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_300
|
A variant has been detected on Chromosome 1 in MFN2 (mitofusin 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Charcot-Marie-Tooth disease
|
GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
|
GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCATTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
|
Task1_train_301
|
A variant was discovered in gene MFN2 (mitofusin 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Charcot-Marie-Tooth disease type 2A2
|
GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
|
GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCATTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
|
Task1_train_302
|
A mutation in MFN2 (mitofusin 2), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Neuropathy, hereditary motor and sensory, type 6A
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GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
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GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCATTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
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Task1_train_303
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Gene MFN2 (mitofusin 2) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Peripheral neuropathy
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GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
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GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCATTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
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Task1_train_304
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This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Severe early-onset axonal neuropathy due to MFN2 deficiency
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GCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGC
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GCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCGAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGC
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Task1_train_305
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This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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AGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTC
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AGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAACTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTC
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Task1_train_306
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This variant affects gene MFN2 (mitofusin 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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AGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAG
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AGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGTACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAG
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Task1_train_307
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The following genetic variant occurs in MFN2 (mitofusin 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGA
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GTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCCCACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGA
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Task1_train_308
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Located on Chromosome 1, this mutation impacts MFN2 (mitofusin 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 2
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TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
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TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCTGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
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Task1_train_309
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This gene mutation involves MFN2 (mitofusin 2) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease type 2A2
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TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
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TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCTGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
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Task1_train_310
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Here’s a variant in MFN2 (mitofusin 2) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Hereditary motor and sensory neuropathy with optic atrophy
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TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
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TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCTGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
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Task1_train_311
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This variant impacts the gene MFN2 (mitofusin 2) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCT
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ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCCGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCT
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Task1_train_312
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This alteration occurs within gene MFN2 (mitofusin 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Charcot-Marie-Tooth disease type 2A2
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ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCT
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ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCCGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCT
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Task1_train_313
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The gene MFN2 (mitofusin 2) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAA
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GCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCCGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAA
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Task1_train_314
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Consider a variant on Chromosome 1 in gene MFN2 (mitofusin 2). Determine its clinical classification and disease relevance.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCA
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GGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCAGGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCA
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Task1_train_315
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This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCAGGTGAGAAATGAGGAGGAGGC
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GCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGTTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCAGGTGAGAAATGAGGAGGAGGC
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Task1_train_316
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Here is a genetic alteration in MFN2 (mitofusin 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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ATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACACCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACCAGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACATTTCCCCCTTTTCTATTCGACAAAACCGCCATCGTCACCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGTGGTTGGGCAGAGGCGCCCCCCACCTCCCGGATGGGGCGGCGGCCGGGCGGAGGCGCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGACTGACCCCCCACCTCCCGGACGGGGCGGCTGCTAGGCGGAGACGCTTACTTCCCAGACGGGGGCGGCTGCCTGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCAGAGACGCTCCTCACCTCCTAGACGGGGTTGTGGCTGGGCAGAGGCGCTCCTCACATCCCAGACGGGGTGGTGGGGCAGAGGCGCTCCCCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGTGCTCCTCACTTCCCAGAGTGGGCAGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCTCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCTGAGATCATGCCACTGCCTGGGCAACATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTGCCGGTTAGGAGCTGGAGACCAGCGCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAGTCGCAGGCACTGGGCAGGTTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCAGAGATGGCGGCAGTACAGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGCGGGAGAGGGAGAGGGCCATCTCCTTTTTCAAAATCAAGAAACTGAGATTTGAAAAATAGTGACGTGTCCTCTGCTACTCGGCTGATGAGCAGCAGAGTCAGGATCTCTTGTGCCCAAACCAGGGTGCACAGCTCTGTGCTGTTGCTTCTCAGGCCGTGGTGATGCTGAGTGTGTTTGGTTGTTATGATTATTCAGTCTCAGCAGGGTGTAGGAGATTCTGCCAAACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTT
|
ATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACACCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACCAGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACATTTCCCCCTTTTCTATTCGACAAAACCGCCATCGTCACCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGTGGTTGGGCAGAGGCGCCCCCCACCTCCCGGATGGGGCGGCGGCCGGGCGGAGGCGCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGACTGACCCCCCACCTCCCGGACGGGGCGGCTGCTAGGCGGAGACGCTTACTTCCCAGACGGGGGCGGCTGCCTGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCAGAGACGCTCCTCACCTCCTAGACGGGGTTGTGGCTGGGCAGAGGCGCTCCTCACATCCCAGACGGGGTGGTGGGGCAGAGGCGCTCCCCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGTGCTCCTCACTTCCCAGAGTGGGCAGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCTCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCTGAGATCATGCCACTGCCTGGGCAACATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTGCCGGTTAGGAGCTGGAGACCAGCGCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAGTCGCAGGCACTGGGCAGGTTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCAGAGATGGCGGCAGTACAGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGCGGGAGAGGGAGAGGGCCATCTCCTTTTTCAAAATCAAGAAACTGAGATTTGAAAAATAGTGACGTGTCCTCTGCTACTCGGCTGATGAGCAGCAGAGTCAGGATCTCTTGTGCCCAAACCAGGGTGCACAGCTCTGTGCTGTTGCTTCTCAGGCCGTGGTGATGCTGAGTGTGTTTGGTTGTTATGATTATTCAGTCTCAGCAGGGTGTAGGAGATTCTGCCAAACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCCTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTT
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Task1_train_317
|
Gene MFN2 (mitofusin 2) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Charcot-Marie-Tooth disease type 2A2
|
ATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACACCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACCAGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACATTTCCCCCTTTTCTATTCGACAAAACCGCCATCGTCACCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGTGGTTGGGCAGAGGCGCCCCCCACCTCCCGGATGGGGCGGCGGCCGGGCGGAGGCGCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGACTGACCCCCCACCTCCCGGACGGGGCGGCTGCTAGGCGGAGACGCTTACTTCCCAGACGGGGGCGGCTGCCTGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCAGAGACGCTCCTCACCTCCTAGACGGGGTTGTGGCTGGGCAGAGGCGCTCCTCACATCCCAGACGGGGTGGTGGGGCAGAGGCGCTCCCCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGTGCTCCTCACTTCCCAGAGTGGGCAGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCTCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCTGAGATCATGCCACTGCCTGGGCAACATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTGCCGGTTAGGAGCTGGAGACCAGCGCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAGTCGCAGGCACTGGGCAGGTTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCAGAGATGGCGGCAGTACAGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGCGGGAGAGGGAGAGGGCCATCTCCTTTTTCAAAATCAAGAAACTGAGATTTGAAAAATAGTGACGTGTCCTCTGCTACTCGGCTGATGAGCAGCAGAGTCAGGATCTCTTGTGCCCAAACCAGGGTGCACAGCTCTGTGCTGTTGCTTCTCAGGCCGTGGTGATGCTGAGTGTGTTTGGTTGTTATGATTATTCAGTCTCAGCAGGGTGTAGGAGATTCTGCCAAACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTT
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ATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACACCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACCAGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACATTTCCCCCTTTTCTATTCGACAAAACCGCCATCGTCACCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGTGGTTGGGCAGAGGCGCCCCCCACCTCCCGGATGGGGCGGCGGCCGGGCGGAGGCGCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGACTGACCCCCCACCTCCCGGACGGGGCGGCTGCTAGGCGGAGACGCTTACTTCCCAGACGGGGGCGGCTGCCTGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCAGAGACGCTCCTCACCTCCTAGACGGGGTTGTGGCTGGGCAGAGGCGCTCCTCACATCCCAGACGGGGTGGTGGGGCAGAGGCGCTCCCCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGTGCTCCTCACTTCCCAGAGTGGGCAGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCTCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCTGAGATCATGCCACTGCCTGGGCAACATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTGCCGGTTAGGAGCTGGAGACCAGCGCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAGTCGCAGGCACTGGGCAGGTTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCAGAGATGGCGGCAGTACAGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGCGGGAGAGGGAGAGGGCCATCTCCTTTTTCAAAATCAAGAAACTGAGATTTGAAAAATAGTGACGTGTCCTCTGCTACTCGGCTGATGAGCAGCAGAGTCAGGATCTCTTGTGCCCAAACCAGGGTGCACAGCTCTGTGCTGTTGCTTCTCAGGCCGTGGTGATGCTGAGTGTGTTTGGTTGTTATGATTATTCAGTCTCAGCAGGGTGTAGGAGATTCTGCCAAACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCCTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTT
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Task1_train_318
|
Gene MFN2 (mitofusin 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTT
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AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGTCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTT
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Task1_train_319
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Here is a genetic alteration in MFN2 (mitofusin 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Charcot-Marie-Tooth disease type 2A2
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AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTT
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AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGTCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTT
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Task1_train_320
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This alteration occurs within gene MFN2 (mitofusin 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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TGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTTTGACATGGC
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TGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTGGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTTTGACATGGC
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Task1_train_321
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A variant affecting Chromosome 1, within the gene VPS13D (vacuolar protein sorting 13 homolog D), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
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ATATTCCCTGGGTAGAGGCAGCCCCTATCTGTTGTGTGAGAATTGGAAGCCAGTTTGGAGGAGGAGGAGGATGATTTGTGTAATTTTTGTTAATCCTTTTAAAATGGTTTTAACGGGCAGTCCTAAACTACTGCGAACAGACCTATGCCATCTATTTCATTTACTTTCCTCACCTTTTCATTTGGAAACAATTTAAACTATAGGAAAGTTACAAAAGTAGTAAATGAATATCCCTATATCTTGTACCTAGATTTAACCAGTTTTCAGCATCTTGCTACATGTTGCTTCTCTCTTCACATACATGAACACACATTTTCCTTTCTGAACTATTTGAAAGTAAATTAAAGTCATCATGATACTTAAGCCATAAAAACCTCACTTATCACCCAAAAATAGGGACATTTTTCTAATTAAATATAATACTATTGTCACATACTGATGAAATTTAACCTTGATATGTTTTCTAATAAATAGTTTTCATAGACTGAATGAATGACTAGAATGTCCTTCATAGCAACTCCCTTCCCATTGATCTAGGATCCAGTCAAGGATCATTTATTTTAGTTGCCACGTGTATTCTCTTGTCTTCTTTAATCTAGAGTAGTCCCGCTTTGCCCATTTTGTCTTTAGTGACATTGACATTTTTGAAGACTCCAAGCAAGTTTCTTGTAGAATGTCCTATTTTCTGCATTTGGGCAGTGATTTCCTGTCTGTAGATTTGGGTCAAATATTTTCGATAGCTATACTTTCTATGTGATGCTGTGTGTTTCCCACCATGTCACATCAGGATGCCTGTGATGTCTGTTGGTCTCATTATTGTTGGTGATAAGTTGTTCTTCACCTGGTTAAGGTGGTATCCAGCAGGCCTCTTTTTTGTGAAGTTTCCTTTGTTCTTTGTAAATAAGAATAATCCCATTGAGGGAATAATTTAAGACAAAGTGAATATTCTGTTTCCCAAAAACCTTTCATTCAATGGTTTAATGGTTCTTGAATCACTTATTACATTGGTGGTTGCGATGAAATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGGAAACAGAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCCCTGGAGTGCAGTGGCGCGATCTCGGAGCTTCTCGGGAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTAAGCCTGGCTAATATTTTTGTATTTTTAGTAGAGACGCAGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCACGTGATCCACCCATCTCAGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCTGCAATGCAGATTTTTAAAAAATTAATTATTTTATTTTTATTTTTAATTGAGATGAGGTCTCACCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTAAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCATGCCCAGCCAGAAATGCTGATTTTTAATTCTCTAATTTCCTCTACATTTATTCACTGATATTTTTCCGTTAAGGTAAACTTTCCATTCCCTTCAGCGATTTTTCTGTATATATACACACACACATACATACATACACGTACATTACATCCATCCATCCTCTTCTTTACAGCAGAATATCAGCGTATAAATGTTGAGGAAATGGGAGAATTAGAAAATCACCATTTTGTAATCATATTACCAATTTCTACTTTTTTCAGATGATGGAGGAACACACAGTGGGCTGTAAGTTCAGTGGTATTGACTGAGGCCCAAACAGTGTTGTGATTGTCAGAAATATGAGAAGTAAGTGGATGGCATCTTGTCTCCTACATTTTATGTAGCCTCTTTTGTTTCCTTGTCCTGCAGGGATACCTTGGGAAAATGCTTCTTCCTACGAGTGGAAATTACTCTCCGAGGAGCTACGTATAGGATCTCATTTAGTGACACAGATCAGTTACCTCCTCCTTTCCGAATTGACAACTTTTCTAAGGTATCAAGTGGAGCTGAGAGCCAGTTTGACTGTTTCATGTGTGGGAGGGTGGAGTGTGTACTGCCCTTGACACAATGGTACAATACATTTTCAACTTGGGTTTAAAGGAAACTATATGGATAGGTTCTTTATATCTGGACAAGCCTAGAAATCCTTACCATTAAGAGGTGTTTTCTGCTGGTTATTTTGATTGCTAGGCAGCCTTGTCCAGGCAGAAGTAATCTTTTAGCTCCCAGATTTATTTATTTTGGCTAGAGTGGTTGGTTGACACTGTGCCTTCTGTAGACATCCCGTTCAAACAGAGGAAGACATCGGCTTGTCAGTGACAATGGGAATGGGCAATTCTGCTGTTGCTTAGTTACAGTGAGCATTTTAATAAATTTTTCAAGAAAGTCAATATGGAAATCATTAGATTTTATTTTAATTATGCTTTCAAATAATAATAGGTCTTATATGTGATGATCTGTAGCCAAATTCCAAAATACTTATTTTTTTCTGTATTCAAAATATATCATAGGGGGTTTGGGCTAGAAAGATGCCATTGGAAGGATGGAATTGCTCCCCTTAGATATTTGACTTGGCAAAGCGTTTAAAGCCTTTCATTCAATAGGATATATGTATATATGTGTGTGTGTATCTGTGTGTGTGTGTGTGTGTGTGTGTAGCACATGTCTTTTAATTGGTGAGTTTTTTTGGAATGTGCAAGATGATTAGAAACATTCGAAAGGTGAGATGATGAATTTCACTGGGGCTTATTTCCTGTGTAAGATTCATTTAGGAAGGATTTGGAACTTAAACCTACAAAGCACTGACTCACTTTTCAGTAACCCCACTCTGAATGAAAGTCCTCTTTGTCCTCTCTGCCATCACTCTAGGTCCCGGTTGTCTTTACTCAGCATGGCGTAGCTGAACCCAGGCTCCGGACTGAAGTGAAGCCCATGACTTCATTGGATTATGCCTGGGACGAACCCACCTTGCCACCTTTTATCACTCTGACTGTTAAAGGGGCAGGGTCCTCTGAGATCAACTGCAACATGAATGATTTCCAGGATAATCGGCAGCTTTATTATGAAAATTTCATTTACATTGCTGCTACATATACATTCTCTGGGTAATTCTTGATTAAATTACTGTTCCTATAAAGCAGAAGGTTCTAATTATTAACAGGTTTTAAATGTTAAGCAGTTTCTTAGGAGACCAAAGTACAAAGGAAGATTCTTTCATTCTTTACCAAACCCTGGGCTCAGTGTCTATCTTAAGAGGTCATGTAATTTAAACTCTTGACTTTTGGCTAGATTAAAATTTATCCAAAGAGTCAAGACCCTTCTTGTGTTAAAGATCTCTCCCAAGAATTCATTCTAGTATTTAAATTTTCTTTTTGCTATTTATTAGTCTGTTTTGCCTGTTTCCTCTTTTGAAACTGACTAATCTTCATCATAATTATTCAAGTCATCATTCTGACTCTCCTCCCACCATCCCATTGAGAATACTGGTTAAGCAGACACCTAAGGGTCTGTCTTAATATTCACCTAAAGCCAAATATAGTAGCTTAATTTCACAGAAATTCCATTGCCTTAGAATTATAATCTTCACTGTTGTTTGACTAGTTGTATTTAGAAAAGTCAGATGAAGAATATTGAGCTTATTTTAATTCTGTTAGATTGCCACGCAGAGATTCAAAACACTGGGCTTTCAGAAAGTAGTCATTCTACCAACATATAAATATAGCTTATTGTTTCTGTGCTGAAATAACAGGGCCAATTTTAAAGTGTATCTGTGAAGAAATGGAAAATAGCTTAATCTTTAACATTACAAATATAAATCACCTGATGAATAGGGCGTTTAAAGTCACATTCCTTTCCAAAATGTTCGGAACATTTTTGCATATGAATAAGATTTTTATACATGCCTGGGGCCCAGAAAATAATCTCTGGGTTTTTGCATTATCTCTCTCATCTGCTTAGAGTCCAGATTTCACTAGTAATAATTGAATCTGCAGAGAAGGACCATTCTTTCTTTGTCTGTTGACGTTCCCTT
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ATATTCCCTGGGTAGAGGCAGCCCCTATCTGTTGTGTGAGAATTGGAAGCCAGTTTGGAGGAGGAGGAGGATGATTTGTGTAATTTTTGTTAATCCTTTTAAAATGGTTTTAACGGGCAGTCCTAAACTACTGCGAACAGACCTATGCCATCTATTTCATTTACTTTCCTCACCTTTTCATTTGGAAACAATTTAAACTATAGGAAAGTTACAAAAGTAGTAAATGAATATCCCTATATCTTGTACCTAGATTTAACCAGTTTTCAGCATCTTGCTACATGTTGCTTCTCTCTTCACATACATGAACACACATTTTCCTTTCTGAACTATTTGAAAGTAAATTAAAGTCATCATGATACTTAAGCCATAAAAACCTCACTTATCACCCAAAAATAGGGACATTTTTCTAATTAAATATAATACTATTGTCACATACTGATGAAATTTAACCTTGATATGTTTTCTAATAAATAGTTTTCATAGACTGAATGAATGACTAGAATGTCCTTCATAGCAACTCCCTTCCCATTGATCTAGGATCCAGTCAAGGATCATTTATTTTAGTTGCCACGTGTATTCTCTTGTCTTCTTTAATCTAGAGTAGTCCCGCTTTGCCCATTTTGTCTTTAGTGACATTGACATTTTTGAAGACTCCAAGCAAGTTTCTTGTAGAATGTCCTATTTTCTGCATTTGGGCAGTGATTTCCTGTCTGTAGATTTGGGTCAAATATTTTCGATAGCTATACTTTCTATGTGATGCTGTGTGTTTCCCACCATGTCACATCAGGATGCCTGTGATGTCTGTTGGTCTCATTATTGTTGGTGATAAGTTGTTCTTCACCTGGTTAAGGTGGTATCCAGCAGGCCTCTTTTTTGTGAAGTTTCCTTTGTTCTTTGTAAATAAGAATAATCCCATTGAGGGAATAATTTAAGACAAAGTGAATATTCTGTTTCCCAAAAACCTTTCATTCAATGGTTTAATGGTTCTTGAATCACTTATTACATTGGTGGTTGCGATGAAATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGGAAACAGAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCCCTGGAGTGCAGTGGCGCGATCTCGGAGCTTCTCGGGAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTAAGCCTGGCTAATATTTTTGTATTTTTAGTAGAGACGCAGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCACGTGATCCACCCATCTCAGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCTGCAATGCAGATTTTTAAAAAATTAATTATTTTATTTTTATTTTTAATTGAGATGAGGTCTCACCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTAAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCATGCCCAGCCAGAAATGCTGATTTTTAATTCTCTAATTTCCTCTACATTTATTCACTGATATTTTTCCGTTAAGGTAAACTTTCCATTCCCTTCAGCGATTTTTCTGTATATATACACACACACATACATACATACACGTACATTACATCCATCCATCCTCTTCTTTACAGCAGAATATCAGCGTATAAATGTTGAGGAAATGGGAGAATTAGAAAATCACCATTTTGTAATCATATTACCAATTTCTACTTTTTTCAGATGATGGAGGAACACACAGTGGGCTGTAAGTTCAGTGGTATTGACTGAGGCCCAAACAGTGTTGTGATTGTCAGAAATATGAGAAGTAAGTGGATGGCATCTTGTCTCCTACATTTTATGTAGCCTCTTTTGTTTCCTTGTCCTGCAGGGATACCTTGGGAAAATGCTTCTTCCTACGAGTGGAAATTACTCTCCGAGGAGCTACGTATAGGATCTCATTTAGTGACACAGATCAGTTACCTCCTCCTTTCCGAATTGACAGCTTTTCTAAGGTATCAAGTGGAGCTGAGAGCCAGTTTGACTGTTTCATGTGTGGGAGGGTGGAGTGTGTACTGCCCTTGACACAATGGTACAATACATTTTCAACTTGGGTTTAAAGGAAACTATATGGATAGGTTCTTTATATCTGGACAAGCCTAGAAATCCTTACCATTAAGAGGTGTTTTCTGCTGGTTATTTTGATTGCTAGGCAGCCTTGTCCAGGCAGAAGTAATCTTTTAGCTCCCAGATTTATTTATTTTGGCTAGAGTGGTTGGTTGACACTGTGCCTTCTGTAGACATCCCGTTCAAACAGAGGAAGACATCGGCTTGTCAGTGACAATGGGAATGGGCAATTCTGCTGTTGCTTAGTTACAGTGAGCATTTTAATAAATTTTTCAAGAAAGTCAATATGGAAATCATTAGATTTTATTTTAATTATGCTTTCAAATAATAATAGGTCTTATATGTGATGATCTGTAGCCAAATTCCAAAATACTTATTTTTTTCTGTATTCAAAATATATCATAGGGGGTTTGGGCTAGAAAGATGCCATTGGAAGGATGGAATTGCTCCCCTTAGATATTTGACTTGGCAAAGCGTTTAAAGCCTTTCATTCAATAGGATATATGTATATATGTGTGTGTGTATCTGTGTGTGTGTGTGTGTGTGTGTGTAGCACATGTCTTTTAATTGGTGAGTTTTTTTGGAATGTGCAAGATGATTAGAAACATTCGAAAGGTGAGATGATGAATTTCACTGGGGCTTATTTCCTGTGTAAGATTCATTTAGGAAGGATTTGGAACTTAAACCTACAAAGCACTGACTCACTTTTCAGTAACCCCACTCTGAATGAAAGTCCTCTTTGTCCTCTCTGCCATCACTCTAGGTCCCGGTTGTCTTTACTCAGCATGGCGTAGCTGAACCCAGGCTCCGGACTGAAGTGAAGCCCATGACTTCATTGGATTATGCCTGGGACGAACCCACCTTGCCACCTTTTATCACTCTGACTGTTAAAGGGGCAGGGTCCTCTGAGATCAACTGCAACATGAATGATTTCCAGGATAATCGGCAGCTTTATTATGAAAATTTCATTTACATTGCTGCTACATATACATTCTCTGGGTAATTCTTGATTAAATTACTGTTCCTATAAAGCAGAAGGTTCTAATTATTAACAGGTTTTAAATGTTAAGCAGTTTCTTAGGAGACCAAAGTACAAAGGAAGATTCTTTCATTCTTTACCAAACCCTGGGCTCAGTGTCTATCTTAAGAGGTCATGTAATTTAAACTCTTGACTTTTGGCTAGATTAAAATTTATCCAAAGAGTCAAGACCCTTCTTGTGTTAAAGATCTCTCCCAAGAATTCATTCTAGTATTTAAATTTTCTTTTTGCTATTTATTAGTCTGTTTTGCCTGTTTCCTCTTTTGAAACTGACTAATCTTCATCATAATTATTCAAGTCATCATTCTGACTCTCCTCCCACCATCCCATTGAGAATACTGGTTAAGCAGACACCTAAGGGTCTGTCTTAATATTCACCTAAAGCCAAATATAGTAGCTTAATTTCACAGAAATTCCATTGCCTTAGAATTATAATCTTCACTGTTGTTTGACTAGTTGTATTTAGAAAAGTCAGATGAAGAATATTGAGCTTATTTTAATTCTGTTAGATTGCCACGCAGAGATTCAAAACACTGGGCTTTCAGAAAGTAGTCATTCTACCAACATATAAATATAGCTTATTGTTTCTGTGCTGAAATAACAGGGCCAATTTTAAAGTGTATCTGTGAAGAAATGGAAAATAGCTTAATCTTTAACATTACAAATATAAATCACCTGATGAATAGGGCGTTTAAAGTCACATTCCTTTCCAAAATGTTCGGAACATTTTTGCATATGAATAAGATTTTTATACATGCCTGGGGCCCAGAAAATAATCTCTGGGTTTTTGCATTATCTCTCTCATCTGCTTAGAGTCCAGATTTCACTAGTAATAATTGAATCTGCAGAGAAGGACCATTCTTTCTTTGTCTGTTGACGTTCCCTT
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Task1_train_322
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A mutation found in CELA2A (chymotrypsin like elastase 2A) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Abdominal obesity-metabolic syndrome 4
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CCGGGCGCATTTGTGCTAAGAACTAATCATTGCTGCCTACAAAAATACTTCCTCACCCTCTTGCACAAAAGTATTCTTGCCTTGAGAACCAGTGAATGTTAATCCATGAAGAGTCCCTATGCTTTGTGCTTCTGTTTCCCTGCGGAAATAAGGCAGATCTAGCTGGGTGGGGACTCAGATGAGGCAAGTAAGACATTCACTCTGGAGGCAAAATGTAAGGGGGTAGCACAAAACTCAGCAACCAGCCAGGAACAGTGGCACACACCTTTAATCCCAGCTATTCAAGGGGCTGAGGCAGGAGGATTGCTTGAGCCCAAGAGTTTGAGACCAGCATGGGCAACATAGATAGCCATCTCAAAAAAAAAAAAAAAATACAAACAAACAAAAAACCTCACTAACGAAGATGAATGATATTTTAATGCAATTTTGTTTCTTCTCCAGGAGACAGAGTCTCATTCTGTCACCCAGGCTTAATTACAGTATGAGTCACCCTGAGAGCCCTGCACAGTGGCTTATGTTCCCCATTTCCAGAGAAGGCAACTGGGACTTGGAAAGGTTACAGAATTCCCCAAAGGCACTGGGTTAGCCCGGGGGGCGAATGAGGATTCAAATCTGGTTCAGTGCTACCTCTTTAGCTACACTTTGCTGGCCACACATAATACGTATTATGTGGGCTAAATTTCACATCTGTACGATGGTTTCAGCACATTTTTAAATTGGGGGGGGGGTACATCCTTTTAAGTATCTTTTTTCACTTTTTCTAATTTTAAACATCTTTTTTAAGACCTCTTAATGTCACACAAACGAGAAATGCCAAATGGCTAATTAAAAACAACAACGTTCAGAGAAAAGCAGGCATCTGCCAACAAACAGGTCATCGTTCCCCACAGTTATAGGGAGCCCGATCAGAGCAGTCCATGCCCTACTGTCACCTCCCTCCCCTCTGCTTGGCCGTGGCAGGGAATTGAAAGACAGGGGAGGAGGAATGAAGGAACAGGAAGGGCATGGAACAGCTTCATTAGAGACTAAAACAGTGTCAAATGTCACCACCTTAAAGTTCTTTTTTTTTTTTTTTAAAGACCTGGTCTCACTCTGTTAATTTTATTTTATTTTAAAATTTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCC
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CCGGGCGCATTTGTGCTAAGAACTAATCATTGCTGCCTACAAAAATACTTCCTCACCCTCTTGCACAAAAGTATTCTTGCCTTGAGAACCAGTGAATGTTAATCCATGAAGAGTCCCTATGCTTTGTGCTTCTGTTTCCCTGCGGAAATAAGGCAGATCTAGCTGGGTGGGGACTCAGATGAGGCAAGTAAGACATTCACTCTGGAGGCAAAATGTAAGGGGGTAGCACAAAACTCAGCAACCAGCCAGGAACAGTGGCACACACCTTTAATCCCAGCTATTCAAGGGGCTGAGGCAGGAGGATTGCTTGAGCCCAAGAGTTTGAGACCAGCATGGGCAACATAGATAGCCATCTCAAAAAAAAAAAAAAAATACAAACAAACAAAAAACCTCACTAACGAAGATGAATGATATTTTAATGCAATTTTGTTTCTTCTCCAGGAGACAGAGTCTCATTCTGTCACCCAGGCTTAATTACAGTATGAGTCACCCTGAGAGCCCTGCACAGTGGCTTATGTTCCCCATTTCCAGAGAAGGCAACTGGGACTTGGAAAGGTTACAGAATTCCCCAAAGGCACTGGGTTAGCCCGGGGGGCGAATGAGGATTCAAATCTGGTTCAGTGCTACCTCTTTAGCTACACTTTGCTGGCCACACATAATACGTATTATGTGGGCTAAATTTCACATCTGTACGATGGTTTCAGCACATTTTTAAATTGGGGGGGGGGTACATCCTTTTAAGTATCTTTTTTCACTTTTTCTAATTTTAAACATCTTTTTTAAGACCTCTTAATGTCACACAAACGAGAAATGCCAAATGGCTAATTAAAAACAACAACGTTCAGAGAAAAGCAGGCATCTGCCAACAAACAGGTCATCGTTCCCCACAGTTATAGGGAGCCCGATCAGAGCAGTCCATGCCCTACTGTCACCTCCCTCCCCTCTGCTTGGCCGTGGCAGGGAATTGAAAGACAGGGGAGGAGGAATGAAGGAACAGGAAGGGCATGGAACAGCTTCATTAGAGACTAAAACAGTGTCAAATGTCACCACCTTAAAGTTCTTTTTTTTTTTTTTTAAAGACCTGGTCTCACTCTGTTAATTTTATTTTATTTTAAAATTTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGATGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCC
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Task1_train_323
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A change on Chromosome 1 affects gene CELA2A (chymotrypsin like elastase 2A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Coronary artery disorder
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TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
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TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGATGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
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Task1_train_324
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This genomic variant is located on Chromosome 1, within the CELA2A (chymotrypsin like elastase 2A) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Diabetes
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TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
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TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGATGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
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Task1_train_325
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A variant found in Chromosome 1 affects CELA2A (chymotrypsin like elastase 2A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Hypertensive disorder
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TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
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TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGATGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
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Task1_train_326
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Gene CELA2A (chymotrypsin like elastase 2A) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Hypertriglyceridemia
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TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
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TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGATGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
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Task1_train_327
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The gene CELA2A (chymotrypsin like elastase 2A) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Abdominal obesity-metabolic syndrome 4
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TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
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TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGATGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
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Task1_train_328
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The gene CELA2A (chymotrypsin like elastase 2A) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Coronary artery disorder
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ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
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ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACAACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
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Task1_train_329
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Assess the clinical impact of this variant on gene CELA2A (chymotrypsin like elastase 2A), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Diabetes
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ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
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ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACAACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
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Task1_train_330
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This alteration occurs within gene CELA2A (chymotrypsin like elastase 2A) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Hypertensive disorder
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ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
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ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACAACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
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Task1_train_331
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This variant affects gene CELA2A (chymotrypsin like elastase 2A) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hypertriglyceridemia
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ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
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ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACAACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
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Task1_train_332
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A genetic alteration is present in CELA2A (chymotrypsin like elastase 2A) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Abdominal obesity-metabolic syndrome 4
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ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
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ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACAACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
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Task1_train_333
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This gene mutation involves SPEN (spen family transcriptional repressor) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Myoepithelial tumor
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AAAAAATCAAACTGGACAGACTTAATACTGTTGCCAGCCCCAAAGACTGTCAGGAGCTTGCCAGTATTTCTGTTGGGTCTGGCTCAAGGCCCAGCTCAGACCTACAAGCAAGACTGGGAGAACTAGCAGGTGAATCTGTGGAAAATCAAGAAGTCCAATCAAAAAAGCCCATTCCCTCAAAACCACAGCTCAAACAGCTGCAGGTATTAGATGATCAAGGACCAGAGAGAGAAGACGTTAGGAAAAACTATTGCAGTCTTCGTGATGAAACACCTGAACGTAAATCAGGCCAAGAGAAATCACATTCAGTAAATACTGAAGAAAAAATTGGCATTGACATCGATCACACGCAGAGTTACCGAAAACAAATGGAACAGAGTCGTAGGAAACAGCAGATGGAAATGGAAATAGCCAAGTCTGAGAAGTTTGGCAGTCCTAAAAAAGATGTAGATGAATATGAAAGACGTAGCCTCGTTCACGAGGTAGGCAAACCCCCTCAAGATGTCACTGATGACTCTCCTCCTAGCAAAAAGAAAAGGATGGATCATGTCGATTTTGATATCTGCACCAAGCGAGAACGGAATTACAGAAGTTCACGCCAAATCAGCGAAGATTCTGAAAGGACTGGTGGTTCTCCCAGTGTCCGACATGGTTCCTTCCATGAAGATGAGGATCCCATAGGCTCCCCTAGGCTACTGTCAGTAAAAGGGTCTCCTAAAGTAGATGAAAAAGTCCTCCCCTATTCTAACATAACAGTCAGGGAAGAGTCTTTAAAATTTAATCCTTATGATTCTAGCAGGAGAGAACAGATGGCAGATATGGCCAAAATAAAACTATCTGTCTTGAATTCTGAAGATGAACTAAATCGTTGGGACTCTCAGATGAAACAGGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAAT
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AAAAAATCAAACTGGACAGACTTAATACTGTTGCCAGCCCCAAAGACTGTCAGGAGCTTGCCAGTATTTCTGTTGGGTCTGGCTCAAGGCCCAGCTCAGACCTACAAGCAAGACTGGGAGAACTAGCAGGTGAATCTGTGGAAAATCAAGAAGTCCAATCAAAAAAGCCCATTCCCTCAAAACCACAGCTCAAACAGCTGCAGGTATTAGATGATCAAGGACCAGAGAGAGAAGACGTTAGGAAAAACTATTGCAGTCTTCGTGATGAAACACCTGAACGTAAATCAGGCCAAGAGAAATCACATTCAGTAAATACTGAAGAAAAAATTGGCATTGACATCGATCACACGCAGAGTTACCGAAAACAAATGGAACAGAGTCGTAGGAAACAGCAGATGGAAATGGAAATAGCCAAGTCTGAGAAGTTTGGCAGTCCTAAAAAAGATGTAGATGAATATGAAAGACGTAGCCTCGTTCACGAGGTAGGCAAACCCCCTCAAGATGTCACTGATGACTCTCCTCCTAGCAAAAAGAAAAGGATGGATCATGTCGATTTTGATATCTGCACCAAGCGAGAACGGAATTACAGAAGTTCACGCCAAATCAGCGAAGATTCTGAAAGGACTGGTGGTTCTCCCAGTGTCCGACATGGTTCCTTCCATGAAGATGAGGATCCCATAGGCTCCCCTAGGCTACTGTCAGTAAAAGGGTCTCCTAAAGTAGATGAAAAAGTCCTCCCCTATTCTAACATAACAGTCAGGGAAGAGTCTTTAAAATTTAATCCTTATGATTCTAGCAGGAGAGAACAGATGGCAGATATGGCCAAAATAAAACTATCTGTCTTGAATTCTGAAGATGAACTAAATCGTTGGGACTCTCAGATGAAACAGGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATACCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAAT
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Task1_train_334
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Gene CLCNKA, LOC106501712 (chloride voltage-gated channel Ka| CLCNKA recombination region) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Bartter disease type 4B
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AGCCAGGTCCTCTTCCCTACCCGCGGGGGACCACTCAGGACATCATTCCTGCCTGGCTCCCACCCCACCTCTCTGCCCAGGAACCACCCTCCTGTCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCAGGCATCTGCCCTCTGCCTTTCAGGAGATACAGCCCAAGGCCTGGTCACTGTGCCTATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGGCACAGCAAGGGGCTGGGGCAGCCTGCACTTGGCACCCTTCCTTGGAGCCCCATGTGCCTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGACTAAGTGCAGTGCCAGTGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTGCAGCCAGCGGGCCAGGGGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGCCCTGGGACACGCAGAAGTCTGCTAGACCCTGGTGCTCTCTAAGCTATGGATCCTGCAGGGATACAGGTGAAAGCTATAGCTGCCAGCCCCCTTCACACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCACGGGTGGGGAGAGTGGACAGGTCAAAGGCCTTCTGGCAGGGGCAGCAGTCCTGGCATCCACTGTGCCACCACTGTCACCTGCCACAAATCCTGCCCAGCCCCCAGTGTGAGGCAAGCCAGCAGAGGGTAGCTCCAGGCTCACTCAGTGGTGGCCTGAGGTTCTGTTCAGGGCTCCTCCATCCTGACACAGCCATCTGCCAGTCCCAGTGCGAGGAACGTGGACAACTTGCATTCCTCTCTGACTCAGGCGGGGCCCCCTCAGGACTACCCCAGACTCAACTACCAGGGTCCTCCCTGCCTGGAGCCAAGCAGACCTCCAGGGAAGGGGCTGTCTGTGCCCCTTGCCCCAACATAAGCTGGGACTCCGATACCCTGCCCCAGGTGGCCTGGAGTGGCTAAAGCAGAAGGTGTTCCGCCTGGGAGAAGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTATGCCATGAACTTTGCCATCGGGTGTGTGGTCCGAGGTAACTCTTCCCTGGCAGGTGCTGCTCTGGGCCAAGGGATTCTAGGCACGCTCTGGGGATACCAGATGGGCCACCAAGTGCAGCGGTGCAGGGACGGACCTGGGTGCGGGGAGGGCTCTGGCTCTACTCCTGATTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCTCCTCAGCCGCACAAGGAAGAGAGACCTGAATATTCCCAAGAGCCCTTCCTCCTCTGAGCTCTCTGGCTCCTCTTCCAGCCACCCCGTTCCTTCTCCTTCCCTCCTCCGTGCCTTGGGGCAGGAGTGGGGACACTTGCCTAGATCACCAAACTTGGAGTCTTCCCCCTGCTCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAATGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCAATCACTAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTTTTCTTGGGGGTCTGCACCTCACTCTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGTGTCTGGCCCTGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACGCGGCTGTCCCCAGCACACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTTTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCCTCAGGCTTCTCCCAGAGCATCACGCCCTCCTCTGGAGGTGAGTCCACGGTCGCCATGCCAGTCCCCAGTGCCAAAACCTTCTCAGATCCCAGGGGGCTTCTGATGGGGGGAATCGGGAAGCTGCAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTGGCTTGCCTGAAGGCACACAGCAAGAAGGCCAGATCTTGACTCTTGGGTCACTGCTGGCCCTACTCGCTTTCCAAGGGCTCCTTGGAAGGAGATTGCCCTGTGGGGCCTGTGCTGGTGCCAGGAAGGGGCCCATGGAGGAGGTGCCGCTCCCTCAGGCCACTCAGCCCTTCCTCCAGCTCCAGGCCAGCAGAGGGGAGCTCCAGGCTCACTCAGTGGTGGCCTGAGGTTCTGTTCAGAGCTCCCCCATCCTGACACAGCCATCTGCCAGTCCCAGTGGGAGGAACGTGGACAACTCGCATTCCTCTCTGACTCTAGCATCCAAATCTGCAAAATGAGTTTATGCATCCTAACCTCTGAGGGTTCTGCGTGATCATAATAGGACTAGGTGCAGTGACTCAGTCTATAATCCCAGCACTTTGGGAGGTGGGTGGATCACTTGATCCCAGGTGTTCAAGAGCAGCTTGGACAACATGGTGAAACCCCATCTCTACAAAAAATAAAAAACAACCACCACAACAAAAAGTTAGCCAGGTGTGGTGGTGCCTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATCACTTTTGAGCCTGAGGAAGTCGGGGTTATAATGAGCCGAGATCGAACCACTGCATTCCAGCCTGGACAATAGGGTGATACCCTGTCTCAAAGGAAAAAAAAAAATCATAATGTGAAAACACCGTGCGGGTAGAGTTATGAGAGTTTTTTTTGTTTGTTTGTTCGTTTGTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGGTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCACCCGCCACCATGCCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCGCGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCAGAGAGTTTTAATCTAGAGATTGTCCCCTGCTTGTTCCTGTCCTGTCTGGCTAAGGTTCTGGAATCCCGGAGCTGAAGACCATGTTGGCGGGTGTGATCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAGGTGGTGGGCCTCTCCTGCACCCTGGCCACCGGCAGCACCCTGTTCCTGGGCAAAGTGGTATGGTCAGGTGTGAGGGCACCCCAGCCACCCCGCCCACCCTACCCTGCCCCAGCTCTCCCCCATACCCCACCAAAGCTGGGTCAGAGCAGACTCAGGCCAGTGCCTGCCTTCAGGGAGCTCAGTCTTAGGGGAAGAGCCAGGCCAGGTCCCCAGTGTGACAAAAGCTACCTGAGGACAGCCCTGGGGGTTGGGGAGATGGAGGAGGGGGTGTGGTGGGGAAGCCGTGCTGCCTCGGGGTGAGACTGTCTCTGCTGCCCTCACCTGGGCCCACCCTTCCCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTAATGATCGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCCCTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
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AGCCAGGTCCTCTTCCCTACCCGCGGGGGACCACTCAGGACATCATTCCTGCCTGGCTCCCACCCCACCTCTCTGCCCAGGAACCACCCTCCTGTCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCAGGCATCTGCCCTCTGCCTTTCAGGAGATACAGCCCAAGGCCTGGTCACTGTGCCTATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGGCACAGCAAGGGGCTGGGGCAGCCTGCACTTGGCACCCTTCCTTGGAGCCCCATGTGCCTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGACTAAGTGCAGTGCCAGTGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTGCAGCCAGCGGGCCAGGGGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGCCCTGGGACACGCAGAAGTCTGCTAGACCCTGGTGCTCTCTAAGCTATGGATCCTGCAGGGATACAGGTGAAAGCTATAGCTGCCAGCCCCCTTCACACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCACGGGTGGGGAGAGTGGACAGGTCAAAGGCCTTCTGGCAGGGGCAGCAGTCCTGGCATCCACTGTGCCACCACTGTCACCTGCCACAAATCCTGCCCAGCCCCCAGTGTGAGGCAAGCCAGCAGAGGGTAGCTCCAGGCTCACTCAGTGGTGGCCTGAGGTTCTGTTCAGGGCTCCTCCATCCTGACACAGCCATCTGCCAGTCCCAGTGCGAGGAACGTGGACAACTTGCATTCCTCTCTGACTCAGGCGGGGCCCCCTCAGGACTACCCCAGACTCAACTACCAGGGTCCTCCCTGCCTGGAGCCAAGCAGACCTCCAGGGAAGGGGCTGTCTGTGCCCCTTGCCCCAACATAAGCTGGGACTCCGATACCCTGCCCCAGGTGGCCTGGAGTGGCTAAAGCAGAAGGTGTTCCGCCTGGGAGAAGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTATGCCATGAACTTTGCCATCGGGTGTGTGGTCCGAGGTAACTCTTCCCTGGCAGGTGCTGCTCTGGGCCAAGGGATTCTAGGCACGCTCTGGGGATACCAGATGGGCCACCAAGTGCAGCGGTGCAGGGACGGACCTGGGTGCGGGGAGGGCTCTGGCTCTACTCCTGATTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCTCCTCAGCCGCACAAGGAAGAGAGACCTGAATATTCCCAAGAGCCCTTCCTCCTCTGAGCTCTCTGGCTCCTCTTCCAGCCACCCCGTTCCTTCTCCTTCCCTCCTCCGTGCCTTGGGGCAGGAGTGGGGACACTTGCCTAGATCACCAAACTTGGAGTCTTCCCCCTGCTCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAATGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCAATCACTAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTTTTCTTGGGGGTCTGCACCTCACTCTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGTGTCTGGCCCTGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACGCGGCTGTCCCCAGCACACCAGTGCCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTTTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCCTCAGGCTTCTCCCAGAGCATCACGCCCTCCTCTGGAGGTGAGTCCACGGTCGCCATGCCAGTCCCCAGTGCCAAAACCTTCTCAGATCCCAGGGGGCTTCTGATGGGGGGAATCGGGAAGCTGCAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTGGCTTGCCTGAAGGCACACAGCAAGAAGGCCAGATCTTGACTCTTGGGTCACTGCTGGCCCTACTCGCTTTCCAAGGGCTCCTTGGAAGGAGATTGCCCTGTGGGGCCTGTGCTGGTGCCAGGAAGGGGCCCATGGAGGAGGTGCCGCTCCCTCAGGCCACTCAGCCCTTCCTCCAGCTCCAGGCCAGCAGAGGGGAGCTCCAGGCTCACTCAGTGGTGGCCTGAGGTTCTGTTCAGAGCTCCCCCATCCTGACACAGCCATCTGCCAGTCCCAGTGGGAGGAACGTGGACAACTCGCATTCCTCTCTGACTCTAGCATCCAAATCTGCAAAATGAGTTTATGCATCCTAACCTCTGAGGGTTCTGCGTGATCATAATAGGACTAGGTGCAGTGACTCAGTCTATAATCCCAGCACTTTGGGAGGTGGGTGGATCACTTGATCCCAGGTGTTCAAGAGCAGCTTGGACAACATGGTGAAACCCCATCTCTACAAAAAATAAAAAACAACCACCACAACAAAAAGTTAGCCAGGTGTGGTGGTGCCTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATCACTTTTGAGCCTGAGGAAGTCGGGGTTATAATGAGCCGAGATCGAACCACTGCATTCCAGCCTGGACAATAGGGTGATACCCTGTCTCAAAGGAAAAAAAAAAATCATAATGTGAAAACACCGTGCGGGTAGAGTTATGAGAGTTTTTTTTGTTTGTTTGTTCGTTTGTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGGTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCACCCGCCACCATGCCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCGCGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCAGAGAGTTTTAATCTAGAGATTGTCCCCTGCTTGTTCCTGTCCTGTCTGGCTAAGGTTCTGGAATCCCGGAGCTGAAGACCATGTTGGCGGGTGTGATCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAGGTGGTGGGCCTCTCCTGCACCCTGGCCACCGGCAGCACCCTGTTCCTGGGCAAAGTGGTATGGTCAGGTGTGAGGGCACCCCAGCCACCCCGCCCACCCTACCCTGCCCCAGCTCTCCCCCATACCCCACCAAAGCTGGGTCAGAGCAGACTCAGGCCAGTGCCTGCCTTCAGGGAGCTCAGTCTTAGGGGAAGAGCCAGGCCAGGTCCCCAGTGTGACAAAAGCTACCTGAGGACAGCCCTGGGGGTTGGGGAGATGGAGGAGGGGGTGTGGTGGGGAAGCCGTGCTGCCTCGGGGTGAGACTGTCTCTGCTGCCCTCACCTGGGCCCACCCTTCCCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTAATGATCGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCCCTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
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Task1_train_335
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This sequence variant lies in CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Bartter disease type 3
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GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
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GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCTGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
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Task1_train_336
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The gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Bartter disease type 4B
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GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
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GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCTGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
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Task1_train_337
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A mutation in CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Bartter disease type 3
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GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
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GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCTGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
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Task1_train_338
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Mutation context: Chromosome 1, Gene LOC106501713, CLCNKB (CLCNKB recombination region| chloride voltage-gated channel Kb). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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TCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTC
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TCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCTGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTC
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Task1_train_339
|
This alteration occurs within gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Bartter disease type 3
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CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGT
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CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCATGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGT
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Task1_train_340
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This variant affects the gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Bartter disease type 4B
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CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGT
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CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCATGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGT
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Task1_train_341
|
The gene LOC106501713, CLCNKB (CLCNKB recombination region| chloride voltage-gated channel Kb) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Bartter disease type 3
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AGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAG
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AGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGATTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAG
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Task1_train_342
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Consider this mutation in CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Bartter disease type 3
|
GCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGA
|
GCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTTGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGA
|
Task1_train_343
|
A change on Chromosome 1 affects gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Bartter disease type 4B
|
GCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGA
|
GCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTTGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGA
|
Task1_train_344
|
A variant was discovered in gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Bartter disease type 3
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TGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGT
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TGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCCATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGT
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Task1_train_345
|
The gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Bartter disease type 3
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GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
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GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCAGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
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Task1_train_346
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A sequence alteration has been identified in CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Bartter disease type 3
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GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
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GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCAGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
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Task1_train_347
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A variant was discovered in gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Bartter disease type 4B
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GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
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GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCAGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
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Task1_train_348
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The variant affects gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Bartter syndrome
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GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
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GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCACCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
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Task1_train_349
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This genomic variant is located on Chromosome 1, within the CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Bartter disease type 3
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GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
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GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCACCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
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Task1_train_350
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An alteration has been detected in CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Bartter disease type 4B
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GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
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GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCACCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
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Task1_train_351
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This alteration occurs within gene EPHA2 (EPH receptor A2) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Cataract 6 multiple types
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CATCTCTGCTCCCTGGTTACGTTCCTGGTGACCTGTGTTTGACACCTTCCTAACCCCCACTATGAACGACCTCTGACATGCAGGGCTGCAACCCGGTAGAGTGGAGAAGGCTCAGGTTTGAAATTAGAACTCTGGTGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCAGAGGTGGGCAGATCACAAGGTCAAGTGATCAACACCATCTTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGTGCGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAGAAGAAAAAAAAAAGAAATTAGAACTCTGGCTTTTCTTGAGACTGCTGTGTGACTTTGGGCAAGTCGCTGCATGTCTCTGAGCCTCCATCTCCTCATCTATGAGAAAAGCATCCCACTGAGATTTCTGACCTTGCTTTCAATTCTGGCCTCTGCCCCTAACTTGCTGTGTGGCCTTGAACAAACCCAGTTGCTGGGCTCCAGCTTGGTTTTCCTTTTCTGTAAAATGGGGCCGCCCACAAAACTCATAACAAAGTGTTGAGGTTCCGACAAGCCGAAACCTGTGAAAAGCTTGTGTAAACCTCAGAGCTGTACATGGATGGTTGAAGGATCTATTTCGACAGCTCCGGGGAGCCGTGGGAGGGAAGCTGACGGCGGCTCTTGCTGTTCTCCTACCTCCCAGCCCTCCCGAAGACTCTGAGCAGCCTGGAGATCAAAGGTGATTGGGGCCTGCTGGCATGGAGGCCGGGCTCGGCAGAACCTGCTTCCCGGCCCCCTGCCCACCTCCCACCCACCCCTGCTCCCAGGGTTAAGTGACGTGTCTGCCTTGTGCACGAATCTCTGTTTAAACACTAGGGGTTTGGGGGGAACCCTCAGCCCCTCAACTCCCACCCAGGAAGCTCTGGGACCCCACTGCTTTTCCCAAGACTGAAAGCCAAGATCGGTTTGAATCATCTGCAACTTTATTCCAGAGCAGAAATAAGTCATTTTCTAACAATAAATATAAAAAAAATAATAAATTAAGATTCGAAAAAAATGTCCAACAAAACAAAATCTTTAACACTGACAGAATAGAAACTTATCCAAAAGGATGAGAGATGGGGCCGACTGGGGCATGGGCAGGACACTCCTGCAGCACCGGTCCCTGAGTCCCCAGCTCACGAATGTTTGACACCCTCTGTCCCCAGCCCTGGCGGGGCCCCCTGCCACACACACACATTCTCTCCACAAAGTACAAAATATATATTTAAAAACCTCAACACAACCAAGCATCTTGCAAAGGCCCAGGAAAGCAAGGGTTTGGCCAGTCAGGGATGAGGATGGGGCCCGAGGGTCTAAAGAAGGCACTAGAGGGACAGGGACCGCTTTGGGTCTCACCCAGTCAAGTTCACAGTCTGCCCTCTTAGTGTGAGGAAATGGGGCTTGAGGTACCCTGTTTACTTGGCGCTGGGCCAAGCCCTCCATCTCCTGAGATGGCCTCATGTGGGAGAAGGCGGAGGGAAGGTCGGCTTGGGAATATCCCATATGTCTGTCCGAAGGCTGTGGCGGGGCTCCTGCTCCAGGGATGCTGGGACGTGGCGGTGCCTGCTAAGTGCTCAGCTGTGTGCGTCTCGCAGGGAAAGAGGGCCCAGCCCAGCATCCCTGGTCATCTCCTCAGTTCAGGCCAGGGTGTCATCCGAGACCCCTCAGCGGAAGTTGCAGGGGGAGGAAAGAACTAGAAATAAATAAAGTCCCCAGTGGCCCAGCATGGCACAGCAGGGAGGCCACTCTGTTTCTTCAAGTATTCTTGGCCGATGGGGCTCCAGGCCCTGTCGAGGCTCAGATGGGGATCCCCACAGTGTTCACCTGGTCCTTGAGTCCCAGCAGGCTGTAGGCGATGCGCTTCTGGTGGCCGGGCAGCCGCACCCCAATCCTCTTGATGTCGCTGTGGGCCGGGAGGGAGAGAGGGAGAGTTAGGGGCTGGAGCAGGGGAGGGGGCCGGGCTGGGTGGGGACAGGACTCGGTGGGCGGCTGGGGAGGGGAGTGGAGGGAGGCAGAGGAGGAGGGTGGAGAGGGTGCCTTGGGGACCTGTAGGGCAAGAGAGCTCTGGTTAGGTAGGCCTGGGAGAAGGAGCCACAGCCTAGAAGCTTGCCAAGGTGGCCCACCATCAACAAAGTTAGGAAAACGACAGAAGCCTCAACTCTGTACGATGCTTTAAAAAAATAAAAATAAATCAAATCTTCTGAATTATCTGTGAGGCAGGTGCTCTTTTTCATCCCCATTTTGCAGATTAGAGAACTGAGGTCAGAGAGGTAAAGTGACTTGCCTGAAGTCACACAGCTAGGAGGTGGAAGAGCTGGGAATCAAACCAGCTATGAACAAATGCCTTCCCTCCCCTCACCCCTAGTCTGTTCCCAGTGCCCCCAGCTCAGGCCTCCTTCCCAGGAACTCTCTAGGGATGTCGCTCAAAGCCTCTCTGCCCAAGGTCTCTTCCCACCTGCTGCCTCATTTCTCCCTCACTCCTTCCAAGTTCCCACTGCTGATCATGAAGGAAGGACTTGGGAAATACTTGAAGGGTTAAACTTTGCGAGTCTTCATGGGTGAGGCTTGCGGGTCACCAGATCCAGTGACTAGGAAGATGTCTTCCCTTGGGGAAACCTCAGTTTCCTCCCGTGTAAAATGGGAGCTACTGTCCATCTGGAGGGCGAGAGACCTCAAAACCAGCAGCCGAGGGGGAAGGCAGCATCAGTACCAGATGGACAGATGTGCCCAGGAGCCCACAGCCCTGCTTTCCCACCCCCACAGGGTACACGCTCTCCTGGGGCCCCCTTCCATGCCCCTCCGTCCCCTCATGAAATCACTTATGCTCCCAGGAACCTGTGAGGAGGGCATTTATTACTCACTTTGGGAGTTTTCTCCTCCACCGTCCTCACCCACTAGCCCAAACCCATGAAAACACCCAAGTTTTTATGGGCCGACTTTTGGCTGTAAAGGGAGCTAATTATATGATGCAAGATCCTAGTTGCAGTTCTGCAGACATGACTTTCCCACAGGCTCCGGGAGCCCCGGCACAGGCGCAGAGCAGGGAAGGGCAGACCCAGGTGAGTTGGGGGGACTCCAGGACCTCCCGCAGAGGCTGGTGCTCCCACAGCAGCAGGAAGGCCGAGACATTTGGGACATTTGGGAGAACTTCCTACGCTACCTGCACAGGACGTTTCTAACCTATACAGTTGGAGGTGCTGAAAAAGCAGCAGTTTCCCACACACTTGAAGGTCTCAAATTGTGGTCCCTGGAAAAGCGCTCAGACCACGGTGAAGGAGACAGGACCCCCGGCCTGACCCCAGATTCACTCGATTTGCAGTTCCGCAGGTGGGGCAAGGAGTCTGCATTTGGTTGAATCCCAGAAGAAACCTGACATCCGGTTTAAAAACCAGTGGGTTGTAAGCTCCAGGAGGACAAGTGCTGAGACCTTGTCATCTGGGCCCATCACCCCCACAGCACCTGCTCCCGCCCCCACCCCTGCCCAGGGTCCAGGATAGGCCTGGCACATAGTAGGTCCCTAGGAAGTGTCTGCTGCATGAATGCATGAGCGAATGAATGCTTTAGCGGAGGTTGGGCCGTTGCTGGGCCACCTCTGGTCCCTCTTGCAAATGGTAGTGGTTAATCTCACAGGATGGGAGCACAGTTTGCTTTGGAGGCCCTGCGTAGAAAACTCCAAGGCCATATACTCGGTGAGCTCCTACTGTGTTCTGGCCCTGGGTGCAGGGAGACGGGAGTAAGAAATGGCTCCTGGAGCCTCACGTGTCAGATCATTCATTCATTCAGCAAGCATTCCTTCAGTGCCAAGCCTATGCCAAGGGCACTGGAGACCCTAAGATCTACAGCCTGTGCCCTCGACCCCCACACAGGATGCAAATGCTGTAGTCCCAGCTCTAGACAGAGCCTGGGGTTGGGCTATTTTTCTGGGGTGCAACAT
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CATCTCTGCTCCCTGGTTACGTTCCTGGTGACCTGTGTTTGACACCTTCCTAACCCCCACTATGAACGACCTCTGACATGCAGGGCTGCAACCCGGTAGAGTGGAGAAGGCTCAGGTTTGAAATTAGAACTCTGGTGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCAGAGGTGGGCAGATCACAAGGTCAAGTGATCAACACCATCTTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGTGCGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAGAAGAAAAAAAAAAGAAATTAGAACTCTGGCTTTTCTTGAGACTGCTGTGTGACTTTGGGCAAGTCGCTGCATGTCTCTGAGCCTCCATCTCCTCATCTATGAGAAAAGCATCCCACTGAGATTTCTGACCTTGCTTTCAATTCTGGCCTCTGCCCCTAACTTGCTGTGTGGCCTTGAACAAACCCAGTTGCTGGGCTCCAGCTTGGTTTTCCTTTTCTGTAAAATGGGGCCGCCCACAAAACTCATAACAAAGTGTTGAGGTTCCGACAAGCCGAAACCTGTGAAAAGCTTGTGTAAACCTCAGAGCTGTACATGGATGGTTGAAGGATCTATTTCGACAGCTCCGGGGAGCCGTGGGAGGGAAGCTGACGGCGGCTCTTGCTGTTCTCCTACCTCCCAGCCCTCCCGAAGACTCTGAGCAGCCTGGAGATCAAAGGTGATTGGGGCCTGCTGGCATGGAGGCCGGGCTCGGCAGAACCTGCTTCCCGGCCCCCTGCCCACCTCCCACCCACCCCTGCTCCCAGGGTTAAGTGACGTGTCTGCCTTGTGCACGAATCTCTGTTTAAACACTAGGGGTTTGGGGGGAACCCTCAGCCCCTCAACTCCCACCCAGGAAGCTCTGGGACCCCACTGCTTTTCCCAAGACTGAAAGCCAAGATCGGTTTGAATCATCTGCAACTTTATTCCAGAGCAGAAATAAGTCATTTTCTAACAATAAATATAAAAAAAATAATAAATTAAGATTCGAAAAAAATGTCCAACAAAACAAAATCTTTAACACTGACAGAATAGAAACTTATCCAAAAGGATGAGAGATGGGGCCGACTGGGGCATGGGCAGGACACTCCTGCAGCACCGGTCCCTGAGTCCCCAGCTCACGAATGTTTGACACCCTCTGTCCCCAGCCCTGGCGGGGCCCCCTGCCACACACACACATTCTCTCCACAAAGTACAAAATATATATTTAAAAACCTCAACACAACCAAGCATCTTGCAAAGGCCCAGGAAAGCAAGGGTTTGGCCAGTCAGGGATGAGGATGGGGCCCGAGGGTCTAAAGAAGGCACTAGAGGGACAGGGACCGCTTTGGGTCTCACCCAGTCAAGTTCACAGTCTGCCCTCTTAGTGTGAGGAAATGGGGCTTGAGGTACCCTGTTTACTTGGCGCTGGGCCAAGCCCTCCATCTCCTGAGATGGCCTCATGTGGGAGAAGGCGGAGGGAAGGTCGGCTTGGGAATATCCCATATGTCTGTCCGAAGGCTGTGGCGGGGCTCCTGCTCCAGGGATGCTGGGACGTGGCGGTGCCTGCTAAGTGCTCAGCTGTGTGCGTCTCGCAGGGAAAGAGGGCCCAGCCCAGCATCCCTGGTCATCTCCTCAGTTCAGGCCAGGGTGTCATCCGAGACCCCTCAGCGGAAGTTGCAGGGGGAGGAAAGAACTAGAAATAAATAAAGTCCCCAGTGGCCCAGCATGGCACAGCAGGGAGGCCACTCTGTTTCTTCAAGTATTCTTGGCCGATGGGGCTCCAGGCCCTGTCGAGGCTCAGATGGGGATCCCCACAGTGTTCACCTGGTCCTTGAGTCCCAGCAGGCTGTAGGCGATGCGCTTCTGGTGGCCGGGCAGCCGCACCCAAATCCTCTTGATGTCGCTGTGGGCCGGGAGGGAGAGAGGGAGAGTTAGGGGCTGGAGCAGGGGAGGGGGCCGGGCTGGGTGGGGACAGGACTCGGTGGGCGGCTGGGGAGGGGAGTGGAGGGAGGCAGAGGAGGAGGGTGGAGAGGGTGCCTTGGGGACCTGTAGGGCAAGAGAGCTCTGGTTAGGTAGGCCTGGGAGAAGGAGCCACAGCCTAGAAGCTTGCCAAGGTGGCCCACCATCAACAAAGTTAGGAAAACGACAGAAGCCTCAACTCTGTACGATGCTTTAAAAAAATAAAAATAAATCAAATCTTCTGAATTATCTGTGAGGCAGGTGCTCTTTTTCATCCCCATTTTGCAGATTAGAGAACTGAGGTCAGAGAGGTAAAGTGACTTGCCTGAAGTCACACAGCTAGGAGGTGGAAGAGCTGGGAATCAAACCAGCTATGAACAAATGCCTTCCCTCCCCTCACCCCTAGTCTGTTCCCAGTGCCCCCAGCTCAGGCCTCCTTCCCAGGAACTCTCTAGGGATGTCGCTCAAAGCCTCTCTGCCCAAGGTCTCTTCCCACCTGCTGCCTCATTTCTCCCTCACTCCTTCCAAGTTCCCACTGCTGATCATGAAGGAAGGACTTGGGAAATACTTGAAGGGTTAAACTTTGCGAGTCTTCATGGGTGAGGCTTGCGGGTCACCAGATCCAGTGACTAGGAAGATGTCTTCCCTTGGGGAAACCTCAGTTTCCTCCCGTGTAAAATGGGAGCTACTGTCCATCTGGAGGGCGAGAGACCTCAAAACCAGCAGCCGAGGGGGAAGGCAGCATCAGTACCAGATGGACAGATGTGCCCAGGAGCCCACAGCCCTGCTTTCCCACCCCCACAGGGTACACGCTCTCCTGGGGCCCCCTTCCATGCCCCTCCGTCCCCTCATGAAATCACTTATGCTCCCAGGAACCTGTGAGGAGGGCATTTATTACTCACTTTGGGAGTTTTCTCCTCCACCGTCCTCACCCACTAGCCCAAACCCATGAAAACACCCAAGTTTTTATGGGCCGACTTTTGGCTGTAAAGGGAGCTAATTATATGATGCAAGATCCTAGTTGCAGTTCTGCAGACATGACTTTCCCACAGGCTCCGGGAGCCCCGGCACAGGCGCAGAGCAGGGAAGGGCAGACCCAGGTGAGTTGGGGGGACTCCAGGACCTCCCGCAGAGGCTGGTGCTCCCACAGCAGCAGGAAGGCCGAGACATTTGGGACATTTGGGAGAACTTCCTACGCTACCTGCACAGGACGTTTCTAACCTATACAGTTGGAGGTGCTGAAAAAGCAGCAGTTTCCCACACACTTGAAGGTCTCAAATTGTGGTCCCTGGAAAAGCGCTCAGACCACGGTGAAGGAGACAGGACCCCCGGCCTGACCCCAGATTCACTCGATTTGCAGTTCCGCAGGTGGGGCAAGGAGTCTGCATTTGGTTGAATCCCAGAAGAAACCTGACATCCGGTTTAAAAACCAGTGGGTTGTAAGCTCCAGGAGGACAAGTGCTGAGACCTTGTCATCTGGGCCCATCACCCCCACAGCACCTGCTCCCGCCCCCACCCCTGCCCAGGGTCCAGGATAGGCCTGGCACATAGTAGGTCCCTAGGAAGTGTCTGCTGCATGAATGCATGAGCGAATGAATGCTTTAGCGGAGGTTGGGCCGTTGCTGGGCCACCTCTGGTCCCTCTTGCAAATGGTAGTGGTTAATCTCACAGGATGGGAGCACAGTTTGCTTTGGAGGCCCTGCGTAGAAAACTCCAAGGCCATATACTCGGTGAGCTCCTACTGTGTTCTGGCCCTGGGTGCAGGGAGACGGGAGTAAGAAATGGCTCCTGGAGCCTCACGTGTCAGATCATTCATTCATTCAGCAAGCATTCCTTCAGTGCCAAGCCTATGCCAAGGGCACTGGAGACCCTAAGATCTACAGCCTGTGCCCTCGACCCCCACACAGGATGCAAATGCTGTAGTCCCAGCTCTAGACAGAGCCTGGGGTTGGGCTATTTTTCTGGGGTGCAACAT
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Task1_train_352
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With a mutation on Chromosome 1 in gene EPHA2 (EPH receptor A2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Cataract 6 multiple types
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CTAGTCTAGCTAGAAACCCAACTGACTCCAAAATAGCACAAATGGAGAAGAGACAGTGGCTGTGGGACCCCAGGGGACCAGGCAGCTGGTCCCCTGGGAGGGAGTCAAGAAGGCAGGAGGCTGAGAAGGGGAGGAGGTGGGACACTGAAGCCTAAATCCTGATCCCATTGGGAAAGGCACGCATTCCCCTGCTACCAGCTCCAAGTCTCCCGTTGGGACCCATGGCGTGTGTAGACCCAGGCTTCAGGTTTTAAAAAGTCCTTTGAGATCCCCATTTATTTGGAAAGAGGCAGAGGGGAAGGAGGAGGCATGCAGGCCCCAGCTCTGAGCACCAGTGGCTGGTGGGAGGAGCGGGTGGTGGGTGGTGGGGGGCGCCGAATGACTTCCTGCCTTTATCCAGGCCCTTTCACAACAACGCGCACTGCAGCGCACACACACACAGCCTCCATCCATCCAAGACTGCCCCGTCCCTGCTCGTGGGAAAGGAATTGGCGAGGAGCACCCTGGGCTATTTAGGGAAGCTTCTAAGAACATGTGTTTCCCATAAGCACTTCTCCGTGCCCTCAGCTCTGGTCCCCAGAAGAGAGGCTGTGTTGTCCTTGGTGGGAGCCCCTGGAGGAGCAAAGGGTCTGGTGGATGTTCCCAGGAAAAAGGAGAAAAGGAGGGGGCATTTGCACAGTGCTAGGGGAGGAAAGCAAGGGAGTGGAGGAAAAGAGGAGAGCAATGAGGATTTAGCACCCACTGTATACCAGTCGTGTCATCTGCGCTGCACCCATGCAATCCCATCAAACTTGATCAAGGTCACCCGCTAGGAAGTGGCAGATGCGGGACTTGAACCCAGGTATGTGTGCAGAGCCCAAGCCTGTGGCCCTGCTGGGCTGGCGGGCAGCAAAAGACATCCTGTGATCCATCTCCCCTCCCTACGTGTCCCCGCCTCCCCTCTGGTCGGCTCTGTTCCTGCCTGCTTCCCATCACCGACTGTCCCCTGAGGGAGGCTATGGCCTTGGCCAGCAGGTTGGGAGCCCAGCTGAGCAATTTCCAAAGGCCCTAGAGAATGTTCATGAACAGGCTCAAATCCCAGAACTTCTGTGACCTAGAACCATGGGAGGCCCAGGTCATCCCCTCCATACGGTTCCCAAAACCTCCCAGCCTCCCGGTCTGTTCCCGCCATGATCTTTGACCATGCACAAGCTGGGTTGTTGAAACTGGCCACTATTTTTAGAGGCACAAAAGGCTAAGAGGATAGGGTCTCCCCCTTCCTGGGACAGGAGGAGGTGTCTGTGCCAAGGCCATGCCGGGAAAAGTCTCAATGCTGGAGTTGGGAAGGGGAGAAGAGCTGCCAAGGGGCAGCTTGACAAAGGGGCAAACCCAGGGCCAGCAGAGAGTAAGTGGCACTTCTCACCAGGTGGGACTGCAGGCTGAGAGCCAACCAAGTGGAGAGAGGTGCCCGGGGTAGGCCAGGGGTTCTCTCTCCTGGGCAGCAGTCAGGGCATCTTGGAGAAGACTGCCCCAAACTGGCTGTGTGACCTCAGGCAAGCCGGTAACATCTCAGCCTGTTTCTCTACCAATGACCTCTCCGATCCCTGCGCTCTGGGATCCCGACTGACTGGGCCTGGAATCCTGCTCTCCCCCTCATGGCTGTGGGACCCTGGGCAGGTCACTGCACTTCTCTGCATCTGTTTCTCACCTGCACCTGTTTCTCACCTGTTAACAGGACTCACCCCGCTGGGTTCTCATTCAAAGTGCTCAAGCAGAGACGGCACATAGCCCTCAGTAAACAGTAGCTACTGTTATGATTACGGTTACTATTATTTCCCCACTCTGGTAAAGGATGTAGGAAGAGGAGAGAGCTGAGAGTGGGCACCCAGAGCTGCCAGCTGCTGGCGGAGTTCTGCCCTTCTCTTCCAAGGAGCCTCTTCCCAGAAGAGAAAGAACAAAGAGAGGAGCATTGAGGGGCAGGGAAGAGGGCTGGGGGGGGCATGGAGGCAGCCTCTGGAGTGGGAGGCGGGAGGCGAGGGGGGACGGAAAGGGGCCTGACTTACTCGTTGGTCATCTGCACCACCTTCTCGATGGCAGTGTAGCCGGCCGCCATGAAGTGCTCCGTATACTGCTGCATCTTGATGGACTCCAGCCACTCGGACACCGTGCGGAAGGGCACCCCCTCCGAGCCGCTCGTGCTGGGGAGCCGGATAGACACGCTGCAACAGGAAGCACTGCAGGTGAGGGGCTGCAGCACCCAGTCCACCCTGGGCCCTGCACCTGCTGCTCCCTAACCTGGATGATTGACTCGGCTGCCCCGTGCCTCCGTCTCCTTATCTGGGCAACAGGGAAGCCCAGTCAAGTAGGGTTCAATGAGACCTCCTGGCACGTTGGGAGCGCTCAGCATCTGTAACTACTGCTGCCCCTCCACTCCTACTAACAGGACCACCACCAATAACTACCACATCATAAAATGCTACGAGCAGAGATTCCAGATCCTGAGGTCACAATCCCAGCCTGACCACTTCCAGCCATGTAAGATATTCAATCGCCCTGTGTCTCAGTTTCTTCTTCTACAAAATGAGGATCACTGGAGGACTCATCTCGTAGGTTGTTTAAATGAATGAAAACATATTAAGTGCTCACGCAGTGCCCTGCACACAGACACATAAGCTGGTTGCTTCTATTAGGATTTCCTGGGCCATCGTGTCCAGTCTAAGTCAAGTCCACACATAACCTCTTAGCCCCCAGCACCCCCCCTACCAGCTTCACCTGGGTGGCCACTCTACCGAAGTGGTTCAAGAGTCTGCAGAAGGAAAATTGAGGTCATCATGGGCAGAGGGCATAGAACTCACCGGGGGTCAAAGTCAGCCAGGGTCTTGAGGGAGTCAGGGGCACGAATGAGCTTGTCCAGGATGCTGACGATGTCAGCGAACTTGGGGCGGCGGGCACGCTCCTGCTGCCAGCACTGCATCATGAGCTGGTAGATGGCGGAGGGGCAGTCCATGGGTGTGGGGAGCCGGAAGCCATCATTGATGGCTTTCATCACCTGGCGGGGCACGAAGGTCAGGGGCGCTGTTGCAGAAAGCCACTGAAACCCTCTGCAGCCTCCAGCCTATGGAGGTGGGCAGGGGAGGGGAGGGGAACAGGAACATCCCAGAAACAGACAGGAAGGGCCTTTCTTGAGCTGCCACCCAACCTTCAGAGCTGCCCAAAGGGCAAATGCCTAAGGGTCTGTGTCCAGAGTTCACTGGAAGGGACTTTTTTTTTTTTGACTGAGACAGGGTCTCAGTCTGTCACCCAGGCTAGAGTGCAGTGGCGCTATCACACCTCACGGCAGCCTCAACCTCCTGTGCTCAGGTGATCCTCCCACCTCCGCCTCCTGAGTAGCTGAGACTACAGGCACGTGCCAACACACTTGGCTAATTTTTTAATTTTTTGTAGAGATGGGGTTTCGTCATGTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCGATACTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGCGCCATTGCTCCCAGCTAGAAGGGACCCTGCTCCCTCACAGGGCACCAGGCAGCAGCCACACTGTGTACCCTCAGCCCAGCCTCCCTCCCATCTCTCTTCCCCTCCCTCTCATCTGGCTGCCTTACAGTGCCCTTGGTCTTGGCAGAGATGTGACCTCTTCTGAGAAGCCTCCCAGGCCACCAGGCTGAGAGAGGCACCAAGCACACAGACACACACACACATGCATGCATGCACATGTGCACACATACGGATGCACACACATGCATGGACACACGGATACACACGTACACCCCACTCCTTTTTTCATCTCTGCACTCTCTGAATCAGCTCCTGGAACCCAGCACAAGGCCTGGCACGCAGTAGATCCTCAAGAAATATTTACGGGGCTGGGTGCGGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCATGTGGATCACCTGAAGCGAGGAGCTAGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAG
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CTAGTCTAGCTAGAAACCCAACTGACTCCAAAATAGCACAAATGGAGAAGAGACAGTGGCTGTGGGACCCCAGGGGACCAGGCAGCTGGTCCCCTGGGAGGGAGTCAAGAAGGCAGGAGGCTGAGAAGGGGAGGAGGTGGGACACTGAAGCCTAAATCCTGATCCCATTGGGAAAGGCACGCATTCCCCTGCTACCAGCTCCAAGTCTCCCGTTGGGACCCATGGCGTGTGTAGACCCAGGCTTCAGGTTTTAAAAAGTCCTTTGAGATCCCCATTTATTTGGAAAGAGGCAGAGGGGAAGGAGGAGGCATGCAGGCCCCAGCTCTGAGCACCAGTGGCTGGTGGGAGGAGCGGGTGGTGGGTGGTGGGGGGCGCCGAATGACTTCCTGCCTTTATCCAGGCCCTTTCACAACAACGCGCACTGCAGCGCACACACACACAGCCTCCATCCATCCAAGACTGCCCCGTCCCTGCTCGTGGGAAAGGAATTGGCGAGGAGCACCCTGGGCTATTTAGGGAAGCTTCTAAGAACATGTGTTTCCCATAAGCACTTCTCCGTGCCCTCAGCTCTGGTCCCCAGAAGAGAGGCTGTGTTGTCCTTGGTGGGAGCCCCTGGAGGAGCAAAGGGTCTGGTGGATGTTCCCAGGAAAAAGGAGAAAAGGAGGGGGCATTTGCACAGTGCTAGGGGAGGAAAGCAAGGGAGTGGAGGAAAAGAGGAGAGCAATGAGGATTTAGCACCCACTGTATACCAGTCGTGTCATCTGCGCTGCACCCATGCAATCCCATCAAACTTGATCAAGGTCACCCGCTAGGAAGTGGCAGATGCGGGACTTGAACCCAGGTATGTGTGCAGAGCCCAAGCCTGTGGCCCTGCTGGGCTGGCGGGCAGCAAAAGACATCCTGTGATCCATCTCCCCTCCCTACGTGTCCCCGCCTCCCCTCTGGTCGGCTCTGTTCCTGCCTGCTTCCCATCACCGACTGTCCCCTGAGGGAGGCTATGGCCTTGGCCAGCAGGTTGGGAGCCCAGCTGAGCAATTTCCAAAGGCCCTAGAGAATGTTCATGAACAGGCTCAAATCCCAGAACTTCTGTGACCTAGAACCATGGGAGGCCCAGGTCATCCCCTCCATACGGTTCCCAAAACCTCCCAGCCTCCCGGTCTGTTCCCGCCATGATCTTTGACCATGCACAAGCTGGGTTGTTGAAACTGGCCACTATTTTTAGAGGCACAAAAGGCTAAGAGGATAGGGTCTCCCCCTTCCTGGGACAGGAGGAGGTGTCTGTGCCAAGGCCATGCCGGGAAAAGTCTCAATGCTGGAGTTGGGAAGGGGAGAAGAGCTGCCAAGGGGCAGCTTGACAAAGGGGCAAACCCAGGGCCAGCAGAGAGTAAGTGGCACTTCTCACCAGGTGGGACTGCAGGCTGAGAGCCAACCAAGTGGAGAGAGGTGCCCGGGGTAGGCCAGGGGTTCTCTCTCCTGGGCAGCAGTCAGGGCATCTTGGAGAAGACTGCCCCAAACTGGCTGTGTGACCTCAGGCAAGCCGGTAACATCTCAGCCTGTTTCTCTACCAATGACCTCTCCGATCCCTGCGCTCTGGGATCCCGACTGACTGGGCCTGGAATCCTGCTCTCCCCCTCATGGCTGTGGGACCCTGGGCAGGTCACTGCACTTCTCTGCATCTGTTTCTCACCTGCACCTGTTTCTCACCTGTTAACAGGACTCACCCCGCTGGGTTCTCATTCAAAGTGCTCAAGCAGAGACGGCACATAGCCCTCAGTAAACAGTAGCTACTGTTATGATTACGGTTACTATTATTTCCCCACTCTGGTAAAGGATGTAGGAAGAGGAGAGAGCTGAGAGTGGGCACCCAGAGCTGCCAGCTGCTGGCGGAGTTCTGCCCTTCTCTTCCAAGGAGCCTCTTCCCAGAAGAGAAAGAACAAAGAGAGGAGCATTGAGGGGCAGGGAAGAGGGCTGGGGGGGGCATGGAGGCAGCCTCTGGAGTGGGAGGCGGGAGGCGAGGGGGGACGGAAAGGGGCCTGACTTACTCGTTGATCATCTGCACCACCTTCTCGATGGCAGTGTAGCCGGCCGCCATGAAGTGCTCCGTATACTGCTGCATCTTGATGGACTCCAGCCACTCGGACACCGTGCGGAAGGGCACCCCCTCCGAGCCGCTCGTGCTGGGGAGCCGGATAGACACGCTGCAACAGGAAGCACTGCAGGTGAGGGGCTGCAGCACCCAGTCCACCCTGGGCCCTGCACCTGCTGCTCCCTAACCTGGATGATTGACTCGGCTGCCCCGTGCCTCCGTCTCCTTATCTGGGCAACAGGGAAGCCCAGTCAAGTAGGGTTCAATGAGACCTCCTGGCACGTTGGGAGCGCTCAGCATCTGTAACTACTGCTGCCCCTCCACTCCTACTAACAGGACCACCACCAATAACTACCACATCATAAAATGCTACGAGCAGAGATTCCAGATCCTGAGGTCACAATCCCAGCCTGACCACTTCCAGCCATGTAAGATATTCAATCGCCCTGTGTCTCAGTTTCTTCTTCTACAAAATGAGGATCACTGGAGGACTCATCTCGTAGGTTGTTTAAATGAATGAAAACATATTAAGTGCTCACGCAGTGCCCTGCACACAGACACATAAGCTGGTTGCTTCTATTAGGATTTCCTGGGCCATCGTGTCCAGTCTAAGTCAAGTCCACACATAACCTCTTAGCCCCCAGCACCCCCCCTACCAGCTTCACCTGGGTGGCCACTCTACCGAAGTGGTTCAAGAGTCTGCAGAAGGAAAATTGAGGTCATCATGGGCAGAGGGCATAGAACTCACCGGGGGTCAAAGTCAGCCAGGGTCTTGAGGGAGTCAGGGGCACGAATGAGCTTGTCCAGGATGCTGACGATGTCAGCGAACTTGGGGCGGCGGGCACGCTCCTGCTGCCAGCACTGCATCATGAGCTGGTAGATGGCGGAGGGGCAGTCCATGGGTGTGGGGAGCCGGAAGCCATCATTGATGGCTTTCATCACCTGGCGGGGCACGAAGGTCAGGGGCGCTGTTGCAGAAAGCCACTGAAACCCTCTGCAGCCTCCAGCCTATGGAGGTGGGCAGGGGAGGGGAGGGGAACAGGAACATCCCAGAAACAGACAGGAAGGGCCTTTCTTGAGCTGCCACCCAACCTTCAGAGCTGCCCAAAGGGCAAATGCCTAAGGGTCTGTGTCCAGAGTTCACTGGAAGGGACTTTTTTTTTTTTGACTGAGACAGGGTCTCAGTCTGTCACCCAGGCTAGAGTGCAGTGGCGCTATCACACCTCACGGCAGCCTCAACCTCCTGTGCTCAGGTGATCCTCCCACCTCCGCCTCCTGAGTAGCTGAGACTACAGGCACGTGCCAACACACTTGGCTAATTTTTTAATTTTTTGTAGAGATGGGGTTTCGTCATGTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCGATACTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGCGCCATTGCTCCCAGCTAGAAGGGACCCTGCTCCCTCACAGGGCACCAGGCAGCAGCCACACTGTGTACCCTCAGCCCAGCCTCCCTCCCATCTCTCTTCCCCTCCCTCTCATCTGGCTGCCTTACAGTGCCCTTGGTCTTGGCAGAGATGTGACCTCTTCTGAGAAGCCTCCCAGGCCACCAGGCTGAGAGAGGCACCAAGCACACAGACACACACACACATGCATGCATGCACATGTGCACACATACGGATGCACACACATGCATGGACACACGGATACACACGTACACCCCACTCCTTTTTTCATCTCTGCACTCTCTGAATCAGCTCCTGGAACCCAGCACAAGGCCTGGCACGCAGTAGATCCTCAAGAAATATTTACGGGGCTGGGTGCGGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCATGTGGATCACCTGAAGCGAGGAGCTAGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAG
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Task1_train_353
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A variant was discovered on Chromosome 1, affecting ATP13A2 (ATPase cation transporting 13A2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Kufor-Rakeb syndrome
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TCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCAGGGCTCCTCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTAGCCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGCGCTGGGATTACTGGCATGAGCCACCGCGCCTGGCCTATTACTATTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCGCAGCCTCCCAGGCTCAAGCAACCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATGACCGGTGTGTCACCACACCTGGCTAATTTTTAAATTTTTAATAAGAGATGGGGTCTCACTTTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCACTCAAAGAGGTGGGATTACAGGAATGAGCCACCGCACCCAGCCTACAATTATTATTTTTAGCATGAAAGACCTGGGAGAGCCTGCCTGCTTTTGGTGAGGAGGGGTGACAGCTCTCTGGTGCCTGAGGAGGGAGACAGGGCCCTGGGGAAGGACAGATGAACAGACGAACGGACAAGCTCAGTCTCCGCAGGCCCTTGCCCACACCCTCTGCCGAGCACTCACTGAAGCTTCTGTAGCTCGCACACCAGCTCTGTCTTCTGCTCAGGGGCCATGCGGGCAAAGACAGTGCCCTGGACCAGGACCTGGGAGCACAGGGAGATGGGGGAGGGCTGAGGCACCCACCAGGGAGAGCGAGCCGTGAGGAAGGAGACAGAGCAGGGGAGGCGCAGGGCGGCCAGGGAGCTGGGGGCGGCCCTACCTTGGGCAGCAGCTTGGGGAAGTGCTTCACAATGATACCAAAGGTGGGCCCGCTGAGGGCCAGGTGCCTGGATCGGGGGTCTGGCTCCACGGTGTAGCTTGCAGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGA
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TCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCAGGGCTCCTCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTAGCCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCTGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGCGCTGGGATTACTGGCATGAGCCACCGCGCCTGGCCTATTACTATTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCGCAGCCTCCCAGGCTCAAGCAACCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATGACCGGTGTGTCACCACACCTGGCTAATTTTTAAATTTTTAATAAGAGATGGGGTCTCACTTTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCACTCAAAGAGGTGGGATTACAGGAATGAGCCACCGCACCCAGCCTACAATTATTATTTTTAGCATGAAAGACCTGGGAGAGCCTGCCTGCTTTTGGTGAGGAGGGGTGACAGCTCTCTGGTGCCTGAGGAGGGAGACAGGGCCCTGGGGAAGGACAGATGAACAGACGAACGGACAAGCTCAGTCTCCGCAGGCCCTTGCCCACACCCTCTGCCGAGCACTCACTGAAGCTTCTGTAGCTCGCACACCAGCTCTGTCTTCTGCTCAGGGGCCATGCGGGCAAAGACAGTGCCCTGGACCAGGACCTGGGAGCACAGGGAGATGGGGGAGGGCTGAGGCACCCACCAGGGAGAGCGAGCCGTGAGGAAGGAGACAGAGCAGGGGAGGCGCAGGGCGGCCAGGGAGCTGGGGGCGGCCCTACCTTGGGCAGCAGCTTGGGGAAGTGCTTCACAATGATACCAAAGGTGGGCCCGCTGAGGGCCAGGTGCCTGGATCGGGGGTCTGGCTCCACGGTGTAGCTTGCAGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGA
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Task1_train_354
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This alteration in ATP13A2 (ATPase cation transporting 13A2) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Kufor-Rakeb syndrome
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GCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGCGCTGGGATTACTGGCATGAGCCACCGCGCCTGGCCTATTACTATTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCGCAGCCTCCCAGGCTCAAGCAACCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATGACCGGTGTGTCACCACACCTGGCTAATTTTTAAATTTTTAATAAGAGATGGGGTCTCACTTTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCACTCAAAGAGGTGGGATTACAGGAATGAGCCACCGCACCCAGCCTACAATTATTATTTTTAGCATGAAAGACCTGGGAGAGCCTGCCTGCTTTTGGTGAGGAGGGGTGACAGCTCTCTGGTGCCTGAGGAGGGAGACAGGGCCCTGGGGAAGGACAGATGAACAGACGAACGGACAAGCTCAGTCTCCGCAGGCCCTTGCCCACACCCTCTGCCGAGCACTCACTGAAGCTTCTGTAGCTCGCACACCAGCTCTGTCTTCTGCTCAGGGGCCATGCGGGCAAAGACAGTGCCCTGGACCAGGACCTGGGAGCACAGGGAGATGGGGGAGGGCTGAGGCACCCACCAGGGAGAGCGAGCCGTGAGGAAGGAGACAGAGCAGGGGAGGCGCAGGGCGGCCAGGGAGCTGGGGGCGGCCCTACCTTGGGCAGCAGCTTGGGGAAGTGCTTCACAATGATACCAAAGGTGGGCCCGCTGAGGGCCAGGTGCCTGGATCGGGGGTCTGGCTCCACGGTGTAGCTTGCAGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGAGCTCCACATATACTCCTTTTTTTTCTTTTTTTAAGACAAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCTTCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGAGGGTGCGACCACACCAGGCTAATTTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGGCCTCAGGTGATCCCCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCACGAGCCATGTGCCCAGGCTACATATACTCCTTACTGCTGTGTGACTCTGCTGCCAAGTGCCCATGAATGTGTGTGCACATATGTGTGTGTGCAGGGGCGGGGAGGACAAGGACACAGACCTCTTAGCTCCTGCTGTCTCACCCTAGCTAGAATCTTTTTTTTTTTGAGACTGGGTCTCTCTCTGTTGCCCAGGCTGGAGTGAAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCCACCACCATACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCGTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACACTGTGCCCGGCCATTTTCGTATTCTTTGTAGAGACGGAGTTTTGCCATGTTGCCCAGGTTGGTCTTGAACTCCAGGGTTCAAGACATCCTTCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAGTACCGTGCCCGGCCAGAATCTTTCTCTTCCTGCTCCTTGAGCTTGTCACAGCCTCTGAGGCTGACATCATTATCCCCATTTCTCAGAGGTGCCACCTGGAACCCAGGCTGTCTGACAGCGCACATGGGTTCCTTGGAAGTCACTCCACTCCTCTGAGTCTCAGTTTCCTCATCTGTCAAACAGGGGTGACAATTACCACTTGCGGGGGGGATATTGTGAAGATTCACGAAATGTTTAAAAAGGACCTGGCCTGAAGCAAGGGCCCAAAAAGATGCCCCAAAAAGGAATCCCTGGTGCCCCTCTTCTCTGCCAGGAAGGGGCGGATTCTGCCCTGCTAGCCCGGGCCCCTACATGCCATTGTACCTGTCACCATGACGGCGCGGATGCGGGTCCTTCGCAGAGCCTGGATAACTGGC
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GCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGCGCTGGGATTACTGGCATGAGCCACCGCGCCTGGCCTATTACTATTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCGCAGCCTCCCAGGCTCAAGCAACCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATGACCGGTGTGTCACCACACCTGGCTAATTTTTAAATTTTTAATAAGAGATGGGGTCTCACTTTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCACTCAAAGAGGTGGGATTACAGGAATGAGCCACCGCACCCAGCCTACAATTATTATTTTTAGCATGAAAGACCTGGGAGAGCCTGCCTGCTTTTGGTGAGGAGGGGTGACAGCTCTCTGGTGCCTGAGGAGGGAGACAGGGCCCTGGGGAAGGACAGATGAACAGACGAACGGACAAGCTCAGTCTCCGCAGGCCCTTGCCCACACCCTCTGCCGAGCACTCACTGAAGCTTCTGTAGCTCGCACACCAGCTCTGTCTTCTGCTCAGGGGCCCTGCGGGCAAAGACAGTGCCCTGGACCAGGACCTGGGAGCACAGGGAGATGGGGGAGGGCTGAGGCACCCACCAGGGAGAGCGAGCCGTGAGGAAGGAGACAGAGCAGGGGAGGCGCAGGGCGGCCAGGGAGCTGGGGGCGGCCCTACCTTGGGCAGCAGCTTGGGGAAGTGCTTCACAATGATACCAAAGGTGGGCCCGCTGAGGGCCAGGTGCCTGGATCGGGGGTCTGGCTCCACGGTGTAGCTTGCAGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGAGCTCCACATATACTCCTTTTTTTTCTTTTTTTAAGACAAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCTTCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGAGGGTGCGACCACACCAGGCTAATTTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGGCCTCAGGTGATCCCCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCACGAGCCATGTGCCCAGGCTACATATACTCCTTACTGCTGTGTGACTCTGCTGCCAAGTGCCCATGAATGTGTGTGCACATATGTGTGTGTGCAGGGGCGGGGAGGACAAGGACACAGACCTCTTAGCTCCTGCTGTCTCACCCTAGCTAGAATCTTTTTTTTTTTGAGACTGGGTCTCTCTCTGTTGCCCAGGCTGGAGTGAAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCCACCACCATACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCGTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACACTGTGCCCGGCCATTTTCGTATTCTTTGTAGAGACGGAGTTTTGCCATGTTGCCCAGGTTGGTCTTGAACTCCAGGGTTCAAGACATCCTTCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAGTACCGTGCCCGGCCAGAATCTTTCTCTTCCTGCTCCTTGAGCTTGTCACAGCCTCTGAGGCTGACATCATTATCCCCATTTCTCAGAGGTGCCACCTGGAACCCAGGCTGTCTGACAGCGCACATGGGTTCCTTGGAAGTCACTCCACTCCTCTGAGTCTCAGTTTCCTCATCTGTCAAACAGGGGTGACAATTACCACTTGCGGGGGGGATATTGTGAAGATTCACGAAATGTTTAAAAAGGACCTGGCCTGAAGCAAGGGCCCAAAAAGATGCCCCAAAAAGGAATCCCTGGTGCCCCTCTTCTCTGCCAGGAAGGGGCGGATTCTGCCCTGCTAGCCCGGGCCCCTACATGCCATTGTACCTGTCACCATGACGGCGCGGATGCGGGTCCTTCGCAGAGCCTGGATAACTGGC
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Task1_train_355
|
This sequence variant lies in ATP13A2 (ATPase cation transporting 13A2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Autosomal recessive spastic paraplegia type 78
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AACTGGCGTTGTCTGCGGCTTCAGTAGGTTCCTCATGACCAGCAGCCCCAGGAGGCTCAGGTCTCCTTCCACAGTGTCCCTGGAGGGTGGGCAGACCTGGATCAGAGGTCATGCAGTGGCCAGGGCCCCTCTCCCAGCCACCAGGCAGGGCATCTTCCTTGGGCTCTGCCTGCGTGAGAGCCTCCCTCTGCCTAGTCCTCAGAGTGGGTGGGACAGGAGACAGGCCCACCTCGTCAGTTGCTGGGCTGCCTCCAGGCTGGGCACAGTGGGCAGTGGCTTGCTGGCCAGGGCCACGACACGGTAGCCAGCAGCTGTATAGCTCTGCAGCATCTGGGCGAAGTCGGTGGGCACTGCCAGGGAGAGGCAGGTGTCACAAGGAGGGGATGGCAGGGACAGAGGCTGGGTACCCACCCCATTCTGTGCCAATGCCCAACCAGGGGGACTCAGGGGCTTCCCCCTGCACCTGTCTCGGGGTTGCAGAGCCCTGCCACCAGCTCCGGGGAGCCTTTGACGTAGGCCTCGGGCTGAGTGGCCCCTGGCCACGCCACCACCACACTCATGCGCTGCAGAGCCGAAGAGAAGGGGAAGCGGTGGAGGACGCTGACTGGCACCGGGGGCTCCTCCTGCAGGGTTGGAGAGGCAGCTGAGGTGCTGGCTGGGGAGCCCACCCCTCTGCCCTGCACCCAACAGGCCCCCCTCAGCTCACCATTGCCTGCAGCTGGGGCTCCCAAAGTGGGGGTCTCATCACTGCCAAGACCTGGGTCCCAAATGCTGAGTCTGCAGCCGGCTCTTCCTCCAGGACCTGGCAGGCAGGCAGGGAAGTTTGGTGTCTGGGGGCTTTGGCTCACAGAGAGATTTGAGCTAGACTCAGGGAAGACTTCCTTCATGGGAGACTGAATGGTGGGTTAAGAATGTGGGCTTTGGAGCCCGGTGGACTCAAATTCAAACTCTAGCTTTGCTACTTACAAGCTGTTGGGTGACCTGGAATACGTCACTCCAAATCTCCCAGCCTCAGCATCCGTGAAGCAACATTTGAGCTTGCTTGCTAGGGCTTGGGGAAGAGGAAATGAGACCAGGCCTCTGTGGCCGTGCGCTGGCGCATAGTAGGCACTCAGCCTGAGGCCTTGCCATTATTATTATGTTACTTTTATTTTAAGACAGAGTCTTACTCTGTGACCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGCCTCCCGGATTCAAATGATTCTCCTGCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTTCCACCGCACTTGGCTAATTTTTGTATTTTTATTACAGACGGGGTTTCACTATGTTGGCCAGGCTGCTTTCAAACTTCCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGCACCTGGCCTATCATTATTATTTTTTGAGACAGGGTCTCGTTCTGTTACCCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCCCTGTAGCCTCGCCCTCCCGGGCTCAATTAATCCTCCCACCTCAGCCTCCTGGGACTACAGGCATGCACCACCACGCCCGGCTAATTTTTGTATTTTTGGCAGAGATGGGGTTTTGCCATGTAGGTCAGGCTGGGGTCCCGGGCTCAAGTGATCCTCCCGTCTTGGCCTCCCAAAGCGCCGGGAGCCACGTTACAGGTGTGAGCCACTGCGCCTGGCCTATTATTATTAATGGTGGGCATAATAAGAGACCACCCTGAAAGATGGAGAGGGAAGACAGGGTGGGATTCGTTAGGCCCCACTGCCCAGAGGCAGGGGGCTGACCTGCTTGGCCTCCTCACCCAGCCAGTAGACTCCACCATCTTCAAGTCCATGGGGTCGCCCACGGGGGTGTCCTGGAGCCGGCTGAGGGCATGGCAGGTGGCCAGTGCTCGGAGCAGGGGCCCCACAGGCAGGCGGCGAGGCTCTGGGACCAGGGGCAGGAATGCCTGCCCCTTCAGGGGCACCACCCCCATCACGTCTAAGCCGTCCTCAGTGAGGGTGCCCGTCTGTGGGAGACAGGTGGGTGGGGCAGCGATGAGTCCTGGGATGGGGGTACCCTGCTGAGCTGGGCCTCCAAACCCCAGGCCCGGCGGACCCTATGGGAACCCCAGGAACTCGAGCTGGAGCCAAAAGATGACCTTTCTTGACTGCTGTCCTTGGCACATGTGATTCCCTCTGCTGGGGTCCCCCTCCCCAGCCCCCACCGTCTCTCTGTCTAGCATCATCTCTTCCAGGGTGTCTTCCTCCTTAACTCCCAAGTTAGGGCAGGTGGTTTGCTCTGGGCTCCTACCCATGGCCTCTTCACTTCCCCACACTTGTGCATTGTGGTTAAGGACCCGGCCCACGGTTGGCTCGCTCTCTCTCTCTCATTTATTTATTTATTTATTTATTTATTTTTATTTTTATTTATTTTTATTTTTTGAGATGGAGTCTTGCTCTGTCGCCCGCGCTGGAGTGCAGTGGCGCAATCTCAGTTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTAGGATTATAGGCACGCGCTACCTCGCCCACCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTCAATATATCTGTTGAATGAGCGCATGAGTCAGTGCCTGCGTTCCCCATCCTAGACTCTAACTGCCCAAGTACGCGTCTGGCTCCTTGGCTAGCCTGGGAACTATAAGAATCTGGTCATCCCCCTCCCCGGTTTATTTATTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCCCAGCCTCCCGAGTAACTGGGACAACAGGCATATGTCACCGTGCCTGGCTAATTTTTTATATTTTCAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCGAAGTGCCGGGATTCCAGGCATGAGCCACTGCGCTGGGCCCCCTCCCCAGTTTAAAAGCGCTCTGTGGCCCCCGACAGCCTCTGAATGTCACCTAGCCTCTGTCAACCAGGCCACTGCCTACCCGGCCCTGTCCTGCTCCACCACTCCCTGTGCTCAGGTACGCAGCACATCTGTGCCACGCCACTCCCTGTGCCCCAGGCACACGGTACATCTGTGCTATGACACTCCCACCTTTTACCCTTGCTTCTCCTCGACCTGCCCCTCACTGAGGTCACTGAGGGACCTGCTCAGGGGGCTTCCTTGACTGCCTTCTCTCTAAGGAAGTGTCCCCATCTAGAACCCATCAAGCTATCCCACTGGCTTCCTTCCTAAAACCCACTGCCCACTCCTCAGCCCCAGCAGCTCCTTTGTGCACTCCTGGATCACTTACTTTGGTGGGGGACACACACACTCCAGTGACCACAAGGATGCCTGTGTTGGTCACTGCTGGGCCCCAAGGGTTGGGAGCAGCACGGGATGCACACTAGGGCCCCAGGTCCCCACCAGTAATTTTTTTTTTTTTTTGAGTTTTGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTTGGCTCACTGCAACCTCTGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCATCATGCCTGGCTAACTTTTGTATTTTTAGTAGACGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATGTATCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCCGGCCCCCCACCAGTTCTTGAACACATGAATACATGATTCTAGACATTTCATCTGCCAGACCGTGAGCCCAGTGAGGGCAGGAGTGGGATGGGGTGGATCCTCTGGGGGTTTCCATCCCTAGACAGGACCTGGCA
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AACTGGCGTTGTCTGCGGCTTCAGTAGGTTCCTCATGACCAGCAGCCCCAGGAGGCTCAGGTCTCCTTCCACAGTGTCCCTGGAGGGTGGGCAGACCTGGATCAGAGGTCATGCAGTGGCCAGGGCCCCTCTCCCAGCCACCAGGCAGGGCATCTTCCTTGGGCTCTGCCTGCGTGAGAGCCTCCCTCTGCCTAGTCCTCAGAGTGGGTGGGACAGGAGACAGGCCCACCTCGTCAGTTGCTGGGCTGCCTCCAGGCTGGGCACAGTGGGCAGTGGCTTGCTGGCCAGGGCCACGACACGGTAGCCAGCAGCTGTATAGCTCTGCAGCATCTGGGCGAAGTCGGTGGGCACTGCCAGGGAGAGGCAGGTGTCACAAGGAGGGGATGGCAGGGACAGAGGCTGGGTACCCACCCCATTCTGTGCCAATGCCCAACCAGGGGGACTCAGGGGCTTCCCCCTGCACCTGTCTCGGGGTTGCAGAGCCCTGCCACCAGCTCCGGGGAGCCTTTGACGTAGGCCTCGGGCTGAGTGGCCCCTGGCCACGCCACCACCACACTCATGCGCTGCAGAGCCGAAGAGAAGGGGAAGCGGTGGAGGACGCTGACTGGCACCGGGGGCTCCTCCTGCAGGGTTGGAGAGGCAGCTGAGGTGCTGGCTGGGGAGCCCACCCCTCTGCCCTGCACCCAACAGGCCCCCCTCAGCTCACCATTGCCTGCAGCTGGGGCTCCCAAAGTGGGGGTCTCATCACTGCCAAGACCTGGGTCCCAAATGCTGAGTCTGCAGCCGGCTCTTCCTCCAGGACCTGGCAGGCAGGCAGGGAAGTTTGGTGTCTGGGGGCTTTGGCTCACAGAGAGATTTGAGCTAGACTCAGGGAAGACTTCCTTCATGGGAGACTGAATGGTGGGTTAAGAATGTGGGCTTTGGAGCCCGGTGGACTCAAATTCAAACTCTAGCTTTGCTACTTACAAGCTGTTGGGTGACCTGGAATACGTCACTCCAAATCTCCCAGCCTCAGCATCCGTGAAGCAACATTTGAGCTTGCTTGCTAGGGCTTGGGGAAGAGGAAATGAGACCAGGCCTCTGTGGCCGTGCGCTGGCGCATAGTAGGCACTCAGCCTGAGGCCTTGCCATTATTATTATGTTACTTTTATTTTAAGACAGAGTCTTACTCTGTGACCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGCCTCCCGGATTCAAATGATTCTCCTGCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTTCCACCGCACTTGGCTAATTTTTGTATTTTTATTACAGACGGGGTTTCACTATGTTGGCCAGGCTGCTTTCAAACTTCCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGCACCTGGCCTATCATTATTATTTTTTGAGACAGGGTCTCGTTCTGTTACCCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCCCTGTAGCCTCGCCCTCCCGGGCTCAATTAATCCTCCCACCTCAGCCTCCTGGGACTACAGGCATGCACCACCACGCCCGGCTAATTTTTGTATTTTTGGCAGAGATGGGGTTTTGCCATGTAGGTCAGGCTGGGGTCCCGGGCTCAAGTGATCCTCCCGTCTTGGCCTCCCAAAGCGCCGGGAGCCACGTTACAGGTGTGAGCCACTGCGCCTGGCCTATTATTATTAATGGTGGGCATAATAAGAGACCACCCTGAAAGATGGAGAGGGAAGACAGGGTGGGATTCGTTAGGCCCCACTGCCCAGAGGCAGGGGGCTGACCTGCTTGGCCTCCTCACCCAGCCAGTAGACTCCACCATCTTCAAGTCCATGGGGTCGCCCACGGGGGTGTCCTGGAGCCGGCTGAGGGCATGGCAGGTGGCCAGTGCTCGGAGCAGGGGCCCCACAGGCAGGCGGCGAGGCTCTGGGACCAGGGGCAGGAATGCCTGCCCCTTCAGGGGCACCACCCCCATCACGTCTAAGCCGTCCTCAGTGAGGATGCCCGTCTGTGGGAGACAGGTGGGTGGGGCAGCGATGAGTCCTGGGATGGGGGTACCCTGCTGAGCTGGGCCTCCAAACCCCAGGCCCGGCGGACCCTATGGGAACCCCAGGAACTCGAGCTGGAGCCAAAAGATGACCTTTCTTGACTGCTGTCCTTGGCACATGTGATTCCCTCTGCTGGGGTCCCCCTCCCCAGCCCCCACCGTCTCTCTGTCTAGCATCATCTCTTCCAGGGTGTCTTCCTCCTTAACTCCCAAGTTAGGGCAGGTGGTTTGCTCTGGGCTCCTACCCATGGCCTCTTCACTTCCCCACACTTGTGCATTGTGGTTAAGGACCCGGCCCACGGTTGGCTCGCTCTCTCTCTCTCATTTATTTATTTATTTATTTATTTATTTTTATTTTTATTTATTTTTATTTTTTGAGATGGAGTCTTGCTCTGTCGCCCGCGCTGGAGTGCAGTGGCGCAATCTCAGTTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTAGGATTATAGGCACGCGCTACCTCGCCCACCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTCAATATATCTGTTGAATGAGCGCATGAGTCAGTGCCTGCGTTCCCCATCCTAGACTCTAACTGCCCAAGTACGCGTCTGGCTCCTTGGCTAGCCTGGGAACTATAAGAATCTGGTCATCCCCCTCCCCGGTTTATTTATTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCCCAGCCTCCCGAGTAACTGGGACAACAGGCATATGTCACCGTGCCTGGCTAATTTTTTATATTTTCAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCGAAGTGCCGGGATTCCAGGCATGAGCCACTGCGCTGGGCCCCCTCCCCAGTTTAAAAGCGCTCTGTGGCCCCCGACAGCCTCTGAATGTCACCTAGCCTCTGTCAACCAGGCCACTGCCTACCCGGCCCTGTCCTGCTCCACCACTCCCTGTGCTCAGGTACGCAGCACATCTGTGCCACGCCACTCCCTGTGCCCCAGGCACACGGTACATCTGTGCTATGACACTCCCACCTTTTACCCTTGCTTCTCCTCGACCTGCCCCTCACTGAGGTCACTGAGGGACCTGCTCAGGGGGCTTCCTTGACTGCCTTCTCTCTAAGGAAGTGTCCCCATCTAGAACCCATCAAGCTATCCCACTGGCTTCCTTCCTAAAACCCACTGCCCACTCCTCAGCCCCAGCAGCTCCTTTGTGCACTCCTGGATCACTTACTTTGGTGGGGGACACACACACTCCAGTGACCACAAGGATGCCTGTGTTGGTCACTGCTGGGCCCCAAGGGTTGGGAGCAGCACGGGATGCACACTAGGGCCCCAGGTCCCCACCAGTAATTTTTTTTTTTTTTTGAGTTTTGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTTGGCTCACTGCAACCTCTGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCATCATGCCTGGCTAACTTTTGTATTTTTAGTAGACGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATGTATCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCCGGCCCCCCACCAGTTCTTGAACACATGAATACATGATTCTAGACATTTCATCTGCCAGACCGTGAGCCCAGTGAGGGCAGGAGTGGGATGGGGTGGATCCTCTGGGGGTTTCCATCCCTAGACAGGACCTGGCA
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Task1_train_356
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This sequence change occurs on Chromosome 1, altering SDHB (succinate dehydrogenase complex iron sulfur subunit B). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Paragangliomas 4
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CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
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CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGAAGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
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Task1_train_357
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A genetic alteration is present in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Gastrointestinal stromal tumor
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CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
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CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGAAGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
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Task1_train_358
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A variant affecting Chromosome 1, within the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Pheochromocytoma
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CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
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CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGAAGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
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Task1_train_359
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The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGC
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CACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCGGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGC
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Task1_train_360
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This variant impacts the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Hereditary pheochromocytoma-paraganglioma
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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Task1_train_361
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A variant was discovered in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Paragangliomas 4
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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Task1_train_362
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Here is a mutation in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Hereditary cancer-predisposing syndrome
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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Task1_train_363
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This mutation occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Paragangliomas 4
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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Task1_train_364
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This mutation is located in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Gastrointestinal stromal tumor
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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Task1_train_365
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Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Pheochromocytoma
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
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Task1_train_366
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Assess the clinical impact of this variant on gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Gastrointestinal stromal tumor
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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Task1_train_367
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Mutation context: Chromosome 1, Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Paragangliomas 4
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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Task1_train_368
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Here is a mutation in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Pheochromocytoma
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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Task1_train_369
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This variant impacts the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Gastrointestinal stromal tumor
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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Task1_train_370
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Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Hereditary cancer-predisposing syndrome
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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Task1_train_371
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This mutation occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Paragangliomas 4
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
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Task1_train_372
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Here is a mutation in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Paragangliomas 4
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CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
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CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCCATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
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Task1_train_373
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A change on Chromosome 1 affects gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Pheochromocytoma
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CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
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CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCCATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
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Task1_train_374
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The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Gastrointestinal stromal tumor
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CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
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CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCCATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
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Task1_train_375
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This gene mutation involves SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Paragangliomas 4
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CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
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CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCCATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
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Task1_train_376
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A mutation on Chromosome 1 affecting SDHB (succinate dehydrogenase complex iron sulfur subunit B) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Gastrointestinal stromal tumor
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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Task1_train_377
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Assess the clinical impact of this variant on gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Hereditary pheochromocytoma-paraganglioma
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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Task1_train_378
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A variant affecting Chromosome 1, within the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Paragangliomas 4
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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Task1_train_379
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This is a variant in SDHB (succinate dehydrogenase complex iron sulfur subunit B), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Paragangliomas 4
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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Task1_train_380
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The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Pheochromocytoma
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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Task1_train_381
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Chromosome 1 houses a mutation in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Gastrointestinal stromal tumor
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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Task1_train_382
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Given this context: Chromosome 1, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Carney-Stratakis syndrome
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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Task1_train_383
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A variant found in Chromosome 1 affects SDHB (succinate dehydrogenase complex iron sulfur subunit B). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Paragangliomas 4
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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Task1_train_384
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This is a variant in SDHB (succinate dehydrogenase complex iron sulfur subunit B), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Mitochondrial complex 2 deficiency, nuclear type 4
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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Task1_train_385
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This variant affects the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Gastrointestinal stromal tumor
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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Task1_train_386
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A change on Chromosome 1 affects gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Hereditary cancer-predisposing syndrome
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
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Task1_train_387
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This mutation occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Hereditary cancer-predisposing syndrome
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TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
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TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGTAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
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Task1_train_388
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This sequence variant lies in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Gastrointestinal stromal tumor
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TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
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TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGTAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
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Task1_train_389
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A variant was discovered on Chromosome 1, affecting SDHB (succinate dehydrogenase complex iron sulfur subunit B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Pheochromocytoma
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TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
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TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGTAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
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Task1_train_390
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Consider a variant on Chromosome 1 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Determine its clinical classification and disease relevance.
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Pathogenic; Paragangliomas 4
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TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
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TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGTAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
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Task1_train_391
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The following genetic variant occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Paragangliomas 4
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TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
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TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGTAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
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Task1_train_392
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Chromosome 1 houses a mutation in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Gastrointestinal stromal tumor
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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Task1_train_393
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The variant affects gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Paragangliomas 4
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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Task1_train_394
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This variant lies on Chromosome 1 and affects the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Pheochromocytoma
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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Task1_train_395
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The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Paragangliomas 4
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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Task1_train_396
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Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Hereditary pheochromocytoma-paraganglioma
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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Task1_train_397
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A variant on Chromosome 1 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
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Task1_train_398
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Assess the clinical impact of this variant on gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Gastrointestinal stromal tumor
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CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTC
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CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACGGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTC
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Task1_train_399
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This mutation occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Paragangliomas 4
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CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTC
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CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACGGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTC
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Subsets and Splits
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