGACTTGTGACAAGACAAATTCCAAATGCATGGATAACTTAGAGTCCTGCTTTTCCTAATTATGAGTAAGACATTCTCCCAAATGCATGCACCACTCTTCACCAAGTCACTCTTTACATGAAGGGCTTGGTTTATCCACGCAATGGTTAAGCAAATTAATGAAAGTAATTCAAACCAATACCATGTTTATTATTTTGCTCCCATTTTGATTGGTCTTGATGGTAGTGAAGCCCTTATTGTCCAACTTGTACTGATTAAAAGGAAATCACTTCCAAAGGCAATATTTTTAATTTCTGTGTTAGTTTTAGAAATATAGAAGTGTATTCCTGTATATGTGTATATATACATTACTGTATACATATAAGAATAACTACATATATTTGGGTACTTGTAAGGACTTAGTAGCAATCTGCTTAATGTGGATAATAAAATATTGAGGAACTGTGTATCTAGTTACTTAAAAGCTAAATATTTCACTTTAATCTTTTTAAAAATCAACAAAAAATATACAAGTTGACAGAGAAAATGTTTAAATTAATTACATGTACTCTCATCAGCTTTTTGAGGAACTACTACAAAGCGGCACATTCGTTTATTGGTCGGATTAGGTTTAAACACTCCACATCTTTGCTCAGGGAAGCATTCTATATCATCACCTCCAAAGAGTTCTTTAGCGCCATCAGGAAACTGGCAAGGTACTTGGCATGAAAAACAAATCCACGTTTTTATTTATATTTTATAAAATGTATATTTTAATAATGTGTACACAGTTTAAAAAAATACAGAGCACCGATACCCATGTACTGTACCCAGAAAAAAAAAGTGTTTCTACTTCATGCTTGCACACACAATGCACTAAAGCAAAAACGCATTTACACAACAGGAAGGTAGCTCTGTTGTGAGCAAACACAAGTAATGGATACTGTAACTTCACCCGAACAGGACAAACTCACAAAGTTTAAGAAAGTGATTATTTCTCTGAGGACTGGAACAGAATAGCTTAATCCTATTTTTCTTAAGATTGTTTTCCCTCAAAGTAGCCCAGAAAAGGGGAAAGGGGGCATTATTTTCACAGCAATCAACCCATTCACAAGATCCATTAATGAAATCTACAAAATACAAAGGAGGAGGGGAAAAGAAAGGCAATTAAATGATTGCGTCCATAGGTCTGATGATGCGAATAAAGGTAATCTGAGAATCGACTAATTTTCCTCGAGGATTGCATCCTTAGAATCCTGGGCCGCCGGAGGCTTCTGGGCTACTTGGGGCAGGGCCGAGGCTCGGAGCGGCTGCCGGACACCCACCCCCGCGGAGGCGCGCGCCCTAGGTGGCCATCTGGAAGGGCTCGGGCTGGAAGCCGAAGAGTCTCTGGCTGTACAGCTCGCTCTCGCCCGGCAGCTTCGCGCCCGGGAACGGGAGGTAGTGGTCGCGGCCGAAGTGCTCACAGTGGAGACCCACCCAGTCCCGCTCCGAGCCGAATCGCTCGGCCTCGGCCAGGATCCGGGTCAGAGCCATGATGTAGCTCAGGGCCATCTGCAGGGTCTCGTACTTGGACAGCTTTTTATCCTGGCCCCACTGGGGAACCACCCTGCGTAAGCGGTCGAAGGTAGTGTTGAGCCCCTGCATGCGGCGGCGCTCGCGCGCGTTGGCCGCCAGGCGCCTGCGCGCCGCGCTCTCCAGCCGCCCGGCCCCGGCGCACGTGCCCGCGCACTCGGTGCCGCCCGCGCACGGGGGTGCAACGCGCGCTCCCGCCGGCGGGCCGCTGGGCTTGCAGGACTTCATCCCCGGCCCCAAGCAGCGAGGCGCCGACCTCGCACGCCCGCCCGCTCAGGACCTGCGCGTGGGCTGGTCTCTCGAGCCGCTTCCCAACGTGCCTCTTCTGAGCAAATAAGTCATAAACAAAGCAACTCACGTGCAATCAAATAGTTTACAGTGGGGGAGTGCGGGACTCGGCCTTCTGTTCTACTGGATGACCAGGCTGATATCTCTTCACTTGCCCAAATTTAGGGGAAAATGAGATGCTCAAGAGAAAGTCATTTTCTCAACATGAAGTTGAAAAAGAGAAGGAAACCTTCTGCAGCAGAGTTTGGTGTGGCTGGTTCGAGGAAGGCCTTTCAAGTCCTCTGGGAAAGCCTGAGACTCCTTTGCAGGAAGATGAACTCTTTCCCGAAGCTCAGGGAAGGAGCGCTTTTAGCGCAGTAGCTGTCGGAGAGTGCAGAATGAATCTTGGAGGGAGGAGAATTTATAGCAAAGAGCTGAAGGAGGGAACAGGTGGTGGCAGGTGGGCGGGCGTCCCTCGGCTTCTATCTCAGCACCTTCCTACCCTGGGAACTGCGGGGAGGAGGGGGCGACGCACAGCAAAATCCTGACATTACAGCATTAGTCTGTTGAAGTTTCTCCAAAGCTATGTCCAACACTAACTAACACACCATCTGGAGTGGCCTGGCTGTCCCCAAAAGAATAACAAGGTGGGGGTTGGGGCAGAGCTTGGTCTATCTTTTCCCGTATCAGTGGGCAGCTTACGTATCAAAAACTTAACCGAGACTTGTAAATTATTAGACATCATCTGTGTGAAAATGTTGGTTTCGGCATTATGAGATACATCGGGACTGTAGTATAAGAGGATGTAGCTTTGTTGAGAAGTGTGACAATTTTGCATAACGCTAATCTAATATACTGACATTTTAATTTTAGTTATTAAGTAAGTTGGAACAAATTAGCAGGTTCCAATATTATTGCAGACCTGGAATTTTACTGTGCAAATAATTTGGCTGTTTTCTATGAAATAATGTATTATAACATATCAAAAGATATTAACGTGTATATAAAACTTTATATTATTCTAATTATATAATTGGGTTGCTTGAATTCAGATACTTAGGCAAATCAATTCAGTATTTATACTTCATTCCCCCTGACACAGGTTCATAAATATTTGTGGGAAATGCACTGAGATGATAACTAATCATTTAATCATTTAACATTTAAATCAAAGAAAACTAATCATAATGCACATTTTTGTGCAAAATGAGAACATCTAAGTAACTTCTGAGGTTTTAAAAAATAGTTCCCAAAGCACAATTTTTGAAAATAGTTTACATCTTTGAACATTTCAGTTGTGTCAACTGCCCGCAGGAATAATAACAAAGCATGATTTCTGCTATTGATAATGACGATCTAATTGATGCAGAAAAACCATTAATTTGATTCTCTCATCTCTGCTCATTTCTCACTCTTAAGAGGAATCAAGGAGCAAGAAAACTACCTCCAAATAGGTTCAATCCAGAATCCTTACTGGATTTTTTAGGAAGACCAAGTATGCTCTTTCTCCTTTTGAAATATGGATATGTCAGCATTATTCTCAAATATGTTTATTAAAATGTCAACAAACTGTCACAAACTAGTAGTCTTTTAACCGTGACTTGCTTTCCCCACCATTGCTCAGACTATAACCCCATTGTGACCGCCCTGACTCCAAGTCCTGTCTTCTCATAAATAGTTGATTAATCCCCCAGCTGAAGCAATGACAATGAAATGAAGTTGAATGACATGAAGACAATAGGAAGCAATTGAACATTAATGATCTCCAGCATGACAGATGTTGAACACAGACTTCTGCATGGAGCCACTCAGCTCTGTTACTTTGGGTCATAAC
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Task1_train_13945
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Mutation context: Chromosome 10, Gene ATOH7 (atonal bHLH transcription factor 7). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Optic nerve hypoplasia
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TCTCGGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAAGTCTGTAGATAAACTGTGAAGAGGCAGCTGTGTCTGAGGTTAGGCTTGGGAATCCAAAATAAAAGAGTTTTGGGAGTCATTGGTGTTTTTGTTGACTTGTGACAAGACAAATTCCAAATGCATGGATAACTTAGAGTCCTGCTTTTCCTAATTATGAGTAAGACATTCTCCCAAATGCATGCACCACTCTTCACCAAGTCACTCTTTACATGAAGGGCTTGGTTTATCCACGCAATGGTTAAGCAAATTAATGAAAGTAATTCAAACCAATACCATGTTTATTATTTTGCTCCCATTTTGATTGGTCTTGATGGTAGTGAAGCCCTTATTGTCCAACTTGTACTGATTAAAAGGAAATCACTTCCAAAGGCAATATTTTTAATTTCTGTGTTAGTTTTAGAAATATAGAAGTGTATTCCTGTATATGTGTATATATACATTACTGTATACATATAAGAATAACTACATATATTTGGGTACTTGTAAGGACTTAGTAGCAATCTGCTTAATGTGGATAATAAAATATTGAGGAACTGTGTATCTAGTTACTTAAAAGCTAAATATTTCACTTTAATCTTTTTAAAAATCAACAAAAAATATACAAGTTGACAGAGAAAATGTTTAAATTAATTACATGTACTCTCATCAGCTTTTTGAGGAACTACTACAAAGCGGCACATTCGTTTATTGGTCGGATTAGGTTTAAACACTCCACATCTTTGCTCAGGGAAGCATTCTATATCATCACCTCCAAAGAGTTCTTTAGCGCCATCAGGAAACTGGCAAGGTACTTGGCATGAAAAACAAATCCACGTTTTTATTTATATTTTATAAAATGTATATTTTAATAATGTGTACACAGTTTAAAAAAATACAGAGCACCGATACCCATGTACTGTACCCAGAAAAAAAAAGTGTTTCTACTTCATGCTTGCACACACAATGCACTAAAGCAAAAACGCATTTACACAACAGGAAGGTAGCTCTGTTGTGAGCAAACACAAGTAATGGATACTGTAACTTCACCCGAACAGGACAAACTCACAAAGTTTAAGAAAGTGATTATTTCTCTGAGGACTGGAACAGAATAGCTTAATCCTATTTTTCTTAAGATTGTTTTCCCTCAAAGTAGCCCAGAAAAGGGGAAAGGGGGCATTATTTTCACAGCAATCAACCCATTCACAAGATCCATTAATGAAATCTACAAAATACAAAGGAGGAGGGGAAAAGAAAGGCAATTAAATGATTGCGTCCATAGGTCTGATGATGCGAATAAAGGTAATCTGAGAATCGACTAATTTTCCTCGAGGATTGCATCCTTAGAATCCTGGGCCGCCGGAGGCTTCTGGGCTACTTGGGGCAGGGCCGAGGCTCGGAGCGGCTGCCGGACACCCACCCCCGCGGAGGCGCGCGCCCTAGGTGGCCATCTGGAAGGGCTCGGGCTGGAAGCCGAAGAGTCTCTGGCTGTACAGCTCGCTCTCGCCCGGCAGCTTCGCGCCCGGGAACGGGAGGTAGTGGTCGCGGCCGAAGTGCTCACAGTGGAGACCCACCCAGTCCCGCTCCGAGCCGAATCGCTCGGCCTCGGCCAGGATCCGGGTCAGAGCCATGATGTAGCTCAGGGCCATCTGCAGGGTCTCGTACTTGGACAGCTTTTTATCCTGGCCCCACTGGGGAACCACCCTGCGTAAGCGGTCGAAGGCAGTGTTGAGCCCCTGCATGCGGCGGCGCTCGCGCGCGTTGGCCGCCAGGCGCCTGCGCGCCGCGCTCTCCAGCCGCCCGGCCCCGGCGCACGTGCCCGCGCACTCGGTGCCGCCCGCGCACGGGGGTGCAACGCGCGCTCCCGCCGGCGGGCCGCTGGGCTTGCAGGACTTCATCCCCGGCCCCAAGCAGCGAGGCGCCGACCTCGCACGCCCGCCCGCTCAGGACCTGCGCGTGGGCTGGTCTCTCGAGCCGCTTCCCAACGTGCCTCTTCTGAGCAAATAAGTCATAAACAAAGCAACTCACGTGCAATCAAATAGTTTACAGTGGGGGAGTGCGGGACTCGGCCTTCTGTTCTACTGGATGACCAGGCTGATATCTCTTCACTTGCCCAAATTTAGGGGAAAATGAGATGCTCAAGAGAAAGTCATTTTCTCAACATGAAGTTGAAAAAGAGAAGGAAACCTTCTGCAGCAGAGTTTGGTGTGGCTGGTTCGAGGAAGGCCTTTCAAGTCCTCTGGGAAAGCCTGAGACTCCTTTGCAGGAAGATGAACTCTTTCCCGAAGCTCAGGGAAGGAGCGCTTTTAGCGCAGTAGCTGTCGGAGAGTGCAGAATGAATCTTGGAGGGAGGAGAATTTATAGCAAAGAGCTGAAGGAGGGAACAGGTGGTGGCAGGTGGGCGGGCGTCCCTCGGCTTCTATCTCAGCACCTTCCTACCCTGGGAACTGCGGGGAGGAGGGGGCGACGCACAGCAAAATCCTGACATTACAGCATTAGTCTGTTGAAGTTTCTCCAAAGCTATGTCCAACACTAACTAACACACCATCTGGAGTGGCCTGGCTGTCCCCAAAAGAATAACAAGGTGGGGGTTGGGGCAGAGCTTGGTCTATCTTTTCCCGTATCAGTGGGCAGCTTACGTATCAAAAACTTAACCGAGACTTGTAAATTATTAGACATCATCTGTGTGAAAATGTTGGTTTCGGCATTATGAGATACATCGGGACTGTAGTATAAGAGGATGTAGCTTTGTTGAGAAGTGTGACAATTTTGCATAACGCTAATCTAATATACTGACATTTTAATTTTAGTTATTAAGTAAGTTGGAACAAATTAGCAGGTTCCAATATTATTGCAGACCTGGAATTTTACTGTGCAAATAATTTGGCTGTTTTCTATGAAATAATGTATTATAACATATCAAAAGATATTAACGTGTATATAAAACTTTATATTATTCTAATTATATAATTGGGTTGCTTGAATTCAGATACTTAGGCAAATCAATTCAGTATTTATACTTCATTCCCCCTGACACAGGTTCATAAATATTTGTGGGAAATGCACTGAGATGATAACTAATCATTTAATCATTTAACATTTAAATCAAAGAAAACTAATCATAATGCACATTTTTGTGCAAAATGAGAACATCTAAGTAACTTCTGAGGTTTTAAAAAATAGTTCCCAAAGCACAATTTTTGAAAATAGTTTACATCTTTGAACATTTCAGTTGTGTCAACTGCCCGCAGGAATAATAACAAAGCATGATTTCTGCTATTGATAATGACGATCTAATTGATGCAGAAAAACCATTAATTTGATTCTCTCATCTCTGCTCATTTCTCACTCTTAAGAGGAATCAAGGAGCAAGAAAACTACCTCCAAATAGGTTCAATCCAGAATCCTTACTGGATTTTTTAGGAAGACCAAGTATGCTCTTTCTCCTTTTGAAATATGGATATGTCAGCATTATTCTCAAATATGTTTATTAAAATGTCAACAAACTGTCACAAACTAGTAGTCTTTTAACCGTGACTTGCTTTCCCCACCATTGCTCAGACTATAACCCCATTGTGACCGCCCTGACTCCAAGTCCTGTCTTCTCATAAATAGTTGATTAATCCCCCAGCTGAAGCAATGACAATGAAATGAAGTTGAATGACATGAAGACAATAGGAAGCAATTGAACATTAATGATCTCCAGCATGACAGATGTTGAACACAGACTTCTGCATGGAGCCACTCAGCTCTGTTACTTTGGGTCATAAC
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TCTCGGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAAGTCTGTAGATAAACTGTGAAGAGGCAGCTGTGTCTGAGGTTAGGCTTGGGAATCCAAAATAAAAGAGTTTTGGGAGTCATTGGTGTTTTTGTTGACTTGTGACAAGACAAATTCCAAATGCATGGATAACTTAGAGTCCTGCTTTTCCTAATTATGAGTAAGACATTCTCCCAAATGCATGCACCACTCTTCACCAAGTCACTCTTTACATGAAGGGCTTGGTTTATCCACGCAATGGTTAAGCAAATTAATGAAAGTAATTCAAACCAATACCATGTTTATTATTTTGCTCCCATTTTGATTGGTCTTGATGGTAGTGAAGCCCTTATTGTCCAACTTGTACTGATTAAAAGGAAATCACTTCCAAAGGCAATATTTTTAATTTCTGTGTTAGTTTTAGAAATATAGAAGTGTATTCCTGTATATGTGTATATATACATTACTGTATACATATAAGAATAACTACATATATTTGGGTACTTGTAAGGACTTAGTAGCAATCTGCTTAATGTGGATAATAAAATATTGAGGAACTGTGTATCTAGTTACTTAAAAGCTAAATATTTCACTTTAATCTTTTTAAAAATCAACAAAAAATATACAAGTTGACAGAGAAAATGTTTAAATTAATTACATGTACTCTCATCAGCTTTTTGAGGAACTACTACAAAGCGGCACATTCGTTTATTGGTCGGATTAGGTTTAAACACTCCACATCTTTGCTCAGGGAAGCATTCTATATCATCACCTCCAAAGAGTTCTTTAGCGCCATCAGGAAACTGGCAAGGTACTTGGCATGAAAAACAAATCCACGTTTTTATTTATATTTTATAAAATGTATATTTTAATAATGTGTACACAGTTTAAAAAAATACAGAGCACCGATACCCATGTACTGTACCCAGAAAAAAAAAGTGTTTCTACTTCATGCTTGCACACACAATGCACTAAAGCAAAAACGCATTTACACAACAGGAAGGTAGCTCTGTTGTGAGCAAACACAAGTAATGGATACTGTAACTTCACCCGAACAGGACAAACTCACAAAGTTTAAGAAAGTGATTATTTCTCTGAGGACTGGAACAGAATAGCTTAATCCTATTTTTCTTAAGATTGTTTTCCCTCAAAGTAGCCCAGAAAAGGGGAAAGGGGGCATTATTTTCACAGCAATCAACCCATTCACAAGATCCATTAATGAAATCTACAAAATACAAAGGAGGAGGGGAAAAGAAAGGCAATTAAATGATTGCGTCCATAGGTCTGATGATGCGAATAAAGGTAATCTGAGAATCGACTAATTTTCCTCGAGGATTGCATCCTTAGAATCCTGGGCCGCCGGAGGCTTCTGGGCTACTTGGGGCAGGGCCGAGGCTCGGAGCGGCTGCCGGACACCCACCCCCGCGGAGGCGCGCGCCCTAGGTGGCCATCTGGAAGGGCTCGGGCTGGAAGCCGAAGAGTCTCTGGCTGTACAGCTCGCTCTCGCCCGGCAGCTTCGCGCCCGGGAACGGGAGGTAGTGGTCGCGGCCGAAGTGCTCACAGTGGAGACCCACCCAGTCCCGCTCCGAGCCGAATCGCTCGGCCTCGGCCAGGATCCGGGTCAGAGCCATGATGTAGCTCAGGGCCATCTGCAGGGTCTCGTACTTGGACAGCTTTTTATCCTGGCCCCACTGGGGAACCACCCTGCGTAAGCGGTCGAAGGTAGTGTTGAGCCCCTGCATGCGGCGGCGCTCGCGCGCGTTGGCCGCCAGGCGCCTGCGCGCCGCGCTCTCCAGCCGCCCGGCCCCGGCGCACGTGCCCGCGCACTCGGTGCCGCCCGCGCACGGGGGTGCAACGCGCGCTCCCGCCGGCGGGCCGCTGGGCTTGCAGGACTTCATCCCCGGCCCCAAGCAGCGAGGCGCCGACCTCGCACGCCCGCCCGCTCAGGACCTGCGCGTGGGCTGGTCTCTCGAGCCGCTTCCCAACGTGCCTCTTCTGAGCAAATAAGTCATAAACAAAGCAACTCACGTGCAATCAAATAGTTTACAGTGGGGGAGTGCGGGACTCGGCCTTCTGTTCTACTGGATGACCAGGCTGATATCTCTTCACTTGCCCAAATTTAGGGGAAAATGAGATGCTCAAGAGAAAGTCATTTTCTCAACATGAAGTTGAAAAAGAGAAGGAAACCTTCTGCAGCAGAGTTTGGTGTGGCTGGTTCGAGGAAGGCCTTTCAAGTCCTCTGGGAAAGCCTGAGACTCCTTTGCAGGAAGATGAACTCTTTCCCGAAGCTCAGGGAAGGAGCGCTTTTAGCGCAGTAGCTGTCGGAGAGTGCAGAATGAATCTTGGAGGGAGGAGAATTTATAGCAAAGAGCTGAAGGAGGGAACAGGTGGTGGCAGGTGGGCGGGCGTCCCTCGGCTTCTATCTCAGCACCTTCCTACCCTGGGAACTGCGGGGAGGAGGGGGCGACGCACAGCAAAATCCTGACATTACAGCATTAGTCTGTTGAAGTTTCTCCAAAGCTATGTCCAACACTAACTAACACACCATCTGGAGTGGCCTGGCTGTCCCCAAAAGAATAACAAGGTGGGGGTTGGGGCAGAGCTTGGTCTATCTTTTCCCGTATCAGTGGGCAGCTTACGTATCAAAAACTTAACCGAGACTTGTAAATTATTAGACATCATCTGTGTGAAAATGTTGGTTTCGGCATTATGAGATACATCGGGACTGTAGTATAAGAGGATGTAGCTTTGTTGAGAAGTGTGACAATTTTGCATAACGCTAATCTAATATACTGACATTTTAATTTTAGTTATTAAGTAAGTTGGAACAAATTAGCAGGTTCCAATATTATTGCAGACCTGGAATTTTACTGTGCAAATAATTTGGCTGTTTTCTATGAAATAATGTATTATAACATATCAAAAGATATTAACGTGTATATAAAACTTTATATTATTCTAATTATATAATTGGGTTGCTTGAATTCAGATACTTAGGCAAATCAATTCAGTATTTATACTTCATTCCCCCTGACACAGGTTCATAAATATTTGTGGGAAATGCACTGAGATGATAACTAATCATTTAATCATTTAACATTTAAATCAAAGAAAACTAATCATAATGCACATTTTTGTGCAAAATGAGAACATCTAAGTAACTTCTGAGGTTTTAAAAAATAGTTCCCAAAGCACAATTTTTGAAAATAGTTTACATCTTTGAACATTTCAGTTGTGTCAACTGCCCGCAGGAATAATAACAAAGCATGATTTCTGCTATTGATAATGACGATCTAATTGATGCAGAAAAACCATTAATTTGATTCTCTCATCTCTGCTCATTTCTCACTCTTAAGAGGAATCAAGGAGCAAGAAAACTACCTCCAAATAGGTTCAATCCAGAATCCTTACTGGATTTTTTAGGAAGACCAAGTATGCTCTTTCTCCTTTTGAAATATGGATATGTCAGCATTATTCTCAAATATGTTTATTAAAATGTCAACAAACTGTCACAAACTAGTAGTCTTTTAACCGTGACTTGCTTTCCCCACCATTGCTCAGACTATAACCCCATTGTGACCGCCCTGACTCCAAGTCCTGTCTTCTCATAAATAGTTGATTAATCCCCCAGCTGAAGCAATGACAATGAAATGAAGTTGAATGACATGAAGACAATAGGAAGCAATTGAACATTAATGATCTCCAGCATGACAGATGTTGAACACAGACTTCTGCATGGAGCCACTCAGCTCTGTTACTTTGGGTCATAAC
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Task1_train_13946
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This variant lies on Chromosome 10 and affects the gene ATOH7 (atonal bHLH transcription factor 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Persistent hyperplastic primary vitreous, autosomal recessive
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GGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAAGTCTGTAGATAAACTGTGAAGAGGCAGCTGTGTCTGAGGTTAGGCTTGGGAATCCAAAATAAAAGAGTTTTGGGAGTCATTGGTGTTTTTGTTGACTTGTGACAAGACAAATTCCAAATGCATGGATAACTTAGAGTCCTGCTTTTCCTAATTATGAGTAAGACATTCTCCCAAATGCATGCACCACTCTTCACCAAGTCACTCTTTACATGAAGGGCTTGGTTTATCCACGCAATGGTTAAGCAAATTAATGAAAGTAATTCAAACCAATACCATGTTTATTATTTTGCTCCCATTTTGATTGGTCTTGATGGTAGTGAAGCCCTTATTGTCCAACTTGTACTGATTAAAAGGAAATCACTTCCAAAGGCAATATTTTTAATTTCTGTGTTAGTTTTAGAAATATAGAAGTGTATTCCTGTATATGTGTATATATACATTACTGTATACATATAAGAATAACTACATATATTTGGGTACTTGTAAGGACTTAGTAGCAATCTGCTTAATGTGGATAATAAAATATTGAGGAACTGTGTATCTAGTTACTTAAAAGCTAAATATTTCACTTTAATCTTTTTAAAAATCAACAAAAAATATACAAGTTGACAGAGAAAATGTTTAAATTAATTACATGTACTCTCATCAGCTTTTTGAGGAACTACTACAAAGCGGCACATTCGTTTATTGGTCGGATTAGGTTTAAACACTCCACATCTTTGCTCAGGGAAGCATTCTATATCATCACCTCCAAAGAGTTCTTTAGCGCCATCAGGAAACTGGCAAGGTACTTGGCATGAAAAACAAATCCACGTTTTTATTTATATTTTATAAAATGTATATTTTAATAATGTGTACACAGTTTAAAAAAATACAGAGCACCGATACCCATGTACTGTACCCAGAAAAAAAAAGTGTTTCTACTTCATGCTTGCACACACAATGCACTAAAGCAAAAACGCATTTACACAACAGGAAGGTAGCTCTGTTGTGAGCAAACACAAGTAATGGATACTGTAACTTCACCCGAACAGGACAAACTCACAAAGTTTAAGAAAGTGATTATTTCTCTGAGGACTGGAACAGAATAGCTTAATCCTATTTTTCTTAAGATTGTTTTCCCTCAAAGTAGCCCAGAAAAGGGGAAAGGGGGCATTATTTTCACAGCAATCAACCCATTCACAAGATCCATTAATGAAATCTACAAAATACAAAGGAGGAGGGGAAAAGAAAGGCAATTAAATGATTGCGTCCATAGGTCTGATGATGCGAATAAAGGTAATCTGAGAATCGACTAATTTTCCTCGAGGATTGCATCCTTAGAATCCTGGGCCGCCGGAGGCTTCTGGGCTACTTGGGGCAGGGCCGAGGCTCGGAGCGGCTGCCGGACACCCACCCCCGCGGAGGCGCGCGCCCTAGGTGGCCATCTGGAAGGGCTCGGGCTGGAAGCCGAAGAGTCTCTGGCTGTACAGCTCGCTCTCGCCCGGCAGCTTCGCGCCCGGGAACGGGAGGTAGTGGTCGCGGCCGAAGTGCTCACAGTGGAGACCCACCCAGTCCCGCTCCGAGCCGAATCGCTCGGCCTCGGCCAGGATCCGGGTCAGAGCCATGATGTAGCTCAGGGCCATCTGCAGGGTCTCGTACTTGGACAGCTTTTTATCCTGGCCCCACTGGGGAACCACCCTGCGTAAGCGGTCGAAGGCAGTGTTGAGCCCCTGCATGCGGCGGCGCTCGCGCGCGTTGGCCGCCAGGCGCCTGCGCGCCGCGCTCTCCAGCCGCCCGGCCCCGGCGCACGTGCCCGCGCACTCGGTGCCGCCCGCGCACGGGGGTGCAACGCGCGCTCCCGCCGGCGGGCCGCTGGGCTTGCAGGACTTCATCCCCGGCCCCAAGCAGCGAGGCGCCGACCTCGCACGCCCGCCCGCTCAGGACCTGCGCGTGGGCTGGTCTCTCGAGCCGCTTCCCAACGTGCCTCTTCTGAGCAAATAAGTCATAAACAAAGCAACTCACGTGCAATCAAATAGTTTACAGTGGGGGAGTGCGGGACTCGGCCTTCTGTTCTACTGGATGACCAGGCTGATATCTCTTCACTTGCCCAAATTTAGGGGAAAATGAGATGCTCAAGAGAAAGTCATTTTCTCAACATGAAGTTGAAAAAGAGAAGGAAACCTTCTGCAGCAGAGTTTGGTGTGGCTGGTTCGAGGAAGGCCTTTCAAGTCCTCTGGGAAAGCCTGAGACTCCTTTGCAGGAAGATGAACTCTTTCCCGAAGCTCAGGGAAGGAGCGCTTTTAGCGCAGTAGCTGTCGGAGAGTGCAGAATGAATCTTGGAGGGAGGAGAATTTATAGCAAAGAGCTGAAGGAGGGAACAGGTGGTGGCAGGTGGGCGGGCGTCCCTCGGCTTCTATCTCAGCACCTTCCTACCCTGGGAACTGCGGGGAGGAGGGGGCGACGCACAGCAAAATCCTGACATTACAGCATTAGTCTGTTGAAGTTTCTCCAAAGCTATGTCCAACACTAACTAACACACCATCTGGAGTGGCCTGGCTGTCCCCAAAAGAATAACAAGGTGGGGGTTGGGGCAGAGCTTGGTCTATCTTTTCCCGTATCAGTGGGCAGCTTACGTATCAAAAACTTAACCGAGACTTGTAAATTATTAGACATCATCTGTGTGAAAATGTTGGTTTCGGCATTATGAGATACATCGGGACTGTAGTATAAGAGGATGTAGCTTTGTTGAGAAGTGTGACAATTTTGCATAACGCTAATCTAATATACTGACATTTTAATTTTAGTTATTAAGTAAGTTGGAACAAATTAGCAGGTTCCAATATTATTGCAGACCTGGAATTTTACTGTGCAAATAATTTGGCTGTTTTCTATGAAATAATGTATTATAACATATCAAAAGATATTAACGTGTATATAAAACTTTATATTATTCTAATTATATAATTGGGTTGCTTGAATTCAGATACTTAGGCAAATCAATTCAGTATTTATACTTCATTCCCCCTGACACAGGTTCATAAATATTTGTGGGAAATGCACTGAGATGATAACTAATCATTTAATCATTTAACATTTAAATCAAAGAAAACTAATCATAATGCACATTTTTGTGCAAAATGAGAACATCTAAGTAACTTCTGAGGTTTTAAAAAATAGTTCCCAAAGCACAATTTTTGAAAATAGTTTACATCTTTGAACATTTCAGTTGTGTCAACTGCCCGCAGGAATAATAACAAAGCATGATTTCTGCTATTGATAATGACGATCTAATTGATGCAGAAAAACCATTAATTTGATTCTCTCATCTCTGCTCATTTCTCACTCTTAAGAGGAATCAAGGAGCAAGAAAACTACCTCCAAATAGGTTCAATCCAGAATCCTTACTGGATTTTTTAGGAAGACCAAGTATGCTCTTTCTCCTTTTGAAATATGGATATGTCAGCATTATTCTCAAATATGTTTATTAAAATGTCAACAAACTGTCACAAACTAGTAGTCTTTTAACCGTGACTTGCTTTCCCCACCATTGCTCAGACTATAACCCCATTGTGACCGCCCTGACTCCAAGTCCTGTCTTCTCATAAATAGTTGATTAATCCCCCAGCTGAAGCAATGACAATGAAATGAAGTTGAATGACATGAAGACAATAGGAAGCAATTGAACATTAATGATCTCCAGCATGACAGATGTTGAACACAGACTTCTGCATGGAGCCACTCAGCTCTGTTACTTTGGGTCATAACAGTCTTGGTTGGGAACAGCAGTCCTGTGA
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GGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAAGTCTGTAGATAAACTGTGAAGAGGCAGCTGTGTCTGAGGTTAGGCTTGGGAATCCAAAATAAAAGAGTTTTGGGAGTCATTGGTGTTTTTGTTGACTTGTGACAAGACAAATTCCAAATGCATGGATAACTTAGAGTCCTGCTTTTCCTAATTATGAGTAAGACATTCTCCCAAATGCATGCACCACTCTTCACCAAGTCACTCTTTACATGAAGGGCTTGGTTTATCCACGCAATGGTTAAGCAAATTAATGAAAGTAATTCAAACCAATACCATGTTTATTATTTTGCTCCCATTTTGATTGGTCTTGATGGTAGTGAAGCCCTTATTGTCCAACTTGTACTGATTAAAAGGAAATCACTTCCAAAGGCAATATTTTTAATTTCTGTGTTAGTTTTAGAAATATAGAAGTGTATTCCTGTATATGTGTATATATACATTACTGTATACATATAAGAATAACTACATATATTTGGGTACTTGTAAGGACTTAGTAGCAATCTGCTTAATGTGGATAATAAAATATTGAGGAACTGTGTATCTAGTTACTTAAAAGCTAAATATTTCACTTTAATCTTTTTAAAAATCAACAAAAAATATACAAGTTGACAGAGAAAATGTTTAAATTAATTACATGTACTCTCATCAGCTTTTTGAGGAACTACTACAAAGCGGCACATTCGTTTATTGGTCGGATTAGGTTTAAACACTCCACATCTTTGCTCAGGGAAGCATTCTATATCATCACCTCCAAAGAGTTCTTTAGCGCCATCAGGAAACTGGCAAGGTACTTGGCATGAAAAACAAATCCACGTTTTTATTTATATTTTATAAAATGTATATTTTAATAATGTGTACACAGTTTAAAAAAATACAGAGCACCGATACCCATGTACTGTACCCAGAAAAAAAAAGTGTTTCTACTTCATGCTTGCACACACAATGCACTAAAGCAAAAACGCATTTACACAACAGGAAGGTAGCTCTGTTGTGAGCAAACACAAGTAATGGATACTGTAACTTCACCCGAACAGGACAAACTCACAAAGTTTAAGAAAGTGATTATTTCTCTGAGGACTGGAACAGAATAGCTTAATCCTATTTTTCTTAAGATTGTTTTCCCTCAAAGTAGCCCAGAAAAGGGGAAAGGGGGCATTATTTTCACAGCAATCAACCCATTCACAAGATCCATTAATGAAATCTACAAAATACAAAGGAGGAGGGGAAAAGAAAGGCAATTAAATGATTGCGTCCATAGGTCTGATGATGCGAATAAAGGTAATCTGAGAATCGACTAATTTTCCTCGAGGATTGCATCCTTAGAATCCTGGGCCGCCGGAGGCTTCTGGGCTACTTGGGGCAGGGCCGAGGCTCGGAGCGGCTGCCGGACACCCACCCCCGCGGAGGCGCGCGCCCTAGGTGGCCATCTGGAAGGGCTCGGGCTGGAAGCCGAAGAGTCTCTGGCTGTACAGCTCGCTCTCGCCCGGCAGCTTCGCGCCCGGGAACGGGAGGTAGTGGTCGCGGCCGAAGTGCTCACAGTGGAGACCCACCCAGTCCCGCTCCGAGCCGAATCGCTCGGCCTCGGCCAGGATCCGGGTCAGAGCCATGATGTAGCTCAGGGCCATCTGCAGGGTCTCGTACTTGGACAGCTTTTTATCCTGGCCCCACTGGGGAACCACCCTGCGTAAGCGGTCGAAGGCAGTGTTGAGCCCCTGCATGCGGCGGCGCACGCGCGCGTTGGCCGCCAGGCGCCTGCGCGCCGCGCTCTCCAGCCGCCCGGCCCCGGCGCACGTGCCCGCGCACTCGGTGCCGCCCGCGCACGGGGGTGCAACGCGCGCTCCCGCCGGCGGGCCGCTGGGCTTGCAGGACTTCATCCCCGGCCCCAAGCAGCGAGGCGCCGACCTCGCACGCCCGCCCGCTCAGGACCTGCGCGTGGGCTGGTCTCTCGAGCCGCTTCCCAACGTGCCTCTTCTGAGCAAATAAGTCATAAACAAAGCAACTCACGTGCAATCAAATAGTTTACAGTGGGGGAGTGCGGGACTCGGCCTTCTGTTCTACTGGATGACCAGGCTGATATCTCTTCACTTGCCCAAATTTAGGGGAAAATGAGATGCTCAAGAGAAAGTCATTTTCTCAACATGAAGTTGAAAAAGAGAAGGAAACCTTCTGCAGCAGAGTTTGGTGTGGCTGGTTCGAGGAAGGCCTTTCAAGTCCTCTGGGAAAGCCTGAGACTCCTTTGCAGGAAGATGAACTCTTTCCCGAAGCTCAGGGAAGGAGCGCTTTTAGCGCAGTAGCTGTCGGAGAGTGCAGAATGAATCTTGGAGGGAGGAGAATTTATAGCAAAGAGCTGAAGGAGGGAACAGGTGGTGGCAGGTGGGCGGGCGTCCCTCGGCTTCTATCTCAGCACCTTCCTACCCTGGGAACTGCGGGGAGGAGGGGGCGACGCACAGCAAAATCCTGACATTACAGCATTAGTCTGTTGAAGTTTCTCCAAAGCTATGTCCAACACTAACTAACACACCATCTGGAGTGGCCTGGCTGTCCCCAAAAGAATAACAAGGTGGGGGTTGGGGCAGAGCTTGGTCTATCTTTTCCCGTATCAGTGGGCAGCTTACGTATCAAAAACTTAACCGAGACTTGTAAATTATTAGACATCATCTGTGTGAAAATGTTGGTTTCGGCATTATGAGATACATCGGGACTGTAGTATAAGAGGATGTAGCTTTGTTGAGAAGTGTGACAATTTTGCATAACGCTAATCTAATATACTGACATTTTAATTTTAGTTATTAAGTAAGTTGGAACAAATTAGCAGGTTCCAATATTATTGCAGACCTGGAATTTTACTGTGCAAATAATTTGGCTGTTTTCTATGAAATAATGTATTATAACATATCAAAAGATATTAACGTGTATATAAAACTTTATATTATTCTAATTATATAATTGGGTTGCTTGAATTCAGATACTTAGGCAAATCAATTCAGTATTTATACTTCATTCCCCCTGACACAGGTTCATAAATATTTGTGGGAAATGCACTGAGATGATAACTAATCATTTAATCATTTAACATTTAAATCAAAGAAAACTAATCATAATGCACATTTTTGTGCAAAATGAGAACATCTAAGTAACTTCTGAGGTTTTAAAAAATAGTTCCCAAAGCACAATTTTTGAAAATAGTTTACATCTTTGAACATTTCAGTTGTGTCAACTGCCCGCAGGAATAATAACAAAGCATGATTTCTGCTATTGATAATGACGATCTAATTGATGCAGAAAAACCATTAATTTGATTCTCTCATCTCTGCTCATTTCTCACTCTTAAGAGGAATCAAGGAGCAAGAAAACTACCTCCAAATAGGTTCAATCCAGAATCCTTACTGGATTTTTTAGGAAGACCAAGTATGCTCTTTCTCCTTTTGAAATATGGATATGTCAGCATTATTCTCAAATATGTTTATTAAAATGTCAACAAACTGTCACAAACTAGTAGTCTTTTAACCGTGACTTGCTTTCCCCACCATTGCTCAGACTATAACCCCATTGTGACCGCCCTGACTCCAAGTCCTGTCTTCTCATAAATAGTTGATTAATCCCCCAGCTGAAGCAATGACAATGAAATGAAGTTGAATGACATGAAGACAATAGGAAGCAATTGAACATTAATGATCTCCAGCATGACAGATGTTGAACACAGACTTCTGCATGGAGCCACTCAGCTCTGTTACTTTGGGTCATAACAGTCTTGGTTGGGAACAGCAGTCCTGTGA
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Task1_train_13947
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A variant was discovered in gene ATOH7 (atonal bHLH transcription factor 7), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Persistent hyperplastic primary vitreous, autosomal recessive
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ATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAAGTCTGTAGATAAACTGTGAAGAGGCAGCTGTGTCTGAGGTTAGGCTTGGGAATCCAAAATAAAAGAGTTTTGGGAGTCATTGGTGTTTTTGTTGACTTGTGACAAGACAAATTCCAAATGCATGGATAACTTAGAGTCCTGCTTTTCCTAATTATGAGTAAGACATTCTCCCAAATGCATGCACCACTCTTCACCAAGTCACTCTTTACATGAAGGGCTTGGTTTATCCACGCAATGGTTAAGCAAATTAATGAAAGTAATTCAAACCAATACCATGTTTATTATTTTGCTCCCATTTTGATTGGTCTTGATGGTAGTGAAGCCCTTATTGTCCAACTTGTACTGATTAAAAGGAAATCACTTCCAAAGGCAATATTTTTAATTTCTGTGTTAGTTTTAGAAATATAGAAGTGTATTCCTGTATATGTGTATATATACATTACTGTATACATATAAGAATAACTACATATATTTGGGTACTTGTAAGGACTTAGTAGCAATCTGCTTAATGTGGATAATAAAATATTGAGGAACTGTGTATCTAGTTACTTAAAAGCTAAATATTTCACTTTAATCTTTTTAAAAATCAACAAAAAATATACAAGTTGACAGAGAAAATGTTTAAATTAATTACATGTACTCTCATCAGCTTTTTGAGGAACTACTACAAAGCGGCACATTCGTTTATTGGTCGGATTAGGTTTAAACACTCCACATCTTTGCTCAGGGAAGCATTCTATATCATCACCTCCAAAGAGTTCTTTAGCGCCATCAGGAAACTGGCAAGGTACTTGGCATGAAAAACAAATCCACGTTTTTATTTATATTTTATAAAATGTATATTTTAATAATGTGTACACAGTTTAAAAAAATACAGAGCACCGATACCCATGTACTGTACCCAGAAAAAAAAAGTGTTTCTACTTCATGCTTGCACACACAATGCACTAAAGCAAAAACGCATTTACACAACAGGAAGGTAGCTCTGTTGTGAGCAAACACAAGTAATGGATACTGTAACTTCACCCGAACAGGACAAACTCACAAAGTTTAAGAAAGTGATTATTTCTCTGAGGACTGGAACAGAATAGCTTAATCCTATTTTTCTTAAGATTGTTTTCCCTCAAAGTAGCCCAGAAAAGGGGAAAGGGGGCATTATTTTCACAGCAATCAACCCATTCACAAGATCCATTAATGAAATCTACAAAATACAAAGGAGGAGGGGAAAAGAAAGGCAATTAAATGATTGCGTCCATAGGTCTGATGATGCGAATAAAGGTAATCTGAGAATCGACTAATTTTCCTCGAGGATTGCATCCTTAGAATCCTGGGCCGCCGGAGGCTTCTGGGCTACTTGGGGCAGGGCCGAGGCTCGGAGCGGCTGCCGGACACCCACCCCCGCGGAGGCGCGCGCCCTAGGTGGCCATCTGGAAGGGCTCGGGCTGGAAGCCGAAGAGTCTCTGGCTGTACAGCTCGCTCTCGCCCGGCAGCTTCGCGCCCGGGAACGGGAGGTAGTGGTCGCGGCCGAAGTGCTCACAGTGGAGACCCACCCAGTCCCGCTCCGAGCCGAATCGCTCGGCCTCGGCCAGGATCCGGGTCAGAGCCATGATGTAGCTCAGGGCCATCTGCAGGGTCTCGTACTTGGACAGCTTTTTATCCTGGCCCCACTGGGGAACCACCCTGCGTAAGCGGTCGAAGGCAGTGTTGAGCCCCTGCATGCGGCGGCGCTCGCGCGCGTTGGCCGCCAGGCGCCTGCGCGCCGCGCTCTCCAGCCGCCCGGCCCCGGCGCACGTGCCCGCGCACTCGGTGCCGCCCGCGCACGGGGGTGCAACGCGCGCTCCCGCCGGCGGGCCGCTGGGCTTGCAGGACTTCATCCCCGGCCCCAAGCAGCGAGGCGCCGACCTCGCACGCCCGCCCGCTCAGGACCTGCGCGTGGGCTGGTCTCTCGAGCCGCTTCCCAACGTGCCTCTTCTGAGCAAATAAGTCATAAACAAAGCAACTCACGTGCAATCAAATAGTTTACAGTGGGGGAGTGCGGGACTCGGCCTTCTGTTCTACTGGATGACCAGGCTGATATCTCTTCACTTGCCCAAATTTAGGGGAAAATGAGATGCTCAAGAGAAAGTCATTTTCTCAACATGAAGTTGAAAAAGAGAAGGAAACCTTCTGCAGCAGAGTTTGGTGTGGCTGGTTCGAGGAAGGCCTTTCAAGTCCTCTGGGAAAGCCTGAGACTCCTTTGCAGGAAGATGAACTCTTTCCCGAAGCTCAGGGAAGGAGCGCTTTTAGCGCAGTAGCTGTCGGAGAGTGCAGAATGAATCTTGGAGGGAGGAGAATTTATAGCAAAGAGCTGAAGGAGGGAACAGGTGGTGGCAGGTGGGCGGGCGTCCCTCGGCTTCTATCTCAGCACCTTCCTACCCTGGGAACTGCGGGGAGGAGGGGGCGACGCACAGCAAAATCCTGACATTACAGCATTAGTCTGTTGAAGTTTCTCCAAAGCTATGTCCAACACTAACTAACACACCATCTGGAGTGGCCTGGCTGTCCCCAAAAGAATAACAAGGTGGGGGTTGGGGCAGAGCTTGGTCTATCTTTTCCCGTATCAGTGGGCAGCTTACGTATCAAAAACTTAACCGAGACTTGTAAATTATTAGACATCATCTGTGTGAAAATGTTGGTTTCGGCATTATGAGATACATCGGGACTGTAGTATAAGAGGATGTAGCTTTGTTGAGAAGTGTGACAATTTTGCATAACGCTAATCTAATATACTGACATTTTAATTTTAGTTATTAAGTAAGTTGGAACAAATTAGCAGGTTCCAATATTATTGCAGACCTGGAATTTTACTGTGCAAATAATTTGGCTGTTTTCTATGAAATAATGTATTATAACATATCAAAAGATATTAACGTGTATATAAAACTTTATATTATTCTAATTATATAATTGGGTTGCTTGAATTCAGATACTTAGGCAAATCAATTCAGTATTTATACTTCATTCCCCCTGACACAGGTTCATAAATATTTGTGGGAAATGCACTGAGATGATAACTAATCATTTAATCATTTAACATTTAAATCAAAGAAAACTAATCATAATGCACATTTTTGTGCAAAATGAGAACATCTAAGTAACTTCTGAGGTTTTAAAAAATAGTTCCCAAAGCACAATTTTTGAAAATAGTTTACATCTTTGAACATTTCAGTTGTGTCAACTGCCCGCAGGAATAATAACAAAGCATGATTTCTGCTATTGATAATGACGATCTAATTGATGCAGAAAAACCATTAATTTGATTCTCTCATCTCTGCTCATTTCTCACTCTTAAGAGGAATCAAGGAGCAAGAAAACTACCTCCAAATAGGTTCAATCCAGAATCCTTACTGGATTTTTTAGGAAGACCAAGTATGCTCTTTCTCCTTTTGAAATATGGATATGTCAGCATTATTCTCAAATATGTTTATTAAAATGTCAACAAACTGTCACAAACTAGTAGTCTTTTAACCGTGACTTGCTTTCCCCACCATTGCTCAGACTATAACCCCATTGTGACCGCCCTGACTCCAAGTCCTGTCTTCTCATAAATAGTTGATTAATCCCCCAGCTGAAGCAATGACAATGAAATGAAGTTGAATGACATGAAGACAATAGGAAGCAATTGAACATTAATGATCTCCAGCATGACAGATGTTGAACACAGACTTCTGCATGGAGCCACTCAGCTCTGTTACTTTGGGTCATAACAGTCTTGGTTGGGAACAGCAGTCCTGTGACAGAAAAGAC
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ATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAAGTCTGTAGATAAACTGTGAAGAGGCAGCTGTGTCTGAGGTTAGGCTTGGGAATCCAAAATAAAAGAGTTTTGGGAGTCATTGGTGTTTTTGTTGACTTGTGACAAGACAAATTCCAAATGCATGGATAACTTAGAGTCCTGCTTTTCCTAATTATGAGTAAGACATTCTCCCAAATGCATGCACCACTCTTCACCAAGTCACTCTTTACATGAAGGGCTTGGTTTATCCACGCAATGGTTAAGCAAATTAATGAAAGTAATTCAAACCAATACCATGTTTATTATTTTGCTCCCATTTTGATTGGTCTTGATGGTAGTGAAGCCCTTATTGTCCAACTTGTACTGATTAAAAGGAAATCACTTCCAAAGGCAATATTTTTAATTTCTGTGTTAGTTTTAGAAATATAGAAGTGTATTCCTGTATATGTGTATATATACATTACTGTATACATATAAGAATAACTACATATATTTGGGTACTTGTAAGGACTTAGTAGCAATCTGCTTAATGTGGATAATAAAATATTGAGGAACTGTGTATCTAGTTACTTAAAAGCTAAATATTTCACTTTAATCTTTTTAAAAATCAACAAAAAATATACAAGTTGACAGAGAAAATGTTTAAATTAATTACATGTACTCTCATCAGCTTTTTGAGGAACTACTACAAAGCGGCACATTCGTTTATTGGTCGGATTAGGTTTAAACACTCCACATCTTTGCTCAGGGAAGCATTCTATATCATCACCTCCAAAGAGTTCTTTAGCGCCATCAGGAAACTGGCAAGGTACTTGGCATGAAAAACAAATCCACGTTTTTATTTATATTTTATAAAATGTATATTTTAATAATGTGTACACAGTTTAAAAAAATACAGAGCACCGATACCCATGTACTGTACCCAGAAAAAAAAAGTGTTTCTACTTCATGCTTGCACACACAATGCACTAAAGCAAAAACGCATTTACACAACAGGAAGGTAGCTCTGTTGTGAGCAAACACAAGTAATGGATACTGTAACTTCACCCGAACAGGACAAACTCACAAAGTTTAAGAAAGTGATTATTTCTCTGAGGACTGGAACAGAATAGCTTAATCCTATTTTTCTTAAGATTGTTTTCCCTCAAAGTAGCCCAGAAAAGGGGAAAGGGGGCATTATTTTCACAGCAATCAACCCATTCACAAGATCCATTAATGAAATCTACAAAATACAAAGGAGGAGGGGAAAAGAAAGGCAATTAAATGATTGCGTCCATAGGTCTGATGATGCGAATAAAGGTAATCTGAGAATCGACTAATTTTCCTCGAGGATTGCATCCTTAGAATCCTGGGCCGCCGGAGGCTTCTGGGCTACTTGGGGCAGGGCCGAGGCTCGGAGCGGCTGCCGGACACCCACCCCCGCGGAGGCGCGCGCCCTAGGTGGCCATCTGGAAGGGCTCGGGCTGGAAGCCGAAGAGTCTCTGGCTGTACAGCTCGCTCTCGCCCGGCAGCTTCGCGCCCGGGAACGGGAGGTAGTGGTCGCGGCCGAAGTGCTCACAGTGGAGACCCACCCAGTCCCGCTCCGAGCCGAATCGCTCGGCCTCGGCCAGGATCCGGGTCAGAGCCATGATGTAGCTCAGGGCCATCTGCAGGGTCTCGTACTTGGACAGCTTTTTATCCTGGCCCCACTGGGGAACCACCCTGCGTAAGCGGTCGAAGGCAGTGTTGAGCCCCTGCATGCGGCGGCGCTCGCGCGCGTGGGCCGCCAGGCGCCTGCGCGCCGCGCTCTCCAGCCGCCCGGCCCCGGCGCACGTGCCCGCGCACTCGGTGCCGCCCGCGCACGGGGGTGCAACGCGCGCTCCCGCCGGCGGGCCGCTGGGCTTGCAGGACTTCATCCCCGGCCCCAAGCAGCGAGGCGCCGACCTCGCACGCCCGCCCGCTCAGGACCTGCGCGTGGGCTGGTCTCTCGAGCCGCTTCCCAACGTGCCTCTTCTGAGCAAATAAGTCATAAACAAAGCAACTCACGTGCAATCAAATAGTTTACAGTGGGGGAGTGCGGGACTCGGCCTTCTGTTCTACTGGATGACCAGGCTGATATCTCTTCACTTGCCCAAATTTAGGGGAAAATGAGATGCTCAAGAGAAAGTCATTTTCTCAACATGAAGTTGAAAAAGAGAAGGAAACCTTCTGCAGCAGAGTTTGGTGTGGCTGGTTCGAGGAAGGCCTTTCAAGTCCTCTGGGAAAGCCTGAGACTCCTTTGCAGGAAGATGAACTCTTTCCCGAAGCTCAGGGAAGGAGCGCTTTTAGCGCAGTAGCTGTCGGAGAGTGCAGAATGAATCTTGGAGGGAGGAGAATTTATAGCAAAGAGCTGAAGGAGGGAACAGGTGGTGGCAGGTGGGCGGGCGTCCCTCGGCTTCTATCTCAGCACCTTCCTACCCTGGGAACTGCGGGGAGGAGGGGGCGACGCACAGCAAAATCCTGACATTACAGCATTAGTCTGTTGAAGTTTCTCCAAAGCTATGTCCAACACTAACTAACACACCATCTGGAGTGGCCTGGCTGTCCCCAAAAGAATAACAAGGTGGGGGTTGGGGCAGAGCTTGGTCTATCTTTTCCCGTATCAGTGGGCAGCTTACGTATCAAAAACTTAACCGAGACTTGTAAATTATTAGACATCATCTGTGTGAAAATGTTGGTTTCGGCATTATGAGATACATCGGGACTGTAGTATAAGAGGATGTAGCTTTGTTGAGAAGTGTGACAATTTTGCATAACGCTAATCTAATATACTGACATTTTAATTTTAGTTATTAAGTAAGTTGGAACAAATTAGCAGGTTCCAATATTATTGCAGACCTGGAATTTTACTGTGCAAATAATTTGGCTGTTTTCTATGAAATAATGTATTATAACATATCAAAAGATATTAACGTGTATATAAAACTTTATATTATTCTAATTATATAATTGGGTTGCTTGAATTCAGATACTTAGGCAAATCAATTCAGTATTTATACTTCATTCCCCCTGACACAGGTTCATAAATATTTGTGGGAAATGCACTGAGATGATAACTAATCATTTAATCATTTAACATTTAAATCAAAGAAAACTAATCATAATGCACATTTTTGTGCAAAATGAGAACATCTAAGTAACTTCTGAGGTTTTAAAAAATAGTTCCCAAAGCACAATTTTTGAAAATAGTTTACATCTTTGAACATTTCAGTTGTGTCAACTGCCCGCAGGAATAATAACAAAGCATGATTTCTGCTATTGATAATGACGATCTAATTGATGCAGAAAAACCATTAATTTGATTCTCTCATCTCTGCTCATTTCTCACTCTTAAGAGGAATCAAGGAGCAAGAAAACTACCTCCAAATAGGTTCAATCCAGAATCCTTACTGGATTTTTTAGGAAGACCAAGTATGCTCTTTCTCCTTTTGAAATATGGATATGTCAGCATTATTCTCAAATATGTTTATTAAAATGTCAACAAACTGTCACAAACTAGTAGTCTTTTAACCGTGACTTGCTTTCCCCACCATTGCTCAGACTATAACCCCATTGTGACCGCCCTGACTCCAAGTCCTGTCTTCTCATAAATAGTTGATTAATCCCCCAGCTGAAGCAATGACAATGAAATGAAGTTGAATGACATGAAGACAATAGGAAGCAATTGAACATTAATGATCTCCAGCATGACAGATGTTGAACACAGACTTCTGCATGGAGCCACTCAGCTCTGTTACTTTGGGTCATAACAGTCTTGGTTGGGAACAGCAGTCCTGTGACAGAAAAGAC
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Task1_train_13948
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Gene DNA2 (DNA replication helicase/nuclease 2) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; not provided
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TGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAATGGAAATCAGATAAAAACCCTCCAATGGCTTCCATTCTAATCAGAGCAGCAGCCAAGTCCTGACCAGGATGATAAGGCTCCAGGGGAACTACTGCTGCTCTTCTCCTACTGCACTTTGCTCTAGCCATCACACTAGTTCGCTGAGATACTGCACACACAGCTAGTATGTGTCAGCCACAGGGCTTTTGCCGTTTCCCCTACCTAGAACATTCCTCCTACAGACAGCTGTACGGTTCACTACTTCATTTCCTTTAAGCTTCTGCTCAAATGCTACCTTATGAGGAAGGCCTTCCATGAACATTCTATGGAATATCCCTGCCACCACTACCTACCTATTCTCCCTTTCTTCTTATCCTCCTCATTGTTCGGCACTGCATTAATCACAGTCTGGTCCCCTGCTGTTTACTTGTACAGTGGTATAGAAACTCCACAAAGTAGGCAGTTGTATGTTTTGTTTTGTTTTTTGCTACCATGATCCAAGCACCTAAAACATTACTTGGCATATATTAGACACCCAATAAATATTTGCTAAATGAATAACAGAAAAAAACATATTTCCCCTATAAAATTATAACAATGCCACTTTGAGAAAAAAAAAAAAAAAACTTGAAAATACACATAATGCCAAACAGCATTAAATGGCTAAACACAGTAAATATATAGCACATCCATATGACAGTCAACACATGACACAGACTATATGCTAGTAACACAGAAAAATACACATGAAAGAATCAAATGAGGCCAGGTACAGTGCCTCATGCCCGTAATCCCAGCAGGTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTTCATCTCTAATAAAAATGCAAAAACTAGCCAGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGATCACACCATTGCACTCCAGCCTGGGGGACATAATGAGACTCCGTCTCAAAAAAAAAAAGAATCAAATGATAAAAATTAGGACCCCCAGAATATTTATAAATTGATTACTTTATAAGAAAATACAGACCAGGCATAGTTGCTCACACCTGTAATCCCAGTACTTTGGTAGGCCAAGGTGTGTGGATCACCAGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTATGGTGGTGGGCGCCTGTAATCCCAGGTACTTGGGAGGCTGAGGCAGAATAATTGCTTGAACCCCGGGAGGCGGAGGTTGCAGTAAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTATCAAAAAAGAAAAAAAAAAAAAAGAAGAAGAAAGAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTTAGGAGTTCGAGGCCAGTCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCACCTACTTGGGAGGCTGAGATAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCCGGGAGCAGAGATCAGTGCCACTGTATTTCCAGCCTGTGCGACAGAGCAAAACTCCATCTCAAAAAAAAAGAAAGAAAAAGAAAATACATATCTACATATAGAAAATAAGCTATCATAATAATGAAAATAAAATTTTCTATTCACTGGGTTCTTTTTTGTCATGGAAAGATACTTAGGACCATAATTTATAAAATAAGCAAGCAAAATGGCTAATTGTAATTACTCAATCTTTAAAAACTTTGATTCAACACACAGAATGGCATCCTGGTCTAAAAATATGAAGACTATATATATAAACAAAATGTGTTTCTTACAGAGAGAGCTGCATCTGAGGGAAGTCAGTCGAAGTGTTTTTATGCATGAAATCTCCTGCCCATTTACAAAACGAAGGAAGATAGTCCTCTACTTCTTGTTTTATTTCATCTTGACTTAGATTTAAGCGGTACCTGCCAAAAATATAATAGTAAATAGACTTAGACTTAAGCGGTACCTGCCAAAAATATGATAGCGAATATGAAAGTATAAATATGAGAAAAGTAAACGAGGACAAAAAAATACATATAAGCAACCCAACTGTTCGTCAGCCAATAAATGGATAAACAAAATGTGGCATATTCCATACAATGCAGTATTATTCAGCTATAAAAAGGAAGGAAATTCTGACATATGTTACAACATTGAAGAACCTTCAGGACATTACGCTAAGTGAAATAGGCCAGTCACAAAAGGACTAATATTCATATGAGGTACCTACAGTAGTGAAAATCACAGAGATAGAAAGTAGAATGGGGGTTGTCAGAGGCTGGGAGGAGGAAAGAAGGGAGCGTTATTGTTTCAAGGGCACAAAGCTTCAGTTTGGGAAGATGCAAAGAGTTCTGGAGATAGATAGGGTGATGGCTGTACAACAAGGTGAATGTACTTTGCCTCTGAACTGTACCCTTAAAAATGGCTAACATGGGCAGAGCGCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGATGCGGAGGCAGGTGGATCACAAGGTCAGCAGTTCGAGACAAGCCTGGCCAACATGGTGAAACGCTGTCTCTACTAAAAACACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCCGCTCCTTGGGAGGCTGAGGCAGGAGAATTGCTGGAATCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCAGTGCACTCCAGCCTGGGCAAGAGAGCAAGACTCCATCACAAATACACACACACACACACACACACACACACACATACAAGTTAACATGGTAATTTTTTTTCTTCTTTTTCTTTTTCTCTTTTCTTTTTTTATTTTTTGAGACAGGGTCTCACGCTGTCACCCAGGCTGGAGTGTAGTAGCGCTATCTCGGCTCATTGCAACCTCTGCCTTATAGGCTCAAGTGATTCTCCCCACTCAGCCTTCAGAGTAGCTGGAATTACAGGCACACACCACCATGCTAAGGTAATTTTTCTGTATTTTCAGTAGAGATTGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGACCTAATACGGTAATTTTTTTTTTTTTTTGAGAGAGAGTTTCACTCTTGTTGCCCAGGCTGGCGCGATCTCTACTCACTGCAACGTTTGCCTCCCAGGTTCAAATGATGCTCCTGCCTCAGTCCCCTGAGTAGCTGGAACCATAGACATATGACACCACGCCCAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACCCCTGACCTCACGTGATCTGCCCGCCTCGGCCTCTGAAAGTGCTGGGATTACAGGGGTGAGCCATTGCACCTGGCCTAACACGGTAATTTTTATGTGCATTTAACCACAATTTTTAAAAAACATCCAAATAACGCCAAGCATGGTGGTGTGAAACTATAGTCCCAGCTACTCAGCAGGCTGAAGCGGAAGGATCGTTTCAGCCCAAAAGTTTGAGGTTACGTGACCTGTGATCTCACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTTTAAAAAAAAAAAAAAATCCAAATAACACTGAAACAGTGACATGACATCAAATTTCAGATAATTTGCTCTAATTCATACCATGGTCTAATTGGAAGAGTCCCAGTTACACCTTTGGGATTAAAAAAATGGAGATATTGCTCCTGAAACCAAGCAATGGAAAGTAGAAATGTAAAAGAGAAAAAAGGGTCATATGGACAGAAAGGCAGTATCAGCCTTACAACATGAAAGGACAGTATATAGGAATGTTAACTTCTTATGTGAGAAATCTACAGAAACAAAAAAAC
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TGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAATGGAAATCAGATAAAAACCCTCCAATGGCTTCCATTCTAATCAGAGCAGCAGCCAAGTCCTGACCAGGATGATAAGGCTCCAGGGGAACTACTGCTGCTCTTCTCCTACTGCACTTTGCTCTAGCCATCACACTAGTTCGCTGAGATACTGCACACACAGCTAGTATGTGTCAGCCACAGGGCTTTTGCCGTTTCCCCTACCTAGAACATTCCTCCTACAGACAGCTGTACGGTTCACTACTTCATTTCCTTTAAGCTTCTGCTCAAATGCTACCTTATGAGGAAGGCCTTCCATGAACATTCTATGGAATATCCCTGCCACCACTACCTACCTATTCTCCCTTTCTTCTTATCCTCCTCATTGTTCGGCACTGCATTAATCACAGTCTGGTCCCCTGCTGTTTACTTGTACAGTGGTATAGAAACTCCACAAAGTAGGCAGTTGTATGTTTTGTTTTGTTTTTTGCTACCATGATCCAAGCACCTAAAACATTACTTGGCATATATTAGACACCCAATAAATATTTGCTAAATGAATAACAGAAAAAAACATATTTCCCCTATAAAATTATAACAATGCCACTTTGAGAAAAAAAAAAAAAAAACTTGAAAATACACATAATGCCAAACAGCATTAAATGGCTAAACACAGTAAATATATAGCACATCCATATGACAGTCAACACATGACACAGACTATATGCTAGTAACACAGAAAAATACACATGAAAGAATCAAATGAGGCCAGGTACAGTGCCTCATGCCCGTAATCCCAGCAGGTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTTCATCTCTAATAAAAATGCAAAAACTAGCCAGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGATCACACCATTGCACTCCAGCCTGGGGGACATAATGAGACTCCGTCTCAAAAAAAAAAAGAATCAAATGATAAAAATTAGGACCCCCAGAATATTTATAAATTGATTACTTTATAAGAAAATACAGACCAGGCATAGTTGCTCACACCTGTAATCCCAGTACTTTGGTAGGCCAAGGTGTGTGGATCACCAGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTATGGTGGTGGGCGCCTGTAATCCCAGGTACTTGGGAGGCTGAGGCAGAATAATTGCTTGAACCCCGGGAGGCGGAGGTTGCAGTAAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTATCAAAAAAGAAAAAAAAAAAAAAGAAGAAGAAAGAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTTAGGAGTTCGAGGCCAGTCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCACCTACTTGGGAGGCTGAGATAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCCGGGAGCAGAGATCAGTGCCACTGTATTTCCAGCCTGTGCGACAGAGCAAAACTCCATCTCAAAAAAAAAGAAAGAAAAAGAAAATACATATCTACATATAGAAAATAAGCTATCATAATAATGAAAATAAAATTTTCTATTCACTGGGTTCTTTTTTGTCATGGAAAGATACTTAGGACCATAATTTATAAAATAAGCAAGCAAAATGGCTAATTGTAATTACTCAATCTTTAAAAACTTTGATTCAACACACAGAATGGCATCCTGGTCTAAAAATATGAAGACTATATATATAAACAAAATGTGTTTCTTACAGAGAGAGCTGCATCTGAGGGAAGTCAGTCGAAGTGTTTTCATGCATGAAATCTCCTGCCCATTTACAAAACGAAGGAAGATAGTCCTCTACTTCTTGTTTTATTTCATCTTGACTTAGATTTAAGCGGTACCTGCCAAAAATATAATAGTAAATAGACTTAGACTTAAGCGGTACCTGCCAAAAATATGATAGCGAATATGAAAGTATAAATATGAGAAAAGTAAACGAGGACAAAAAAATACATATAAGCAACCCAACTGTTCGTCAGCCAATAAATGGATAAACAAAATGTGGCATATTCCATACAATGCAGTATTATTCAGCTATAAAAAGGAAGGAAATTCTGACATATGTTACAACATTGAAGAACCTTCAGGACATTACGCTAAGTGAAATAGGCCAGTCACAAAAGGACTAATATTCATATGAGGTACCTACAGTAGTGAAAATCACAGAGATAGAAAGTAGAATGGGGGTTGTCAGAGGCTGGGAGGAGGAAAGAAGGGAGCGTTATTGTTTCAAGGGCACAAAGCTTCAGTTTGGGAAGATGCAAAGAGTTCTGGAGATAGATAGGGTGATGGCTGTACAACAAGGTGAATGTACTTTGCCTCTGAACTGTACCCTTAAAAATGGCTAACATGGGCAGAGCGCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGATGCGGAGGCAGGTGGATCACAAGGTCAGCAGTTCGAGACAAGCCTGGCCAACATGGTGAAACGCTGTCTCTACTAAAAACACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCCGCTCCTTGGGAGGCTGAGGCAGGAGAATTGCTGGAATCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCAGTGCACTCCAGCCTGGGCAAGAGAGCAAGACTCCATCACAAATACACACACACACACACACACACACACACACATACAAGTTAACATGGTAATTTTTTTTCTTCTTTTTCTTTTTCTCTTTTCTTTTTTTATTTTTTGAGACAGGGTCTCACGCTGTCACCCAGGCTGGAGTGTAGTAGCGCTATCTCGGCTCATTGCAACCTCTGCCTTATAGGCTCAAGTGATTCTCCCCACTCAGCCTTCAGAGTAGCTGGAATTACAGGCACACACCACCATGCTAAGGTAATTTTTCTGTATTTTCAGTAGAGATTGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGACCTAATACGGTAATTTTTTTTTTTTTTTGAGAGAGAGTTTCACTCTTGTTGCCCAGGCTGGCGCGATCTCTACTCACTGCAACGTTTGCCTCCCAGGTTCAAATGATGCTCCTGCCTCAGTCCCCTGAGTAGCTGGAACCATAGACATATGACACCACGCCCAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACCCCTGACCTCACGTGATCTGCCCGCCTCGGCCTCTGAAAGTGCTGGGATTACAGGGGTGAGCCATTGCACCTGGCCTAACACGGTAATTTTTATGTGCATTTAACCACAATTTTTAAAAAACATCCAAATAACGCCAAGCATGGTGGTGTGAAACTATAGTCCCAGCTACTCAGCAGGCTGAAGCGGAAGGATCGTTTCAGCCCAAAAGTTTGAGGTTACGTGACCTGTGATCTCACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTTTAAAAAAAAAAAAAAATCCAAATAACACTGAAACAGTGACATGACATCAAATTTCAGATAATTTGCTCTAATTCATACCATGGTCTAATTGGAAGAGTCCCAGTTACACCTTTGGGATTAAAAAAATGGAGATATTGCTCCTGAAACCAAGCAATGGAAAGTAGAAATGTAAAAGAGAAAAAAGGGTCATATGGACAGAAAGGCAGTATCAGCCTTACAACATGAAAGGACAGTATATAGGAATGTTAACTTCTTATGTGAGAAATCTACAGAAACAAAAAAAC
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Task1_train_13949
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A genetic alteration is present in HKDC1, LOC101928994 (hexokinase domain containing 1| uncharacterized LOC101928994) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Retinitis pigmentosa 92
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GAGAGCCCTTTGGGTAGGAAAGAATCAAGTTTGGTTCCCACATACAGCATCCCACCCTTCCCCAACCCCAATTACTTGGGTCACGTCCTTTGCATCCAGTTTTCTCGGCTTGTGTGTGGCTGTGCCAACCAATTAGTCATAAACAGCCTTGGGGGAACAGGAAGCCCTTAATGAAGCCTGACCTGGTTCCATCCTGTTTCTCAAATATGCTGAAAGCTCAATTGTCCTTTTTTGCTAATGGCTGTCTGATGATTTTCTGGTCTTTCTCTGGCCCCCGAGTCCCCGGAGCCATGGTACCATTTCAGTGTCTTGGGTCTGTTCGTTGTCACGAGACTGAGCTGGGTCCTGGCCTCTGAGGCCTGGCTGATGACCGGGCCCCTGTCCTAGCGCGAAGGTAATGTGAGCCCTGTGCATTTGGTATAATTTGTCTGTCGGGCTTATGCATCCCCGACAGAGCTGTGAGCCAAAGCCAGGCCATGGGGGTGAGTGATCTAGAGCCTATGTTACAGTCCCACGTAGCCACAGCTCTGCAGCCCTCTCACCTCACCTCTCACCTGGGGACAAGAACTTTGGCCTTACGTGGCTGCCTCAAAGGGATGCTGTGGCGATGAGAAGAGGTGACGTACGTGGACGCACTCTGTAGACAGTAGCACGTGTTCTTCACCCTGGATAAAATGCCCTTTCACCGGGAATGTGCCTGGGATGGAGCCTCCTGTCACCTGGAGGGTGGAGAGTGCTCAGTATAAAAACAGGGCTGGAAAGGACAGGGTGCATATGCCCCTGTCTCTCCTCCTGCCCCCATCAATAATCCATCCCAGTGAGCCCGGGCTCCAGACTGCCAGCACCAATTGATTAGTGTTAATTAGTGTGAGGGAGGAAGCTTTGCTGCCGTCCCTGATGTGACATATTACCAACAAGAGGACTGATTTTAGCCATAGTGATTTGTATAACTTCCCTCCTTTGGGTATGGTCCTCTGTCCCCGTTTCCTGGTTACATGAGTGACATCCACTCATTTTCAATAGCAATCTGAGCTGACTTTAAAAATTCAGCTTTGTCTTAACTAGAACAACTCAGTTAAACCAAAATGGACATTTATGGCTGGGTGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGTGTGGATCACTTGAGGTCTGGAGTTCAAGAACAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAATTAGTCGGGCCTGGTGGCACCTGCCTGTAATACTAGCTACTCAGAAGGCTGAGGCAGGAGGATGGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCGAGATCTCATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAGGAGGGAAATTTAAAGGGCTAGATTTAGGCATTGCTTTTGGAAATGAAATTTAGCTCTGAGCTTCCTAGCAGCCAGTAAACAAAGAGAAACCTGTCTAGCTATATCTGTGGTCATCATTGGATGAAAGAAAGCTTCCATGTTTAGAAATCTACGATTCAAGCTCTAGCTGGCCTTTTTTGGTGGAGAGGAATGGGACACTGGTGAGGGCCCTGAACTGGGAATCGGAAACCCTGAATCCTTCTTAGTTTCTGCCTCTCCCTTGTCTCATCAGAATAATGGGAGAATCATTTTCTCCTCAGATTCTGCCCTTCAGAGAAGTAACTCCACACCTTCTCAGCCCTCCGTTCCATTCTGCTTTCCTAACTCGCTTCCCTGTCCTCTGCCTGAGGAGGGGTCAGATAGGGAGGCTTTGGGAATCCACATCTCAATGCTGTCCCCAGAGTCAGGAATGCAGCTTGCTGAGGGATGTCGGGGGTTACAGCCTCGACTGGAGGGTGAGGGCCCCCAGCAGCACCCCTTGGTGGCCGGTGTCTGTTCCAGGTGGACAGGTTCCTGTATCACATGCGGCTCTCCGATGACACCCTTTTGGACATCATGAGGCGGTTCCGGGCTGAGATGGAGAAGGGCCTGGCAAAGGACACCAACCCCACGGCTGCAGTGAAGATGTTGCCCACCTTCGTCAGGGCCATTCCCGATGGTTCCGGTGAGTGCAGTTGTCCGCTGCCAGGGTCCCTGGCTCCTCTTGGCTGATGGGTGTCTAAAGTACCTAAGGTTTGCCCCTGTACCTTGGCTTCTCTCTCTAGCCCTCTCTCTGCTGTCCCACCCTCCCTGCCCCTCTCTGCTTCAGTCCTGCTGAATCCCTCTTGCAGTTCTGCAGTTCTGCAGCCCCAGGCACCGTGGCTTCTCTGCCCATCGTGGCCTCACACATTTGCTCCCTCTCCTCCTGGAGCATCTCCATGTTCTTCCCTGGTGAGTATCAACGTGGCTTTTCCGTCTCAGCGTAGTGGTCCCTGCCTCCATCTAGGAAGTATCCCTGTGCTGGGCTGGGTGCTTGTCAGGGCACTTGTCACTTTGCTGTGTCCCCACTCTGAGTCTCCACCAAATTAACCACTCACTCCGTGGGTCCAAGGTCTTACCACAGTGTTCCCAGCACCTAGTGTAGCACTGGGAATGAGTAATGGGAGCAAGAATGATGTAGTGGAAATCACATTCAATGATAATTCAACAAACCTGGGTCTGAGGCCCAGCTCTGTCACTCTCAGTGACCTGAGGCAAGTGTTTAGCCTCAGTTTGCCCAGCTGTAGAATGAGAAATGGCCTATGTATCTGTTTCCTATGGCTGCTGTGATGTATTACTACAATCACAGTGGCTGAAAACAATCGAATATATTCTCTGACAGTTCTGGTGGACGGAAGTTTGCAGTGGGTCTCACTGGGCCAAAATTCAGGTGTCGGCAGGGCTGCGTTCCTTCTGGAAGCTTGAGGGGAGAATCTGTTTCCTTAACTTTTCCAGTTTCGAGAGGCCACCTGCATCCTTGAGGCATGCCCCTTTCTGTTCTCAAAGCCAGCAGTGTAGCCTCTTCAGGTCCCTCTCTGACCTGACCTTCTGCCTCCTTTCAACATTTAAAGATCCTGTGATCACGTTAGTCATGCTTAGATAATCCAGGATAATCTCCCAACTTCAAGGTCAGCTGATGAGCAATTTTGATCCCATCTGCAACCTTAATTCCCCTTTGCCTTGCACCCTCAGATATTCACAGGATCTGGGGATTAGGATGTGAGCATCTTTGTTGGGGGTGGGGGACATTATTTTGCCTACAATGGCCTAGAAATCTGTAGATAGGATCTATGAGGTCCCATCCAACTCTTCCATTCTCAGCCTCTGAATGAAGCTGTAAGAGGGAAAAGGGCTGCTACTGGCCTGGAGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGGGGGCAGATCACTTGAGGTCAGATGCTCGAGACCAGCCTGGCCAACATGGTGAAACTCCACCTCTACTAAAAATACAACAATTAGCCAGGTGTGATGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGCAAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACGCCATCAAAAAAGAAAGAAAGAAAGGAAGAAGAAAGAAAGAAAGAAAGAGAGAGAAAGAAGAAAGAAAGGAAAGAAAGAAGAAAGAGAAAGAAAGAAAGAGAAAGAAGAAAGAAAGAAAGCAAAGAAAAAGAAAGAAAGAAAGAGAGAAAGCTGCCATTTACTGAGCAACCACTGTGGTCATGGGGTGCTGGGGACTCGCTGAGCCACATATTTCCTGTGACAACCCTGTGGTGTGGCTGTTCAGACAGAACCACCAAGGACCAAGGGGTTTCTCCCATGTCAGGGTCCCAGTGCCCAAACCGAGCTCGTGAAAGAGCACTGGGGCTCTCGCAGGAGCAGGGTCTGAGGTTTGGGAGCTCTCAGGGGGCTTTGATGGGATCAGTCGTGTTCTGGACCTCTCTGGAGCAATGCCTGGATCAAGGTAGCTTGGCTCTGCTGGTTGAGAGGCCCTGGGACACTGCACTGGGAAAGGCCCTGTGCCCTCACTTGTGGGTAGGTGCTTGGG
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GAGAGCCCTTTGGGTAGGAAAGAATCAAGTTTGGTTCCCACATACAGCATCCCACCCTTCCCCAACCCCAATTACTTGGGTCACGTCCTTTGCATCCAGTTTTCTCGGCTTGTGTGTGGCTGTGCCAACCAATTAGTCATAAACAGCCTTGGGGGAACAGGAAGCCCTTAATGAAGCCTGACCTGGTTCCATCCTGTTTCTCAAATATGCTGAAAGCTCAATTGTCCTTTTTTGCTAATGGCTGTCTGATGATTTTCTGGTCTTTCTCTGGCCCCCGAGTCCCCGGAGCCATGGTACCATTTCAGTGTCTTGGGTCTGTTCGTTGTCACGAGACTGAGCTGGGTCCTGGCCTCTGAGGCCTGGCTGATGACCGGGCCCCTGTCCTAGCGCGAAGGTAATGTGAGCCCTGTGCATTTGGTATAATTTGTCTGTCGGGCTTATGCATCCCCGACAGAGCTGTGAGCCAAAGCCAGGCCATGGGGGTGAGTGATCTAGAGCCTATGTTACAGTCCCACGTAGCCACAGCTCTGCAGCCCTCTCACCTCACCTCTCACCTGGGGACAAGAACTTTGGCCTTACGTGGCTGCCTCAAAGGGATGCTGTGGCGATGAGAAGAGGTGACGTACGTGGACGCACTCTGTAGACAGTAGCACGTGTTCTTCACCCTGGATAAAATGCCCTTTCACCGGGAATGTGCCTGGGATGGAGCCTCCTGTCACCTGGAGGGTGGAGAGTGCTCAGTATAAAAACAGGGCTGGAAAGGACAGGGTGCATATGCCCCTGTCTCTCCTCCTGCCCCCATCAATAATCCATCCCAGTGAGCCCGGGCTCCAGACTGCCAGCACCAATTGATTAGTGTTAATTAGTGTGAGGGAGGAAGCTTTGCTGCCGTCCCTGATGTGACATATTACCAACAAGAGGACTGATTTTAGCCATAGTGATTTGTATAACTTCCCTCCTTTGGGTATGGTCCTCTGTCCCCGTTTCCTGGTTACATGAGTGACATCCACTCATTTTCAATAGCAATCTGAGCTGACTTTAAAAATTCAGCTTTGTCTTAACTAGAACAACTCAGTTAAACCAAAATGGACATTTATGGCTGGGTGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGTGTGGATCACTTGAGGTCTGGAGTTCAAGAACAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAATTAGTCGGGCCTGGTGGCACCTGCCTGTAATACTAGCTACTCAGAAGGCTGAGGCAGGAGGATGGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCGAGATCTCATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAGGAGGGAAATTTAAAGGGCTAGATTTAGGCATTGCTTTTGGAAATGAAATTTAGCTCTGAGCTTCCTAGCAGCCAGTAAACAAAGAGAAACCTGTCTAGCTATATCTGTGGTCATCATTGGATGAAAGAAAGCTTCCATGTTTAGAAATCTACGATTCAAGCTCTAGCTGGCCTTTTTTGGTGGAGAGGAATGGGACACTGGTGAGGGCCCTGAACTGGGAATCGGAAACCCTGAATCCTTCTTAGTTTCTGCCTCTCCCTTGTCTCATCAGAATAATGGGAGAATCATTTTCTCCTCAGATTCTGCCCTTCAGAGAAGTAACTCCACACCTTCTCAGCCCTCCGTTCCATTCTGCTTTCCTAACTCGCTTCCCTGTCCTCTGCCTGAGGAGGGGTCAGATAGGGAGGCTTTGGGAATCCACATCTCAATGCTGTCCCCAGAGTCAGGAATGCAGCTTGCTGAGGGATGTCGGGGGTTACAGCCTCGACTGGAGGGTGAGGGCCCCCAGCAGCACCCCTTGGTGGCCGGTGTCTGTTCCAGGTGGACAGGTTCCTGTATCACATGCGGCTCTCCGATGACACCCTTTTGGACATCATGAGGCGGTTCCGGGCTGAGATGGAGAAGGGCCTGGCAAAGGACACCAACCCCATGGCTGCAGTGAAGATGTTGCCCACCTTCGTCAGGGCCATTCCCGATGGTTCCGGTGAGTGCAGTTGTCCGCTGCCAGGGTCCCTGGCTCCTCTTGGCTGATGGGTGTCTAAAGTACCTAAGGTTTGCCCCTGTACCTTGGCTTCTCTCTCTAGCCCTCTCTCTGCTGTCCCACCCTCCCTGCCCCTCTCTGCTTCAGTCCTGCTGAATCCCTCTTGCAGTTCTGCAGTTCTGCAGCCCCAGGCACCGTGGCTTCTCTGCCCATCGTGGCCTCACACATTTGCTCCCTCTCCTCCTGGAGCATCTCCATGTTCTTCCCTGGTGAGTATCAACGTGGCTTTTCCGTCTCAGCGTAGTGGTCCCTGCCTCCATCTAGGAAGTATCCCTGTGCTGGGCTGGGTGCTTGTCAGGGCACTTGTCACTTTGCTGTGTCCCCACTCTGAGTCTCCACCAAATTAACCACTCACTCCGTGGGTCCAAGGTCTTACCACAGTGTTCCCAGCACCTAGTGTAGCACTGGGAATGAGTAATGGGAGCAAGAATGATGTAGTGGAAATCACATTCAATGATAATTCAACAAACCTGGGTCTGAGGCCCAGCTCTGTCACTCTCAGTGACCTGAGGCAAGTGTTTAGCCTCAGTTTGCCCAGCTGTAGAATGAGAAATGGCCTATGTATCTGTTTCCTATGGCTGCTGTGATGTATTACTACAATCACAGTGGCTGAAAACAATCGAATATATTCTCTGACAGTTCTGGTGGACGGAAGTTTGCAGTGGGTCTCACTGGGCCAAAATTCAGGTGTCGGCAGGGCTGCGTTCCTTCTGGAAGCTTGAGGGGAGAATCTGTTTCCTTAACTTTTCCAGTTTCGAGAGGCCACCTGCATCCTTGAGGCATGCCCCTTTCTGTTCTCAAAGCCAGCAGTGTAGCCTCTTCAGGTCCCTCTCTGACCTGACCTTCTGCCTCCTTTCAACATTTAAAGATCCTGTGATCACGTTAGTCATGCTTAGATAATCCAGGATAATCTCCCAACTTCAAGGTCAGCTGATGAGCAATTTTGATCCCATCTGCAACCTTAATTCCCCTTTGCCTTGCACCCTCAGATATTCACAGGATCTGGGGATTAGGATGTGAGCATCTTTGTTGGGGGTGGGGGACATTATTTTGCCTACAATGGCCTAGAAATCTGTAGATAGGATCTATGAGGTCCCATCCAACTCTTCCATTCTCAGCCTCTGAATGAAGCTGTAAGAGGGAAAAGGGCTGCTACTGGCCTGGAGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGGGGGCAGATCACTTGAGGTCAGATGCTCGAGACCAGCCTGGCCAACATGGTGAAACTCCACCTCTACTAAAAATACAACAATTAGCCAGGTGTGATGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGCAAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACGCCATCAAAAAAGAAAGAAAGAAAGGAAGAAGAAAGAAAGAAAGAAAGAGAGAGAAAGAAGAAAGAAAGGAAAGAAAGAAGAAAGAGAAAGAAAGAAAGAGAAAGAAGAAAGAAAGAAAGCAAAGAAAAAGAAAGAAAGAAAGAGAGAAAGCTGCCATTTACTGAGCAACCACTGTGGTCATGGGGTGCTGGGGACTCGCTGAGCCACATATTTCCTGTGACAACCCTGTGGTGTGGCTGTTCAGACAGAACCACCAAGGACCAAGGGGTTTCTCCCATGTCAGGGTCCCAGTGCCCAAACCGAGCTCGTGAAAGAGCACTGGGGCTCTCGCAGGAGCAGGGTCTGAGGTTTGGGAGCTCTCAGGGGGCTTTGATGGGATCAGTCGTGTTCTGGACCTCTCTGGAGCAATGCCTGGATCAAGGTAGCTTGGCTCTGCTGGTTGAGAGGCCCTGGGACACTGCACTGGGAAAGGCCCTGTGCCCTCACTTGTGGGTAGGTGCTTGGG
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Task1_train_13950
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Assess the clinical impact of this variant on gene HK1 (hexokinase 1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Hemolytic anemia due to hexokinase deficiency
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GGGAGGTTGAGGCAGCAGTGAGCTGTGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAGGAAAAGAAAAAAGAGTTAAAGAGTGGAGAAAGAAAGGGTGGCCGGAGGTCCCCAATAAATGCTCAGTCCAGCTGTTGTGGAATGTCCCCCCTGCCCCCATAAGGTATTCCCGGCGTTTCCACAAGACTCTAAGGCGCTTGGTGCCAGACTCCGATGTGCGCTTCCTCCTCTCGGAGAGTGGCAGCGGCAAGGGGGCTGCCATGGTGACGGCGGTGGCCTACCGCTTGGCCGAGCAGCACCGGCAGATAGAGGAGACCCTGGCTCATTTCCACCTCACCAAGGACATGCTGCTGGAGGTGAAGAAGAGGATGCGGGCCGAGATGGAGCTGGGGCTGAGGAAGCAGACGCACAACAATGCCGTGGTTAAGATGCTGCCCTCCTTCGTCCGGAGAACTCCCGACGGGACCGGTGAGGGCCTGCTGGGGGCTGACATGCCTGTCCTGCTCCTGCCAGGAACTGAGCCGCAGTGGGGGAGGTTGGATTCGCCAGTGGATGCCTTCACACTGGTGATGCACGATTTTGCCAGAGCTAGAAACTCCCTCACATCTCTGTTTTCCATTTTTATTAACTGATTTGTCATGTGTGTGACTCAGGGCAGTTTAATTTTCCTGGTCAGACCTCCCAGGCAAGTGCTATCTCTAAAACCACAGCCCTGCTCAGAACAGTGCTCTTAGCTGGGCAAGGTGACACACGCCTGTCATCCAGCTACTTAAGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGTCTGGGCAACATAGCAAGACCCTGTCTCAAAAAAAATTAAATGAATAAAAAAGAAGTGTTCTTAAAAGCTGGGCAAATCCCACAGCACTGATTAGGTTTTCCCAAAGCCAAGGAAAGCCAGCAGAAGGATAAACACTCAGTGTACCCTTCTTAAATCTTGATAGAGTATGCATGAGGCATTCAGGGCCTGGGGAGTTTCGCATTCAGGCAAATTGTAGAACAAAATCCAACCCTTTATGCTAACCTTGGTAGTTTTCACTGGAGCTGATCATTATGGGGAATCTGAAGAGCTTTTCAGGTGGGTCCTTGGAGTAACGAATGTTTGTGACAGGAATGTGTCCTATGTGTAAGTTACCTAATACCACATTATAAGCCACCCTCACACTTAGTGGCTTAAAACAACCACGCTTTATTATTGTTCATGCATCTGTGGGTCAGTTGGACAGTTCTGCTCATCAGGGCCAGGATTGGCTGACCTCTGCCGGCCTCATTCCTGCATCTGCAGTCAGCTGTTGAGTCAGCTGGGAGGCAGATCTCAGACGCCCTTCCCCACATGTCCAGCAGTTGGCTGTCAGCTGGGGTGCAGGGGCCCCTGGCCCTGTGTCTCATCCTTCAGTGGGCCACCTGGCTGTTCAAGTGGTGGCAGCAAGGGCTGCGAGGGAGAGGGGAAGACTTCAAAGCCTCCTGGAAGCCCAGGCTGGGGATAGGTTCAGCTTTGCCTCTGCCACACTCTGTTGGCCTGAACAATCCTAGGGCTGGGCTAGATCCCAGGGGAGGAGAAATTGACTCCATGTTTCAGTGGGAGGAACTGCAGTCATGTTGCAAAGAAGGATTTTGCACATGCAGGGAAGGGAATGATGCAGCTGTTTTTGCAAATACCCCACACCTTGACATAAATTATTATTTTTTGTAGGAGATTTTCATTGTTGCAGCCCTGGTGAAGTCTGTGTATTGTGACAGGTGGTTTACTCACATGCTCTCCTCCCAGTGTGGCTCCAAGTCTGTGGTGGTCAGAGATGTGGTGCCCACTCTTCCTCTGAGTCTGTGCTGTGTCCTAAAGGGAGGAGTTGCAGCTTCTCCTCTATGTTTGCTATGGGGTTCTCCCCTTGAAAGTCTGGAGTCTTGGGGTTACTGGCTGCCAAGAGGCACTTAGCTGTTTTTGACATTCTTTACGCTTTTGACTGCAACAGAGAATGGTGACTTCTTGGCCCTGGATCTTGGAGGAACCAATTTCCGTGTGCTGCTGGTGAAAATCCGTAGTGGGAAAAAGAGAACGGTGGAAATGCACAACAAGATCTACGCCATTCCTATTGAAATCATGCAGGGCACTGGGGAAGAGGTGAGATTACAAAACCATAGTGCATGTGCACTGCACACACGGCCAGTGGCACCGGCAGTCACGTGATGACCAAAATCCGCCACGGGGTGCCCACATGGATTTGTGTCCTTGTGGCCCAGAAGCACCAGATGCTTTTTGCCATGCCTGGCTTGTGACACTCTGGTGGCTGAGAAGATTCTGGAAAAGGAGGCTCACTCTGCATGTGTGTGGGGTGTGTTTTCCTACGTGTGTGTGTGTATACACACTTTGGTCCATGTGCACTGATAAAATTAAAACCACAGAGAGCACGGGCGATCCTTTCTTTTCCCCTGCAGCTGTTTGATCACATTGTCTCCTGCATCTCTGACTTCTTGGACTACATGGGGATCAAAGGCCCCAGGATGCCTCTGGGCTTCACGTTCTCATTTCCCTGCCAGCAGACGAGTCTGGACGCGGTGAGTCTCTGTTCTTAGGGCTCAGTGATCGGGCAGCACTGAGTCCCCTGTGGCCTGGGTGGGCTGGCCCTTGAGGCCTTCTCCAGCCTCAGTGTCATTCCTAGATGACAGTCACAGTCACAGTGGGTTGAGCCAGGCTTTATTTCACAGCCTGCAGGGCATACTGAGACTCTTCTCTCTTCTTTTCTCTTTGAAAGCGTCACCTTTTCTGGGAAACCTTCTGGTCCTCCAAGCAAAAAAAGAACCTCATCCTCTTCTGTGCCCCCTGTTCATTTGATTGTTGCCTTGCTTATAACACTTCTTACACAGTTAGTTCTTAGTGTCTTTTGTTTCTGCTAGTGGTAGACTCCGTGAGCAAGGACCTGTATCCCTGCACGCCCTAGCACAGTGTCCAATCAGAGGAGATAATAAATGTTTGTTCAATATATGAGATGAATCAGGGTCCAGGATCAGAGCTTGAGCACCTGCTGACTACTGATTGGCTGGGCTCAGAGCTGAAGGTTACAGCTCCTGTCCTTTGGAAGGCCACAGTCTAGTGGGGGAGCCGAGTCCCTAACACCAGCAGCTCCAGCTCCATGCTGTCAGGGCTGGGGAGTGGATTCTGGGCAGAAGGAACCAATGGTGCAGAGTCACGGAGGCAAGACCCAGCCTGTCACGCTGGAAGAGCTGTAGGTAGCTCTGGGTGTCACAGGTGGAGACGTGACCAGGCAGGAGTTCTGGAGGTGGGTCTTAGGCCAGGGTTTAAGGCTTAATGAGCAGCCCTAGGAGAGTTAGGTAGGGTCACCTACCTCTGTAAACCAGTTAATCCAGTTACATCGCTGACTTGGGACTTTTTTCTTCTGAAACCCTTTTAGAGCTCAGGAGTTAGATCTGTTTGTTTGTTTTTAAAGCATTTCACTTATACCTTCACCTTGGATTCATCATAGTCAACACACACCCAGTGTACTTTCTTCCCCAGGAAGTGTTTTAACTTCAATCCAGTGAAAGCTAAAATGTACTTTAGGTAGACACAGTATTACTAAACTCTTAGGATCCTTCAGTTATAGTGTCAGTAGACTCTTCTGTACAGCTGGTTATGCCAGTGGCAGCACCAGGCTTGGAATCGGGTGATCTGGGCTCTTGTCCAGTATTGAGTGCCGTCTTTGCCGTCTGCTGAGTGAACTTAGACATTGCTATTTACCTAATGTGCCTCATGCTCCATCTGTGAAGTGGGATTATTTCAAACCCCTATGAGGATGGTGAGGAGGGTCTATTCATATTTTATTGGTTTGTCCTCAGATGTTTGAACTCCGTCTCCGATGTTGTAAGCCCTCAGCAGTTGTTGACTCAGGAGGGAGGGTTGGAATTTTGTGTTCTCCCCTTCCAGGTTAATTACACAGGACTCTCCTGGTGCTTTTTATGTTGTAGGGAATCTTGATCACGTGGACAAAGGGTTTTAAGGCAACAGACTGCGTGGGCCACGATGTAGTCACCTTACTAA
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GGGAGGTTGAGGCAGCAGTGAGCTGTGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAGGAAAAGAAAAAAGAGTTAAAGAGTGGAGAAAGAAAGGGTGGCCGGAGGTCCCCAATAAATGCTCAGTCCAGCTGTTGTGGAATGTCCCCCCTGCCCCCATAAGGTATTCCCGGCGTTTCCACAAGACTCTAAGGCGCTTGGTGCCAGACTCCGATGTGCGCTTCCTCCTCTCGGAGAGTGGCAGCGGCAAGGGGGCTGCCATGGTGACGGCGGTGGCCTACCGCTTGGCCGAGCAGCACCGGCAGATAGAGGAGACCCTGGCTCATTTCCACCTCACCAAGGACATGCTGCTGGAGGTGAAGAAGAGGATGCGGGCCGAGATGGAGCTGGGGCTGAGGAAGCAGACGCACAACAATGCCGTGGTTAAGATGCTGCCCTCCTTCGTCCGGAGAACTCCCGACGGGACCGGTGAGGGCCTGCTGGGGGCTGACATGCCTGTCCTGCTCCTGCCAGGAACTGAGCCGCAGTGGGGGAGGTTGGATTCGCCAGTGGATGCCTTCACACTGGTGATGCACGATTTTGCCAGAGCTAGAAACTCCCTCACATCTCTGTTTTCCATTTTTATTAACTGATTTGTCATGTGTGTGACTCAGGGCAGTTTAATTTTCCTGGTCAGACCTCCCAGGCAAGTGCTATCTCTAAAACCACAGCCCTGCTCAGAACAGTGCTCTTAGCTGGGCAAGGTGACACACGCCTGTCATCCAGCTACTTAAGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGTCTGGGCAACATAGCAAGACCCTGTCTCAAAAAAAATTAAATGAATAAAAAAGAAGTGTTCTTAAAAGCTGGGCAAATCCCACAGCACTGATTAGGTTTTCCCAAAGCCAAGGAAAGCCAGCAGAAGGATAAACACTCAGTGTACCCTTCTTAAATCTTGATAGAGTATGCATGAGGCATTCAGGGCCTGGGGAGTTTCGCATTCAGGCAAATTGTAGAACAAAATCCAACCCTTTATGCTAACCTTGGTAGTTTTCACTGGAGCTGATCATTATGGGGAATCTGAAGAGCTTTTCAGGTGGGTCCTTGGAGTAACGAATGTTTGTGACAGGAATGTGTCCTATGTGTAAGTTACCTAATACCACATTATAAGCCACCCTCACACTTAGTGGCTTAAAACAACCACGCTTTATTATTGTTCATGCATCTGTGGGTCAGTTGGACAGTTCTGCTCATCAGGGCCAGGATTGGCTGACCTCTGCCGGCCTCATTCCTGCATCTGCAGTCAGCTGTTGAGTCAGCTGGGAGGCAGATCTCAGACGCCCTTCCCCACATGTCCAGCAGTTGGCTGTCAGCTGGGGTGCAGGGGCCCCTGGCCCTGTGTCTCATCCTTCAGTGGGCCACCTGGCTGTTCAAGTGGTGGCAGCAAGGGCTGCGAGGGAGAGGGGAAGACTTCAAAGCCTCCTGGAAGCCCAGGCTGGGGATAGGTTCAGCTTTGCCTCTGCCACACTCTGTTGGCCTGAACAATCCTAGGGCTGGGCTAGATCCCAGGGGAGGAGAAATTGACTCCATGTTTCAGTGGGAGGAACTGCAGTCATGTTGCAAAGAAGGATTTTGCACATGCAGGGAAGGGAATGATGCAGCTGTTTTTGCAAATACCCCACACCTTGACATAAATTATTATTTTTTGTAGGAGATTTTCATTGTTGCAGCCCTGGTGAAGTCTGTGTATTGTGACAGGTGGTTTACTCACATGCTCTCCTCCCAGTGTGGCTCCAAGTCTGTGGTGGTCAGAGATGTGGTGCCCACTCTTCCTCTGAGTCTGTGCTGTGTCCTAAAGGGAGGAGTTGCAGCTTCTCCTCTATGTTTGCTATGGGGTTCTCCCCTTGAAAGTCTGGAGTCTTGGGGTTACTGGCTGCCAAGAGGCACTTAGCTGTTTTTGACATTCTTTACGCTTTTGACTGCAACAGAGAATGGTGACTTCTCGGCCCTGGATCTTGGAGGAACCAATTTCCGTGTGCTGCTGGTGAAAATCCGTAGTGGGAAAAAGAGAACGGTGGAAATGCACAACAAGATCTACGCCATTCCTATTGAAATCATGCAGGGCACTGGGGAAGAGGTGAGATTACAAAACCATAGTGCATGTGCACTGCACACACGGCCAGTGGCACCGGCAGTCACGTGATGACCAAAATCCGCCACGGGGTGCCCACATGGATTTGTGTCCTTGTGGCCCAGAAGCACCAGATGCTTTTTGCCATGCCTGGCTTGTGACACTCTGGTGGCTGAGAAGATTCTGGAAAAGGAGGCTCACTCTGCATGTGTGTGGGGTGTGTTTTCCTACGTGTGTGTGTGTATACACACTTTGGTCCATGTGCACTGATAAAATTAAAACCACAGAGAGCACGGGCGATCCTTTCTTTTCCCCTGCAGCTGTTTGATCACATTGTCTCCTGCATCTCTGACTTCTTGGACTACATGGGGATCAAAGGCCCCAGGATGCCTCTGGGCTTCACGTTCTCATTTCCCTGCCAGCAGACGAGTCTGGACGCGGTGAGTCTCTGTTCTTAGGGCTCAGTGATCGGGCAGCACTGAGTCCCCTGTGGCCTGGGTGGGCTGGCCCTTGAGGCCTTCTCCAGCCTCAGTGTCATTCCTAGATGACAGTCACAGTCACAGTGGGTTGAGCCAGGCTTTATTTCACAGCCTGCAGGGCATACTGAGACTCTTCTCTCTTCTTTTCTCTTTGAAAGCGTCACCTTTTCTGGGAAACCTTCTGGTCCTCCAAGCAAAAAAAGAACCTCATCCTCTTCTGTGCCCCCTGTTCATTTGATTGTTGCCTTGCTTATAACACTTCTTACACAGTTAGTTCTTAGTGTCTTTTGTTTCTGCTAGTGGTAGACTCCGTGAGCAAGGACCTGTATCCCTGCACGCCCTAGCACAGTGTCCAATCAGAGGAGATAATAAATGTTTGTTCAATATATGAGATGAATCAGGGTCCAGGATCAGAGCTTGAGCACCTGCTGACTACTGATTGGCTGGGCTCAGAGCTGAAGGTTACAGCTCCTGTCCTTTGGAAGGCCACAGTCTAGTGGGGGAGCCGAGTCCCTAACACCAGCAGCTCCAGCTCCATGCTGTCAGGGCTGGGGAGTGGATTCTGGGCAGAAGGAACCAATGGTGCAGAGTCACGGAGGCAAGACCCAGCCTGTCACGCTGGAAGAGCTGTAGGTAGCTCTGGGTGTCACAGGTGGAGACGTGACCAGGCAGGAGTTCTGGAGGTGGGTCTTAGGCCAGGGTTTAAGGCTTAATGAGCAGCCCTAGGAGAGTTAGGTAGGGTCACCTACCTCTGTAAACCAGTTAATCCAGTTACATCGCTGACTTGGGACTTTTTTCTTCTGAAACCCTTTTAGAGCTCAGGAGTTAGATCTGTTTGTTTGTTTTTAAAGCATTTCACTTATACCTTCACCTTGGATTCATCATAGTCAACACACACCCAGTGTACTTTCTTCCCCAGGAAGTGTTTTAACTTCAATCCAGTGAAAGCTAAAATGTACTTTAGGTAGACACAGTATTACTAAACTCTTAGGATCCTTCAGTTATAGTGTCAGTAGACTCTTCTGTACAGCTGGTTATGCCAGTGGCAGCACCAGGCTTGGAATCGGGTGATCTGGGCTCTTGTCCAGTATTGAGTGCCGTCTTTGCCGTCTGCTGAGTGAACTTAGACATTGCTATTTACCTAATGTGCCTCATGCTCCATCTGTGAAGTGGGATTATTTCAAACCCCTATGAGGATGGTGAGGAGGGTCTATTCATATTTTATTGGTTTGTCCTCAGATGTTTGAACTCCGTCTCCGATGTTGTAAGCCCTCAGCAGTTGTTGACTCAGGAGGGAGGGTTGGAATTTTGTGTTCTCCCCTTCCAGGTTAATTACACAGGACTCTCCTGGTGCTTTTTATGTTGTAGGGAATCTTGATCACGTGGACAAAGGGTTTTAAGGCAACAGACTGCGTGGGCCACGATGTAGTCACCTTACTAA
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Task1_train_13951
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This gene mutation involves HK1 (hexokinase 1) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hemolytic anemia due to hexokinase deficiency
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GCTTGGGAAGAGGCCCCAGCAGGCTGCCTTCCAGGTGCCAGGAAGAACTTTTCATTCATTGTTAAGCCACTTTTCGCTTCTGTTGAAATTTTAAAAAACCTAGGGAGCAGCTGCTGGTGAAAAGGTTGTTTGGGGCCTGGCTTTCTCCACCCAGCCCCTCCCTTTCTTTCCATGAATGGGCTTGGGTATGAAATGCAAAGCTAGAGTGACACAGCAGCTCTCCTCCTCCTGCAGGCCCCACCTTCCCTCCTGGGAGGTCAGGCCCGCCCGTTTCCTGGCACCAGGCTCCAGCTACATTTCATAGCTACTTCATAGCTACTTTTTCTTTCCTCCATCAATTGATCTCTTTGCTCAGGACTCCCATAGGCAAGATGTATGGTTTCCATGTTTTGGCTTTCTTTGCATCTCCCACTCCCATCATCTTCCGTTTCTGGAGCTCCTCTTCTCTCAGTTTTAACCTTGGGTGAAAAGGGGGCTGAGAAAACAAAGAACAAAAATCATCCAACTGTACAGTCTTTGAACTCTACTTAAGTTTCTTCAAAGGGGATGAAAACTACCAAAGCCCTTTTGGTCTGGCCAGGGGGTGTGTCTTGTGCCCTCCCGATGAAAGTTCACCTACATCCCACCCTGGATGGGTGGATGGTGCTCCTGGGCGCATCATTAGCATCATCCTGGGAGCTTGTTAGAGATGCAGGCTCTCAGGTCCTGGCCCTAGCCTCTTGAATCTGGATCTGCTTCTTAGGGTCCCCAGGTGATCCAGGTGCATATTAAAGTATGTGTGTGAAGCACTCTTCCTGGGTTAGTTGATTGGTTTTTAAATGTCCAGTCTATTCAGTGAGGCAAGTTCAGTGACCACAAGCTTGGATATCATGGCAATTAAAATTGCTGTGAAAGTTGCAGGATGCTTGCCTTCAGTTTCTTAGCTCCTCATGGGCTGGAACAGCAAACAGTCGGTGGTCCTTCTATTTTGAGTGACTCTGCTCTAGGGAGTTCAGGAATGGAAGTCAGAGATTCCTGAGCCCCTGGCAAGCATATGTCAGGTTGCATGTGTGCGGTGTGTGGGTCCACCCAGAGAAAGGTGCCTTTTTCACAGAAGAATCCTCTGATCTTCAAAGGTCTGATACAAAAATGATGAAAAACCATTGCTTTTGAAAGCCCCCCTTGAAATGCTGAAGACACTGTCCTGCCCTGAACTGTGGGCTTCATCCCAAGGTATGTAGGAAAGCTTATTGAGCAGGCATAGTCCACGACCAACCATCCTTGTCGAGAAAAGATAAGTGGGGCTGGGCGTGGTGCCCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGCGAGAGGGTAGCTCGAGCCCAGGAATTTGAGATGAACCTAGGCAACATGGCAAAACCCTATCTCTACTAAAAATTTTAAAAAATTAGCCAGGCATGATGGTGGTGCCTGTAGTCCAGCCACTTGGAAGGCTGAGGTGGGAAAATCACTTGAGCCCTGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCGCTGCACTCCAGCCTGGGTGACAGAGCCAGACCCTGTCTTGAAGAAAAGAAAAAGAAAATAAGTGAATATCTATGGTATGATAGAAGATAATCCCCTAATATTTTATACACATATATATAGGCATGTATATATTGTATATTCATGTGTGCATGATGTTGTGTGTGTACGTATATATTTCTTCTTCTGGTCTGAATGTTGCCTAAACCTCTACCATTGATGCTCCATCTCTTTGCTATAAAGCCATCTTCTATTAAAATAAACATAACCCTGCCTGGACGGGTGAACACATTGGCTCTTGGTTGAAAGTCAGCTAAGCAGGTGCCCTCTGGGTGATGTGGCTCAGACTCTCCATTTACATTTCAAATTTTTCCATTTCAAAATTGGGAAAGAAAAACTATTACTTTGTTCATCACAAAAAACGTGCCCCCTGCCTGTGGAACCTCAGGCCCCAGACCCCAGGCCCAGTTGCAAGACCCCCAAATGCAAGGCCACCGCTCCTCATTGCCCCCTCGTGTGTTCCAGGGACCGGCAGCAATGCCTGCTACATGGAGGAGATGAAGAACGTGGAGATGGTGGAGGGGGACCAGGGGCAGATGTGCATCAACATGGAGTGGGGGGCCTTTGGGGACAACGGGTGTCTGGATGATATCAGGACACACTACGACAGACTGGTGGACGAATATTCCCTAAATGCTGGGAAACAAAGGTAACCCCGCCTGGTGGAGAGGACACTCACAGTCAGGGTGGGGGCAGCACTTGGCTGCATTCTGCCACTTGCAGTGGAAGAAGTTTCTAGGAGGAGAGGTCTGAACAGAGGTTTCAAGACTGGACCCCCTGGCTCACTCCTGACCTTTGTCTTTTGGACAGCAGAGAACCAGGGAGGACAGACCCCCAACATGGTACAAGATGGCCCAGGGTTGATGCCTGTCTAGGGGCTGCCTGTGACTGTTTTTTAGCCTGGAGGATTCTGGCCTTCCGGTCCCCTTGCTGTGTTCCTTTCCCATCAGAATAACAAGGGGGTGGGGTGAGGGTGGCTGGGCGGCAGGTTGGTGTGAAGCAGAGGCCCTGTCGCAATCGTCCTTTCCTCCGTGAGCCTCCTGCACCACCTAGTGGCCTTGTGGAGCTTTGCAGCTCAGGTCTCAGGTACCATGTCTGAAATGGCAGTGTCTGCCCTTTGTCTCAAGCCCCCAGGAATCAGGCCATCCTCTGCCACGGCCAGGATGAGTTGGTCCAAGTTGTCTCCCTAGGAGCAGAAAGAAGGGCTGGAGCAGCACCCAGCATGAGTCACTCCCTAGCCCCCTCAAGGTTTTTGCCTTTTCTAAATACCACCCATGCTGTTATTTACTTAGTGCTTTTCTTCGAATCAGCTTACAGTTTTTTGTTTTTCTTTTTGTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATACACAACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCTGTCTAGGTCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCAACCAGCCCTTATAGTCTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGTCCAGGCTAGAGTGCAGTGGTGCGAGCTCAGCTCACTGCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACGGCACCACGCCCAGCTAGTTTTTGTATTTTTGGTAGAGACCAGGTTTCACCATGTTGGTCAGACTGGTCTCGAACTCCTGACCTCAGGTGATTGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCAGTGGCCTTTAAGGTCTTTACTGACATTTAATGAAGGAGGAAAAAGAGGAAGAACCAATAGTACCATAAAGAGATGGTAACTAAAAAATGAGTATAGTGAAGAACCGTGCTATTCAAGTCTAGCTGATGCTGTCGCCTACCAAATGACCTGAACTAAGACCCCCTTTGGGCTGAGTGCAGTCTATCATCAAAGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCTCAGGAGGTTGAGACCACCCTGGGCAACATAGGGTTGAGACCCTGTCTCTACTAAAAATTAATAACAATAATAACAACAATAATAGTAAGACCCCCTTGGTTAAAAAGCGGGGGGATCAGCAAGTGTTGGAAGGGGTTAAGGACATGTCAGCACCAAACTGGGGTGGTCTTTGTGGTGGAATGAGAAGGACTGGGTGGGACTTCGTAGTGGTGGCCCACCCCTCTGTGATTCCATTCTGTTTCATGTTCTTCCATGGACCACATGAAATAGGAGGAATCCTGGAGTTCCAAATTCCAGGGGACTCTTCTCAGCTTTGGGACACTGGGCTTGGGCATGTGCCATGG
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GCTTGGGAAGAGGCCCCAGCAGGCTGCCTTCCAGGTGCCAGGAAGAACTTTTCATTCATTGTTAAGCCACTTTTCGCTTCTGTTGAAATTTTAAAAAACCTAGGGAGCAGCTGCTGGTGAAAAGGTTGTTTGGGGCCTGGCTTTCTCCACCCAGCCCCTCCCTTTCTTTCCATGAATGGGCTTGGGTATGAAATGCAAAGCTAGAGTGACACAGCAGCTCTCCTCCTCCTGCAGGCCCCACCTTCCCTCCTGGGAGGTCAGGCCCGCCCGTTTCCTGGCACCAGGCTCCAGCTACATTTCATAGCTACTTCATAGCTACTTTTTCTTTCCTCCATCAATTGATCTCTTTGCTCAGGACTCCCATAGGCAAGATGTATGGTTTCCATGTTTTGGCTTTCTTTGCATCTCCCACTCCCATCATCTTCCGTTTCTGGAGCTCCTCTTCTCTCAGTTTTAACCTTGGGTGAAAAGGGGGCTGAGAAAACAAAGAACAAAAATCATCCAACTGTACAGTCTTTGAACTCTACTTAAGTTTCTTCAAAGGGGATGAAAACTACCAAAGCCCTTTTGGTCTGGCCAGGGGGTGTGTCTTGTGCCCTCCCGATGAAAGTTCACCTACATCCCACCCTGGATGGGTGGATGGTGCTCCTGGGCGCATCATTAGCATCATCCTGGGAGCTTGTTAGAGATGCAGGCTCTCAGGTCCTGGCCCTAGCCTCTTGAATCTGGATCTGCTTCTTAGGGTCCCCAGGTGATCCAGGTGCATATTAAAGTATGTGTGTGAAGCACTCTTCCTGGGTTAGTTGATTGGTTTTTAAATGTCCAGTCTATTCAGTGAGGCAAGTTCAGTGACCACAAGCTTGGATATCATGGCAATTAAAATTGCTGTGAAAGTTGCAGGATGCTTGCCTTCAGTTTCTTAGCTCCTCATGGGCTGGAACAGCAAACAGTCGGTGGTCCTTCTATTTTGAGTGACTCTGCTCTAGGGAGTTCAGGAATGGAAGTCAGAGATTCCTGAGCCCCTGGCAAGCATATGTCAGGTTGCATGTGTGCGGTGTGTGGGTCCACCCAGAGAAAGGTGCCTTTTTCACAGAAGAATCCTCTGATCTTCAAAGGTCTGATACAAAAATGATGAAAAACCATTGCTTTTGAAAGCCCCCCTTGAAATGCTGAAGACACTGTCCTGCCCTGAACTGTGGGCTTCATCCCAAGGTATGTAGGAAAGCTTATTGAGCAGGCATAGTCCACGACCAACCATCCTTGTCGAGAAAAGATAAGTGGGGCTGGGCGTGGTGCCCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGCGAGAGGGTAGCTCGAGCCCAGGAATTTGAGATGAACCTAGGCAACATGGCAAAACCCTATCTCTACTAAAAATTTTAAAAAATTAGCCAGGCATGATGGTGGTGCCTGTAGTCCAGCCACTTGGAAGGCTGAGGTGGGAAAATCACTTGAGCCCTGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCGCTGCACTCCAGCCTGGGTGACAGAGCCAGACCCTGTCTTGAAGAAAAGAAAAAGAAAATAAGTGAATATCTATGGTATGATAGAAGATAATCCCCTAATATTTTATACACATATATATAGGCATGTATATATTGTATATTCATGTGTGCATGATGTTGTGTGTGTACGTATATATTTCTTCTTCTGGTCTGAATGTTGCCTAAACCTCTACCATTGATGCTCCATCTCTTTGCTATAAAGCCATCTTCTATTAAAATAAACATAACCCTGCCTGGACGGGTGAACACATTGGCTCTTGGTTGAAAGTCAGCTAAGCAGGTGCCCTCTGGGTGATGTGGCTCAGACTCTCCATTTACATTTCAAATTTTTCCATTTCAAAATTGGGAAAGAAAAACTATTACTTTGTTCATCACAAAAAACGTGCCCCCTGCCTGTGGAACCTCAGGCCCCAGACCCCAGGCCCAGTTGCAAGACCCCCAAATGCAAGGCCACCGCTCCTCATTGCCCCCTCGTGTGTTCCAGGGAGCGGCAGCAATGCCTGCTACATGGAGGAGATGAAGAACGTGGAGATGGTGGAGGGGGACCAGGGGCAGATGTGCATCAACATGGAGTGGGGGGCCTTTGGGGACAACGGGTGTCTGGATGATATCAGGACACACTACGACAGACTGGTGGACGAATATTCCCTAAATGCTGGGAAACAAAGGTAACCCCGCCTGGTGGAGAGGACACTCACAGTCAGGGTGGGGGCAGCACTTGGCTGCATTCTGCCACTTGCAGTGGAAGAAGTTTCTAGGAGGAGAGGTCTGAACAGAGGTTTCAAGACTGGACCCCCTGGCTCACTCCTGACCTTTGTCTTTTGGACAGCAGAGAACCAGGGAGGACAGACCCCCAACATGGTACAAGATGGCCCAGGGTTGATGCCTGTCTAGGGGCTGCCTGTGACTGTTTTTTAGCCTGGAGGATTCTGGCCTTCCGGTCCCCTTGCTGTGTTCCTTTCCCATCAGAATAACAAGGGGGTGGGGTGAGGGTGGCTGGGCGGCAGGTTGGTGTGAAGCAGAGGCCCTGTCGCAATCGTCCTTTCCTCCGTGAGCCTCCTGCACCACCTAGTGGCCTTGTGGAGCTTTGCAGCTCAGGTCTCAGGTACCATGTCTGAAATGGCAGTGTCTGCCCTTTGTCTCAAGCCCCCAGGAATCAGGCCATCCTCTGCCACGGCCAGGATGAGTTGGTCCAAGTTGTCTCCCTAGGAGCAGAAAGAAGGGCTGGAGCAGCACCCAGCATGAGTCACTCCCTAGCCCCCTCAAGGTTTTTGCCTTTTCTAAATACCACCCATGCTGTTATTTACTTAGTGCTTTTCTTCGAATCAGCTTACAGTTTTTTGTTTTTCTTTTTGTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATACACAACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCTGTCTAGGTCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCAACCAGCCCTTATAGTCTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGTCCAGGCTAGAGTGCAGTGGTGCGAGCTCAGCTCACTGCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACGGCACCACGCCCAGCTAGTTTTTGTATTTTTGGTAGAGACCAGGTTTCACCATGTTGGTCAGACTGGTCTCGAACTCCTGACCTCAGGTGATTGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCAGTGGCCTTTAAGGTCTTTACTGACATTTAATGAAGGAGGAAAAAGAGGAAGAACCAATAGTACCATAAAGAGATGGTAACTAAAAAATGAGTATAGTGAAGAACCGTGCTATTCAAGTCTAGCTGATGCTGTCGCCTACCAAATGACCTGAACTAAGACCCCCTTTGGGCTGAGTGCAGTCTATCATCAAAGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCTCAGGAGGTTGAGACCACCCTGGGCAACATAGGGTTGAGACCCTGTCTCTACTAAAAATTAATAACAATAATAACAACAATAATAGTAAGACCCCCTTGGTTAAAAAGCGGGGGGATCAGCAAGTGTTGGAAGGGGTTAAGGACATGTCAGCACCAAACTGGGGTGGTCTTTGTGGTGGAATGAGAAGGACTGGGTGGGACTTCGTAGTGGTGGCCCACCCCTCTGTGATTCCATTCTGTTTCATGTTCTTCCATGGACCACATGAAATAGGAGGAATCCTGGAGTTCCAAATTCCAGGGGACTCTTCTCAGCTTTGGGACACTGGGCTTGGGCATGTGCCATGG
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Task1_train_13952
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The gene NEUROG3 (neurogenin 3) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Congenital malabsorptive diarrhea 4
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CAGGACACCCCTGGCCAATTCAAGGAGGCCTCTGTAGTTCAACTAGCAGGTAGGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGTAAAATATGCTCAGGGGATTTGCTAGGCCTCTAAGCACCTTGGGAAAATTCCTAGGATGCCCAGCCCAGCCGTGTTTCCGAGGACTCTGACTCTGCAATTGAATTATTACTGTATCCCTTCCCCAAGTGCAACCAACAGTTGCTCTAAAGCTAGGCTGGTGGAGTTGGGGAAAGGGCCAGCAAGTGAGAGTCAGTTGTCCTAGTTGGAGGCTTGTCTTTCTTCTAAACCACTCTTTGAAATAAGAGGAGTCATTGCCCTATATAGAAAAAAGGGAGCTGGACCAATAATTACTTAGAAGACTTCCAGCTCTCCAAACCCAATCTGCCCTGGCTCTAGCCCAGACCTCCAGAAAGAGTGTCATCCCTCTCTTTGGACAGAAGTGCTCTTCCTCAGCTGTAGTGACTGTGGCCCTCCTCTCCCCAACACACAATGGAGTCATCTTGCCAAGGCTTCTTGAAGGTCCATTTTTTTTTATTGGCTTAAAATCTCATCCAGCAATCCCTAAATAATCTAATATACAAAATATAGGCTTTTCCCTGCTGTGAAATCTCATTAATAAATACAAATGTGTAAAACAGGGGAGGGGCCATATAATTTACTGTACCAAAATTGATTTCAAAAGGCATCATATAATTTACAAACAGATTTAAAAAAAAAAGATGCGCGGTGCTCCAGGCACCTGCAGCGCAGCTCACGTTTCAGGCGCAGTTCGCAGGGAGGCTGGGGAGATGCTCCCTGGCCGGGCTAGCGCTTTCCCAGTTCACAGCCTGGTCTTCCGCCCCGGGAGGGCAATGGCTCCGAAAAGTGCACGAGGAGAAGGCAGAGGGTCGCCTTCGTGGCTTTAAGGCAGAGTGAGGCGCCCTGAAATCCCGGACCTGATTGGGAGTAGAGCAGATCGGCAGCGTCTTTGGAGCAAGGCAAGGGGAGTAAGCGCTGAGAGACCAAACATTGGATTGAATCACATTGGAGGAGGGGTGGTAAGAGACTGAGAGGCAGACAGACTTGAGTGAGGGTAGGGCGACCCAAGACGGTGGGCGGCTCCGGCCGGGTAGTGCTACCATTCTAGTATTCTTTGAATGAGATTATGGGGTGGTGGCAGAGAGGAGGCCTAAAATGAGCGCACTTTGCAATGCCCACTTCGCGCGGGCAGCAGCAAGGGTTGCGTGCGTTGGCGCGGCTCGGAGGGCCGGGGAATGAACCCAGCCTGCCGCCCCCGTGGAGGCCTGGGCCGGCCAGGGGTCAGCCAGGGAGAAGCAGAAGGAACAAGTGCTTTTGAGGGCCGCCGCCGTCGGCCACCCTCTACGGCTCCCGGCTCCCTCCCTCTCCCTTACCCTTAGCACCCACAGCCCAGCGACAGACAGGTCCTTTCACAGAAAATCTGAGAAAGCCAGACTGCCTGGGCTCAAGCAGGCGGAAAAGGTGGCCCCCAGCAGCCCGGGTCGCTCCTCCAGCGACGCGGCGGGACTCAGGCTGCCAGCCTGGGAGACTGGGGAGTAGAGGGACCCCCAGTCCCCGGGGGAACCGCCTGGGCTGCCCAGCTCCCCGCAGTGCGGCGCCGGCGGCTCCAGCGCGTACAAGCTGTGGTCCGCTATGCGCAGCGTTTGAGTCAGCGCCCAGATGTAGTTGTGGGCGAAGCGCAGCGTCTCGATCTTGGTGAGCTTCGCGTCGTCTGGGAAGGTGGGCAGGACACCGCGCAGGGCGTCCAGTGCCGAGTTGAGGTTGTGCATTCGATTGCGCTCGCGGTCGTTGGCCTTCTTTCGCCGACTCCGTCGCTGCTTGCTCAGTGCCAACTCGCTCTTAGGCCGGCTGCGTCCCCCGCGCCGTGCCCGGAGCTTCCTCGGGGCCCCTCGGCAGCCTCCCTCTTCCGCCTCTGCGCAGTTCCCCCGTGTGCGAGTGGGGCTGGGCGGGGCGGACGTGGGGCAGGTCACTTCGTCTTCCGAGGCTCTGGGGAAGGACCGCTCCGTCTCACGGGTCACTTGGACAGTGGGCGCACCCGAGGGTTGAGGCGTCATCCTACGGCGGGGTCAGAGGGAAGGGTAAGTTTGAGTCCGTCACTGGGCGCAGTCCGCGATTCCGAGGCTAGGTGGGAAAAAACAAAAACAGCCATCCTCCCAGCCCCCGCTGGGTCAGAGGATCCCTCTTTCCCCTGCCCGTCCCTCGGAGGCCTCCAAATATTACCTTTCTACCGGCGCAAAAGAATAGAGAGCGATGAGCAGCGAGGGCCGTGGGGAGCTCAGCGGGCTTCTGGTCGCCAAGTTCAGCTGAGCTGCAGGCGCCCCCGCCTGGGAGTTGCCCCAGCCCCAAAGGAGAAAAGAAGAGAGAATGGGGTCCGAGGCCTCTGTCACGCTCTCTCTCGAGGCGCGGCGGTGAGACCGCAGGGATTTCCTGAGCAGCAAGTCGTGTGCCCCTTGGCACGCTTTATCTGCTTCGCCCGGGCCAGGAGCGTGCCTGCCCGGCTGCTGCCCGCGCCACCGGCCAATCAGCGCCGGGGCCCTGGGGCCGCGCCACGCGAGCCCGCTCCTCCCCCGCAGGGCACAGCTGGATTCCGGACAAAGGGCCGGGGTCGGGGGAGGGGAGCGCCGCTCTGTTTGCTCTCTCGAGGGCGGGCTGGGTCCCAGCAACTCTCGGTTCCTCAAAGAGCCTCGCCCAGTGAGAAGAGCCTCGTGTGGCTCTGGTCAGGCCACCTCAGACGGCTTTGCTCCTAGCCTATCTTTCCTTAGCATCTGTCCTGGAGGGGACTTTGATGCCTCTAGGGTACAATGCCTGCACGTTACACATGGGGAAATTTAGGCTTAGTGAGGGAGGTGGCTTGTCTGAAATCGCACAGGAAGATAGTGGCAAAGACAACCACGAGCTCATTGTCCTGACTAGCAGCCTGGAGAAGGGTCCAGGAATTCTAAAGGACGCCCTGCTCTCCTGGTGTTTCACTGCCTCTCTTCATCCTGGAAGACAGGGGACATCACTGAGAGAGATCCTGCCTATGTCCCTTCCATTCGCAGACCTTTTGGGGGTGTCCGAGCCTCTGCCACACCCTGAGATGCTACCTCACACTCCCCAGAGGCGCTTAGAACCCCACCCCCATAGATCCCACTCCAGAGGCAGGGGTTGGCTGTGCGGGGACCCCTCAAGCGGACATTCCATTACTACAAGCCTACTACAGCTTGTAGATAGTATCCCAGCGTTCTGGCCAGGAACCGTGACAGGAAGAGTTCTGGGAAGTGTGAGGAGGGGAGGAAGGAACCAGGAGTTCACAGTGAGCTCTTGCTTCTTTTTTTTTTTAAACGAACAAACAAAACCAAAAAACGGTCTCCTTCTGTCGCCCAGGCTGGACTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCTGGGCTCAAGCTATCCTCCCACTTCAGCCTTCCCAGTAGCTGAGACTACAGGCATGCGCCACTGTGCCCGGCTAATTTATTTGTATTTTTATTTTGTATGGGGTGAGGGGCGGTCTTGCTTTGTTGCCCAGGATGGTCTCGAACTCCTGGGCTCAAGCGTTCCTTTCACTTCAGTCTCCCAAGGCGCTGGGAAGCAGAGCTGCTGTGCCCCTCCCCCTCGTGTCTTTTGAACTACCACAGCGTGCAGGCACTGGGAGAAGCTGATAAACTTTTTCTCCCCTTAGTCCTCCGGTCCAATCACAGACAGACAGCAGCTGC
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CAGGACACCCCTGGCCAATTCAAGGAGGCCTCTGTAGTTCAACTAGCAGGTAGGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGTAAAATATGCTCAGGGGATTTGCTAGGCCTCTAAGCACCTTGGGAAAATTCCTAGGATGCCCAGCCCAGCCGTGTTTCCGAGGACTCTGACTCTGCAATTGAATTATTACTGTATCCCTTCCCCAAGTGCAACCAACAGTTGCTCTAAAGCTAGGCTGGTGGAGTTGGGGAAAGGGCCAGCAAGTGAGAGTCAGTTGTCCTAGTTGGAGGCTTGTCTTTCTTCTAAACCACTCTTTGAAATAAGAGGAGTCATTGCCCTATATAGAAAAAAGGGAGCTGGACCAATAATTACTTAGAAGACTTCCAGCTCTCCAAACCCAATCTGCCCTGGCTCTAGCCCAGACCTCCAGAAAGAGTGTCATCCCTCTCTTTGGACAGAAGTGCTCTTCCTCAGCTGTAGTGACTGTGGCCCTCCTCTCCCCAACACACAATGGAGTCATCTTGCCAAGGCTTCTTGAAGGTCCATTTTTTTTTATTGGCTTAAAATCTCATCCAGCAATCCCTAAATAATCTAATATACAAAATATAGGCTTTTCCCTGCTGTGAAATCTCATTAATAAATACAAATGTGTAAAACAGGGGAGGGGCCATATAATTTACTGTACCAAAATTGATTTCAAAAGGCATCATATAATTTACAAACAGATTTAAAAAAAAAAGATGCGCGGTGCTCCAGGCACCTGCAGCGCAGCTCACGTTTCAGGCGCAGTTCGCAGGGAGGCTGGGGAGATGCTCCCTGGCCGGGCTAGCGCTTTCCCAGTTCACAGCCTGGTCTTCCGCCCCGGGAGGGCAATGGCTCCGAAAAGTGCACGAGGAGAAGGCAGAGGGTCGCCTTCGTGGCTTTAAGGCAGAGTGAGGCGCCCTGAAATCCCGGACCTGATTGGGAGTAGAGCAGATCGGCAGCGTCTTTGGAGCAAGGCAAGGGGAGTAAGCGCTGAGAGACCAAACATTGGATTGAATCACATTGGAGGAGGGGTGGTAAGAGACTGAGAGGCAGACAGACTTGAGTGAGGGTAGGGCGACCCAAGACGGTGGGCGGCTCCGGCCGGGTAGTGCTACCATTCTAGTATTCTTTGAATGAGATTATGGGGTGGTGGCAGAGAGGAGGCCTAAAATGAGCGCACTTTGCAATGCCCACTTCGCGCGGGCAGCAGCAAGGGTTGCGTGCGTTGGCGCGGCTCGGAGGGCCGGGGAATGAACCCAGCCTGCCGCCCCCGTGGAGGCCTGGGCCGGCCAGGGGTCAGCCAGGGAGAAGCAGAAGGAACAAGTGCTTTTGAGGGCCGCCGCCGTCGGCCACCCTCTACGGCTCCCGGCTCCCTCCCTCTCCCTTACCCTTAGCACCCACAGCCCAGCGACAGACAGGTCCTTTCACAGAAAATCTGAGAAAGCCAGACTGCCTGGGCTCAAGCAGGCGGAAAAGGTGGCCCCCAGCAGCCCGGGTCGCTCCTCCAGCGACGCGGCGGGACTCAGGCTGCCAGCCTGGGAGACTGGGGAGTAGAGGGACCCCCAGTCCCCGGGGGAACCGCCTGGGCTGCCCAGCTCCCCGCAGTGCGGCGCCGGCGGCTCCAGCGCGTACAAGCTGTGGTCCGCTATGCGCAGCGTTTGAGTCAGCGCCCAGATGTAGTTGTGGGCGAAGCGCAGCCTCTCGATCTTGGTGAGCTTCGCGTCGTCTGGGAAGGTGGGCAGGACACCGCGCAGGGCGTCCAGTGCCGAGTTGAGGTTGTGCATTCGATTGCGCTCGCGGTCGTTGGCCTTCTTTCGCCGACTCCGTCGCTGCTTGCTCAGTGCCAACTCGCTCTTAGGCCGGCTGCGTCCCCCGCGCCGTGCCCGGAGCTTCCTCGGGGCCCCTCGGCAGCCTCCCTCTTCCGCCTCTGCGCAGTTCCCCCGTGTGCGAGTGGGGCTGGGCGGGGCGGACGTGGGGCAGGTCACTTCGTCTTCCGAGGCTCTGGGGAAGGACCGCTCCGTCTCACGGGTCACTTGGACAGTGGGCGCACCCGAGGGTTGAGGCGTCATCCTACGGCGGGGTCAGAGGGAAGGGTAAGTTTGAGTCCGTCACTGGGCGCAGTCCGCGATTCCGAGGCTAGGTGGGAAAAAACAAAAACAGCCATCCTCCCAGCCCCCGCTGGGTCAGAGGATCCCTCTTTCCCCTGCCCGTCCCTCGGAGGCCTCCAAATATTACCTTTCTACCGGCGCAAAAGAATAGAGAGCGATGAGCAGCGAGGGCCGTGGGGAGCTCAGCGGGCTTCTGGTCGCCAAGTTCAGCTGAGCTGCAGGCGCCCCCGCCTGGGAGTTGCCCCAGCCCCAAAGGAGAAAAGAAGAGAGAATGGGGTCCGAGGCCTCTGTCACGCTCTCTCTCGAGGCGCGGCGGTGAGACCGCAGGGATTTCCTGAGCAGCAAGTCGTGTGCCCCTTGGCACGCTTTATCTGCTTCGCCCGGGCCAGGAGCGTGCCTGCCCGGCTGCTGCCCGCGCCACCGGCCAATCAGCGCCGGGGCCCTGGGGCCGCGCCACGCGAGCCCGCTCCTCCCCCGCAGGGCACAGCTGGATTCCGGACAAAGGGCCGGGGTCGGGGGAGGGGAGCGCCGCTCTGTTTGCTCTCTCGAGGGCGGGCTGGGTCCCAGCAACTCTCGGTTCCTCAAAGAGCCTCGCCCAGTGAGAAGAGCCTCGTGTGGCTCTGGTCAGGCCACCTCAGACGGCTTTGCTCCTAGCCTATCTTTCCTTAGCATCTGTCCTGGAGGGGACTTTGATGCCTCTAGGGTACAATGCCTGCACGTTACACATGGGGAAATTTAGGCTTAGTGAGGGAGGTGGCTTGTCTGAAATCGCACAGGAAGATAGTGGCAAAGACAACCACGAGCTCATTGTCCTGACTAGCAGCCTGGAGAAGGGTCCAGGAATTCTAAAGGACGCCCTGCTCTCCTGGTGTTTCACTGCCTCTCTTCATCCTGGAAGACAGGGGACATCACTGAGAGAGATCCTGCCTATGTCCCTTCCATTCGCAGACCTTTTGGGGGTGTCCGAGCCTCTGCCACACCCTGAGATGCTACCTCACACTCCCCAGAGGCGCTTAGAACCCCACCCCCATAGATCCCACTCCAGAGGCAGGGGTTGGCTGTGCGGGGACCCCTCAAGCGGACATTCCATTACTACAAGCCTACTACAGCTTGTAGATAGTATCCCAGCGTTCTGGCCAGGAACCGTGACAGGAAGAGTTCTGGGAAGTGTGAGGAGGGGAGGAAGGAACCAGGAGTTCACAGTGAGCTCTTGCTTCTTTTTTTTTTTAAACGAACAAACAAAACCAAAAAACGGTCTCCTTCTGTCGCCCAGGCTGGACTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCTGGGCTCAAGCTATCCTCCCACTTCAGCCTTCCCAGTAGCTGAGACTACAGGCATGCGCCACTGTGCCCGGCTAATTTATTTGTATTTTTATTTTGTATGGGGTGAGGGGCGGTCTTGCTTTGTTGCCCAGGATGGTCTCGAACTCCTGGGCTCAAGCGTTCCTTTCACTTCAGTCTCCCAAGGCGCTGGGAAGCAGAGCTGCTGTGCCCCTCCCCCTCGTGTCTTTTGAACTACCACAGCGTGCAGGCACTGGGAGAAGCTGATAAACTTTTTCTCCCCTTAGTCCTCCGGTCCAATCACAGACAGACAGCAGCTGC
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Task1_train_13953
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This is a variant in NEUROG3 (neurogenin 3), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Congenital malabsorptive diarrhea 4
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GGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGTAAAATATGCTCAGGGGATTTGCTAGGCCTCTAAGCACCTTGGGAAAATTCCTAGGATGCCCAGCCCAGCCGTGTTTCCGAGGACTCTGACTCTGCAATTGAATTATTACTGTATCCCTTCCCCAAGTGCAACCAACAGTTGCTCTAAAGCTAGGCTGGTGGAGTTGGGGAAAGGGCCAGCAAGTGAGAGTCAGTTGTCCTAGTTGGAGGCTTGTCTTTCTTCTAAACCACTCTTTGAAATAAGAGGAGTCATTGCCCTATATAGAAAAAAGGGAGCTGGACCAATAATTACTTAGAAGACTTCCAGCTCTCCAAACCCAATCTGCCCTGGCTCTAGCCCAGACCTCCAGAAAGAGTGTCATCCCTCTCTTTGGACAGAAGTGCTCTTCCTCAGCTGTAGTGACTGTGGCCCTCCTCTCCCCAACACACAATGGAGTCATCTTGCCAAGGCTTCTTGAAGGTCCATTTTTTTTTATTGGCTTAAAATCTCATCCAGCAATCCCTAAATAATCTAATATACAAAATATAGGCTTTTCCCTGCTGTGAAATCTCATTAATAAATACAAATGTGTAAAACAGGGGAGGGGCCATATAATTTACTGTACCAAAATTGATTTCAAAAGGCATCATATAATTTACAAACAGATTTAAAAAAAAAAGATGCGCGGTGCTCCAGGCACCTGCAGCGCAGCTCACGTTTCAGGCGCAGTTCGCAGGGAGGCTGGGGAGATGCTCCCTGGCCGGGCTAGCGCTTTCCCAGTTCACAGCCTGGTCTTCCGCCCCGGGAGGGCAATGGCTCCGAAAAGTGCACGAGGAGAAGGCAGAGGGTCGCCTTCGTGGCTTTAAGGCAGAGTGAGGCGCCCTGAAATCCCGGACCTGATTGGGAGTAGAGCAGATCGGCAGCGTCTTTGGAGCAAGGCAAGGGGAGTAAGCGCTGAGAGACCAAACATTGGATTGAATCACATTGGAGGAGGGGTGGTAAGAGACTGAGAGGCAGACAGACTTGAGTGAGGGTAGGGCGACCCAAGACGGTGGGCGGCTCCGGCCGGGTAGTGCTACCATTCTAGTATTCTTTGAATGAGATTATGGGGTGGTGGCAGAGAGGAGGCCTAAAATGAGCGCACTTTGCAATGCCCACTTCGCGCGGGCAGCAGCAAGGGTTGCGTGCGTTGGCGCGGCTCGGAGGGCCGGGGAATGAACCCAGCCTGCCGCCCCCGTGGAGGCCTGGGCCGGCCAGGGGTCAGCCAGGGAGAAGCAGAAGGAACAAGTGCTTTTGAGGGCCGCCGCCGTCGGCCACCCTCTACGGCTCCCGGCTCCCTCCCTCTCCCTTACCCTTAGCACCCACAGCCCAGCGACAGACAGGTCCTTTCACAGAAAATCTGAGAAAGCCAGACTGCCTGGGCTCAAGCAGGCGGAAAAGGTGGCCCCCAGCAGCCCGGGTCGCTCCTCCAGCGACGCGGCGGGACTCAGGCTGCCAGCCTGGGAGACTGGGGAGTAGAGGGACCCCCAGTCCCCGGGGGAACCGCCTGGGCTGCCCAGCTCCCCGCAGTGCGGCGCCGGCGGCTCCAGCGCGTACAAGCTGTGGTCCGCTATGCGCAGCGTTTGAGTCAGCGCCCAGATGTAGTTGTGGGCGAAGCGCAGCGTCTCGATCTTGGTGAGCTTCGCGTCGTCTGGGAAGGTGGGCAGGACACCGCGCAGGGCGTCCAGTGCCGAGTTGAGGTTGTGCATTCGATTGCGCTCGCGGTCGTTGGCCTTCTTTCGCCGACTCCGTCGCTGCTTGCTCAGTGCCAACTCGCTCTTAGGCCGGCTGCGTCCCCCGCGCCGTGCCCGGAGCTTCCTCGGGGCCCCTCGGCAGCCTCCCTCTTCCGCCTCTGCGCAGTTCCCCCGTGTGCGAGTGGGGCTGGGCGGGGCGGACGTGGGGCAGGTCACTTCGTCTTCCGAGGCTCTGGGGAAGGACCGCTCCGTCTCACGGGTCACTTGGACAGTGGGCGCACCCGAGGGTTGAGGCGTCATCCTACGGCGGGGTCAGAGGGAAGGGTAAGTTTGAGTCCGTCACTGGGCGCAGTCCGCGATTCCGAGGCTAGGTGGGAAAAAACAAAAACAGCCATCCTCCCAGCCCCCGCTGGGTCAGAGGATCCCTCTTTCCCCTGCCCGTCCCTCGGAGGCCTCCAAATATTACCTTTCTACCGGCGCAAAAGAATAGAGAGCGATGAGCAGCGAGGGCCGTGGGGAGCTCAGCGGGCTTCTGGTCGCCAAGTTCAGCTGAGCTGCAGGCGCCCCCGCCTGGGAGTTGCCCCAGCCCCAAAGGAGAAAAGAAGAGAGAATGGGGTCCGAGGCCTCTGTCACGCTCTCTCTCGAGGCGCGGCGGTGAGACCGCAGGGATTTCCTGAGCAGCAAGTCGTGTGCCCCTTGGCACGCTTTATCTGCTTCGCCCGGGCCAGGAGCGTGCCTGCCCGGCTGCTGCCCGCGCCACCGGCCAATCAGCGCCGGGGCCCTGGGGCCGCGCCACGCGAGCCCGCTCCTCCCCCGCAGGGCACAGCTGGATTCCGGACAAAGGGCCGGGGTCGGGGGAGGGGAGCGCCGCTCTGTTTGCTCTCTCGAGGGCGGGCTGGGTCCCAGCAACTCTCGGTTCCTCAAAGAGCCTCGCCCAGTGAGAAGAGCCTCGTGTGGCTCTGGTCAGGCCACCTCAGACGGCTTTGCTCCTAGCCTATCTTTCCTTAGCATCTGTCCTGGAGGGGACTTTGATGCCTCTAGGGTACAATGCCTGCACGTTACACATGGGGAAATTTAGGCTTAGTGAGGGAGGTGGCTTGTCTGAAATCGCACAGGAAGATAGTGGCAAAGACAACCACGAGCTCATTGTCCTGACTAGCAGCCTGGAGAAGGGTCCAGGAATTCTAAAGGACGCCCTGCTCTCCTGGTGTTTCACTGCCTCTCTTCATCCTGGAAGACAGGGGACATCACTGAGAGAGATCCTGCCTATGTCCCTTCCATTCGCAGACCTTTTGGGGGTGTCCGAGCCTCTGCCACACCCTGAGATGCTACCTCACACTCCCCAGAGGCGCTTAGAACCCCACCCCCATAGATCCCACTCCAGAGGCAGGGGTTGGCTGTGCGGGGACCCCTCAAGCGGACATTCCATTACTACAAGCCTACTACAGCTTGTAGATAGTATCCCAGCGTTCTGGCCAGGAACCGTGACAGGAAGAGTTCTGGGAAGTGTGAGGAGGGGAGGAAGGAACCAGGAGTTCACAGTGAGCTCTTGCTTCTTTTTTTTTTTAAACGAACAAACAAAACCAAAAAACGGTCTCCTTCTGTCGCCCAGGCTGGACTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCTGGGCTCAAGCTATCCTCCCACTTCAGCCTTCCCAGTAGCTGAGACTACAGGCATGCGCCACTGTGCCCGGCTAATTTATTTGTATTTTTATTTTGTATGGGGTGAGGGGCGGTCTTGCTTTGTTGCCCAGGATGGTCTCGAACTCCTGGGCTCAAGCGTTCCTTTCACTTCAGTCTCCCAAGGCGCTGGGAAGCAGAGCTGCTGTGCCCCTCCCCCTCGTGTCTTTTGAACTACCACAGCGTGCAGGCACTGGGAGAAGCTGATAAACTTTTTCTCCCCTTAGTCCTCCGGTCCAATCACAGACAGACAGCAGCTGCCAGCAGTCACCTGCTCCAGCCCCCTGCCTCTGCATCACTCGGGCATCGCACA
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GGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGTAAAATATGCTCAGGGGATTTGCTAGGCCTCTAAGCACCTTGGGAAAATTCCTAGGATGCCCAGCCCAGCCGTGTTTCCGAGGACTCTGACTCTGCAATTGAATTATTACTGTATCCCTTCCCCAAGTGCAACCAACAGTTGCTCTAAAGCTAGGCTGGTGGAGTTGGGGAAAGGGCCAGCAAGTGAGAGTCAGTTGTCCTAGTTGGAGGCTTGTCTTTCTTCTAAACCACTCTTTGAAATAAGAGGAGTCATTGCCCTATATAGAAAAAAGGGAGCTGGACCAATAATTACTTAGAAGACTTCCAGCTCTCCAAACCCAATCTGCCCTGGCTCTAGCCCAGACCTCCAGAAAGAGTGTCATCCCTCTCTTTGGACAGAAGTGCTCTTCCTCAGCTGTAGTGACTGTGGCCCTCCTCTCCCCAACACACAATGGAGTCATCTTGCCAAGGCTTCTTGAAGGTCCATTTTTTTTTATTGGCTTAAAATCTCATCCAGCAATCCCTAAATAATCTAATATACAAAATATAGGCTTTTCCCTGCTGTGAAATCTCATTAATAAATACAAATGTGTAAAACAGGGGAGGGGCCATATAATTTACTGTACCAAAATTGATTTCAAAAGGCATCATATAATTTACAAACAGATTTAAAAAAAAAAGATGCGCGGTGCTCCAGGCACCTGCAGCGCAGCTCACGTTTCAGGCGCAGTTCGCAGGGAGGCTGGGGAGATGCTCCCTGGCCGGGCTAGCGCTTTCCCAGTTCACAGCCTGGTCTTCCGCCCCGGGAGGGCAATGGCTCCGAAAAGTGCACGAGGAGAAGGCAGAGGGTCGCCTTCGTGGCTTTAAGGCAGAGTGAGGCGCCCTGAAATCCCGGACCTGATTGGGAGTAGAGCAGATCGGCAGCGTCTTTGGAGCAAGGCAAGGGGAGTAAGCGCTGAGAGACCAAACATTGGATTGAATCACATTGGAGGAGGGGTGGTAAGAGACTGAGAGGCAGACAGACTTGAGTGAGGGTAGGGCGACCCAAGACGGTGGGCGGCTCCGGCCGGGTAGTGCTACCATTCTAGTATTCTTTGAATGAGATTATGGGGTGGTGGCAGAGAGGAGGCCTAAAATGAGCGCACTTTGCAATGCCCACTTCGCGCGGGCAGCAGCAAGGGTTGCGTGCGTTGGCGCGGCTCGGAGGGCCGGGGAATGAACCCAGCCTGCCGCCCCCGTGGAGGCCTGGGCCGGCCAGGGGTCAGCCAGGGAGAAGCAGAAGGAACAAGTGCTTTTGAGGGCCGCCGCCGTCGGCCACCCTCTACGGCTCCCGGCTCCCTCCCTCTCCCTTACCCTTAGCACCCACAGCCCAGCGACAGACAGGTCCTTTCACAGAAAATCTGAGAAAGCCAGACTGCCTGGGCTCAAGCAGGCGGAAAAGGTGGCCCCCAGCAGCCCGGGTCGCTCCTCCAGCGACGCGGCGGGACTCAGGCTGCCAGCCTGGGAGACTGGGGAGTAGAGGGACCCCCAGTCCCCGGGGGAACCGCCTGGGCTGCCCAGCTCCCCGCAGTGCGGCGCCGGCGGCTCCAGCGCGTACAAGCTGTGGTCCGCTATGCGCAGCGTTTGAGTCAGCGCCCAGATGTAGTTGTGGGCGAAGCGCAGCGTCTCGATCTTGGTGAGCTTCGCGTCGTCTGGGAAGGTGGGCAGGACACCGCTCAGGGCGTCCAGTGCCGAGTTGAGGTTGTGCATTCGATTGCGCTCGCGGTCGTTGGCCTTCTTTCGCCGACTCCGTCGCTGCTTGCTCAGTGCCAACTCGCTCTTAGGCCGGCTGCGTCCCCCGCGCCGTGCCCGGAGCTTCCTCGGGGCCCCTCGGCAGCCTCCCTCTTCCGCCTCTGCGCAGTTCCCCCGTGTGCGAGTGGGGCTGGGCGGGGCGGACGTGGGGCAGGTCACTTCGTCTTCCGAGGCTCTGGGGAAGGACCGCTCCGTCTCACGGGTCACTTGGACAGTGGGCGCACCCGAGGGTTGAGGCGTCATCCTACGGCGGGGTCAGAGGGAAGGGTAAGTTTGAGTCCGTCACTGGGCGCAGTCCGCGATTCCGAGGCTAGGTGGGAAAAAACAAAAACAGCCATCCTCCCAGCCCCCGCTGGGTCAGAGGATCCCTCTTTCCCCTGCCCGTCCCTCGGAGGCCTCCAAATATTACCTTTCTACCGGCGCAAAAGAATAGAGAGCGATGAGCAGCGAGGGCCGTGGGGAGCTCAGCGGGCTTCTGGTCGCCAAGTTCAGCTGAGCTGCAGGCGCCCCCGCCTGGGAGTTGCCCCAGCCCCAAAGGAGAAAAGAAGAGAGAATGGGGTCCGAGGCCTCTGTCACGCTCTCTCTCGAGGCGCGGCGGTGAGACCGCAGGGATTTCCTGAGCAGCAAGTCGTGTGCCCCTTGGCACGCTTTATCTGCTTCGCCCGGGCCAGGAGCGTGCCTGCCCGGCTGCTGCCCGCGCCACCGGCCAATCAGCGCCGGGGCCCTGGGGCCGCGCCACGCGAGCCCGCTCCTCCCCCGCAGGGCACAGCTGGATTCCGGACAAAGGGCCGGGGTCGGGGGAGGGGAGCGCCGCTCTGTTTGCTCTCTCGAGGGCGGGCTGGGTCCCAGCAACTCTCGGTTCCTCAAAGAGCCTCGCCCAGTGAGAAGAGCCTCGTGTGGCTCTGGTCAGGCCACCTCAGACGGCTTTGCTCCTAGCCTATCTTTCCTTAGCATCTGTCCTGGAGGGGACTTTGATGCCTCTAGGGTACAATGCCTGCACGTTACACATGGGGAAATTTAGGCTTAGTGAGGGAGGTGGCTTGTCTGAAATCGCACAGGAAGATAGTGGCAAAGACAACCACGAGCTCATTGTCCTGACTAGCAGCCTGGAGAAGGGTCCAGGAATTCTAAAGGACGCCCTGCTCTCCTGGTGTTTCACTGCCTCTCTTCATCCTGGAAGACAGGGGACATCACTGAGAGAGATCCTGCCTATGTCCCTTCCATTCGCAGACCTTTTGGGGGTGTCCGAGCCTCTGCCACACCCTGAGATGCTACCTCACACTCCCCAGAGGCGCTTAGAACCCCACCCCCATAGATCCCACTCCAGAGGCAGGGGTTGGCTGTGCGGGGACCCCTCAAGCGGACATTCCATTACTACAAGCCTACTACAGCTTGTAGATAGTATCCCAGCGTTCTGGCCAGGAACCGTGACAGGAAGAGTTCTGGGAAGTGTGAGGAGGGGAGGAAGGAACCAGGAGTTCACAGTGAGCTCTTGCTTCTTTTTTTTTTTAAACGAACAAACAAAACCAAAAAACGGTCTCCTTCTGTCGCCCAGGCTGGACTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCTGGGCTCAAGCTATCCTCCCACTTCAGCCTTCCCAGTAGCTGAGACTACAGGCATGCGCCACTGTGCCCGGCTAATTTATTTGTATTTTTATTTTGTATGGGGTGAGGGGCGGTCTTGCTTTGTTGCCCAGGATGGTCTCGAACTCCTGGGCTCAAGCGTTCCTTTCACTTCAGTCTCCCAAGGCGCTGGGAAGCAGAGCTGCTGTGCCCCTCCCCCTCGTGTCTTTTGAACTACCACAGCGTGCAGGCACTGGGAGAAGCTGATAAACTTTTTCTCCCCTTAGTCCTCCGGTCCAATCACAGACAGACAGCAGCTGCCAGCAGTCACCTGCTCCAGCCCCCTGCCTCTGCATCACTCGGGCATCGCACA
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Task1_train_13954
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A variant on Chromosome 10 in gene NEUROG3 (neurogenin 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; NEUROG3-related disorder
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GGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGTAAAATATGCTCAGGGGATTTGCTAGGCCTCTAAGCACCTTGGGAAAATTCCTAGGATGCCCAGCCCAGCCGTGTTTCCGAGGACTCTGACTCTGCAATTGAATTATTACTGTATCCCTTCCCCAAGTGCAACCAACAGTTGCTCTAAAGCTAGGCTGGTGGAGTTGGGGAAAGGGCCAGCAAGTGAGAGTCAGTTGTCCTAGTTGGAGGCTTGTCTTTCTTCTAAACCACTCTTTGAAATAAGAGGAGTCATTGCCCTATATAGAAAAAAGGGAGCTGGACCAATAATTACTTAGAAGACTTCCAGCTCTCCAAACCCAATCTGCCCTGGCTCTAGCCCAGACCTCCAGAAAGAGTGTCATCCCTCTCTTTGGACAGAAGTGCTCTTCCTCAGCTGTAGTGACTGTGGCCCTCCTCTCCCCAACACACAATGGAGTCATCTTGCCAAGGCTTCTTGAAGGTCCATTTTTTTTTATTGGCTTAAAATCTCATCCAGCAATCCCTAAATAATCTAATATACAAAATATAGGCTTTTCCCTGCTGTGAAATCTCATTAATAAATACAAATGTGTAAAACAGGGGAGGGGCCATATAATTTACTGTACCAAAATTGATTTCAAAAGGCATCATATAATTTACAAACAGATTTAAAAAAAAAAGATGCGCGGTGCTCCAGGCACCTGCAGCGCAGCTCACGTTTCAGGCGCAGTTCGCAGGGAGGCTGGGGAGATGCTCCCTGGCCGGGCTAGCGCTTTCCCAGTTCACAGCCTGGTCTTCCGCCCCGGGAGGGCAATGGCTCCGAAAAGTGCACGAGGAGAAGGCAGAGGGTCGCCTTCGTGGCTTTAAGGCAGAGTGAGGCGCCCTGAAATCCCGGACCTGATTGGGAGTAGAGCAGATCGGCAGCGTCTTTGGAGCAAGGCAAGGGGAGTAAGCGCTGAGAGACCAAACATTGGATTGAATCACATTGGAGGAGGGGTGGTAAGAGACTGAGAGGCAGACAGACTTGAGTGAGGGTAGGGCGACCCAAGACGGTGGGCGGCTCCGGCCGGGTAGTGCTACCATTCTAGTATTCTTTGAATGAGATTATGGGGTGGTGGCAGAGAGGAGGCCTAAAATGAGCGCACTTTGCAATGCCCACTTCGCGCGGGCAGCAGCAAGGGTTGCGTGCGTTGGCGCGGCTCGGAGGGCCGGGGAATGAACCCAGCCTGCCGCCCCCGTGGAGGCCTGGGCCGGCCAGGGGTCAGCCAGGGAGAAGCAGAAGGAACAAGTGCTTTTGAGGGCCGCCGCCGTCGGCCACCCTCTACGGCTCCCGGCTCCCTCCCTCTCCCTTACCCTTAGCACCCACAGCCCAGCGACAGACAGGTCCTTTCACAGAAAATCTGAGAAAGCCAGACTGCCTGGGCTCAAGCAGGCGGAAAAGGTGGCCCCCAGCAGCCCGGGTCGCTCCTCCAGCGACGCGGCGGGACTCAGGCTGCCAGCCTGGGAGACTGGGGAGTAGAGGGACCCCCAGTCCCCGGGGGAACCGCCTGGGCTGCCCAGCTCCCCGCAGTGCGGCGCCGGCGGCTCCAGCGCGTACAAGCTGTGGTCCGCTATGCGCAGCGTTTGAGTCAGCGCCCAGATGTAGTTGTGGGCGAAGCGCAGCGTCTCGATCTTGGTGAGCTTCGCGTCGTCTGGGAAGGTGGGCAGGACACCGCGCAGGGCGTCCAGTGCCGAGTTGAGGTTGTGCATTCGATTGCGCTCGCGGTCGTTGGCCTTCTTTCGCCGACTCCGTCGCTGCTTGCTCAGTGCCAACTCGCTCTTAGGCCGGCTGCGTCCCCCGCGCCGTGCCCGGAGCTTCCTCGGGGCCCCTCGGCAGCCTCCCTCTTCCGCCTCTGCGCAGTTCCCCCGTGTGCGAGTGGGGCTGGGCGGGGCGGACGTGGGGCAGGTCACTTCGTCTTCCGAGGCTCTGGGGAAGGACCGCTCCGTCTCACGGGTCACTTGGACAGTGGGCGCACCCGAGGGTTGAGGCGTCATCCTACGGCGGGGTCAGAGGGAAGGGTAAGTTTGAGTCCGTCACTGGGCGCAGTCCGCGATTCCGAGGCTAGGTGGGAAAAAACAAAAACAGCCATCCTCCCAGCCCCCGCTGGGTCAGAGGATCCCTCTTTCCCCTGCCCGTCCCTCGGAGGCCTCCAAATATTACCTTTCTACCGGCGCAAAAGAATAGAGAGCGATGAGCAGCGAGGGCCGTGGGGAGCTCAGCGGGCTTCTGGTCGCCAAGTTCAGCTGAGCTGCAGGCGCCCCCGCCTGGGAGTTGCCCCAGCCCCAAAGGAGAAAAGAAGAGAGAATGGGGTCCGAGGCCTCTGTCACGCTCTCTCTCGAGGCGCGGCGGTGAGACCGCAGGGATTTCCTGAGCAGCAAGTCGTGTGCCCCTTGGCACGCTTTATCTGCTTCGCCCGGGCCAGGAGCGTGCCTGCCCGGCTGCTGCCCGCGCCACCGGCCAATCAGCGCCGGGGCCCTGGGGCCGCGCCACGCGAGCCCGCTCCTCCCCCGCAGGGCACAGCTGGATTCCGGACAAAGGGCCGGGGTCGGGGGAGGGGAGCGCCGCTCTGTTTGCTCTCTCGAGGGCGGGCTGGGTCCCAGCAACTCTCGGTTCCTCAAAGAGCCTCGCCCAGTGAGAAGAGCCTCGTGTGGCTCTGGTCAGGCCACCTCAGACGGCTTTGCTCCTAGCCTATCTTTCCTTAGCATCTGTCCTGGAGGGGACTTTGATGCCTCTAGGGTACAATGCCTGCACGTTACACATGGGGAAATTTAGGCTTAGTGAGGGAGGTGGCTTGTCTGAAATCGCACAGGAAGATAGTGGCAAAGACAACCACGAGCTCATTGTCCTGACTAGCAGCCTGGAGAAGGGTCCAGGAATTCTAAAGGACGCCCTGCTCTCCTGGTGTTTCACTGCCTCTCTTCATCCTGGAAGACAGGGGACATCACTGAGAGAGATCCTGCCTATGTCCCTTCCATTCGCAGACCTTTTGGGGGTGTCCGAGCCTCTGCCACACCCTGAGATGCTACCTCACACTCCCCAGAGGCGCTTAGAACCCCACCCCCATAGATCCCACTCCAGAGGCAGGGGTTGGCTGTGCGGGGACCCCTCAAGCGGACATTCCATTACTACAAGCCTACTACAGCTTGTAGATAGTATCCCAGCGTTCTGGCCAGGAACCGTGACAGGAAGAGTTCTGGGAAGTGTGAGGAGGGGAGGAAGGAACCAGGAGTTCACAGTGAGCTCTTGCTTCTTTTTTTTTTTAAACGAACAAACAAAACCAAAAAACGGTCTCCTTCTGTCGCCCAGGCTGGACTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCTGGGCTCAAGCTATCCTCCCACTTCAGCCTTCCCAGTAGCTGAGACTACAGGCATGCGCCACTGTGCCCGGCTAATTTATTTGTATTTTTATTTTGTATGGGGTGAGGGGCGGTCTTGCTTTGTTGCCCAGGATGGTCTCGAACTCCTGGGCTCAAGCGTTCCTTTCACTTCAGTCTCCCAAGGCGCTGGGAAGCAGAGCTGCTGTGCCCCTCCCCCTCGTGTCTTTTGAACTACCACAGCGTGCAGGCACTGGGAGAAGCTGATAAACTTTTTCTCCCCTTAGTCCTCCGGTCCAATCACAGACAGACAGCAGCTGCCAGCAGTCACCTGCTCCAGCCCCCTGCCTCTGCATCACTCGGGCATCGCACA
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GGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGTAAAATATGCTCAGGGGATTTGCTAGGCCTCTAAGCACCTTGGGAAAATTCCTAGGATGCCCAGCCCAGCCGTGTTTCCGAGGACTCTGACTCTGCAATTGAATTATTACTGTATCCCTTCCCCAAGTGCAACCAACAGTTGCTCTAAAGCTAGGCTGGTGGAGTTGGGGAAAGGGCCAGCAAGTGAGAGTCAGTTGTCCTAGTTGGAGGCTTGTCTTTCTTCTAAACCACTCTTTGAAATAAGAGGAGTCATTGCCCTATATAGAAAAAAGGGAGCTGGACCAATAATTACTTAGAAGACTTCCAGCTCTCCAAACCCAATCTGCCCTGGCTCTAGCCCAGACCTCCAGAAAGAGTGTCATCCCTCTCTTTGGACAGAAGTGCTCTTCCTCAGCTGTAGTGACTGTGGCCCTCCTCTCCCCAACACACAATGGAGTCATCTTGCCAAGGCTTCTTGAAGGTCCATTTTTTTTTATTGGCTTAAAATCTCATCCAGCAATCCCTAAATAATCTAATATACAAAATATAGGCTTTTCCCTGCTGTGAAATCTCATTAATAAATACAAATGTGTAAAACAGGGGAGGGGCCATATAATTTACTGTACCAAAATTGATTTCAAAAGGCATCATATAATTTACAAACAGATTTAAAAAAAAAAGATGCGCGGTGCTCCAGGCACCTGCAGCGCAGCTCACGTTTCAGGCGCAGTTCGCAGGGAGGCTGGGGAGATGCTCCCTGGCCGGGCTAGCGCTTTCCCAGTTCACAGCCTGGTCTTCCGCCCCGGGAGGGCAATGGCTCCGAAAAGTGCACGAGGAGAAGGCAGAGGGTCGCCTTCGTGGCTTTAAGGCAGAGTGAGGCGCCCTGAAATCCCGGACCTGATTGGGAGTAGAGCAGATCGGCAGCGTCTTTGGAGCAAGGCAAGGGGAGTAAGCGCTGAGAGACCAAACATTGGATTGAATCACATTGGAGGAGGGGTGGTAAGAGACTGAGAGGCAGACAGACTTGAGTGAGGGTAGGGCGACCCAAGACGGTGGGCGGCTCCGGCCGGGTAGTGCTACCATTCTAGTATTCTTTGAATGAGATTATGGGGTGGTGGCAGAGAGGAGGCCTAAAATGAGCGCACTTTGCAATGCCCACTTCGCGCGGGCAGCAGCAAGGGTTGCGTGCGTTGGCGCGGCTCGGAGGGCCGGGGAATGAACCCAGCCTGCCGCCCCCGTGGAGGCCTGGGCCGGCCAGGGGTCAGCCAGGGAGAAGCAGAAGGAACAAGTGCTTTTGAGGGCCGCCGCCGTCGGCCACCCTCTACGGCTCCCGGCTCCCTCCCTCTCCCTTACCCTTAGCACCCACAGCCCAGCGACAGACAGGTCCTTTCACAGAAAATCTGAGAAAGCCAGACTGCCTGGGCTCAAGCAGGCGGAAAAGGTGGCCCCCAGCAGCCCGGGTCGCTCCTCCAGCGACGCGGCGGGACTCAGGCTGCCAGCCTGGGAGACTGGGGAGTAGAGGGACCCCCAGTCCCCGGGGGAACCGCCTGGGCTGCCCAGCTCCCCGCAGTGCGGCGCCGGCGGCTCCAGCGCGTACAAGCTGTGGTCCGCTATGCGCAGCGTTTGAGTCAGCGCCCAGATGTAGTTGTGGGCGAAGCGCAGCGTCTCGATCTTGGTGAGCTTCGCGTCGTCTGGGAAGGTGGGCAGGACACCGCTCAGGGCGTCCAGTGCCGAGTTGAGGTTGTGCATTCGATTGCGCTCGCGGTCGTTGGCCTTCTTTCGCCGACTCCGTCGCTGCTTGCTCAGTGCCAACTCGCTCTTAGGCCGGCTGCGTCCCCCGCGCCGTGCCCGGAGCTTCCTCGGGGCCCCTCGGCAGCCTCCCTCTTCCGCCTCTGCGCAGTTCCCCCGTGTGCGAGTGGGGCTGGGCGGGGCGGACGTGGGGCAGGTCACTTCGTCTTCCGAGGCTCTGGGGAAGGACCGCTCCGTCTCACGGGTCACTTGGACAGTGGGCGCACCCGAGGGTTGAGGCGTCATCCTACGGCGGGGTCAGAGGGAAGGGTAAGTTTGAGTCCGTCACTGGGCGCAGTCCGCGATTCCGAGGCTAGGTGGGAAAAAACAAAAACAGCCATCCTCCCAGCCCCCGCTGGGTCAGAGGATCCCTCTTTCCCCTGCCCGTCCCTCGGAGGCCTCCAAATATTACCTTTCTACCGGCGCAAAAGAATAGAGAGCGATGAGCAGCGAGGGCCGTGGGGAGCTCAGCGGGCTTCTGGTCGCCAAGTTCAGCTGAGCTGCAGGCGCCCCCGCCTGGGAGTTGCCCCAGCCCCAAAGGAGAAAAGAAGAGAGAATGGGGTCCGAGGCCTCTGTCACGCTCTCTCTCGAGGCGCGGCGGTGAGACCGCAGGGATTTCCTGAGCAGCAAGTCGTGTGCCCCTTGGCACGCTTTATCTGCTTCGCCCGGGCCAGGAGCGTGCCTGCCCGGCTGCTGCCCGCGCCACCGGCCAATCAGCGCCGGGGCCCTGGGGCCGCGCCACGCGAGCCCGCTCCTCCCCCGCAGGGCACAGCTGGATTCCGGACAAAGGGCCGGGGTCGGGGGAGGGGAGCGCCGCTCTGTTTGCTCTCTCGAGGGCGGGCTGGGTCCCAGCAACTCTCGGTTCCTCAAAGAGCCTCGCCCAGTGAGAAGAGCCTCGTGTGGCTCTGGTCAGGCCACCTCAGACGGCTTTGCTCCTAGCCTATCTTTCCTTAGCATCTGTCCTGGAGGGGACTTTGATGCCTCTAGGGTACAATGCCTGCACGTTACACATGGGGAAATTTAGGCTTAGTGAGGGAGGTGGCTTGTCTGAAATCGCACAGGAAGATAGTGGCAAAGACAACCACGAGCTCATTGTCCTGACTAGCAGCCTGGAGAAGGGTCCAGGAATTCTAAAGGACGCCCTGCTCTCCTGGTGTTTCACTGCCTCTCTTCATCCTGGAAGACAGGGGACATCACTGAGAGAGATCCTGCCTATGTCCCTTCCATTCGCAGACCTTTTGGGGGTGTCCGAGCCTCTGCCACACCCTGAGATGCTACCTCACACTCCCCAGAGGCGCTTAGAACCCCACCCCCATAGATCCCACTCCAGAGGCAGGGGTTGGCTGTGCGGGGACCCCTCAAGCGGACATTCCATTACTACAAGCCTACTACAGCTTGTAGATAGTATCCCAGCGTTCTGGCCAGGAACCGTGACAGGAAGAGTTCTGGGAAGTGTGAGGAGGGGAGGAAGGAACCAGGAGTTCACAGTGAGCTCTTGCTTCTTTTTTTTTTTAAACGAACAAACAAAACCAAAAAACGGTCTCCTTCTGTCGCCCAGGCTGGACTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCTGGGCTCAAGCTATCCTCCCACTTCAGCCTTCCCAGTAGCTGAGACTACAGGCATGCGCCACTGTGCCCGGCTAATTTATTTGTATTTTTATTTTGTATGGGGTGAGGGGCGGTCTTGCTTTGTTGCCCAGGATGGTCTCGAACTCCTGGGCTCAAGCGTTCCTTTCACTTCAGTCTCCCAAGGCGCTGGGAAGCAGAGCTGCTGTGCCCCTCCCCCTCGTGTCTTTTGAACTACCACAGCGTGCAGGCACTGGGAGAAGCTGATAAACTTTTTCTCCCCTTAGTCCTCCGGTCCAATCACAGACAGACAGCAGCTGCCAGCAGTCACCTGCTCCAGCCCCCTGCCTCTGCATCACTCGGGCATCGCACA
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Task1_train_13955
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The gene NEUROG3 (neurogenin 3) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Congenital malabsorptive diarrhea 4
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CAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGTAAAATATGCTCAGGGGATTTGCTAGGCCTCTAAGCACCTTGGGAAAATTCCTAGGATGCCCAGCCCAGCCGTGTTTCCGAGGACTCTGACTCTGCAATTGAATTATTACTGTATCCCTTCCCCAAGTGCAACCAACAGTTGCTCTAAAGCTAGGCTGGTGGAGTTGGGGAAAGGGCCAGCAAGTGAGAGTCAGTTGTCCTAGTTGGAGGCTTGTCTTTCTTCTAAACCACTCTTTGAAATAAGAGGAGTCATTGCCCTATATAGAAAAAAGGGAGCTGGACCAATAATTACTTAGAAGACTTCCAGCTCTCCAAACCCAATCTGCCCTGGCTCTAGCCCAGACCTCCAGAAAGAGTGTCATCCCTCTCTTTGGACAGAAGTGCTCTTCCTCAGCTGTAGTGACTGTGGCCCTCCTCTCCCCAACACACAATGGAGTCATCTTGCCAAGGCTTCTTGAAGGTCCATTTTTTTTTATTGGCTTAAAATCTCATCCAGCAATCCCTAAATAATCTAATATACAAAATATAGGCTTTTCCCTGCTGTGAAATCTCATTAATAAATACAAATGTGTAAAACAGGGGAGGGGCCATATAATTTACTGTACCAAAATTGATTTCAAAAGGCATCATATAATTTACAAACAGATTTAAAAAAAAAAGATGCGCGGTGCTCCAGGCACCTGCAGCGCAGCTCACGTTTCAGGCGCAGTTCGCAGGGAGGCTGGGGAGATGCTCCCTGGCCGGGCTAGCGCTTTCCCAGTTCACAGCCTGGTCTTCCGCCCCGGGAGGGCAATGGCTCCGAAAAGTGCACGAGGAGAAGGCAGAGGGTCGCCTTCGTGGCTTTAAGGCAGAGTGAGGCGCCCTGAAATCCCGGACCTGATTGGGAGTAGAGCAGATCGGCAGCGTCTTTGGAGCAAGGCAAGGGGAGTAAGCGCTGAGAGACCAAACATTGGATTGAATCACATTGGAGGAGGGGTGGTAAGAGACTGAGAGGCAGACAGACTTGAGTGAGGGTAGGGCGACCCAAGACGGTGGGCGGCTCCGGCCGGGTAGTGCTACCATTCTAGTATTCTTTGAATGAGATTATGGGGTGGTGGCAGAGAGGAGGCCTAAAATGAGCGCACTTTGCAATGCCCACTTCGCGCGGGCAGCAGCAAGGGTTGCGTGCGTTGGCGCGGCTCGGAGGGCCGGGGAATGAACCCAGCCTGCCGCCCCCGTGGAGGCCTGGGCCGGCCAGGGGTCAGCCAGGGAGAAGCAGAAGGAACAAGTGCTTTTGAGGGCCGCCGCCGTCGGCCACCCTCTACGGCTCCCGGCTCCCTCCCTCTCCCTTACCCTTAGCACCCACAGCCCAGCGACAGACAGGTCCTTTCACAGAAAATCTGAGAAAGCCAGACTGCCTGGGCTCAAGCAGGCGGAAAAGGTGGCCCCCAGCAGCCCGGGTCGCTCCTCCAGCGACGCGGCGGGACTCAGGCTGCCAGCCTGGGAGACTGGGGAGTAGAGGGACCCCCAGTCCCCGGGGGAACCGCCTGGGCTGCCCAGCTCCCCGCAGTGCGGCGCCGGCGGCTCCAGCGCGTACAAGCTGTGGTCCGCTATGCGCAGCGTTTGAGTCAGCGCCCAGATGTAGTTGTGGGCGAAGCGCAGCGTCTCGATCTTGGTGAGCTTCGCGTCGTCTGGGAAGGTGGGCAGGACACCGCGCAGGGCGTCCAGTGCCGAGTTGAGGTTGTGCATTCGATTGCGCTCGCGGTCGTTGGCCTTCTTTCGCCGACTCCGTCGCTGCTTGCTCAGTGCCAACTCGCTCTTAGGCCGGCTGCGTCCCCCGCGCCGTGCCCGGAGCTTCCTCGGGGCCCCTCGGCAGCCTCCCTCTTCCGCCTCTGCGCAGTTCCCCCGTGTGCGAGTGGGGCTGGGCGGGGCGGACGTGGGGCAGGTCACTTCGTCTTCCGAGGCTCTGGGGAAGGACCGCTCCGTCTCACGGGTCACTTGGACAGTGGGCGCACCCGAGGGTTGAGGCGTCATCCTACGGCGGGGTCAGAGGGAAGGGTAAGTTTGAGTCCGTCACTGGGCGCAGTCCGCGATTCCGAGGCTAGGTGGGAAAAAACAAAAACAGCCATCCTCCCAGCCCCCGCTGGGTCAGAGGATCCCTCTTTCCCCTGCCCGTCCCTCGGAGGCCTCCAAATATTACCTTTCTACCGGCGCAAAAGAATAGAGAGCGATGAGCAGCGAGGGCCGTGGGGAGCTCAGCGGGCTTCTGGTCGCCAAGTTCAGCTGAGCTGCAGGCGCCCCCGCCTGGGAGTTGCCCCAGCCCCAAAGGAGAAAAGAAGAGAGAATGGGGTCCGAGGCCTCTGTCACGCTCTCTCTCGAGGCGCGGCGGTGAGACCGCAGGGATTTCCTGAGCAGCAAGTCGTGTGCCCCTTGGCACGCTTTATCTGCTTCGCCCGGGCCAGGAGCGTGCCTGCCCGGCTGCTGCCCGCGCCACCGGCCAATCAGCGCCGGGGCCCTGGGGCCGCGCCACGCGAGCCCGCTCCTCCCCCGCAGGGCACAGCTGGATTCCGGACAAAGGGCCGGGGTCGGGGGAGGGGAGCGCCGCTCTGTTTGCTCTCTCGAGGGCGGGCTGGGTCCCAGCAACTCTCGGTTCCTCAAAGAGCCTCGCCCAGTGAGAAGAGCCTCGTGTGGCTCTGGTCAGGCCACCTCAGACGGCTTTGCTCCTAGCCTATCTTTCCTTAGCATCTGTCCTGGAGGGGACTTTGATGCCTCTAGGGTACAATGCCTGCACGTTACACATGGGGAAATTTAGGCTTAGTGAGGGAGGTGGCTTGTCTGAAATCGCACAGGAAGATAGTGGCAAAGACAACCACGAGCTCATTGTCCTGACTAGCAGCCTGGAGAAGGGTCCAGGAATTCTAAAGGACGCCCTGCTCTCCTGGTGTTTCACTGCCTCTCTTCATCCTGGAAGACAGGGGACATCACTGAGAGAGATCCTGCCTATGTCCCTTCCATTCGCAGACCTTTTGGGGGTGTCCGAGCCTCTGCCACACCCTGAGATGCTACCTCACACTCCCCAGAGGCGCTTAGAACCCCACCCCCATAGATCCCACTCCAGAGGCAGGGGTTGGCTGTGCGGGGACCCCTCAAGCGGACATTCCATTACTACAAGCCTACTACAGCTTGTAGATAGTATCCCAGCGTTCTGGCCAGGAACCGTGACAGGAAGAGTTCTGGGAAGTGTGAGGAGGGGAGGAAGGAACCAGGAGTTCACAGTGAGCTCTTGCTTCTTTTTTTTTTTAAACGAACAAACAAAACCAAAAAACGGTCTCCTTCTGTCGCCCAGGCTGGACTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCTGGGCTCAAGCTATCCTCCCACTTCAGCCTTCCCAGTAGCTGAGACTACAGGCATGCGCCACTGTGCCCGGCTAATTTATTTGTATTTTTATTTTGTATGGGGTGAGGGGCGGTCTTGCTTTGTTGCCCAGGATGGTCTCGAACTCCTGGGCTCAAGCGTTCCTTTCACTTCAGTCTCCCAAGGCGCTGGGAAGCAGAGCTGCTGTGCCCCTCCCCCTCGTGTCTTTTGAACTACCACAGCGTGCAGGCACTGGGAGAAGCTGATAAACTTTTTCTCCCCTTAGTCCTCCGGTCCAATCACAGACAGACAGCAGCTGCCAGCAGTCACCTGCTCCAGCCCCCTGCCTCTGCATCACTCGGGCATCGCACAGAGAGCACAAGGCAGGGACTTCCCCAGCCCCTTGG
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CAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGTAAAATATGCTCAGGGGATTTGCTAGGCCTCTAAGCACCTTGGGAAAATTCCTAGGATGCCCAGCCCAGCCGTGTTTCCGAGGACTCTGACTCTGCAATTGAATTATTACTGTATCCCTTCCCCAAGTGCAACCAACAGTTGCTCTAAAGCTAGGCTGGTGGAGTTGGGGAAAGGGCCAGCAAGTGAGAGTCAGTTGTCCTAGTTGGAGGCTTGTCTTTCTTCTAAACCACTCTTTGAAATAAGAGGAGTCATTGCCCTATATAGAAAAAAGGGAGCTGGACCAATAATTACTTAGAAGACTTCCAGCTCTCCAAACCCAATCTGCCCTGGCTCTAGCCCAGACCTCCAGAAAGAGTGTCATCCCTCTCTTTGGACAGAAGTGCTCTTCCTCAGCTGTAGTGACTGTGGCCCTCCTCTCCCCAACACACAATGGAGTCATCTTGCCAAGGCTTCTTGAAGGTCCATTTTTTTTTATTGGCTTAAAATCTCATCCAGCAATCCCTAAATAATCTAATATACAAAATATAGGCTTTTCCCTGCTGTGAAATCTCATTAATAAATACAAATGTGTAAAACAGGGGAGGGGCCATATAATTTACTGTACCAAAATTGATTTCAAAAGGCATCATATAATTTACAAACAGATTTAAAAAAAAAAGATGCGCGGTGCTCCAGGCACCTGCAGCGCAGCTCACGTTTCAGGCGCAGTTCGCAGGGAGGCTGGGGAGATGCTCCCTGGCCGGGCTAGCGCTTTCCCAGTTCACAGCCTGGTCTTCCGCCCCGGGAGGGCAATGGCTCCGAAAAGTGCACGAGGAGAAGGCAGAGGGTCGCCTTCGTGGCTTTAAGGCAGAGTGAGGCGCCCTGAAATCCCGGACCTGATTGGGAGTAGAGCAGATCGGCAGCGTCTTTGGAGCAAGGCAAGGGGAGTAAGCGCTGAGAGACCAAACATTGGATTGAATCACATTGGAGGAGGGGTGGTAAGAGACTGAGAGGCAGACAGACTTGAGTGAGGGTAGGGCGACCCAAGACGGTGGGCGGCTCCGGCCGGGTAGTGCTACCATTCTAGTATTCTTTGAATGAGATTATGGGGTGGTGGCAGAGAGGAGGCCTAAAATGAGCGCACTTTGCAATGCCCACTTCGCGCGGGCAGCAGCAAGGGTTGCGTGCGTTGGCGCGGCTCGGAGGGCCGGGGAATGAACCCAGCCTGCCGCCCCCGTGGAGGCCTGGGCCGGCCAGGGGTCAGCCAGGGAGAAGCAGAAGGAACAAGTGCTTTTGAGGGCCGCCGCCGTCGGCCACCCTCTACGGCTCCCGGCTCCCTCCCTCTCCCTTACCCTTAGCACCCACAGCCCAGCGACAGACAGGTCCTTTCACAGAAAATCTGAGAAAGCCAGACTGCCTGGGCTCAAGCAGGCGGAAAAGGTGGCCCCCAGCAGCCCGGGTCGCTCCTCCAGCGACGCGGCGGGACTCAGGCTGCCAGCCTGGGAGACTGGGGAGTAGAGGGACCCCCAGTCCCCGGGGGAACCGCCTGGGCTGCCCAGCTCCCCGCAGTGCGGCGCCGGCGGCTCCAGCGCGTACAAGCTGTGGTCCGCTATGCGCAGCGTTTGAGTCAGCGCCCAGATGTAGTTGTGGGCGAAGCGCAGCGTCTCGATCTTGGTGAGCTTCGCGTCGTCTGGGAAGGTGGGCAGGACACCGCGCAGGGCGTCCAGTGCCGAGTTGAGGTTGTGCATTGGATTGCGCTCGCGGTCGTTGGCCTTCTTTCGCCGACTCCGTCGCTGCTTGCTCAGTGCCAACTCGCTCTTAGGCCGGCTGCGTCCCCCGCGCCGTGCCCGGAGCTTCCTCGGGGCCCCTCGGCAGCCTCCCTCTTCCGCCTCTGCGCAGTTCCCCCGTGTGCGAGTGGGGCTGGGCGGGGCGGACGTGGGGCAGGTCACTTCGTCTTCCGAGGCTCTGGGGAAGGACCGCTCCGTCTCACGGGTCACTTGGACAGTGGGCGCACCCGAGGGTTGAGGCGTCATCCTACGGCGGGGTCAGAGGGAAGGGTAAGTTTGAGTCCGTCACTGGGCGCAGTCCGCGATTCCGAGGCTAGGTGGGAAAAAACAAAAACAGCCATCCTCCCAGCCCCCGCTGGGTCAGAGGATCCCTCTTTCCCCTGCCCGTCCCTCGGAGGCCTCCAAATATTACCTTTCTACCGGCGCAAAAGAATAGAGAGCGATGAGCAGCGAGGGCCGTGGGGAGCTCAGCGGGCTTCTGGTCGCCAAGTTCAGCTGAGCTGCAGGCGCCCCCGCCTGGGAGTTGCCCCAGCCCCAAAGGAGAAAAGAAGAGAGAATGGGGTCCGAGGCCTCTGTCACGCTCTCTCTCGAGGCGCGGCGGTGAGACCGCAGGGATTTCCTGAGCAGCAAGTCGTGTGCCCCTTGGCACGCTTTATCTGCTTCGCCCGGGCCAGGAGCGTGCCTGCCCGGCTGCTGCCCGCGCCACCGGCCAATCAGCGCCGGGGCCCTGGGGCCGCGCCACGCGAGCCCGCTCCTCCCCCGCAGGGCACAGCTGGATTCCGGACAAAGGGCCGGGGTCGGGGGAGGGGAGCGCCGCTCTGTTTGCTCTCTCGAGGGCGGGCTGGGTCCCAGCAACTCTCGGTTCCTCAAAGAGCCTCGCCCAGTGAGAAGAGCCTCGTGTGGCTCTGGTCAGGCCACCTCAGACGGCTTTGCTCCTAGCCTATCTTTCCTTAGCATCTGTCCTGGAGGGGACTTTGATGCCTCTAGGGTACAATGCCTGCACGTTACACATGGGGAAATTTAGGCTTAGTGAGGGAGGTGGCTTGTCTGAAATCGCACAGGAAGATAGTGGCAAAGACAACCACGAGCTCATTGTCCTGACTAGCAGCCTGGAGAAGGGTCCAGGAATTCTAAAGGACGCCCTGCTCTCCTGGTGTTTCACTGCCTCTCTTCATCCTGGAAGACAGGGGACATCACTGAGAGAGATCCTGCCTATGTCCCTTCCATTCGCAGACCTTTTGGGGGTGTCCGAGCCTCTGCCACACCCTGAGATGCTACCTCACACTCCCCAGAGGCGCTTAGAACCCCACCCCCATAGATCCCACTCCAGAGGCAGGGGTTGGCTGTGCGGGGACCCCTCAAGCGGACATTCCATTACTACAAGCCTACTACAGCTTGTAGATAGTATCCCAGCGTTCTGGCCAGGAACCGTGACAGGAAGAGTTCTGGGAAGTGTGAGGAGGGGAGGAAGGAACCAGGAGTTCACAGTGAGCTCTTGCTTCTTTTTTTTTTTAAACGAACAAACAAAACCAAAAAACGGTCTCCTTCTGTCGCCCAGGCTGGACTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTCCTGGGCTCAAGCTATCCTCCCACTTCAGCCTTCCCAGTAGCTGAGACTACAGGCATGCGCCACTGTGCCCGGCTAATTTATTTGTATTTTTATTTTGTATGGGGTGAGGGGCGGTCTTGCTTTGTTGCCCAGGATGGTCTCGAACTCCTGGGCTCAAGCGTTCCTTTCACTTCAGTCTCCCAAGGCGCTGGGAAGCAGAGCTGCTGTGCCCCTCCCCCTCGTGTCTTTTGAACTACCACAGCGTGCAGGCACTGGGAGAAGCTGATAAACTTTTTCTCCCCTTAGTCCTCCGGTCCAATCACAGACAGACAGCAGCTGCCAGCAGTCACCTGCTCCAGCCCCCTGCCTCTGCATCACTCGGGCATCGCACAGAGAGCACAAGGCAGGGACTTCCCCAGCCCCTTGG
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Task1_train_13956
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Assess the clinical impact of this variant on gene COL13A1 (collagen type XIII alpha 1 chain), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Congenital myasthenic syndrome 19
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GCTCTGCGTCACTTCTGTCACTGTAGATTAGGTGTGTCTTTTGTCTCTTCTAGAGCTTCATGTAAATGGAATTAAACAGTATCTGTGCCTGGATGCTTCTGCTCAGCAGAATGTGTTTGAGATGCACCCTTGTCATCAGCACTTGGTTCTTTTTCCCTGCTGAGTAGTATTTCATTGTATGGATGTACCATGCATTCCCCTGTTGATGGGCATTTGGGTTGTTTTCTGGAGATATTTTTAAGTCATTATTGGGGAAGGTCAGACTTAGCTTCTTGGAGCCCAAAGGGCGACCAGAGATGCCCTAGAGAGAAGGAGAGGGTATTGGACATGGCTCTCCGAACCCCACCTCCACTTCAACCCAGTCACACTTGGTGCTTATATGTTTTGCATTTTGGGTTCCCCATGTTATTTTCTTTGCAAAAAATGCATCTCTATCACTGGAGAAAGGTCTGTAAACAACTTATCTGTACAAGCCAGCCTCCACATATAGCCCTCAGGGCACAGGCTACCCTCCTCCATGGGACAGTTCTTCCATGTGTCTTTCCTTTCTCTCCTAGGGGCCTCCTGGTCTTCCTGGGCAAATTGGCCCACCTGGAGCTCCAGGGATTCCAGGCCAGAAGGTAAATCTTATCTTGACAAAGGGGGTGAAGACTTTGCAAGGGCATCGACCCCAGGGCTTCCCCTCCCCCTGTGACCCTCTCATCTTCCCAGCACTACCACCATACCCTCCTGCTGCTCCAAGGCACCAGGGGACCCGCCCACCCACCTCCCAGCTGCTGTGGCTCTTCTAGCCAACCCTTGCCATCTGCTTGGGCTCCTGTAATTCACAGAGCCTTCTGATGCTGTGGGGCCTGGGTCTAGACACACCCCTGCCCTTGCCCCAACCAGACCCACAGCGGGAGTGAGGACCCCATCAGGGACCTCGGCATCTGAGCCCCTCCCCAATCCTCCCACCTCACTCCCTGCCCTTGCTTTCCTTTTACACTCCACACACCTGTGTTTTTCTCAGAAGGTCTGCCCCTCTGTCTCCCACTCATGAGGTCCTCTCCCCTGCAAGTCTTTTTCCATCTTACCTTTCTTTCAAAGCCCTTCTCATCTTTCAAGCCCAATTCAATAGACCACCTCCTCCTTGAAGCCTCCCTGATCTATCAGGCAGAATTCCCTGCCCTTTCCTCTGCTTCTCTGGGTAGGACCTACATCATTTTGCCACCTCCCTTAACTCCCCACCTGACCCAAAGAAGGGGCTTGGTTTGTGTGAAGATGAAAGGAGCACCCTGTGGAGAGCCAGGGCAGGGGTTCTGCATTCAGGGGAGACAGGAAGGCAAGAACCCTTCTGCAAGGGAGCCAAGGGCGCCTAGGGCTCCCAGAGGCAGCAGTGGGAGGTTGTGGCTAAAACATGGACATGGAGCCAGAGCGCCCAGACTGGGATCCTGGCTCCTCAGTTCACTAACTGTGGGCCTCAGGCACACAACTCTGTGCTTTGGAGTCCTGTCTGTAGAAGAGAGGCAATGCAAATTCATACCTCCCAGCAACACAGTTAGAATTAAATGAGCAAACTCTATGGGAAAGTGTGGAGTGGGATGCCGGGTGCACTAAGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAGGAGGTCGGGCAGGAAGGCTCTAGAATTGGCCCTGGTGTGAGCCCAGTGGGCAAGGGAAGGGGAGATGGGGGGGGGCAGGGAGAGGGGCCCACCCTGCAAGCCCCAGGAGGAGCCAGGCAGACCCAGGCTGGGCTGTCTCTGCCTGCCCCAGACAAGCACCAAAGAGCCAAGGCCTTTGGACTTTTCTACTCTCTCTCCCTCTCTCCTCTTTTCTCCATTAATGTGTCTAAGAAGCGTTTTTGGTATTTTCTAAAGGGACCTCGCGGTAAACCAGGAGACATGGGCCCTCCTGGTCCCCAAGGCCCCCCAGGAAAGGATGGACCTCCAGGAGTGAAGGGAGAAAACGGGCACCCAGGGAGCCCAGGAGAGAAGGGGGAAAAAGGGGAGACAGGACAAGCAGGCTCACCGGTGAGTGGCAGGGCTGGCTGCCCTTCCGTGCATACACCACTCCCAAGCATGACGCCAGCTTTGCAGGGCTTTGCACTTTGCATGATGTGAGCTGCTGCCTGGGCTAGAAACCTGGGGCCAGGGCTTAGGGGTGGAGGATTCACTCAGCTTCCCCTCAAGTCACTCACTTTATGAAGGCCAGTTTCCCGACTCAGGAGACCTGAGTTGTGCTCTGTCATCTGTATCCTTGGGAAAGCCACTCACTGTTGCAGAGTCTCCGTCTCCTCATCTCTAAACTGGCGATAATAATGTTTTCCCTGGATACCTCACTGGATTGTTGGGAAAGAGATGAAGACATGGTTTAGAGCTGCCTCTTTGGAAAGTGTACAGAAGCCCTATACCCGGGAGAGGCTGCATGTACAGAAACGGGGCCTTCGCCCAGTCCACTAGGCTGCTAACTTGACTTAGGGGCCTTCTCTGGGTCTCAGGGGTTTCCATCTGTGAAATGGGTGCCATCCTAGACACCTACCCTTGGAGCAAGGGAGCCACATCCTGTGCAGGCCACAGTTGGTCACACTCAGCAAGACCACCTTGAGCTCCACTAACAGAAATCATTGTCAGTCTGTAGGGTCTAGATGGCCCAACTGGGGAGAGGAGAACATGGTGGCCAGAGCAGACCCAGAGTGGCAGGATTGCCTAATCCAGCTGGGCTCCTGAGGTTTACAGTGAAGCCAGAGGGCTGGGTGTCAAGGTTGCCTGCAGGCAGCCACAGATGAGGGTCCTCCTGGGGGCCACCAGCCTAGTGGGTGCCTGACACTGTGACGAGGCTGCCCTAATCCCAAGCCTGCCGACCCAGCCTGGGAGCAGGCAGGGAGGGTCCTCTTAACAAGCAGCTACTTCATTTGAGTGTAAACAGGAGTTGCATCTTCCTTGGCTCACGGTATGATGGCCTCTAGGAGCACCAACCTAGTTCGACGGTGCTAGAATCTTGGTCTCAGAATTCTCCTCTAGGAAGTGGAAAGAGCCTCAGAGGTCAACCAGTCCCAAGTCTGACCCAGTGCAGGACTCCTCACTCAACCGGCACAGGCAGGCAGCTCACTGCCTCCAGACCTGTCCACTGCACCATGGGGCAGCCCCAGGATGGAGGGAGCATTCCTGGATATGGTGTGGAAGCTCCCTTGTCAGCCTCCCCGAGTTGACCCCTCAGAGCCTCTGGCCTCTGGAGCCATATTTATTATCTATTGCTGCATAACTAATCACTGCAAACGTAGCGGCCTAAGAAAATACACACTTATTGGCACATAGTTTCTGTGGGTCAGGAATTCAGGCACATCCTAGTTGGGTCCTCTGCCCATGGTCTCATGAGGCTGCAATTAATGTCTCAGCCAACTGTATTCTCATCTGGAGCTAGGGATCCCCTTCCAAGCTACTGGTATTGGCAGAATCCAGTTCCTTGCTGGAACAGAACTCAGCTCCTAGAGGCCACCTACAGTTCCTGCCACCTGCGCCCCTGCCCTCCCCACCTCCCGCAGAGTAGACAGTTCACATTATAGCAACTGGCATCTTCAAGGACAAGGCCAGCAGTAGGGTCTCTCTAGTGTCTAGTGCTAGCAAGACAGAGCTGTGTGCACGTGTGTTTGTGTGTTCATGTAACATATTTGTAACATAATCTTAATATATGTTATATGTCACCATCTGTATGACATGTATGTTATAATCTGCAACATAATCATAGAAGTGAGGTCCCACCACCTTTGCCATGTGCCTTACTCCACGGCTAAGAAACAAGTCACAGGTCACCCTAAGGCCTGTACGCTGCAGAGTCCACAGAGAGTATCAGCCTCTCCTCCCCTGTACTAGAGCCTCAGATTCTGTCCTGCAGGCTGACACCTCCACATCCTCCATGGTGTTCCTTGTTGACCCCTAGACCAGTCACGTCCCAGT
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GCTCTGCGTCACTTCTGTCACTGTAGATTAGGTGTGTCTTTTGTCTCTTCTAGAGCTTCATGTAAATGGAATTAAACAGTATCTGTGCCTGGATGCTTCTGCTCAGCAGAATGTGTTTGAGATGCACCCTTGTCATCAGCACTTGGTTCTTTTTCCCTGCTGAGTAGTATTTCATTGTATGGATGTACCATGCATTCCCCTGTTGATGGGCATTTGGGTTGTTTTCTGGAGATATTTTTAAGTCATTATTGGGGAAGGTCAGACTTAGCTTCTTGGAGCCCAAAGGGCGACCAGAGATGCCCTAGAGAGAAGGAGAGGGTATTGGACATGGCTCTCCGAACCCCACCTCCACTTCAACCCAGTCACACTTGGTGCTTATATGTTTTGCATTTTGGGTTCCCCATGTTATTTTCTTTGCAAAAAATGCATCTCTATCACTGGAGAAAGGTCTGTAAACAACTTATCTGTACAAGCCAGCCTCCACATATAGCCCTCAGGGCACAGGCTACCCTCCTCCATGGGACAGTTCTTCCATGTGTCTTTCCTTTCTCTCCTAGGGGCCTCCTGGTCTTCCTGGGCAAATTGGCCCACCTGGAGCTCCAGGGATTCCAGGCCAGAAGGTAAATCTTATCTTGACAAAGGGGGTGAAGACTTTGCAAGGGCATCGACCCCAGGGCTTCCCCTCCCCCTGTGACCCTCTCATCTTCCCAGCACTACCACCATACCCTCCTGCTGCTCCAAGGCACCAGGGGACCCGCCCACCCACCTCCCAGCTGCTGTGGCTCTTCTAGCCAACCCTTGCCATCTGCTTGGGCTCCTGTAATTCACAGAGCCTTCTGATGCTGTGGGGCCTGGGTCTAGACACACCCCTGCCCTTGCCCCAACCAGACCCACAGCGGGAGTGAGGACCCCATCAGGGACCTCGGCATCTGAGCCCCTCCCCAATCCTCCCACCTCACTCCCTGCCCTTGCTTTCCTTTTACACTCCACACACCTGTGTTTTTCTCAGAAGGTCTGCCCCTCTGTCTCCCACTCATGAGGTCCTCTCCCCTGCAAGTCTTTTTCCATCTTACCTTTCTTTCAAAGCCCTTCTCATCTTTCAAGCCCAATTCAATAGACCACCTCCTCCTTGAAGCCTCCCTGATCTATCAGGCAGAATTCCCTGCCCTTTCCTCTGCTTCTCTGGGTAGGACCTACATCATTTTGCCACCTCCCTTAACTCCCCACCTGACCCAAAGAAGGGGCTTGGTTTGTGTGAAGATGAAAGGAGCACCCTGTGGAGAGCCAGGGCAGGGGTTCTGCATTCAGGGGAGACAGGAAGGCAAGAACCCTTCTGCAAGGGAGCCAAGGGCGCCTAGGGCTCCCAGAGGCAGCAGTGGGAGGTTGTGGCTAAAACATGGACATGGAGCCAGAGCGCCCAGACTGGGATCCTGGCTCCTCAGTTCACTAACTGTGGGCCTCAGGCACACAACTCTGTGCTTTGGAGTCCTGTCTGTAGAAGAGAGGCAATGCAAATTCATACCTCCCAGCAACACAGTTAGAATTAAATGAGCAAACTCTATGGGAAAGTGTGGAGTGGGATGCCGGGTGCACTAAGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAGGAGGTCGGGCAGGAAGGCTCTAGAATTGGCCCTGGTGTGAGCCCAGTGGGCAAGGGAAGGGGAGATGGGGGGGGGCAGGGAGAGGGGCCCACCCTGCAAGCCCCAGGAGGAGCCAGGCAGACCCAGGCTGGGCTGTCTCTGCCTGCCCCAGACAAGCACCAAAGAGCCAAGGCCTTTGGACTTTTCTACTCTCTCTCCCTCTCTCCTCTTTTCTCCATTAATGTGTCTAAGAAGCGTTTTTGGTATTTTCTAAAGGGACCTCGCGGTAAACCAGGAGACATGGACCCTCCTGGTCCCCAAGGCCCCCCAGGAAAGGATGGACCTCCAGGAGTGAAGGGAGAAAACGGGCACCCAGGGAGCCCAGGAGAGAAGGGGGAAAAAGGGGAGACAGGACAAGCAGGCTCACCGGTGAGTGGCAGGGCTGGCTGCCCTTCCGTGCATACACCACTCCCAAGCATGACGCCAGCTTTGCAGGGCTTTGCACTTTGCATGATGTGAGCTGCTGCCTGGGCTAGAAACCTGGGGCCAGGGCTTAGGGGTGGAGGATTCACTCAGCTTCCCCTCAAGTCACTCACTTTATGAAGGCCAGTTTCCCGACTCAGGAGACCTGAGTTGTGCTCTGTCATCTGTATCCTTGGGAAAGCCACTCACTGTTGCAGAGTCTCCGTCTCCTCATCTCTAAACTGGCGATAATAATGTTTTCCCTGGATACCTCACTGGATTGTTGGGAAAGAGATGAAGACATGGTTTAGAGCTGCCTCTTTGGAAAGTGTACAGAAGCCCTATACCCGGGAGAGGCTGCATGTACAGAAACGGGGCCTTCGCCCAGTCCACTAGGCTGCTAACTTGACTTAGGGGCCTTCTCTGGGTCTCAGGGGTTTCCATCTGTGAAATGGGTGCCATCCTAGACACCTACCCTTGGAGCAAGGGAGCCACATCCTGTGCAGGCCACAGTTGGTCACACTCAGCAAGACCACCTTGAGCTCCACTAACAGAAATCATTGTCAGTCTGTAGGGTCTAGATGGCCCAACTGGGGAGAGGAGAACATGGTGGCCAGAGCAGACCCAGAGTGGCAGGATTGCCTAATCCAGCTGGGCTCCTGAGGTTTACAGTGAAGCCAGAGGGCTGGGTGTCAAGGTTGCCTGCAGGCAGCCACAGATGAGGGTCCTCCTGGGGGCCACCAGCCTAGTGGGTGCCTGACACTGTGACGAGGCTGCCCTAATCCCAAGCCTGCCGACCCAGCCTGGGAGCAGGCAGGGAGGGTCCTCTTAACAAGCAGCTACTTCATTTGAGTGTAAACAGGAGTTGCATCTTCCTTGGCTCACGGTATGATGGCCTCTAGGAGCACCAACCTAGTTCGACGGTGCTAGAATCTTGGTCTCAGAATTCTCCTCTAGGAAGTGGAAAGAGCCTCAGAGGTCAACCAGTCCCAAGTCTGACCCAGTGCAGGACTCCTCACTCAACCGGCACAGGCAGGCAGCTCACTGCCTCCAGACCTGTCCACTGCACCATGGGGCAGCCCCAGGATGGAGGGAGCATTCCTGGATATGGTGTGGAAGCTCCCTTGTCAGCCTCCCCGAGTTGACCCCTCAGAGCCTCTGGCCTCTGGAGCCATATTTATTATCTATTGCTGCATAACTAATCACTGCAAACGTAGCGGCCTAAGAAAATACACACTTATTGGCACATAGTTTCTGTGGGTCAGGAATTCAGGCACATCCTAGTTGGGTCCTCTGCCCATGGTCTCATGAGGCTGCAATTAATGTCTCAGCCAACTGTATTCTCATCTGGAGCTAGGGATCCCCTTCCAAGCTACTGGTATTGGCAGAATCCAGTTCCTTGCTGGAACAGAACTCAGCTCCTAGAGGCCACCTACAGTTCCTGCCACCTGCGCCCCTGCCCTCCCCACCTCCCGCAGAGTAGACAGTTCACATTATAGCAACTGGCATCTTCAAGGACAAGGCCAGCAGTAGGGTCTCTCTAGTGTCTAGTGCTAGCAAGACAGAGCTGTGTGCACGTGTGTTTGTGTGTTCATGTAACATATTTGTAACATAATCTTAATATATGTTATATGTCACCATCTGTATGACATGTATGTTATAATCTGCAACATAATCATAGAAGTGAGGTCCCACCACCTTTGCCATGTGCCTTACTCCACGGCTAAGAAACAAGTCACAGGTCACCCTAAGGCCTGTACGCTGCAGAGTCCACAGAGAGTATCAGCCTCTCCTCCCCTGTACTAGAGCCTCAGATTCTGTCCTGCAGGCTGACACCTCCACATCCTCCATGGTGTTCCTTGTTGACCCCTAGACCAGTCACGTCCCAGT
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Task1_train_13957
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A genomic change on Chromosome 10 affects NODAL (nodal growth differentiation factor). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Heart, malformation of
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TTAAACAGATTCAAAAAATTACATGTATCTGGGTAGAGTAGTAGCTATTTTTTTTTTTAAGTGGTAGCTAATTTTTATGTTCTCCTATTATTCTAGTCTAAAGGGAATACCATTTTTTTTTTCTTTTTTGAGATGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCATCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTACATGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAAATAGGGTTTCGGCATGTTGCCCAGGCTGGTCTTGACCTCCTGGGCTCAAGCGATCCACCCACCTCAGCCTCCCAAAATGCTGGAATTACATGAGTGAGCCACCGTGCCCGGCTGTGAATACCAATTTTTAAAATATTCCAAGAAATTCCTGGTTTAGTTCTAGAAATATGAAGCAGAATAGTTAGTCATGTGGAAATTCTTATGGGATTTGCTGTCAGCCAGAGAAGGACAGAGAGAGTCAATAGGAGGAAAGGAACAATCCCTTGGCGTTTTGGAACCAGGGCCTGTCCCTGTGGTCTAGTAACGTCTTTTTAGATCAGAGTGTCAGAGTTGGCAGTTGGGACTGTCTGGGTCTTTGTGGTGCTCCAGGTGGGCGATGAAAATCAGCAGGCCTGGGTGAGGCTCAGGACAGATCCTCGGAAGCTCTAGTACCCCCAGGGACTCCCTTGCATGACCTCAGCCCATGTGCTCATGCTCCCCAGAGACCCTGAATCCCGCCTGAGGCTTGGCATGGAGGATATATTGCAAGTCCAAGAAATTCTCATTCCAGACTTCATGGAGTAAAATGAAAACATTTTGGTCCCATATGACCTTGGACAGCAGGGCAGGGCCACCTATAACATCAGATCCACCATATTAGGTTATATTTTCTGTTCTCTCCATCTTCTTCTCTTTCCTAACTCACCAGCTCTGTTCTTCCTCCACCACCTCCTAGACCTTAGGCTGACTAGTGGCACCAAGTGGCAGCCTCTGGCTTTGTCTACTTTTTCTTGTTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACAACACCCGGCTGATTTTTGTATTTTTAGTAGAGACGGGGTGTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGTTGGGATTTCAGGCATGTGCCACCGCACCTGGCTGGCCTTGTCTACTTCTGTAGAATGGGTAGTCAATTCTCAACCAAAATACTGTGGCTGGAACAGTGTGATTCCAACCGTGGCCCCATAATGCAGCCAAACATGCCTGTTACCTACCAACTGCTTTACATGCCATGTGCATGTCATCTCATTAACCCTACAGCATCCCTCTGAAATATGGCATTGCCCTCCTCATCTTACAGGTGGAAAAACTGAAGCTTGAGAGAATAAGCAACCTAAACAGTATCACACAGCTAATGAGGAGTCAAATGCAGGCCTGCCTGTCCCCAAAGTCCAGATTCTTCCTTTCCTAGAATGTCAGGGCTAGGGAAGTGCTGAGACCCTCTGGTCTACCCCCACCCCCTAATTTTATGAAAGACAAGGATAAAGTCCCAGGGAAACAATGTGTTCAAGGCTACCCAGTGACGCATGACCCCATACAGGCTCTATAAGGATGTTACACTCGGTCATCTCTACATGCCTGGTACCTAGCACAGGATCCTGGTACATTGGAGGTGCTTGAGTAACTGTGAATACAGGAACATAGTCATTTAATAGCAAAGCTAGAGCCCTGTCCCCCAAGGCCAGCTTACTGCCTCCCCTCCCCCTCACGCCTGGCATCCCACCTGGATGTATGCATGGTTGGTCGGATGAAACTCCTCCCCAACAGGATTAGGACACTCGCCCTCACAGCGATAGGCGTTGTACTGCTTGGGGTAGATGATCCAGGAGCCCCATCCGATCAGGTTGAAGTCCACCTGGAACTTGACCTTCCGACACAGTTGACTTCTGTCTGGCAAGTGATGTCGACGGTGCCTCTTGCCCCACTCCCAGGACAGCTGTCCCTCCTGGGCCCGCCAGGAGCTCTCGGCTTCCCACAGCAAGGTGGACCCACCCAGCTGCCTCTGCTCCTGCGAGAGGTTGGAGTAGAGCATAAGGAGCACATTGGTGGCAGGCGGTGTGGGGGGCCGCGGCCAGCACTCTCCAGCTACCCTGGACATCTGCTTCTCCAGGGCCCCAGGGTGCTTCAGCCACTTGGAGAGAGGCCTGGTCACCTCCAAAACCATGCTGCCCAAGGAAAAGGTGACCTGGGACAAAGTGACAGTGAATAGGTCCATCTGAAACCGCTCTAAGCAGCTGTCTGAAGCCTGCTCTGTGTCGGGCTTTGGCTGGTGGAAAATCTCAATGGCAAGTGAGCCCTCAGTGGGGAGGTCCACAGGGCTGGACAGCTGCAGCCGGAGCTCAGCCCATGCCAGATCCTCTTGTTGGCTCAGGAAGGAGAAGTCAAAAGCAAACGTCCAGTTCTGCCCATCCACTGCCACATCTGGGTAGGAGAAAACCAAGAAGGAAGGAGGGTGAGTGAGGGCCTCCCCCAGCCTCAGTCAGTGTCACAACCACCATAGCTCTTGCTGGAGGCCTTACCTTATATAGAATTACCTTCGAATTCTCACCCCAACTCTATGAGTTGGTAAGATTTTCGAGTCCCTTTTAGAGATGAGGAAAACTGAGGCTCAGTGTGGTTAAAAGATCTGACCAAGGTGTCATTCTTGGAAGGTGGCAGAGCCAAGAGTAAACCTGGATTTGCCCAACTGCCAAGCCCAGACTCCGAATTACTGTTCTTCCAGTCCCCCTTCCAAGATAACTTGCACAGCCAGAGGACAGTCAGTAAAAATGTGATGAGTTGCATCTCCCCCTCCCCTGTCTCCTCCCATACATGAAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTTTGCGCCTGTAATCCCAGCCACTCGAGAATCATTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACAGTGCCATTGCACTCCAGCCTGCACAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTGACTTGTTTTACAGACACATTGAGCTAGATGTGAATATCATGGAAAAGCTCAGAGCTCTCAGGGAGCCACAGGCAATAGAAGCCAAAGACTGGTCACCCTCTACCCACCCCCCAGTTCCTAAGAGTTTTTGGCAACCTTACAAATAGGTTTCTAAAGGCTTTCTAGGCATGTCTACCCACCTACAGGATGCTCGCCCATTCCTGTCCCAGGTCATTCACACACCTGGGGCACACAGCAATCACATGCACCCAGAAGCTTCCAGAAGGCTGAAAGTGGGAGTTGCCCCTTTACAATACAAGGTGGATTATTTCCCAAAGAAATTCACTTTCTCTCTGATCAAAGATGCTCTATGAGACAACAGATGAATAAACTGTTAGATGCCCAGACTGGACCTACATCAGAGATCATCACCCAGAAGACACACACACCCAGCCCTGTTCCACACACCCAAGACAACCAAACCCAAGCTGGATGACAAGGAGTAGGGGAGCACACTCCATTTATTCTGGTCCTGGATTGATTTTCCCTGATGTCTGGGAATAGCACAGATTTGTGGATTTTCAGGTGACTTAATAGTGATGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCTCACGCCTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCGGGATCGCGCCA
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TTAAACAGATTCAAAAAATTACATGTATCTGGGTAGAGTAGTAGCTATTTTTTTTTTTAAGTGGTAGCTAATTTTTATGTTCTCCTATTATTCTAGTCTAAAGGGAATACCATTTTTTTTTTCTTTTTTGAGATGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCATCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTACATGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAAATAGGGTTTCGGCATGTTGCCCAGGCTGGTCTTGACCTCCTGGGCTCAAGCGATCCACCCACCTCAGCCTCCCAAAATGCTGGAATTACATGAGTGAGCCACCGTGCCCGGCTGTGAATACCAATTTTTAAAATATTCCAAGAAATTCCTGGTTTAGTTCTAGAAATATGAAGCAGAATAGTTAGTCATGTGGAAATTCTTATGGGATTTGCTGTCAGCCAGAGAAGGACAGAGAGAGTCAATAGGAGGAAAGGAACAATCCCTTGGCGTTTTGGAACCAGGGCCTGTCCCTGTGGTCTAGTAACGTCTTTTTAGATCAGAGTGTCAGAGTTGGCAGTTGGGACTGTCTGGGTCTTTGTGGTGCTCCAGGTGGGCGATGAAAATCAGCAGGCCTGGGTGAGGCTCAGGACAGATCCTCGGAAGCTCTAGTACCCCCAGGGACTCCCTTGCATGACCTCAGCCCATGTGCTCATGCTCCCCAGAGACCCTGAATCCCGCCTGAGGCTTGGCATGGAGGATATATTGCAAGTCCAAGAAATTCTCATTCCAGACTTCATGGAGTAAAATGAAAACATTTTGGTCCCATATGACCTTGGACAGCAGGGCAGGGCCACCTATAACATCAGATCCACCATATTAGGTTATATTTTCTGTTCTCTCCATCTTCTTCTCTTTCCTAACTCACCAGCTCTGTTCTTCCTCCACCACCTCCTAGACCTTAGGCTGACTAGTGGCACCAAGTGGCAGCCTCTGGCTTTGTCTACTTTTTCTTGTTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACAACACCCGGCTGATTTTTGTATTTTTAGTAGAGACGGGGTGTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGTTGGGATTTCAGGCATGTGCCACCGCACCTGGCTGGCCTTGTCTACTTCTGTAGAATGGGTAGTCAATTCTCAACCAAAATACTGTGGCTGGAACAGTGTGATTCCAACCGTGGCCCCATAATGCAGCCAAACATGCCTGTTACCTACCAACTGCTTTACATGCCATGTGCATGTCATCTCATTAACCCTACAGCATCCCTCTGAAATATGGCATTGCCCTCCTCATCTTACAGGTGGAAAAACTGAAGCTTGAGAGAATAAGCAACCTAAACAGTATCACACAGCTAATGAGGAGTCAAATGCAGGCCTGCCTGTCCCCAAAGTCCAGATTCTTCCTTTCCTAGAATGTCAGGGCTAGGGAAGTGCTGAGACCCTCTGGTCTACCCCCACCCCCTAATTTTATGAAAGACAAGGATAAAGTCCCAGGGAAACAATGTGTTCAAGGCTACCCAGTGACGCATGACCCCATACAGGCTCTATAAGGATGTTACACTCGGTCATCTCTACATGCCTGGTACCTAGCACAGGATCCTGGTACATTGGAGGTGCTTGAGTAACTGTGAATACAGGAACATAGTCATTTAATAGCAAAGCTAGAGCCCTGTCCCCCAAGGCCAGCTTACTGCCTCCCCTCCCCCTCACGCCTGGCATCCCACCTGGATGTATGCATGGTTGGTCGGATGAAACTCCTCCCCAACAGGATTAGGACACTCGCCCTCACAGCAATAGGCGTTGTACTGCTTGGGGTAGATGATCCAGGAGCCCCATCCGATCAGGTTGAAGTCCACCTGGAACTTGACCTTCCGACACAGTTGACTTCTGTCTGGCAAGTGATGTCGACGGTGCCTCTTGCCCCACTCCCAGGACAGCTGTCCCTCCTGGGCCCGCCAGGAGCTCTCGGCTTCCCACAGCAAGGTGGACCCACCCAGCTGCCTCTGCTCCTGCGAGAGGTTGGAGTAGAGCATAAGGAGCACATTGGTGGCAGGCGGTGTGGGGGGCCGCGGCCAGCACTCTCCAGCTACCCTGGACATCTGCTTCTCCAGGGCCCCAGGGTGCTTCAGCCACTTGGAGAGAGGCCTGGTCACCTCCAAAACCATGCTGCCCAAGGAAAAGGTGACCTGGGACAAAGTGACAGTGAATAGGTCCATCTGAAACCGCTCTAAGCAGCTGTCTGAAGCCTGCTCTGTGTCGGGCTTTGGCTGGTGGAAAATCTCAATGGCAAGTGAGCCCTCAGTGGGGAGGTCCACAGGGCTGGACAGCTGCAGCCGGAGCTCAGCCCATGCCAGATCCTCTTGTTGGCTCAGGAAGGAGAAGTCAAAAGCAAACGTCCAGTTCTGCCCATCCACTGCCACATCTGGGTAGGAGAAAACCAAGAAGGAAGGAGGGTGAGTGAGGGCCTCCCCCAGCCTCAGTCAGTGTCACAACCACCATAGCTCTTGCTGGAGGCCTTACCTTATATAGAATTACCTTCGAATTCTCACCCCAACTCTATGAGTTGGTAAGATTTTCGAGTCCCTTTTAGAGATGAGGAAAACTGAGGCTCAGTGTGGTTAAAAGATCTGACCAAGGTGTCATTCTTGGAAGGTGGCAGAGCCAAGAGTAAACCTGGATTTGCCCAACTGCCAAGCCCAGACTCCGAATTACTGTTCTTCCAGTCCCCCTTCCAAGATAACTTGCACAGCCAGAGGACAGTCAGTAAAAATGTGATGAGTTGCATCTCCCCCTCCCCTGTCTCCTCCCATACATGAAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTTTGCGCCTGTAATCCCAGCCACTCGAGAATCATTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACAGTGCCATTGCACTCCAGCCTGCACAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTGACTTGTTTTACAGACACATTGAGCTAGATGTGAATATCATGGAAAAGCTCAGAGCTCTCAGGGAGCCACAGGCAATAGAAGCCAAAGACTGGTCACCCTCTACCCACCCCCCAGTTCCTAAGAGTTTTTGGCAACCTTACAAATAGGTTTCTAAAGGCTTTCTAGGCATGTCTACCCACCTACAGGATGCTCGCCCATTCCTGTCCCAGGTCATTCACACACCTGGGGCACACAGCAATCACATGCACCCAGAAGCTTCCAGAAGGCTGAAAGTGGGAGTTGCCCCTTTACAATACAAGGTGGATTATTTCCCAAAGAAATTCACTTTCTCTCTGATCAAAGATGCTCTATGAGACAACAGATGAATAAACTGTTAGATGCCCAGACTGGACCTACATCAGAGATCATCACCCAGAAGACACACACACCCAGCCCTGTTCCACACACCCAAGACAACCAAACCCAAGCTGGATGACAAGGAGTAGGGGAGCACACTCCATTTATTCTGGTCCTGGATTGATTTTCCCTGATGTCTGGGAATAGCACAGATTTGTGGATTTTCAGGTGACTTAATAGTGATGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCTCACGCCTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCGGGATCGCGCCA
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Task1_train_13958
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Assess the clinical impact of this variant on gene PRF1 (perforin 1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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GCTTTTGGACCTTGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCT
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GCTTTTGGACCTTGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCTCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCT
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Task1_train_13959
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The gene PRF1 (perforin 1) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Aplastic anemia
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GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGC
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GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCGGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGC
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Task1_train_13960
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This alteration occurs within gene PRF1 (perforin 1) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGC
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GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCGGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGC
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Task1_train_13961
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The gene PRF1 (perforin 1) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis
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GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGC
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GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCGGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGC
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Task1_train_13962
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The following genetic variant occurs in PRF1 (perforin 1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not specified
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TTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGA
|
TTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGATCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGA
|
Task1_train_13963
|
Mutation context: Chromosome 10, Gene PRF1 (perforin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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ATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGT
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ATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCCCCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGT
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Task1_train_13964
|
This mutation occurs in PRF1 (perforin 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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AGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAG
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AGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCTGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAG
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Task1_train_13965
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Consider a variant on Chromosome 10 in gene PRF1 (perforin 1). Determine its clinical classification and disease relevance.
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Pathogenic; Familial hemophagocytic lymphohistiocytosis
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AGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAG
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AGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCTGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAG
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Task1_train_13966
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Given this variant in gene PRF1 (perforin 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Aplastic anemia
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CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCT
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CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCATAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCT
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Task1_train_13967
|
Gene PRF1 (perforin 1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis
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CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCT
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CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCATAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCT
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Task1_train_13968
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This gene mutation involves PRF1 (perforin 1) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCT
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CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCATAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCT
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Task1_train_13969
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The gene PRF1 (perforin 1), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCA
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CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTTGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCA
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Task1_train_13970
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This is a variant in PRF1 (perforin 1), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis
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CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCA
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CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTTGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCA
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Task1_train_13971
|
This alteration in PRF1 (perforin 1) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Aplastic anemia
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CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCA
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CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTTGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCA
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Task1_train_13972
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An alteration has been detected in PRF1 (perforin 1) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Autoinflammatory syndrome
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCAGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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Task1_train_13973
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A variant on Chromosome 10 in gene PRF1 (perforin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Inborn genetic diseases
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCAGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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Task1_train_13974
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Chromosome 10 houses a mutation in gene PRF1 (perforin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Aplastic anemia
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCAGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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Task1_train_13975
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Mutation context: Chromosome 10, Gene PRF1 (perforin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Familial hemophagocytic lymphohistiocytosis
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCAGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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Task1_train_13976
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This variant affects gene PRF1 (perforin 1) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; Familial hemophagocytic lymphohistiocytosis type 1
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCAGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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Task1_train_13977
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This sequence variant lies in PRF1 (perforin 1) on Chromosome 10. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCAGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACA
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Task1_train_13978
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A variant was discovered on Chromosome 10, affecting PRF1 (perforin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCGGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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Task1_train_13979
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This mutation occurs in PRF1 (perforin 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Aplastic anemia
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCGGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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Task1_train_13980
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This mutation occurs in PRF1 (perforin 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCTGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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Task1_train_13981
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With a mutation on Chromosome 10 in gene PRF1 (perforin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCTGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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Task1_train_13982
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This mutation is located in gene PRF1 (perforin 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Aplastic anemia
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCTGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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Task1_train_13983
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Given this variant in gene PRF1 (perforin 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Lymphoma, non-Hodgkin, familial
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCTGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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Task1_train_13984
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Here’s a variant in PRF1 (perforin 1) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCTGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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Task1_train_13985
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The gene PRF1 (perforin 1) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Aplastic anemia
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCTGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCC
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Task1_train_13986
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This variant affects the gene PRF1 (perforin 1) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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TGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGG
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TGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGTGGGCAAAGAAGACAGAGCAGCTGGAGCTGATGGGGCTCCAGTTAAGGCAATGAAGGCTTTGCCACACCATAGAGGGCTCAAGGGAAGGGTCCTAAAAGACCAGCCCTGAGCAGCCTGGTGGGAACAGCCTCTTGGCCTTCTGCCCAGCTCCTGGCTGAAGCTGTGATCTGTGTAGCTGTGACTGCAGGGCTTGAGAATGGCGGAGGGCTTAGGCAGTTTGGACAGGGTGAATCGGGATTAGCGTGTAAACCCAGCCACCTCCCTGAAAAACAGTCTGAATCTCCCTTTTCCATCTGTCTGATGCGTATCCAATCTTTTGGCTTCTCTGGGCCACGTTGGAAGAAGAATTGTGTTGGGCCACATGTAAAATCCACTAGCACTAACGATAGCCGATGAGCTAAAAAAAAAAAAAAAATAGCAAAAAGAAACTCATAATGTTTTAAGAAAGTTTGCGAATTTGCGTTGGGCCGCATTCAAAGCCATCCTGGGCCGCATGCGGGCCTCGGGTTGGACAAGCTTGGTCTAATGGGAATACGAAGACAGCCCTGGCTCCCACTGTGAGAACCCCTTCAGTCCAAGCATACTGGTCCTTTCCAAGCTCACTGTTCTCACCACACGGCCCCACTCCGGTTTCCTGGAGGCTCCCCCAGAAGCATTTGGGGGACATAGTCCAGGCAGGTGCCTCCTCCCAGGTGGGGCAAGCACCTGGCATGATAGCGGAATTTTAGGTGGCCATGATTCAGGTTGCATCTCACCTCATGGGAACCAGACTTGGGAGCCTGATCACAGGTGCCAAGGAGGTCATCGTCCCTGCCAGAGTCCTGATCCCAGACCTGCAACCTCAGGGGCCCCCCTGTGGCCAGGAGCACATCCCCAAAATCCAGCCGCACTGACCAGATGGGGTTGTTATTGTCCCACACGGTGCTCGTCCTCAGCTCCTGGCCACCAAAGAAGAGCTTCACATAGGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCCCATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGG
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Task1_train_13987
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A variant on Chromosome 10 in gene PRF1 (perforin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCTGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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Task1_train_13988
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A variant affecting Chromosome 10, within the gene PRF1 (perforin 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Lymphoma, non-Hodgkin, familial
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCTGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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Task1_train_13989
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A change on Chromosome 10 affects gene PRF1 (perforin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Aplastic anemia
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCTGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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Task1_train_13990
|
Assess the clinical impact of this variant on gene PRF1 (perforin 1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Inborn genetic diseases
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCTGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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Task1_train_13991
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The following genetic variant occurs in PRF1 (perforin 1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Familial hemophagocytic lymphohistiocytosis
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCTGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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Task1_train_13992
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Given this context: Chromosome 10, gene PRF1 (perforin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCTGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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Task1_train_13993
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Chromosome 10 houses a mutation in gene PRF1 (perforin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Aplastic anemia
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCTGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACAC
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Task1_train_13994
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A variant has been detected on Chromosome 10 in PRF1 (perforin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Aplastic anemia
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CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATA
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CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCGAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATA
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Task1_train_13995
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The following genetic variant occurs in PRF1 (perforin 1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATA
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CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCGAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATA
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Task1_train_13996
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Assess the clinical impact of this variant on gene PRF1 (perforin 1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Familial hemophagocytic lymphohistiocytosis
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CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATA
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CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCGAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATA
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Task1_train_13997
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This mutation occurs in PRF1 (perforin 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis
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GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
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GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCAGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
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Task1_train_13998
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Here is a variant affecting PRF1 (perforin 1) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Aplastic anemia
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GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
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GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCAGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
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Task1_train_13999
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This is a variant in PRF1 (perforin 1), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Lymphoma, non-Hodgkin, familial
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GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
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GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCAGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
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Subsets and Splits
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