Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_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
GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCATTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
Task1_train_303
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.
Pathogenic; Peripheral neuropathy
GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCATTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAG
Task1_train_304
This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Severe early-onset axonal neuropathy due to MFN2 deficiency
GCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGC
GCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCGAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGC
Task1_train_305
This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Charcot-Marie-Tooth disease type 2
AGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTC
AGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAACTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTC
Task1_train_306
This variant affects gene MFN2 (mitofusin 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Charcot-Marie-Tooth disease type 2
AGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAG
AGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGTACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAG
Task1_train_307
The following genetic variant occurs in MFN2 (mitofusin 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Charcot-Marie-Tooth disease type 2
GTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGA
GTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCCCACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGA
Task1_train_308
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?
Pathogenic; Charcot-Marie-Tooth disease type 2
TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCTGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
Task1_train_309
This gene mutation involves MFN2 (mitofusin 2) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Charcot-Marie-Tooth disease type 2A2
TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCTGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
Task1_train_310
Here’s a variant in MFN2 (mitofusin 2) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Hereditary motor and sensory neuropathy with optic atrophy
TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCTGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGC
Task1_train_311
This variant impacts the gene MFN2 (mitofusin 2) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Pathogenic; Charcot-Marie-Tooth disease type 2
ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCT
ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCCGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCT
Task1_train_312
This alteration occurs within gene MFN2 (mitofusin 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Charcot-Marie-Tooth disease type 2A2
ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCT
ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCCGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCT
Task1_train_313
The gene MFN2 (mitofusin 2) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Charcot-Marie-Tooth disease type 2
GCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAA
GCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCCGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAA
Task1_train_314
Consider a variant on Chromosome 1 in gene MFN2 (mitofusin 2). Determine its clinical classification and disease relevance.
Pathogenic; Charcot-Marie-Tooth disease type 2
GGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCA
GGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCAGGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCA
Task1_train_315
This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Charcot-Marie-Tooth disease type 2
GCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCAGGTGAGAAATGAGGAGGAGGC
GCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATCTTTGGCACGCTCACTGCCAAGTAACCCCCACACGTTGGTCTGGGAAACTTGGTGGTGAGAGAGCAGAATAGTGGGGGACATTACACTGTGTATGTGTTTGTGCCTTTGGCTGTTGAGCCATGTGAATATATTGCCTATTCTTTTTTTTCCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCGCCTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCCAGCCTCTTATGACCTATTCTTTTAATAAAAGAGGCAGGTGGGGGCTGTGGGGCCACCTACACTCACTCTGGACACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGTAATGATGAGAACAGATGTCCTCCTTTTCTCTGATGTTTGAGACATTTTGTCTCGTGCTGAGGAGTCTGTCAGTAGAAAATCCTTCTGAGAAGGGGATGCTGAGAAGAGCAGAGAGGCTCTTGCTCTTTAGCCAGTGGCTTGGTTTCTGGGGATTTCATCGTTTTCCTCTGCTGCCAAGTTGTTTCTGGACTAATGCAGTACAATCCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGTGAGTCCTCTGATTCTGGTATCTGGCGATTCTGTGCCTCCCCAGCTCCCATTGGCTGTGTCCCTGGCAGTGAAAACCAGAGTCTGGCCCTTGGTTGTAGGCCCCTGGTGGCCCCCACCTCCCTCCGTGCCTCTGTGTGTTCCAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGTTCGGGAGCAGCAGTAAGAGTCCAAGACTGCAGATAGGTGGAGAGAGCTGCCGAGACAAGGGTGCTCCACCCCTGCCTTGGGCAGTTAGGACACGCCTTGATGGCAGGGCTGAGTCTCTGGGCTCCCATCCAGAGCCCTTTCCCTGGCCACCAGACCATGTTAGAACCACATAGACAGCCTGGTGAGGAGGGCGGCTGGGTGCTTCATCACCCCACCTGGTCTGTGCAGCACGATTCCCTGTGTTGGAGGTCTTGGCCCATGCCCTGCTGAGCTCTGCAGCCATTCTCAGAGCCTGAACACATTTTTCAAAACAACATTCCAGCCAGGAGCAGTGACTCACACCTGTGATCTCAACACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGGCCAGGAGTCCAGCCCAGATAACATAGTGAGATCCCATCTCTACAAGAATTTTAAAAATCAGCTGGGTGTGGTGGCACACACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTGGAGCCCAGGAGTTCAGGGTTCCAGTGAGCTGTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTAAAGAATAATATGAAAACACCTTGCTTCTATCACACAGAATTGACTTTCTCAGTTGTTTATGTTAAGTTAAAATTTTAAAAAGTTCAGTTCCCTTTTGATTCTTTTGCACTTGTCCCAGTGTCACTCTGCCCTGAGGCACCATAATCATGAATTTACATTGTTCTATCACCCAAACAGTACTTTTTACATAAATGCTGAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCAGGTGAGAAATGAGGAGGAGGC
Task1_train_316
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?
Pathogenic; Charcot-Marie-Tooth disease type 2
ATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACACCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACCAGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACATTTCCCCCTTTTCTATTCGACAAAACCGCCATCGTCACCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGTGGTTGGGCAGAGGCGCCCCCCACCTCCCGGATGGGGCGGCGGCCGGGCGGAGGCGCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGACTGACCCCCCACCTCCCGGACGGGGCGGCTGCTAGGCGGAGACGCTTACTTCCCAGACGGGGGCGGCTGCCTGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCAGAGACGCTCCTCACCTCCTAGACGGGGTTGTGGCTGGGCAGAGGCGCTCCTCACATCCCAGACGGGGTGGTGGGGCAGAGGCGCTCCCCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGTGCTCCTCACTTCCCAGAGTGGGCAGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCTCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCTGAGATCATGCCACTGCCTGGGCAACATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTGCCGGTTAGGAGCTGGAGACCAGCGCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAGTCGCAGGCACTGGGCAGGTTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCAGAGATGGCGGCAGTACAGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGCGGGAGAGGGAGAGGGCCATCTCCTTTTTCAAAATCAAGAAACTGAGATTTGAAAAATAGTGACGTGTCCTCTGCTACTCGGCTGATGAGCAGCAGAGTCAGGATCTCTTGTGCCCAAACCAGGGTGCACAGCTCTGTGCTGTTGCTTCTCAGGCCGTGGTGATGCTGAGTGTGTTTGGTTGTTATGATTATTCAGTCTCAGCAGGGTGTAGGAGATTCTGCCAAACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTT
ATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACACCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACCAGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACATTTCCCCCTTTTCTATTCGACAAAACCGCCATCGTCACCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGTGGTTGGGCAGAGGCGCCCCCCACCTCCCGGATGGGGCGGCGGCCGGGCGGAGGCGCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGACTGACCCCCCACCTCCCGGACGGGGCGGCTGCTAGGCGGAGACGCTTACTTCCCAGACGGGGGCGGCTGCCTGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCAGAGACGCTCCTCACCTCCTAGACGGGGTTGTGGCTGGGCAGAGGCGCTCCTCACATCCCAGACGGGGTGGTGGGGCAGAGGCGCTCCCCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGTGCTCCTCACTTCCCAGAGTGGGCAGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCTCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCTGAGATCATGCCACTGCCTGGGCAACATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTGCCGGTTAGGAGCTGGAGACCAGCGCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAGTCGCAGGCACTGGGCAGGTTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCAGAGATGGCGGCAGTACAGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGCGGGAGAGGGAGAGGGCCATCTCCTTTTTCAAAATCAAGAAACTGAGATTTGAAAAATAGTGACGTGTCCTCTGCTACTCGGCTGATGAGCAGCAGAGTCAGGATCTCTTGTGCCCAAACCAGGGTGCACAGCTCTGTGCTGTTGCTTCTCAGGCCGTGGTGATGCTGAGTGTGTTTGGTTGTTATGATTATTCAGTCTCAGCAGGGTGTAGGAGATTCTGCCAAACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCCTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTT
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
ATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACACCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACCAGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACATTTCCCCCTTTTCTATTCGACAAAACCGCCATCGTCACCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGTGGTTGGGCAGAGGCGCCCCCCACCTCCCGGATGGGGCGGCGGCCGGGCGGAGGCGCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGACTGACCCCCCACCTCCCGGACGGGGCGGCTGCTAGGCGGAGACGCTTACTTCCCAGACGGGGGCGGCTGCCTGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCAGAGACGCTCCTCACCTCCTAGACGGGGTTGTGGCTGGGCAGAGGCGCTCCTCACATCCCAGACGGGGTGGTGGGGCAGAGGCGCTCCCCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGTGCTCCTCACTTCCCAGAGTGGGCAGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCTCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCTGAGATCATGCCACTGCCTGGGCAACATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTGCCGGTTAGGAGCTGGAGACCAGCGCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAGTCGCAGGCACTGGGCAGGTTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCAGAGATGGCGGCAGTACAGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGCGGGAGAGGGAGAGGGCCATCTCCTTTTTCAAAATCAAGAAACTGAGATTTGAAAAATAGTGACGTGTCCTCTGCTACTCGGCTGATGAGCAGCAGAGTCAGGATCTCTTGTGCCCAAACCAGGGTGCACAGCTCTGTGCTGTTGCTTCTCAGGCCGTGGTGATGCTGAGTGTGTTTGGTTGTTATGATTATTCAGTCTCAGCAGGGTGTAGGAGATTCTGCCAAACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCCTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTT
Task1_train_318
Gene MFN2 (mitofusin 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Charcot-Marie-Tooth disease type 2
AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTT
AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGTCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTT
Task1_train_319
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?
Pathogenic; Charcot-Marie-Tooth disease type 2A2
AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTT
AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGTCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTT
Task1_train_320
This alteration occurs within gene MFN2 (mitofusin 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Charcot-Marie-Tooth disease type 2
TGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTTTGACATGGC
TGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTGGGGCTCAGCTGCTGGGCTTGCGTCTTGGGTGTGGACACAAATTTTTCTGGTGGGGATTTAGCTCATTCGTGTTAGATGTGTACCATGGGCTGGGCACGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTAGCTGGTCGTGGTGGTGTGTGCTTGTAATCCCAGCCACTCGACAGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTGTCTCAAAAAGAAAAAAAAAATGGATGTGTACCACGTACCTCATGGATGCCAGATGGTGCTGGAGGCTCAACAAGACACAGCGTCGCTGCCTTCAAGGCACTTGCAGTTGAAGGCATGATGGCATCACAGTACTGCGAGACTGCAGTTCACAGCGCCCTGTGCTGAACCGCAGGGCCTACAGCGCTTAACATGTGCTATTTCACTCAGTCTTCCCTATTTCTCCATTTTCTACATAGAAATGTTGGGGAACTTGTCTGGCATCTCAAAAAATGGCCAGGCTAGGAGGGGAGCCCAGGTGTACTTGGCTCCAGCAGCCCCCGCACTCTGATTCTCCTTACCTGCCACTCTTTGGACCCATGAAGAGGGCATAGCCCCCCATTTACCCACAGAGAAGCTGGTTACTTGGCTGGGGACTGGCAGAGCTGGGATTGGAACTCAGATCTCCATGGGGTCTCTGTGGAGCTTTCATTAATAATTTGCTGGAAAGAACATCAGTCTGAGGAGTCTGGAGTCCTGGGTTCTCTCCAGCCACTCATGTTTGGCCCAAGCTCTTAACTCTCCTGTGTCTCATTATTTTCATCTGTAAAATGGGAGTAAGATTTCATGACACAGCTGCATGACTGAATGTAAAAGTGCCCTGCAAAAGTCCTCGGCCTGCCCAGCTCATGATAACATCAGCACACGGGGACCCTGCAGAAGTCCTCGGCCTGCCTAGCCCATGATAGCATCAGCACACGGGGACCCTGCACTTCCTGCCCTCGCCCCTGACGTCAGAGTCTGCAGGGTGGCAGAGCCAGAGGGGAGATGGATCAGAGGGTGTCAGCTCCAACCCTCACCGGATCACTGGGCTTTCCCTGCCCTCGACTGCGGATGTGCCCCCCCCGCACCCCCACCTGGGGACAGCTGCTTCCTAGGGACACACTGCTTGCCCTCTGGGGACTCTCAGAAAGGGGGAATGGGGGGAACTGCTGCTTGTCAGCCACAGTGACACAGCTGAACCTGGAAAGGGTCTCCTGTCAGCACCTCAACCCCTTGCTTGGCAAGCAGGGAAACTGAGTTCCCGACAGCTCAGGGACTTGCACATGGTCCTGGGTGAAGGAAACACAGGGCTTGAGAATCAGAAAAGCCTAACTTGTAGCTCCCTGGCTTATTAGCCGTGTGGCCTTGGGAAGTTATTTAACCCCTCTGGGCCTCCTTTTCCCCATCTGTGAGACAGGGATAAACACGATTGTTGGAGGATGATGTAAGGGTGTGTGTCAAGCGTCCTTAGGATGGTGCCTGGCGGGTAGTCCTAATACTGCCTATCATCAGCTATCATGGTTACAAAAGAACCATTTCTTTGCAGGAATAAAGCCGGTTGGTGGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAGTGGGCACCTGAGGCGGAGTCTGCGTGGAGAGGGGCGGTGCTGCCAGCCCTAAGTGCCATGTGGGCTCCCCCAGGGGCACGTGTGGCTCCTGCCCCCTGGCCACTGCCAAGAGAATGAAGCACCCAGTCTCGTACCATTTTGAGCCCTCCAGCACTACTTATTTTCCCCCACCTTTGCCTGCTGTTGCTGGAAGAGCTGGCTCATACCCCCAAAGGACACTTTCAGCGACAGCTATGGACAGCATGGTACCAAGGAGTTAAGTTGAGGCTTTTTCCAGCTTTCTCTGGTTCATTTGATTGCTTGATAAGGCCTCAGGATCTCAGCATTGCACAATGCCTCATGGAAGCCTTTGAGGGTATCACACAGACACCCCCACCTTCCTCCAGCCTGTGCGCACCTGCCCTCCTTGCAGCCCAGCACACCTGCAGGTGTAAGGGACGATTGGAGTTTCTTCCCAGAGAGTCTGTCCCAGAAGGACTGTGGCTTGTGTGTGTCCATCTCGCCTGTTGGCTCAGTGCTTCATCCCATTTGCAGAGCCTCAGACACGTCTTGGTGGTGAGGCTCAGTTACCCCTGGGCTTAGGCTGAGGCGGGCCCTGTGCTGGGGGTGGTAGAAAGGATGCTGCTGAGGCAGCTGGAGGAGTGGGAGTAGCTCAGAGGGGAGGGCTGTTGGATGTATGGGGAGCTGGCAGAGCAGGTGGCAGTCACTGGGACAAGGAGGGACTTGCCTCTCTTCTCATTATTGTGTCCTTTGCTTTAGTGTCAGTCCTGGACTTGTGCAGGCCTGTTTTGTGTAGATCTGTTTTGGAAGATGGCATGGTCTAGGTGGTTGAAGGATGTAGTAGAAGGATGGATGGTGGAAGGTGGGGACGTTGGTGGCTGGCTGAGGTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTCCACTTGGCCTCGTTCTGCGAGGGGCTCATGGGTCTGAGAGCCCCCACCCACTAGGCTTGATTGCATCCCTGTTGTGCCCTTTAAGAGACATGTTTCCACCCCACCCCCAACCTTGTCCCAAGTGCCCTGGACTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACAATGTGGAAAACCCAGTGTCCATCTTTCCACCCTCCCTGATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGATGTTGAGTTTTGGGATTGTTACTGGTTGAAGTGGGGGCAGATGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTTGGGTGACAAATCCTGTGTGGCACAAGTTGGATCGCTTCCTAGAAATAAGCAACACCTCTCCCAAAAAGCAGCCCACAAGGCAGGGGCCCAGCAGCCCAGCCATCACTCATCTTTGAGGAAATGAGTTGGTAGCCTCTGTGCACTGTTTGGTGGCCACATCACAGGTGATGTCCTGTTCACATACCTGCTTGTATTTAAAGCCCTCAGTCTGTCCTGTTGTGTGGGGCGAAGTGATGGACTCTGCCAGGTGGACATGCTGTGGGTGGATGTTCCCGGCGTGTGCCGGGCCTGAATGGACAGGGGCCACTTCACAGCATGTCAGGGAAAATCACTGTCACACAATTCCAATGGATTTTGTGCTCTTTTTGAAAAAAAAAAATTCTTTAGCGTAAACATGAATTTTTTTTCAATGTAGCCCCTGGGGAATGAATGAAATTTTGAGCTTCTTCAATACGTAAAATTAAATTTATACCACTGAGGGAGAGACCCTTTCTGAAAGAAGTATGGCCAAAAGCACTTTAATGCTGCTGACATTGTTGTTTTTATGTTCATTTGCTGGAGCGCAAGACGTGCTGACACAGTGAGTTTTCTCTGATGTATTTAAGGTGATGTATTTGCTTGAGTTACTCCTGTATCATTGCTCATAATATTGGAAACTAAAATAAAACCTAGTTGGAAATCCTTTGTGAGATCTGTCTTTTTGGGTTCTTGTACAAACTCCTCTTTGACATGGC
Task1_train_321
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.
Pathogenic; Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
ATATTCCCTGGGTAGAGGCAGCCCCTATCTGTTGTGTGAGAATTGGAAGCCAGTTTGGAGGAGGAGGAGGATGATTTGTGTAATTTTTGTTAATCCTTTTAAAATGGTTTTAACGGGCAGTCCTAAACTACTGCGAACAGACCTATGCCATCTATTTCATTTACTTTCCTCACCTTTTCATTTGGAAACAATTTAAACTATAGGAAAGTTACAAAAGTAGTAAATGAATATCCCTATATCTTGTACCTAGATTTAACCAGTTTTCAGCATCTTGCTACATGTTGCTTCTCTCTTCACATACATGAACACACATTTTCCTTTCTGAACTATTTGAAAGTAAATTAAAGTCATCATGATACTTAAGCCATAAAAACCTCACTTATCACCCAAAAATAGGGACATTTTTCTAATTAAATATAATACTATTGTCACATACTGATGAAATTTAACCTTGATATGTTTTCTAATAAATAGTTTTCATAGACTGAATGAATGACTAGAATGTCCTTCATAGCAACTCCCTTCCCATTGATCTAGGATCCAGTCAAGGATCATTTATTTTAGTTGCCACGTGTATTCTCTTGTCTTCTTTAATCTAGAGTAGTCCCGCTTTGCCCATTTTGTCTTTAGTGACATTGACATTTTTGAAGACTCCAAGCAAGTTTCTTGTAGAATGTCCTATTTTCTGCATTTGGGCAGTGATTTCCTGTCTGTAGATTTGGGTCAAATATTTTCGATAGCTATACTTTCTATGTGATGCTGTGTGTTTCCCACCATGTCACATCAGGATGCCTGTGATGTCTGTTGGTCTCATTATTGTTGGTGATAAGTTGTTCTTCACCTGGTTAAGGTGGTATCCAGCAGGCCTCTTTTTTGTGAAGTTTCCTTTGTTCTTTGTAAATAAGAATAATCCCATTGAGGGAATAATTTAAGACAAAGTGAATATTCTGTTTCCCAAAAACCTTTCATTCAATGGTTTAATGGTTCTTGAATCACTTATTACATTGGTGGTTGCGATGAAATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGGAAACAGAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCCCTGGAGTGCAGTGGCGCGATCTCGGAGCTTCTCGGGAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTAAGCCTGGCTAATATTTTTGTATTTTTAGTAGAGACGCAGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCACGTGATCCACCCATCTCAGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCTGCAATGCAGATTTTTAAAAAATTAATTATTTTATTTTTATTTTTAATTGAGATGAGGTCTCACCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTAAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCATGCCCAGCCAGAAATGCTGATTTTTAATTCTCTAATTTCCTCTACATTTATTCACTGATATTTTTCCGTTAAGGTAAACTTTCCATTCCCTTCAGCGATTTTTCTGTATATATACACACACACATACATACATACACGTACATTACATCCATCCATCCTCTTCTTTACAGCAGAATATCAGCGTATAAATGTTGAGGAAATGGGAGAATTAGAAAATCACCATTTTGTAATCATATTACCAATTTCTACTTTTTTCAGATGATGGAGGAACACACAGTGGGCTGTAAGTTCAGTGGTATTGACTGAGGCCCAAACAGTGTTGTGATTGTCAGAAATATGAGAAGTAAGTGGATGGCATCTTGTCTCCTACATTTTATGTAGCCTCTTTTGTTTCCTTGTCCTGCAGGGATACCTTGGGAAAATGCTTCTTCCTACGAGTGGAAATTACTCTCCGAGGAGCTACGTATAGGATCTCATTTAGTGACACAGATCAGTTACCTCCTCCTTTCCGAATTGACAACTTTTCTAAGGTATCAAGTGGAGCTGAGAGCCAGTTTGACTGTTTCATGTGTGGGAGGGTGGAGTGTGTACTGCCCTTGACACAATGGTACAATACATTTTCAACTTGGGTTTAAAGGAAACTATATGGATAGGTTCTTTATATCTGGACAAGCCTAGAAATCCTTACCATTAAGAGGTGTTTTCTGCTGGTTATTTTGATTGCTAGGCAGCCTTGTCCAGGCAGAAGTAATCTTTTAGCTCCCAGATTTATTTATTTTGGCTAGAGTGGTTGGTTGACACTGTGCCTTCTGTAGACATCCCGTTCAAACAGAGGAAGACATCGGCTTGTCAGTGACAATGGGAATGGGCAATTCTGCTGTTGCTTAGTTACAGTGAGCATTTTAATAAATTTTTCAAGAAAGTCAATATGGAAATCATTAGATTTTATTTTAATTATGCTTTCAAATAATAATAGGTCTTATATGTGATGATCTGTAGCCAAATTCCAAAATACTTATTTTTTTCTGTATTCAAAATATATCATAGGGGGTTTGGGCTAGAAAGATGCCATTGGAAGGATGGAATTGCTCCCCTTAGATATTTGACTTGGCAAAGCGTTTAAAGCCTTTCATTCAATAGGATATATGTATATATGTGTGTGTGTATCTGTGTGTGTGTGTGTGTGTGTGTGTAGCACATGTCTTTTAATTGGTGAGTTTTTTTGGAATGTGCAAGATGATTAGAAACATTCGAAAGGTGAGATGATGAATTTCACTGGGGCTTATTTCCTGTGTAAGATTCATTTAGGAAGGATTTGGAACTTAAACCTACAAAGCACTGACTCACTTTTCAGTAACCCCACTCTGAATGAAAGTCCTCTTTGTCCTCTCTGCCATCACTCTAGGTCCCGGTTGTCTTTACTCAGCATGGCGTAGCTGAACCCAGGCTCCGGACTGAAGTGAAGCCCATGACTTCATTGGATTATGCCTGGGACGAACCCACCTTGCCACCTTTTATCACTCTGACTGTTAAAGGGGCAGGGTCCTCTGAGATCAACTGCAACATGAATGATTTCCAGGATAATCGGCAGCTTTATTATGAAAATTTCATTTACATTGCTGCTACATATACATTCTCTGGGTAATTCTTGATTAAATTACTGTTCCTATAAAGCAGAAGGTTCTAATTATTAACAGGTTTTAAATGTTAAGCAGTTTCTTAGGAGACCAAAGTACAAAGGAAGATTCTTTCATTCTTTACCAAACCCTGGGCTCAGTGTCTATCTTAAGAGGTCATGTAATTTAAACTCTTGACTTTTGGCTAGATTAAAATTTATCCAAAGAGTCAAGACCCTTCTTGTGTTAAAGATCTCTCCCAAGAATTCATTCTAGTATTTAAATTTTCTTTTTGCTATTTATTAGTCTGTTTTGCCTGTTTCCTCTTTTGAAACTGACTAATCTTCATCATAATTATTCAAGTCATCATTCTGACTCTCCTCCCACCATCCCATTGAGAATACTGGTTAAGCAGACACCTAAGGGTCTGTCTTAATATTCACCTAAAGCCAAATATAGTAGCTTAATTTCACAGAAATTCCATTGCCTTAGAATTATAATCTTCACTGTTGTTTGACTAGTTGTATTTAGAAAAGTCAGATGAAGAATATTGAGCTTATTTTAATTCTGTTAGATTGCCACGCAGAGATTCAAAACACTGGGCTTTCAGAAAGTAGTCATTCTACCAACATATAAATATAGCTTATTGTTTCTGTGCTGAAATAACAGGGCCAATTTTAAAGTGTATCTGTGAAGAAATGGAAAATAGCTTAATCTTTAACATTACAAATATAAATCACCTGATGAATAGGGCGTTTAAAGTCACATTCCTTTCCAAAATGTTCGGAACATTTTTGCATATGAATAAGATTTTTATACATGCCTGGGGCCCAGAAAATAATCTCTGGGTTTTTGCATTATCTCTCTCATCTGCTTAGAGTCCAGATTTCACTAGTAATAATTGAATCTGCAGAGAAGGACCATTCTTTCTTTGTCTGTTGACGTTCCCTT
ATATTCCCTGGGTAGAGGCAGCCCCTATCTGTTGTGTGAGAATTGGAAGCCAGTTTGGAGGAGGAGGAGGATGATTTGTGTAATTTTTGTTAATCCTTTTAAAATGGTTTTAACGGGCAGTCCTAAACTACTGCGAACAGACCTATGCCATCTATTTCATTTACTTTCCTCACCTTTTCATTTGGAAACAATTTAAACTATAGGAAAGTTACAAAAGTAGTAAATGAATATCCCTATATCTTGTACCTAGATTTAACCAGTTTTCAGCATCTTGCTACATGTTGCTTCTCTCTTCACATACATGAACACACATTTTCCTTTCTGAACTATTTGAAAGTAAATTAAAGTCATCATGATACTTAAGCCATAAAAACCTCACTTATCACCCAAAAATAGGGACATTTTTCTAATTAAATATAATACTATTGTCACATACTGATGAAATTTAACCTTGATATGTTTTCTAATAAATAGTTTTCATAGACTGAATGAATGACTAGAATGTCCTTCATAGCAACTCCCTTCCCATTGATCTAGGATCCAGTCAAGGATCATTTATTTTAGTTGCCACGTGTATTCTCTTGTCTTCTTTAATCTAGAGTAGTCCCGCTTTGCCCATTTTGTCTTTAGTGACATTGACATTTTTGAAGACTCCAAGCAAGTTTCTTGTAGAATGTCCTATTTTCTGCATTTGGGCAGTGATTTCCTGTCTGTAGATTTGGGTCAAATATTTTCGATAGCTATACTTTCTATGTGATGCTGTGTGTTTCCCACCATGTCACATCAGGATGCCTGTGATGTCTGTTGGTCTCATTATTGTTGGTGATAAGTTGTTCTTCACCTGGTTAAGGTGGTATCCAGCAGGCCTCTTTTTTGTGAAGTTTCCTTTGTTCTTTGTAAATAAGAATAATCCCATTGAGGGAATAATTTAAGACAAAGTGAATATTCTGTTTCCCAAAAACCTTTCATTCAATGGTTTAATGGTTCTTGAATCACTTATTACATTGGTGGTTGCGATGAAATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGGAAACAGAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCCCTGGAGTGCAGTGGCGCGATCTCGGAGCTTCTCGGGAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTAAGCCTGGCTAATATTTTTGTATTTTTAGTAGAGACGCAGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCACGTGATCCACCCATCTCAGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCTGCAATGCAGATTTTTAAAAAATTAATTATTTTATTTTTATTTTTAATTGAGATGAGGTCTCACCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTAAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCATGCCCAGCCAGAAATGCTGATTTTTAATTCTCTAATTTCCTCTACATTTATTCACTGATATTTTTCCGTTAAGGTAAACTTTCCATTCCCTTCAGCGATTTTTCTGTATATATACACACACACATACATACATACACGTACATTACATCCATCCATCCTCTTCTTTACAGCAGAATATCAGCGTATAAATGTTGAGGAAATGGGAGAATTAGAAAATCACCATTTTGTAATCATATTACCAATTTCTACTTTTTTCAGATGATGGAGGAACACACAGTGGGCTGTAAGTTCAGTGGTATTGACTGAGGCCCAAACAGTGTTGTGATTGTCAGAAATATGAGAAGTAAGTGGATGGCATCTTGTCTCCTACATTTTATGTAGCCTCTTTTGTTTCCTTGTCCTGCAGGGATACCTTGGGAAAATGCTTCTTCCTACGAGTGGAAATTACTCTCCGAGGAGCTACGTATAGGATCTCATTTAGTGACACAGATCAGTTACCTCCTCCTTTCCGAATTGACAGCTTTTCTAAGGTATCAAGTGGAGCTGAGAGCCAGTTTGACTGTTTCATGTGTGGGAGGGTGGAGTGTGTACTGCCCTTGACACAATGGTACAATACATTTTCAACTTGGGTTTAAAGGAAACTATATGGATAGGTTCTTTATATCTGGACAAGCCTAGAAATCCTTACCATTAAGAGGTGTTTTCTGCTGGTTATTTTGATTGCTAGGCAGCCTTGTCCAGGCAGAAGTAATCTTTTAGCTCCCAGATTTATTTATTTTGGCTAGAGTGGTTGGTTGACACTGTGCCTTCTGTAGACATCCCGTTCAAACAGAGGAAGACATCGGCTTGTCAGTGACAATGGGAATGGGCAATTCTGCTGTTGCTTAGTTACAGTGAGCATTTTAATAAATTTTTCAAGAAAGTCAATATGGAAATCATTAGATTTTATTTTAATTATGCTTTCAAATAATAATAGGTCTTATATGTGATGATCTGTAGCCAAATTCCAAAATACTTATTTTTTTCTGTATTCAAAATATATCATAGGGGGTTTGGGCTAGAAAGATGCCATTGGAAGGATGGAATTGCTCCCCTTAGATATTTGACTTGGCAAAGCGTTTAAAGCCTTTCATTCAATAGGATATATGTATATATGTGTGTGTGTATCTGTGTGTGTGTGTGTGTGTGTGTGTAGCACATGTCTTTTAATTGGTGAGTTTTTTTGGAATGTGCAAGATGATTAGAAACATTCGAAAGGTGAGATGATGAATTTCACTGGGGCTTATTTCCTGTGTAAGATTCATTTAGGAAGGATTTGGAACTTAAACCTACAAAGCACTGACTCACTTTTCAGTAACCCCACTCTGAATGAAAGTCCTCTTTGTCCTCTCTGCCATCACTCTAGGTCCCGGTTGTCTTTACTCAGCATGGCGTAGCTGAACCCAGGCTCCGGACTGAAGTGAAGCCCATGACTTCATTGGATTATGCCTGGGACGAACCCACCTTGCCACCTTTTATCACTCTGACTGTTAAAGGGGCAGGGTCCTCTGAGATCAACTGCAACATGAATGATTTCCAGGATAATCGGCAGCTTTATTATGAAAATTTCATTTACATTGCTGCTACATATACATTCTCTGGGTAATTCTTGATTAAATTACTGTTCCTATAAAGCAGAAGGTTCTAATTATTAACAGGTTTTAAATGTTAAGCAGTTTCTTAGGAGACCAAAGTACAAAGGAAGATTCTTTCATTCTTTACCAAACCCTGGGCTCAGTGTCTATCTTAAGAGGTCATGTAATTTAAACTCTTGACTTTTGGCTAGATTAAAATTTATCCAAAGAGTCAAGACCCTTCTTGTGTTAAAGATCTCTCCCAAGAATTCATTCTAGTATTTAAATTTTCTTTTTGCTATTTATTAGTCTGTTTTGCCTGTTTCCTCTTTTGAAACTGACTAATCTTCATCATAATTATTCAAGTCATCATTCTGACTCTCCTCCCACCATCCCATTGAGAATACTGGTTAAGCAGACACCTAAGGGTCTGTCTTAATATTCACCTAAAGCCAAATATAGTAGCTTAATTTCACAGAAATTCCATTGCCTTAGAATTATAATCTTCACTGTTGTTTGACTAGTTGTATTTAGAAAAGTCAGATGAAGAATATTGAGCTTATTTTAATTCTGTTAGATTGCCACGCAGAGATTCAAAACACTGGGCTTTCAGAAAGTAGTCATTCTACCAACATATAAATATAGCTTATTGTTTCTGTGCTGAAATAACAGGGCCAATTTTAAAGTGTATCTGTGAAGAAATGGAAAATAGCTTAATCTTTAACATTACAAATATAAATCACCTGATGAATAGGGCGTTTAAAGTCACATTCCTTTCCAAAATGTTCGGAACATTTTTGCATATGAATAAGATTTTTATACATGCCTGGGGCCCAGAAAATAATCTCTGGGTTTTTGCATTATCTCTCTCATCTGCTTAGAGTCCAGATTTCACTAGTAATAATTGAATCTGCAGAGAAGGACCATTCTTTCTTTGTCTGTTGACGTTCCCTT
Task1_train_322
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?
Pathogenic; Abdominal obesity-metabolic syndrome 4
CCGGGCGCATTTGTGCTAAGAACTAATCATTGCTGCCTACAAAAATACTTCCTCACCCTCTTGCACAAAAGTATTCTTGCCTTGAGAACCAGTGAATGTTAATCCATGAAGAGTCCCTATGCTTTGTGCTTCTGTTTCCCTGCGGAAATAAGGCAGATCTAGCTGGGTGGGGACTCAGATGAGGCAAGTAAGACATTCACTCTGGAGGCAAAATGTAAGGGGGTAGCACAAAACTCAGCAACCAGCCAGGAACAGTGGCACACACCTTTAATCCCAGCTATTCAAGGGGCTGAGGCAGGAGGATTGCTTGAGCCCAAGAGTTTGAGACCAGCATGGGCAACATAGATAGCCATCTCAAAAAAAAAAAAAAAATACAAACAAACAAAAAACCTCACTAACGAAGATGAATGATATTTTAATGCAATTTTGTTTCTTCTCCAGGAGACAGAGTCTCATTCTGTCACCCAGGCTTAATTACAGTATGAGTCACCCTGAGAGCCCTGCACAGTGGCTTATGTTCCCCATTTCCAGAGAAGGCAACTGGGACTTGGAAAGGTTACAGAATTCCCCAAAGGCACTGGGTTAGCCCGGGGGGCGAATGAGGATTCAAATCTGGTTCAGTGCTACCTCTTTAGCTACACTTTGCTGGCCACACATAATACGTATTATGTGGGCTAAATTTCACATCTGTACGATGGTTTCAGCACATTTTTAAATTGGGGGGGGGGTACATCCTTTTAAGTATCTTTTTTCACTTTTTCTAATTTTAAACATCTTTTTTAAGACCTCTTAATGTCACACAAACGAGAAATGCCAAATGGCTAATTAAAAACAACAACGTTCAGAGAAAAGCAGGCATCTGCCAACAAACAGGTCATCGTTCCCCACAGTTATAGGGAGCCCGATCAGAGCAGTCCATGCCCTACTGTCACCTCCCTCCCCTCTGCTTGGCCGTGGCAGGGAATTGAAAGACAGGGGAGGAGGAATGAAGGAACAGGAAGGGCATGGAACAGCTTCATTAGAGACTAAAACAGTGTCAAATGTCACCACCTTAAAGTTCTTTTTTTTTTTTTTTAAAGACCTGGTCTCACTCTGTTAATTTTATTTTATTTTAAAATTTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCC
CCGGGCGCATTTGTGCTAAGAACTAATCATTGCTGCCTACAAAAATACTTCCTCACCCTCTTGCACAAAAGTATTCTTGCCTTGAGAACCAGTGAATGTTAATCCATGAAGAGTCCCTATGCTTTGTGCTTCTGTTTCCCTGCGGAAATAAGGCAGATCTAGCTGGGTGGGGACTCAGATGAGGCAAGTAAGACATTCACTCTGGAGGCAAAATGTAAGGGGGTAGCACAAAACTCAGCAACCAGCCAGGAACAGTGGCACACACCTTTAATCCCAGCTATTCAAGGGGCTGAGGCAGGAGGATTGCTTGAGCCCAAGAGTTTGAGACCAGCATGGGCAACATAGATAGCCATCTCAAAAAAAAAAAAAAAATACAAACAAACAAAAAACCTCACTAACGAAGATGAATGATATTTTAATGCAATTTTGTTTCTTCTCCAGGAGACAGAGTCTCATTCTGTCACCCAGGCTTAATTACAGTATGAGTCACCCTGAGAGCCCTGCACAGTGGCTTATGTTCCCCATTTCCAGAGAAGGCAACTGGGACTTGGAAAGGTTACAGAATTCCCCAAAGGCACTGGGTTAGCCCGGGGGGCGAATGAGGATTCAAATCTGGTTCAGTGCTACCTCTTTAGCTACACTTTGCTGGCCACACATAATACGTATTATGTGGGCTAAATTTCACATCTGTACGATGGTTTCAGCACATTTTTAAATTGGGGGGGGGGTACATCCTTTTAAGTATCTTTTTTCACTTTTTCTAATTTTAAACATCTTTTTTAAGACCTCTTAATGTCACACAAACGAGAAATGCCAAATGGCTAATTAAAAACAACAACGTTCAGAGAAAAGCAGGCATCTGCCAACAAACAGGTCATCGTTCCCCACAGTTATAGGGAGCCCGATCAGAGCAGTCCATGCCCTACTGTCACCTCCCTCCCCTCTGCTTGGCCGTGGCAGGGAATTGAAAGACAGGGGAGGAGGAATGAAGGAACAGGAAGGGCATGGAACAGCTTCATTAGAGACTAAAACAGTGTCAAATGTCACCACCTTAAAGTTCTTTTTTTTTTTTTTTAAAGACCTGGTCTCACTCTGTTAATTTTATTTTATTTTAAAATTTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGATGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCC
Task1_train_323
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.
Pathogenic; Coronary artery disorder
TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGATGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
Task1_train_324
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?
Pathogenic; Diabetes
TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGATGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
Task1_train_325
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?
Pathogenic; Hypertensive disorder
TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGATGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
Task1_train_326
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?
Pathogenic; Hypertriglyceridemia
TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGATGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
Task1_train_327
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?
Pathogenic; Abdominal obesity-metabolic syndrome 4
TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACGCAGCGGTAGCAGGGAGAAGTGCCGAGCAAAAGTGGGGGAAAGACCCTTATAAAACCATCAGATCTTGTGAGAACTTACTCACTATCATGAAAACAGCATGGAGGTGACCACCCTCATGATTCAATTACCTCCCACCAGGTCCCTCGCACGACAAATGGGGATTATAAGAACTATAATTCAAGATGAGATTTGGGTAGGGACACAGCCAAACCTTATCAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCCGAAGTGTTGGGATTACAAGCATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGATGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTT
Task1_train_328
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.
Pathogenic; Coronary artery disorder
ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACAACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
Task1_train_329
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.
Pathogenic; Diabetes
ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACAACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
Task1_train_330
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?
Pathogenic; Hypertensive disorder
ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACAACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
Task1_train_331
This variant affects gene CELA2A (chymotrypsin like elastase 2A) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Hypertriglyceridemia
ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACAACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
Task1_train_332
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?
Pathogenic; Abdominal obesity-metabolic syndrome 4
ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTAACTGCCTTTCCCTGGGCGCTTGGCCTGCTCACCAGCTGGTGCTCATTTCTGAGCTGGGGGCTCAAATGGCCTGAACCATGCTACATAAAGCAGCCTTGCAAATAACCACTATACTGGCTGAGACACAAGCTGTAGTCAATCAATGGTTCAGTGTGTTGGCCCATCAATGTCAGTACATGGCATGGATGGAGTGTCTGTGCCAGGCAGGCACTGAGGGAGGATGAAGAGGAGGGGAAGGCCCAATCTCTGCCCTCTTGGGGAAACTACATGTGGCCTCTGGATCTGGAATTGGGTTCCCTTGAACAACTTAACTGACTTCTCAAAGCTTCAATACCATCACCTGCAGAAAAATGGAGTAACAGAATTTAGTGTGAATTCAATGAGTTGATTTACCAAAGGGCCTGGCACTTAGTAAGTGCTCAGTGAAAGCTAATTCTGAATTATAGATGAATTATAAAGGCCCACAAGGTTCTGCAACGTTGTTCACTTATCCTCTTCTTTGTCCGTGACCTCTGCTCATCACAGCTGGAACTCACCGGAGTTTCTGCCGGGTCGGCGTGACTCCCTACCAGGAGTGATCCCTTCTCCCATCCGATTTATAATAAGCTCTAGGAGGTATTGGGGAAAATAATAGAGGCCTACAGTCAGGAGTCCTGGCTTGTAGTTCTGGTTTCTCACTAACGGTGGGACTCTGGGCCAGGTTACGCCTCTCTGGGCCTCAGTTTCCCCATCTGCAAATGAAAGGTGGGAAAAATGTCCTTGAGGGCAAATGACTCCTGTTTTCTCTGTGTTCATCTCATTCCCTCCATAAGAACTATAGAGTTTGTGTTATTATAACTTTTATTTTATATTGTAGTTTATAGTTAGTATAGTAACAATTATTATATGATCATAGTTCTTAGGTTATATACTTTAGGCCCTATTATAACTAACTGATTGTCCCAGGGGAGGAAAGATCCCCAAGTCCCATCTAGTGGCTCACGCAGCAGCCAGTTACTTGGGTCTATCCCCAGCATTATCCAAAGCCAGGCCTCTGGAGGTGACCCTCTCCCTGGGCCCCCTTTCTCCCAGCTCCTCCAGGACCTACCGCGTGGGGCTGGGCCGGCACAACCTCTACGTTGCGGAGTCCGGCTCGCTGGCAGTCAGTGTCTCTAAGATTGTGGTGCACAAGGACTGGAACTCCAACCAAATCTCCAAAGGGTTCGTTTCTGTCTGGGTGCACTTGGGGGTGAGGTTGTCAGGGAACAGATGGGGGTCTCACAGAGGCAAGGGTCTCAACCACACCACACCCCCTCTGCTTCTTCTACAGGGAGGGGGAAGGAGCTCTGGCCTCTTAGATGTGGAACCAGCTCCAAAGATGTCTGGGGTGGGGATGTGACCTGGGGAGGGTGAAGCAAAGACTGCCAGAGCGACCTGGGTTTGCTGCCAGTTACACCTGCAGGGCCCCTGTCCGCTGAGCATGTATCTACTTCATGCCAGGTCCTGGGGACACAGGGACAGTGCTGTCAACCCTGTGACTGTCCCTGGAGTAGGACACAATCTCTCCTGCCTTCCCCCTTTCAACAAGGCCCTCTGCATTTTCAAACATGCCCTGGGGCCCTGCCAGTCAGAGCAACCTGGGGTAACAGGGTACAGGGAAGATGACAAGGTCTCCAAGCCCTCCAAAGCCCACAGGGCAGGAAAAGTCAACCCGGTCCTCATGCTTCGCCTCCACACTCACCCAGGAACAACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGAGTAAGTGGGAGCCAGGAGCCCCCAGGCCTGGGAGGGAAGGGAGGTGATTCACGTCACCCCTGTCTGGCCGGGGCCTCTCACCTGTCATCCCAGGGTGTGTGGCTGCCTTGGAGAGACGGGATGGCATAGGCTGACGCCTGCCTGGGATCAAATGTCAGCTCTCCCACTTAATGACTGTGACACCTTGGACACATTACTAGGTCTCTCCATGCAGCACTTTTTTCATCTGTAAAATGCAAATATTTGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCCATCCCGCGGATCACTTGAGGTCAGGAGACCAGCCTGACCAACACGGAGAAACTCTGTCTCTACTAAAAATATTAAAAAAAAAAAAAATAGCAGGATGTGGCAGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTTCGCTACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGCCTCAAAAACAAAAGGCATAATAATAGCACCTACATCACAGAGTTGTCACGAGGATTAAAGGAGATAATCCATAGGAAGCCCAGAATGGGGTAGGTGCTGTGTTAGTTGTTGTCACTGTCCCTATGATGGAGAGAAAGTTACAGAGACCATGTGACATCTTCTGTGTGGCCCAAGGCTAGAGTTCAGAACAGCATTTTCCTCTGTGACCTGAGACCCCTGGAGCCCTCATCAGACCCTCCATGCCCCATAGCAAAAGCTGTCCCCTGTGCCATTAGGTCTTGCTGCTCAGAACCTGAATGAGGGCGGGTCTCCTTTGACATAGACTCCAAGGGTCAGAGATCCAATGACAGTAGCCACCAAGAGGAACAGAGTTCCCGCCCTTCCCTTGTGAAATCACCAGAGGTTTGGAAGATTCTAGGAAGGGATGAGTAATAATGACCTTATGACCATAATGAGATTATGAGTGTTAATCACATTATGACATTTTTTCCTAATGACATAAACCCATAAGTATAATGACATGTTTTTCCAGGGGTACATCCACATACGTACCCTCAAATAATTCCCATTGCCCTCTTGACTGGCTTATCTGTAAACACAAGGACACATCAAATCCTGCGGTGAGCGGTGGTGGAAGAGGCATTTCATGCTTATTAAGATACAAGCACAACCTCCTGTTTGTTTCCCCAGACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAGGTGAAAATGCATCATACATTGCAAAATGTTATGCAAGTGTTAATTAATTACTTATTAGTGGTCTTAAGCCAGACACTTAACTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTATAGGCGAGTGCCACCATGCCCGGGTAATTTTTGTATTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCTAAGCGCTGGGATTAGAGGGTGAGCACCGCGCCCGACCGACACTTAACTTCCCTAGGCTTCAATCGGAAGTGAAGAATTGTGTTAATCTCATCCTTGCCACTCATAGCTGTGGTAACAGTAATGGAGGTGATGGTGGCTGTGTCATTGGGGGCCATTATGAAAGCCC
Task1_train_333
This gene mutation involves SPEN (spen family transcriptional repressor) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Myoepithelial tumor
AAAAAATCAAACTGGACAGACTTAATACTGTTGCCAGCCCCAAAGACTGTCAGGAGCTTGCCAGTATTTCTGTTGGGTCTGGCTCAAGGCCCAGCTCAGACCTACAAGCAAGACTGGGAGAACTAGCAGGTGAATCTGTGGAAAATCAAGAAGTCCAATCAAAAAAGCCCATTCCCTCAAAACCACAGCTCAAACAGCTGCAGGTATTAGATGATCAAGGACCAGAGAGAGAAGACGTTAGGAAAAACTATTGCAGTCTTCGTGATGAAACACCTGAACGTAAATCAGGCCAAGAGAAATCACATTCAGTAAATACTGAAGAAAAAATTGGCATTGACATCGATCACACGCAGAGTTACCGAAAACAAATGGAACAGAGTCGTAGGAAACAGCAGATGGAAATGGAAATAGCCAAGTCTGAGAAGTTTGGCAGTCCTAAAAAAGATGTAGATGAATATGAAAGACGTAGCCTCGTTCACGAGGTAGGCAAACCCCCTCAAGATGTCACTGATGACTCTCCTCCTAGCAAAAAGAAAAGGATGGATCATGTCGATTTTGATATCTGCACCAAGCGAGAACGGAATTACAGAAGTTCACGCCAAATCAGCGAAGATTCTGAAAGGACTGGTGGTTCTCCCAGTGTCCGACATGGTTCCTTCCATGAAGATGAGGATCCCATAGGCTCCCCTAGGCTACTGTCAGTAAAAGGGTCTCCTAAAGTAGATGAAAAAGTCCTCCCCTATTCTAACATAACAGTCAGGGAAGAGTCTTTAAAATTTAATCCTTATGATTCTAGCAGGAGAGAACAGATGGCAGATATGGCCAAAATAAAACTATCTGTCTTGAATTCTGAAGATGAACTAAATCGTTGGGACTCTCAGATGAAACAGGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAAT
AAAAAATCAAACTGGACAGACTTAATACTGTTGCCAGCCCCAAAGACTGTCAGGAGCTTGCCAGTATTTCTGTTGGGTCTGGCTCAAGGCCCAGCTCAGACCTACAAGCAAGACTGGGAGAACTAGCAGGTGAATCTGTGGAAAATCAAGAAGTCCAATCAAAAAAGCCCATTCCCTCAAAACCACAGCTCAAACAGCTGCAGGTATTAGATGATCAAGGACCAGAGAGAGAAGACGTTAGGAAAAACTATTGCAGTCTTCGTGATGAAACACCTGAACGTAAATCAGGCCAAGAGAAATCACATTCAGTAAATACTGAAGAAAAAATTGGCATTGACATCGATCACACGCAGAGTTACCGAAAACAAATGGAACAGAGTCGTAGGAAACAGCAGATGGAAATGGAAATAGCCAAGTCTGAGAAGTTTGGCAGTCCTAAAAAAGATGTAGATGAATATGAAAGACGTAGCCTCGTTCACGAGGTAGGCAAACCCCCTCAAGATGTCACTGATGACTCTCCTCCTAGCAAAAAGAAAAGGATGGATCATGTCGATTTTGATATCTGCACCAAGCGAGAACGGAATTACAGAAGTTCACGCCAAATCAGCGAAGATTCTGAAAGGACTGGTGGTTCTCCCAGTGTCCGACATGGTTCCTTCCATGAAGATGAGGATCCCATAGGCTCCCCTAGGCTACTGTCAGTAAAAGGGTCTCCTAAAGTAGATGAAAAAGTCCTCCCCTATTCTAACATAACAGTCAGGGAAGAGTCTTTAAAATTTAATCCTTATGATTCTAGCAGGAGAGAACAGATGGCAGATATGGCCAAAATAAAACTATCTGTCTTGAATTCTGAAGATGAACTAAATCGTTGGGACTCTCAGATGAAACAGGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATACCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAAT
Task1_train_334
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?
Pathogenic; Bartter disease type 4B
AGCCAGGTCCTCTTCCCTACCCGCGGGGGACCACTCAGGACATCATTCCTGCCTGGCTCCCACCCCACCTCTCTGCCCAGGAACCACCCTCCTGTCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCAGGCATCTGCCCTCTGCCTTTCAGGAGATACAGCCCAAGGCCTGGTCACTGTGCCTATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGGCACAGCAAGGGGCTGGGGCAGCCTGCACTTGGCACCCTTCCTTGGAGCCCCATGTGCCTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGACTAAGTGCAGTGCCAGTGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTGCAGCCAGCGGGCCAGGGGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGCCCTGGGACACGCAGAAGTCTGCTAGACCCTGGTGCTCTCTAAGCTATGGATCCTGCAGGGATACAGGTGAAAGCTATAGCTGCCAGCCCCCTTCACACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCACGGGTGGGGAGAGTGGACAGGTCAAAGGCCTTCTGGCAGGGGCAGCAGTCCTGGCATCCACTGTGCCACCACTGTCACCTGCCACAAATCCTGCCCAGCCCCCAGTGTGAGGCAAGCCAGCAGAGGGTAGCTCCAGGCTCACTCAGTGGTGGCCTGAGGTTCTGTTCAGGGCTCCTCCATCCTGACACAGCCATCTGCCAGTCCCAGTGCGAGGAACGTGGACAACTTGCATTCCTCTCTGACTCAGGCGGGGCCCCCTCAGGACTACCCCAGACTCAACTACCAGGGTCCTCCCTGCCTGGAGCCAAGCAGACCTCCAGGGAAGGGGCTGTCTGTGCCCCTTGCCCCAACATAAGCTGGGACTCCGATACCCTGCCCCAGGTGGCCTGGAGTGGCTAAAGCAGAAGGTGTTCCGCCTGGGAGAAGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTATGCCATGAACTTTGCCATCGGGTGTGTGGTCCGAGGTAACTCTTCCCTGGCAGGTGCTGCTCTGGGCCAAGGGATTCTAGGCACGCTCTGGGGATACCAGATGGGCCACCAAGTGCAGCGGTGCAGGGACGGACCTGGGTGCGGGGAGGGCTCTGGCTCTACTCCTGATTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCTCCTCAGCCGCACAAGGAAGAGAGACCTGAATATTCCCAAGAGCCCTTCCTCCTCTGAGCTCTCTGGCTCCTCTTCCAGCCACCCCGTTCCTTCTCCTTCCCTCCTCCGTGCCTTGGGGCAGGAGTGGGGACACTTGCCTAGATCACCAAACTTGGAGTCTTCCCCCTGCTCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAATGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCAATCACTAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTTTTCTTGGGGGTCTGCACCTCACTCTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGTGTCTGGCCCTGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACGCGGCTGTCCCCAGCACACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTTTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCCTCAGGCTTCTCCCAGAGCATCACGCCCTCCTCTGGAGGTGAGTCCACGGTCGCCATGCCAGTCCCCAGTGCCAAAACCTTCTCAGATCCCAGGGGGCTTCTGATGGGGGGAATCGGGAAGCTGCAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTGGCTTGCCTGAAGGCACACAGCAAGAAGGCCAGATCTTGACTCTTGGGTCACTGCTGGCCCTACTCGCTTTCCAAGGGCTCCTTGGAAGGAGATTGCCCTGTGGGGCCTGTGCTGGTGCCAGGAAGGGGCCCATGGAGGAGGTGCCGCTCCCTCAGGCCACTCAGCCCTTCCTCCAGCTCCAGGCCAGCAGAGGGGAGCTCCAGGCTCACTCAGTGGTGGCCTGAGGTTCTGTTCAGAGCTCCCCCATCCTGACACAGCCATCTGCCAGTCCCAGTGGGAGGAACGTGGACAACTCGCATTCCTCTCTGACTCTAGCATCCAAATCTGCAAAATGAGTTTATGCATCCTAACCTCTGAGGGTTCTGCGTGATCATAATAGGACTAGGTGCAGTGACTCAGTCTATAATCCCAGCACTTTGGGAGGTGGGTGGATCACTTGATCCCAGGTGTTCAAGAGCAGCTTGGACAACATGGTGAAACCCCATCTCTACAAAAAATAAAAAACAACCACCACAACAAAAAGTTAGCCAGGTGTGGTGGTGCCTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATCACTTTTGAGCCTGAGGAAGTCGGGGTTATAATGAGCCGAGATCGAACCACTGCATTCCAGCCTGGACAATAGGGTGATACCCTGTCTCAAAGGAAAAAAAAAAATCATAATGTGAAAACACCGTGCGGGTAGAGTTATGAGAGTTTTTTTTGTTTGTTTGTTCGTTTGTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGGTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCACCCGCCACCATGCCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCGCGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCAGAGAGTTTTAATCTAGAGATTGTCCCCTGCTTGTTCCTGTCCTGTCTGGCTAAGGTTCTGGAATCCCGGAGCTGAAGACCATGTTGGCGGGTGTGATCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAGGTGGTGGGCCTCTCCTGCACCCTGGCCACCGGCAGCACCCTGTTCCTGGGCAAAGTGGTATGGTCAGGTGTGAGGGCACCCCAGCCACCCCGCCCACCCTACCCTGCCCCAGCTCTCCCCCATACCCCACCAAAGCTGGGTCAGAGCAGACTCAGGCCAGTGCCTGCCTTCAGGGAGCTCAGTCTTAGGGGAAGAGCCAGGCCAGGTCCCCAGTGTGACAAAAGCTACCTGAGGACAGCCCTGGGGGTTGGGGAGATGGAGGAGGGGGTGTGGTGGGGAAGCCGTGCTGCCTCGGGGTGAGACTGTCTCTGCTGCCCTCACCTGGGCCCACCCTTCCCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTAATGATCGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCCCTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
AGCCAGGTCCTCTTCCCTACCCGCGGGGGACCACTCAGGACATCATTCCTGCCTGGCTCCCACCCCACCTCTCTGCCCAGGAACCACCCTCCTGTCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCAGGCATCTGCCCTCTGCCTTTCAGGAGATACAGCCCAAGGCCTGGTCACTGTGCCTATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGGCACAGCAAGGGGCTGGGGCAGCCTGCACTTGGCACCCTTCCTTGGAGCCCCATGTGCCTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGACTAAGTGCAGTGCCAGTGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTGCAGCCAGCGGGCCAGGGGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGCCCTGGGACACGCAGAAGTCTGCTAGACCCTGGTGCTCTCTAAGCTATGGATCCTGCAGGGATACAGGTGAAAGCTATAGCTGCCAGCCCCCTTCACACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCACGGGTGGGGAGAGTGGACAGGTCAAAGGCCTTCTGGCAGGGGCAGCAGTCCTGGCATCCACTGTGCCACCACTGTCACCTGCCACAAATCCTGCCCAGCCCCCAGTGTGAGGCAAGCCAGCAGAGGGTAGCTCCAGGCTCACTCAGTGGTGGCCTGAGGTTCTGTTCAGGGCTCCTCCATCCTGACACAGCCATCTGCCAGTCCCAGTGCGAGGAACGTGGACAACTTGCATTCCTCTCTGACTCAGGCGGGGCCCCCTCAGGACTACCCCAGACTCAACTACCAGGGTCCTCCCTGCCTGGAGCCAAGCAGACCTCCAGGGAAGGGGCTGTCTGTGCCCCTTGCCCCAACATAAGCTGGGACTCCGATACCCTGCCCCAGGTGGCCTGGAGTGGCTAAAGCAGAAGGTGTTCCGCCTGGGAGAAGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTATGCCATGAACTTTGCCATCGGGTGTGTGGTCCGAGGTAACTCTTCCCTGGCAGGTGCTGCTCTGGGCCAAGGGATTCTAGGCACGCTCTGGGGATACCAGATGGGCCACCAAGTGCAGCGGTGCAGGGACGGACCTGGGTGCGGGGAGGGCTCTGGCTCTACTCCTGATTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCTCCTCAGCCGCACAAGGAAGAGAGACCTGAATATTCCCAAGAGCCCTTCCTCCTCTGAGCTCTCTGGCTCCTCTTCCAGCCACCCCGTTCCTTCTCCTTCCCTCCTCCGTGCCTTGGGGCAGGAGTGGGGACACTTGCCTAGATCACCAAACTTGGAGTCTTCCCCCTGCTCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAATGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCAATCACTAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTTTTCTTGGGGGTCTGCACCTCACTCTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGTGTCTGGCCCTGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACGCGGCTGTCCCCAGCACACCAGTGCCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTTTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCCTCAGGCTTCTCCCAGAGCATCACGCCCTCCTCTGGAGGTGAGTCCACGGTCGCCATGCCAGTCCCCAGTGCCAAAACCTTCTCAGATCCCAGGGGGCTTCTGATGGGGGGAATCGGGAAGCTGCAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTGGCTTGCCTGAAGGCACACAGCAAGAAGGCCAGATCTTGACTCTTGGGTCACTGCTGGCCCTACTCGCTTTCCAAGGGCTCCTTGGAAGGAGATTGCCCTGTGGGGCCTGTGCTGGTGCCAGGAAGGGGCCCATGGAGGAGGTGCCGCTCCCTCAGGCCACTCAGCCCTTCCTCCAGCTCCAGGCCAGCAGAGGGGAGCTCCAGGCTCACTCAGTGGTGGCCTGAGGTTCTGTTCAGAGCTCCCCCATCCTGACACAGCCATCTGCCAGTCCCAGTGGGAGGAACGTGGACAACTCGCATTCCTCTCTGACTCTAGCATCCAAATCTGCAAAATGAGTTTATGCATCCTAACCTCTGAGGGTTCTGCGTGATCATAATAGGACTAGGTGCAGTGACTCAGTCTATAATCCCAGCACTTTGGGAGGTGGGTGGATCACTTGATCCCAGGTGTTCAAGAGCAGCTTGGACAACATGGTGAAACCCCATCTCTACAAAAAATAAAAAACAACCACCACAACAAAAAGTTAGCCAGGTGTGGTGGTGCCTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATCACTTTTGAGCCTGAGGAAGTCGGGGTTATAATGAGCCGAGATCGAACCACTGCATTCCAGCCTGGACAATAGGGTGATACCCTGTCTCAAAGGAAAAAAAAAAATCATAATGTGAAAACACCGTGCGGGTAGAGTTATGAGAGTTTTTTTTGTTTGTTTGTTCGTTTGTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGGTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCACCCGCCACCATGCCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCGCGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCAGAGAGTTTTAATCTAGAGATTGTCCCCTGCTTGTTCCTGTCCTGTCTGGCTAAGGTTCTGGAATCCCGGAGCTGAAGACCATGTTGGCGGGTGTGATCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAGGTGGTGGGCCTCTCCTGCACCCTGGCCACCGGCAGCACCCTGTTCCTGGGCAAAGTGGTATGGTCAGGTGTGAGGGCACCCCAGCCACCCCGCCCACCCTACCCTGCCCCAGCTCTCCCCCATACCCCACCAAAGCTGGGTCAGAGCAGACTCAGGCCAGTGCCTGCCTTCAGGGAGCTCAGTCTTAGGGGAAGAGCCAGGCCAGGTCCCCAGTGTGACAAAAGCTACCTGAGGACAGCCCTGGGGGTTGGGGAGATGGAGGAGGGGGTGTGGTGGGGAAGCCGTGCTGCCTCGGGGTGAGACTGTCTCTGCTGCCCTCACCTGGGCCCACCCTTCCCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTAATGATCGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCCCTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
Task1_train_335
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?
Pathogenic; Bartter disease type 3
GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCTGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
Task1_train_336
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?
Pathogenic; Bartter disease type 4B
GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCTGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
Task1_train_337
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.
Pathogenic; Bartter disease type 3
GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCTGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCT
Task1_train_338
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.
Pathogenic; not provided
TCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTC
TCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCTGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTC
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
CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGT
CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCATGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGT
Task1_train_340
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.
Pathogenic; Bartter disease type 4B
CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGT
CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCATGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGT
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?
Pathogenic; Bartter disease type 3
AGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAG
AGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGATTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAG
Task1_train_342
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?
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.
Pathogenic; Bartter disease type 3
TGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGT
TGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCCATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGT
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?
Pathogenic; Bartter disease type 3
GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCAGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
Task1_train_346
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?
Pathogenic; Bartter disease type 3
GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCAGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
Task1_train_347
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.
Pathogenic; Bartter disease type 4B
GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCAGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
Task1_train_348
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.
Pathogenic; Bartter syndrome
GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCACCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
Task1_train_349
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?
Pathogenic; Bartter disease type 3
GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCACCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
Task1_train_350
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?
Pathogenic; Bartter disease type 4B
GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCACCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAG
Task1_train_351
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?
Pathogenic; Cataract 6 multiple types
CATCTCTGCTCCCTGGTTACGTTCCTGGTGACCTGTGTTTGACACCTTCCTAACCCCCACTATGAACGACCTCTGACATGCAGGGCTGCAACCCGGTAGAGTGGAGAAGGCTCAGGTTTGAAATTAGAACTCTGGTGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCAGAGGTGGGCAGATCACAAGGTCAAGTGATCAACACCATCTTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGTGCGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAGAAGAAAAAAAAAAGAAATTAGAACTCTGGCTTTTCTTGAGACTGCTGTGTGACTTTGGGCAAGTCGCTGCATGTCTCTGAGCCTCCATCTCCTCATCTATGAGAAAAGCATCCCACTGAGATTTCTGACCTTGCTTTCAATTCTGGCCTCTGCCCCTAACTTGCTGTGTGGCCTTGAACAAACCCAGTTGCTGGGCTCCAGCTTGGTTTTCCTTTTCTGTAAAATGGGGCCGCCCACAAAACTCATAACAAAGTGTTGAGGTTCCGACAAGCCGAAACCTGTGAAAAGCTTGTGTAAACCTCAGAGCTGTACATGGATGGTTGAAGGATCTATTTCGACAGCTCCGGGGAGCCGTGGGAGGGAAGCTGACGGCGGCTCTTGCTGTTCTCCTACCTCCCAGCCCTCCCGAAGACTCTGAGCAGCCTGGAGATCAAAGGTGATTGGGGCCTGCTGGCATGGAGGCCGGGCTCGGCAGAACCTGCTTCCCGGCCCCCTGCCCACCTCCCACCCACCCCTGCTCCCAGGGTTAAGTGACGTGTCTGCCTTGTGCACGAATCTCTGTTTAAACACTAGGGGTTTGGGGGGAACCCTCAGCCCCTCAACTCCCACCCAGGAAGCTCTGGGACCCCACTGCTTTTCCCAAGACTGAAAGCCAAGATCGGTTTGAATCATCTGCAACTTTATTCCAGAGCAGAAATAAGTCATTTTCTAACAATAAATATAAAAAAAATAATAAATTAAGATTCGAAAAAAATGTCCAACAAAACAAAATCTTTAACACTGACAGAATAGAAACTTATCCAAAAGGATGAGAGATGGGGCCGACTGGGGCATGGGCAGGACACTCCTGCAGCACCGGTCCCTGAGTCCCCAGCTCACGAATGTTTGACACCCTCTGTCCCCAGCCCTGGCGGGGCCCCCTGCCACACACACACATTCTCTCCACAAAGTACAAAATATATATTTAAAAACCTCAACACAACCAAGCATCTTGCAAAGGCCCAGGAAAGCAAGGGTTTGGCCAGTCAGGGATGAGGATGGGGCCCGAGGGTCTAAAGAAGGCACTAGAGGGACAGGGACCGCTTTGGGTCTCACCCAGTCAAGTTCACAGTCTGCCCTCTTAGTGTGAGGAAATGGGGCTTGAGGTACCCTGTTTACTTGGCGCTGGGCCAAGCCCTCCATCTCCTGAGATGGCCTCATGTGGGAGAAGGCGGAGGGAAGGTCGGCTTGGGAATATCCCATATGTCTGTCCGAAGGCTGTGGCGGGGCTCCTGCTCCAGGGATGCTGGGACGTGGCGGTGCCTGCTAAGTGCTCAGCTGTGTGCGTCTCGCAGGGAAAGAGGGCCCAGCCCAGCATCCCTGGTCATCTCCTCAGTTCAGGCCAGGGTGTCATCCGAGACCCCTCAGCGGAAGTTGCAGGGGGAGGAAAGAACTAGAAATAAATAAAGTCCCCAGTGGCCCAGCATGGCACAGCAGGGAGGCCACTCTGTTTCTTCAAGTATTCTTGGCCGATGGGGCTCCAGGCCCTGTCGAGGCTCAGATGGGGATCCCCACAGTGTTCACCTGGTCCTTGAGTCCCAGCAGGCTGTAGGCGATGCGCTTCTGGTGGCCGGGCAGCCGCACCCCAATCCTCTTGATGTCGCTGTGGGCCGGGAGGGAGAGAGGGAGAGTTAGGGGCTGGAGCAGGGGAGGGGGCCGGGCTGGGTGGGGACAGGACTCGGTGGGCGGCTGGGGAGGGGAGTGGAGGGAGGCAGAGGAGGAGGGTGGAGAGGGTGCCTTGGGGACCTGTAGGGCAAGAGAGCTCTGGTTAGGTAGGCCTGGGAGAAGGAGCCACAGCCTAGAAGCTTGCCAAGGTGGCCCACCATCAACAAAGTTAGGAAAACGACAGAAGCCTCAACTCTGTACGATGCTTTAAAAAAATAAAAATAAATCAAATCTTCTGAATTATCTGTGAGGCAGGTGCTCTTTTTCATCCCCATTTTGCAGATTAGAGAACTGAGGTCAGAGAGGTAAAGTGACTTGCCTGAAGTCACACAGCTAGGAGGTGGAAGAGCTGGGAATCAAACCAGCTATGAACAAATGCCTTCCCTCCCCTCACCCCTAGTCTGTTCCCAGTGCCCCCAGCTCAGGCCTCCTTCCCAGGAACTCTCTAGGGATGTCGCTCAAAGCCTCTCTGCCCAAGGTCTCTTCCCACCTGCTGCCTCATTTCTCCCTCACTCCTTCCAAGTTCCCACTGCTGATCATGAAGGAAGGACTTGGGAAATACTTGAAGGGTTAAACTTTGCGAGTCTTCATGGGTGAGGCTTGCGGGTCACCAGATCCAGTGACTAGGAAGATGTCTTCCCTTGGGGAAACCTCAGTTTCCTCCCGTGTAAAATGGGAGCTACTGTCCATCTGGAGGGCGAGAGACCTCAAAACCAGCAGCCGAGGGGGAAGGCAGCATCAGTACCAGATGGACAGATGTGCCCAGGAGCCCACAGCCCTGCTTTCCCACCCCCACAGGGTACACGCTCTCCTGGGGCCCCCTTCCATGCCCCTCCGTCCCCTCATGAAATCACTTATGCTCCCAGGAACCTGTGAGGAGGGCATTTATTACTCACTTTGGGAGTTTTCTCCTCCACCGTCCTCACCCACTAGCCCAAACCCATGAAAACACCCAAGTTTTTATGGGCCGACTTTTGGCTGTAAAGGGAGCTAATTATATGATGCAAGATCCTAGTTGCAGTTCTGCAGACATGACTTTCCCACAGGCTCCGGGAGCCCCGGCACAGGCGCAGAGCAGGGAAGGGCAGACCCAGGTGAGTTGGGGGGACTCCAGGACCTCCCGCAGAGGCTGGTGCTCCCACAGCAGCAGGAAGGCCGAGACATTTGGGACATTTGGGAGAACTTCCTACGCTACCTGCACAGGACGTTTCTAACCTATACAGTTGGAGGTGCTGAAAAAGCAGCAGTTTCCCACACACTTGAAGGTCTCAAATTGTGGTCCCTGGAAAAGCGCTCAGACCACGGTGAAGGAGACAGGACCCCCGGCCTGACCCCAGATTCACTCGATTTGCAGTTCCGCAGGTGGGGCAAGGAGTCTGCATTTGGTTGAATCCCAGAAGAAACCTGACATCCGGTTTAAAAACCAGTGGGTTGTAAGCTCCAGGAGGACAAGTGCTGAGACCTTGTCATCTGGGCCCATCACCCCCACAGCACCTGCTCCCGCCCCCACCCCTGCCCAGGGTCCAGGATAGGCCTGGCACATAGTAGGTCCCTAGGAAGTGTCTGCTGCATGAATGCATGAGCGAATGAATGCTTTAGCGGAGGTTGGGCCGTTGCTGGGCCACCTCTGGTCCCTCTTGCAAATGGTAGTGGTTAATCTCACAGGATGGGAGCACAGTTTGCTTTGGAGGCCCTGCGTAGAAAACTCCAAGGCCATATACTCGGTGAGCTCCTACTGTGTTCTGGCCCTGGGTGCAGGGAGACGGGAGTAAGAAATGGCTCCTGGAGCCTCACGTGTCAGATCATTCATTCATTCAGCAAGCATTCCTTCAGTGCCAAGCCTATGCCAAGGGCACTGGAGACCCTAAGATCTACAGCCTGTGCCCTCGACCCCCACACAGGATGCAAATGCTGTAGTCCCAGCTCTAGACAGAGCCTGGGGTTGGGCTATTTTTCTGGGGTGCAACAT
CATCTCTGCTCCCTGGTTACGTTCCTGGTGACCTGTGTTTGACACCTTCCTAACCCCCACTATGAACGACCTCTGACATGCAGGGCTGCAACCCGGTAGAGTGGAGAAGGCTCAGGTTTGAAATTAGAACTCTGGTGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCAGAGGTGGGCAGATCACAAGGTCAAGTGATCAACACCATCTTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGTGCGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAGAAGAAAAAAAAAAGAAATTAGAACTCTGGCTTTTCTTGAGACTGCTGTGTGACTTTGGGCAAGTCGCTGCATGTCTCTGAGCCTCCATCTCCTCATCTATGAGAAAAGCATCCCACTGAGATTTCTGACCTTGCTTTCAATTCTGGCCTCTGCCCCTAACTTGCTGTGTGGCCTTGAACAAACCCAGTTGCTGGGCTCCAGCTTGGTTTTCCTTTTCTGTAAAATGGGGCCGCCCACAAAACTCATAACAAAGTGTTGAGGTTCCGACAAGCCGAAACCTGTGAAAAGCTTGTGTAAACCTCAGAGCTGTACATGGATGGTTGAAGGATCTATTTCGACAGCTCCGGGGAGCCGTGGGAGGGAAGCTGACGGCGGCTCTTGCTGTTCTCCTACCTCCCAGCCCTCCCGAAGACTCTGAGCAGCCTGGAGATCAAAGGTGATTGGGGCCTGCTGGCATGGAGGCCGGGCTCGGCAGAACCTGCTTCCCGGCCCCCTGCCCACCTCCCACCCACCCCTGCTCCCAGGGTTAAGTGACGTGTCTGCCTTGTGCACGAATCTCTGTTTAAACACTAGGGGTTTGGGGGGAACCCTCAGCCCCTCAACTCCCACCCAGGAAGCTCTGGGACCCCACTGCTTTTCCCAAGACTGAAAGCCAAGATCGGTTTGAATCATCTGCAACTTTATTCCAGAGCAGAAATAAGTCATTTTCTAACAATAAATATAAAAAAAATAATAAATTAAGATTCGAAAAAAATGTCCAACAAAACAAAATCTTTAACACTGACAGAATAGAAACTTATCCAAAAGGATGAGAGATGGGGCCGACTGGGGCATGGGCAGGACACTCCTGCAGCACCGGTCCCTGAGTCCCCAGCTCACGAATGTTTGACACCCTCTGTCCCCAGCCCTGGCGGGGCCCCCTGCCACACACACACATTCTCTCCACAAAGTACAAAATATATATTTAAAAACCTCAACACAACCAAGCATCTTGCAAAGGCCCAGGAAAGCAAGGGTTTGGCCAGTCAGGGATGAGGATGGGGCCCGAGGGTCTAAAGAAGGCACTAGAGGGACAGGGACCGCTTTGGGTCTCACCCAGTCAAGTTCACAGTCTGCCCTCTTAGTGTGAGGAAATGGGGCTTGAGGTACCCTGTTTACTTGGCGCTGGGCCAAGCCCTCCATCTCCTGAGATGGCCTCATGTGGGAGAAGGCGGAGGGAAGGTCGGCTTGGGAATATCCCATATGTCTGTCCGAAGGCTGTGGCGGGGCTCCTGCTCCAGGGATGCTGGGACGTGGCGGTGCCTGCTAAGTGCTCAGCTGTGTGCGTCTCGCAGGGAAAGAGGGCCCAGCCCAGCATCCCTGGTCATCTCCTCAGTTCAGGCCAGGGTGTCATCCGAGACCCCTCAGCGGAAGTTGCAGGGGGAGGAAAGAACTAGAAATAAATAAAGTCCCCAGTGGCCCAGCATGGCACAGCAGGGAGGCCACTCTGTTTCTTCAAGTATTCTTGGCCGATGGGGCTCCAGGCCCTGTCGAGGCTCAGATGGGGATCCCCACAGTGTTCACCTGGTCCTTGAGTCCCAGCAGGCTGTAGGCGATGCGCTTCTGGTGGCCGGGCAGCCGCACCCAAATCCTCTTGATGTCGCTGTGGGCCGGGAGGGAGAGAGGGAGAGTTAGGGGCTGGAGCAGGGGAGGGGGCCGGGCTGGGTGGGGACAGGACTCGGTGGGCGGCTGGGGAGGGGAGTGGAGGGAGGCAGAGGAGGAGGGTGGAGAGGGTGCCTTGGGGACCTGTAGGGCAAGAGAGCTCTGGTTAGGTAGGCCTGGGAGAAGGAGCCACAGCCTAGAAGCTTGCCAAGGTGGCCCACCATCAACAAAGTTAGGAAAACGACAGAAGCCTCAACTCTGTACGATGCTTTAAAAAAATAAAAATAAATCAAATCTTCTGAATTATCTGTGAGGCAGGTGCTCTTTTTCATCCCCATTTTGCAGATTAGAGAACTGAGGTCAGAGAGGTAAAGTGACTTGCCTGAAGTCACACAGCTAGGAGGTGGAAGAGCTGGGAATCAAACCAGCTATGAACAAATGCCTTCCCTCCCCTCACCCCTAGTCTGTTCCCAGTGCCCCCAGCTCAGGCCTCCTTCCCAGGAACTCTCTAGGGATGTCGCTCAAAGCCTCTCTGCCCAAGGTCTCTTCCCACCTGCTGCCTCATTTCTCCCTCACTCCTTCCAAGTTCCCACTGCTGATCATGAAGGAAGGACTTGGGAAATACTTGAAGGGTTAAACTTTGCGAGTCTTCATGGGTGAGGCTTGCGGGTCACCAGATCCAGTGACTAGGAAGATGTCTTCCCTTGGGGAAACCTCAGTTTCCTCCCGTGTAAAATGGGAGCTACTGTCCATCTGGAGGGCGAGAGACCTCAAAACCAGCAGCCGAGGGGGAAGGCAGCATCAGTACCAGATGGACAGATGTGCCCAGGAGCCCACAGCCCTGCTTTCCCACCCCCACAGGGTACACGCTCTCCTGGGGCCCCCTTCCATGCCCCTCCGTCCCCTCATGAAATCACTTATGCTCCCAGGAACCTGTGAGGAGGGCATTTATTACTCACTTTGGGAGTTTTCTCCTCCACCGTCCTCACCCACTAGCCCAAACCCATGAAAACACCCAAGTTTTTATGGGCCGACTTTTGGCTGTAAAGGGAGCTAATTATATGATGCAAGATCCTAGTTGCAGTTCTGCAGACATGACTTTCCCACAGGCTCCGGGAGCCCCGGCACAGGCGCAGAGCAGGGAAGGGCAGACCCAGGTGAGTTGGGGGGACTCCAGGACCTCCCGCAGAGGCTGGTGCTCCCACAGCAGCAGGAAGGCCGAGACATTTGGGACATTTGGGAGAACTTCCTACGCTACCTGCACAGGACGTTTCTAACCTATACAGTTGGAGGTGCTGAAAAAGCAGCAGTTTCCCACACACTTGAAGGTCTCAAATTGTGGTCCCTGGAAAAGCGCTCAGACCACGGTGAAGGAGACAGGACCCCCGGCCTGACCCCAGATTCACTCGATTTGCAGTTCCGCAGGTGGGGCAAGGAGTCTGCATTTGGTTGAATCCCAGAAGAAACCTGACATCCGGTTTAAAAACCAGTGGGTTGTAAGCTCCAGGAGGACAAGTGCTGAGACCTTGTCATCTGGGCCCATCACCCCCACAGCACCTGCTCCCGCCCCCACCCCTGCCCAGGGTCCAGGATAGGCCTGGCACATAGTAGGTCCCTAGGAAGTGTCTGCTGCATGAATGCATGAGCGAATGAATGCTTTAGCGGAGGTTGGGCCGTTGCTGGGCCACCTCTGGTCCCTCTTGCAAATGGTAGTGGTTAATCTCACAGGATGGGAGCACAGTTTGCTTTGGAGGCCCTGCGTAGAAAACTCCAAGGCCATATACTCGGTGAGCTCCTACTGTGTTCTGGCCCTGGGTGCAGGGAGACGGGAGTAAGAAATGGCTCCTGGAGCCTCACGTGTCAGATCATTCATTCATTCAGCAAGCATTCCTTCAGTGCCAAGCCTATGCCAAGGGCACTGGAGACCCTAAGATCTACAGCCTGTGCCCTCGACCCCCACACAGGATGCAAATGCTGTAGTCCCAGCTCTAGACAGAGCCTGGGGTTGGGCTATTTTTCTGGGGTGCAACAT
Task1_train_352
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.
Pathogenic; Cataract 6 multiple types
CTAGTCTAGCTAGAAACCCAACTGACTCCAAAATAGCACAAATGGAGAAGAGACAGTGGCTGTGGGACCCCAGGGGACCAGGCAGCTGGTCCCCTGGGAGGGAGTCAAGAAGGCAGGAGGCTGAGAAGGGGAGGAGGTGGGACACTGAAGCCTAAATCCTGATCCCATTGGGAAAGGCACGCATTCCCCTGCTACCAGCTCCAAGTCTCCCGTTGGGACCCATGGCGTGTGTAGACCCAGGCTTCAGGTTTTAAAAAGTCCTTTGAGATCCCCATTTATTTGGAAAGAGGCAGAGGGGAAGGAGGAGGCATGCAGGCCCCAGCTCTGAGCACCAGTGGCTGGTGGGAGGAGCGGGTGGTGGGTGGTGGGGGGCGCCGAATGACTTCCTGCCTTTATCCAGGCCCTTTCACAACAACGCGCACTGCAGCGCACACACACACAGCCTCCATCCATCCAAGACTGCCCCGTCCCTGCTCGTGGGAAAGGAATTGGCGAGGAGCACCCTGGGCTATTTAGGGAAGCTTCTAAGAACATGTGTTTCCCATAAGCACTTCTCCGTGCCCTCAGCTCTGGTCCCCAGAAGAGAGGCTGTGTTGTCCTTGGTGGGAGCCCCTGGAGGAGCAAAGGGTCTGGTGGATGTTCCCAGGAAAAAGGAGAAAAGGAGGGGGCATTTGCACAGTGCTAGGGGAGGAAAGCAAGGGAGTGGAGGAAAAGAGGAGAGCAATGAGGATTTAGCACCCACTGTATACCAGTCGTGTCATCTGCGCTGCACCCATGCAATCCCATCAAACTTGATCAAGGTCACCCGCTAGGAAGTGGCAGATGCGGGACTTGAACCCAGGTATGTGTGCAGAGCCCAAGCCTGTGGCCCTGCTGGGCTGGCGGGCAGCAAAAGACATCCTGTGATCCATCTCCCCTCCCTACGTGTCCCCGCCTCCCCTCTGGTCGGCTCTGTTCCTGCCTGCTTCCCATCACCGACTGTCCCCTGAGGGAGGCTATGGCCTTGGCCAGCAGGTTGGGAGCCCAGCTGAGCAATTTCCAAAGGCCCTAGAGAATGTTCATGAACAGGCTCAAATCCCAGAACTTCTGTGACCTAGAACCATGGGAGGCCCAGGTCATCCCCTCCATACGGTTCCCAAAACCTCCCAGCCTCCCGGTCTGTTCCCGCCATGATCTTTGACCATGCACAAGCTGGGTTGTTGAAACTGGCCACTATTTTTAGAGGCACAAAAGGCTAAGAGGATAGGGTCTCCCCCTTCCTGGGACAGGAGGAGGTGTCTGTGCCAAGGCCATGCCGGGAAAAGTCTCAATGCTGGAGTTGGGAAGGGGAGAAGAGCTGCCAAGGGGCAGCTTGACAAAGGGGCAAACCCAGGGCCAGCAGAGAGTAAGTGGCACTTCTCACCAGGTGGGACTGCAGGCTGAGAGCCAACCAAGTGGAGAGAGGTGCCCGGGGTAGGCCAGGGGTTCTCTCTCCTGGGCAGCAGTCAGGGCATCTTGGAGAAGACTGCCCCAAACTGGCTGTGTGACCTCAGGCAAGCCGGTAACATCTCAGCCTGTTTCTCTACCAATGACCTCTCCGATCCCTGCGCTCTGGGATCCCGACTGACTGGGCCTGGAATCCTGCTCTCCCCCTCATGGCTGTGGGACCCTGGGCAGGTCACTGCACTTCTCTGCATCTGTTTCTCACCTGCACCTGTTTCTCACCTGTTAACAGGACTCACCCCGCTGGGTTCTCATTCAAAGTGCTCAAGCAGAGACGGCACATAGCCCTCAGTAAACAGTAGCTACTGTTATGATTACGGTTACTATTATTTCCCCACTCTGGTAAAGGATGTAGGAAGAGGAGAGAGCTGAGAGTGGGCACCCAGAGCTGCCAGCTGCTGGCGGAGTTCTGCCCTTCTCTTCCAAGGAGCCTCTTCCCAGAAGAGAAAGAACAAAGAGAGGAGCATTGAGGGGCAGGGAAGAGGGCTGGGGGGGGCATGGAGGCAGCCTCTGGAGTGGGAGGCGGGAGGCGAGGGGGGACGGAAAGGGGCCTGACTTACTCGTTGGTCATCTGCACCACCTTCTCGATGGCAGTGTAGCCGGCCGCCATGAAGTGCTCCGTATACTGCTGCATCTTGATGGACTCCAGCCACTCGGACACCGTGCGGAAGGGCACCCCCTCCGAGCCGCTCGTGCTGGGGAGCCGGATAGACACGCTGCAACAGGAAGCACTGCAGGTGAGGGGCTGCAGCACCCAGTCCACCCTGGGCCCTGCACCTGCTGCTCCCTAACCTGGATGATTGACTCGGCTGCCCCGTGCCTCCGTCTCCTTATCTGGGCAACAGGGAAGCCCAGTCAAGTAGGGTTCAATGAGACCTCCTGGCACGTTGGGAGCGCTCAGCATCTGTAACTACTGCTGCCCCTCCACTCCTACTAACAGGACCACCACCAATAACTACCACATCATAAAATGCTACGAGCAGAGATTCCAGATCCTGAGGTCACAATCCCAGCCTGACCACTTCCAGCCATGTAAGATATTCAATCGCCCTGTGTCTCAGTTTCTTCTTCTACAAAATGAGGATCACTGGAGGACTCATCTCGTAGGTTGTTTAAATGAATGAAAACATATTAAGTGCTCACGCAGTGCCCTGCACACAGACACATAAGCTGGTTGCTTCTATTAGGATTTCCTGGGCCATCGTGTCCAGTCTAAGTCAAGTCCACACATAACCTCTTAGCCCCCAGCACCCCCCCTACCAGCTTCACCTGGGTGGCCACTCTACCGAAGTGGTTCAAGAGTCTGCAGAAGGAAAATTGAGGTCATCATGGGCAGAGGGCATAGAACTCACCGGGGGTCAAAGTCAGCCAGGGTCTTGAGGGAGTCAGGGGCACGAATGAGCTTGTCCAGGATGCTGACGATGTCAGCGAACTTGGGGCGGCGGGCACGCTCCTGCTGCCAGCACTGCATCATGAGCTGGTAGATGGCGGAGGGGCAGTCCATGGGTGTGGGGAGCCGGAAGCCATCATTGATGGCTTTCATCACCTGGCGGGGCACGAAGGTCAGGGGCGCTGTTGCAGAAAGCCACTGAAACCCTCTGCAGCCTCCAGCCTATGGAGGTGGGCAGGGGAGGGGAGGGGAACAGGAACATCCCAGAAACAGACAGGAAGGGCCTTTCTTGAGCTGCCACCCAACCTTCAGAGCTGCCCAAAGGGCAAATGCCTAAGGGTCTGTGTCCAGAGTTCACTGGAAGGGACTTTTTTTTTTTTGACTGAGACAGGGTCTCAGTCTGTCACCCAGGCTAGAGTGCAGTGGCGCTATCACACCTCACGGCAGCCTCAACCTCCTGTGCTCAGGTGATCCTCCCACCTCCGCCTCCTGAGTAGCTGAGACTACAGGCACGTGCCAACACACTTGGCTAATTTTTTAATTTTTTGTAGAGATGGGGTTTCGTCATGTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCGATACTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGCGCCATTGCTCCCAGCTAGAAGGGACCCTGCTCCCTCACAGGGCACCAGGCAGCAGCCACACTGTGTACCCTCAGCCCAGCCTCCCTCCCATCTCTCTTCCCCTCCCTCTCATCTGGCTGCCTTACAGTGCCCTTGGTCTTGGCAGAGATGTGACCTCTTCTGAGAAGCCTCCCAGGCCACCAGGCTGAGAGAGGCACCAAGCACACAGACACACACACACATGCATGCATGCACATGTGCACACATACGGATGCACACACATGCATGGACACACGGATACACACGTACACCCCACTCCTTTTTTCATCTCTGCACTCTCTGAATCAGCTCCTGGAACCCAGCACAAGGCCTGGCACGCAGTAGATCCTCAAGAAATATTTACGGGGCTGGGTGCGGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCATGTGGATCACCTGAAGCGAGGAGCTAGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAG
CTAGTCTAGCTAGAAACCCAACTGACTCCAAAATAGCACAAATGGAGAAGAGACAGTGGCTGTGGGACCCCAGGGGACCAGGCAGCTGGTCCCCTGGGAGGGAGTCAAGAAGGCAGGAGGCTGAGAAGGGGAGGAGGTGGGACACTGAAGCCTAAATCCTGATCCCATTGGGAAAGGCACGCATTCCCCTGCTACCAGCTCCAAGTCTCCCGTTGGGACCCATGGCGTGTGTAGACCCAGGCTTCAGGTTTTAAAAAGTCCTTTGAGATCCCCATTTATTTGGAAAGAGGCAGAGGGGAAGGAGGAGGCATGCAGGCCCCAGCTCTGAGCACCAGTGGCTGGTGGGAGGAGCGGGTGGTGGGTGGTGGGGGGCGCCGAATGACTTCCTGCCTTTATCCAGGCCCTTTCACAACAACGCGCACTGCAGCGCACACACACACAGCCTCCATCCATCCAAGACTGCCCCGTCCCTGCTCGTGGGAAAGGAATTGGCGAGGAGCACCCTGGGCTATTTAGGGAAGCTTCTAAGAACATGTGTTTCCCATAAGCACTTCTCCGTGCCCTCAGCTCTGGTCCCCAGAAGAGAGGCTGTGTTGTCCTTGGTGGGAGCCCCTGGAGGAGCAAAGGGTCTGGTGGATGTTCCCAGGAAAAAGGAGAAAAGGAGGGGGCATTTGCACAGTGCTAGGGGAGGAAAGCAAGGGAGTGGAGGAAAAGAGGAGAGCAATGAGGATTTAGCACCCACTGTATACCAGTCGTGTCATCTGCGCTGCACCCATGCAATCCCATCAAACTTGATCAAGGTCACCCGCTAGGAAGTGGCAGATGCGGGACTTGAACCCAGGTATGTGTGCAGAGCCCAAGCCTGTGGCCCTGCTGGGCTGGCGGGCAGCAAAAGACATCCTGTGATCCATCTCCCCTCCCTACGTGTCCCCGCCTCCCCTCTGGTCGGCTCTGTTCCTGCCTGCTTCCCATCACCGACTGTCCCCTGAGGGAGGCTATGGCCTTGGCCAGCAGGTTGGGAGCCCAGCTGAGCAATTTCCAAAGGCCCTAGAGAATGTTCATGAACAGGCTCAAATCCCAGAACTTCTGTGACCTAGAACCATGGGAGGCCCAGGTCATCCCCTCCATACGGTTCCCAAAACCTCCCAGCCTCCCGGTCTGTTCCCGCCATGATCTTTGACCATGCACAAGCTGGGTTGTTGAAACTGGCCACTATTTTTAGAGGCACAAAAGGCTAAGAGGATAGGGTCTCCCCCTTCCTGGGACAGGAGGAGGTGTCTGTGCCAAGGCCATGCCGGGAAAAGTCTCAATGCTGGAGTTGGGAAGGGGAGAAGAGCTGCCAAGGGGCAGCTTGACAAAGGGGCAAACCCAGGGCCAGCAGAGAGTAAGTGGCACTTCTCACCAGGTGGGACTGCAGGCTGAGAGCCAACCAAGTGGAGAGAGGTGCCCGGGGTAGGCCAGGGGTTCTCTCTCCTGGGCAGCAGTCAGGGCATCTTGGAGAAGACTGCCCCAAACTGGCTGTGTGACCTCAGGCAAGCCGGTAACATCTCAGCCTGTTTCTCTACCAATGACCTCTCCGATCCCTGCGCTCTGGGATCCCGACTGACTGGGCCTGGAATCCTGCTCTCCCCCTCATGGCTGTGGGACCCTGGGCAGGTCACTGCACTTCTCTGCATCTGTTTCTCACCTGCACCTGTTTCTCACCTGTTAACAGGACTCACCCCGCTGGGTTCTCATTCAAAGTGCTCAAGCAGAGACGGCACATAGCCCTCAGTAAACAGTAGCTACTGTTATGATTACGGTTACTATTATTTCCCCACTCTGGTAAAGGATGTAGGAAGAGGAGAGAGCTGAGAGTGGGCACCCAGAGCTGCCAGCTGCTGGCGGAGTTCTGCCCTTCTCTTCCAAGGAGCCTCTTCCCAGAAGAGAAAGAACAAAGAGAGGAGCATTGAGGGGCAGGGAAGAGGGCTGGGGGGGGCATGGAGGCAGCCTCTGGAGTGGGAGGCGGGAGGCGAGGGGGGACGGAAAGGGGCCTGACTTACTCGTTGATCATCTGCACCACCTTCTCGATGGCAGTGTAGCCGGCCGCCATGAAGTGCTCCGTATACTGCTGCATCTTGATGGACTCCAGCCACTCGGACACCGTGCGGAAGGGCACCCCCTCCGAGCCGCTCGTGCTGGGGAGCCGGATAGACACGCTGCAACAGGAAGCACTGCAGGTGAGGGGCTGCAGCACCCAGTCCACCCTGGGCCCTGCACCTGCTGCTCCCTAACCTGGATGATTGACTCGGCTGCCCCGTGCCTCCGTCTCCTTATCTGGGCAACAGGGAAGCCCAGTCAAGTAGGGTTCAATGAGACCTCCTGGCACGTTGGGAGCGCTCAGCATCTGTAACTACTGCTGCCCCTCCACTCCTACTAACAGGACCACCACCAATAACTACCACATCATAAAATGCTACGAGCAGAGATTCCAGATCCTGAGGTCACAATCCCAGCCTGACCACTTCCAGCCATGTAAGATATTCAATCGCCCTGTGTCTCAGTTTCTTCTTCTACAAAATGAGGATCACTGGAGGACTCATCTCGTAGGTTGTTTAAATGAATGAAAACATATTAAGTGCTCACGCAGTGCCCTGCACACAGACACATAAGCTGGTTGCTTCTATTAGGATTTCCTGGGCCATCGTGTCCAGTCTAAGTCAAGTCCACACATAACCTCTTAGCCCCCAGCACCCCCCCTACCAGCTTCACCTGGGTGGCCACTCTACCGAAGTGGTTCAAGAGTCTGCAGAAGGAAAATTGAGGTCATCATGGGCAGAGGGCATAGAACTCACCGGGGGTCAAAGTCAGCCAGGGTCTTGAGGGAGTCAGGGGCACGAATGAGCTTGTCCAGGATGCTGACGATGTCAGCGAACTTGGGGCGGCGGGCACGCTCCTGCTGCCAGCACTGCATCATGAGCTGGTAGATGGCGGAGGGGCAGTCCATGGGTGTGGGGAGCCGGAAGCCATCATTGATGGCTTTCATCACCTGGCGGGGCACGAAGGTCAGGGGCGCTGTTGCAGAAAGCCACTGAAACCCTCTGCAGCCTCCAGCCTATGGAGGTGGGCAGGGGAGGGGAGGGGAACAGGAACATCCCAGAAACAGACAGGAAGGGCCTTTCTTGAGCTGCCACCCAACCTTCAGAGCTGCCCAAAGGGCAAATGCCTAAGGGTCTGTGTCCAGAGTTCACTGGAAGGGACTTTTTTTTTTTTGACTGAGACAGGGTCTCAGTCTGTCACCCAGGCTAGAGTGCAGTGGCGCTATCACACCTCACGGCAGCCTCAACCTCCTGTGCTCAGGTGATCCTCCCACCTCCGCCTCCTGAGTAGCTGAGACTACAGGCACGTGCCAACACACTTGGCTAATTTTTTAATTTTTTGTAGAGATGGGGTTTCGTCATGTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCGATACTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGCGCCATTGCTCCCAGCTAGAAGGGACCCTGCTCCCTCACAGGGCACCAGGCAGCAGCCACACTGTGTACCCTCAGCCCAGCCTCCCTCCCATCTCTCTTCCCCTCCCTCTCATCTGGCTGCCTTACAGTGCCCTTGGTCTTGGCAGAGATGTGACCTCTTCTGAGAAGCCTCCCAGGCCACCAGGCTGAGAGAGGCACCAAGCACACAGACACACACACACATGCATGCATGCACATGTGCACACATACGGATGCACACACATGCATGGACACACGGATACACACGTACACCCCACTCCTTTTTTCATCTCTGCACTCTCTGAATCAGCTCCTGGAACCCAGCACAAGGCCTGGCACGCAGTAGATCCTCAAGAAATATTTACGGGGCTGGGTGCGGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCATGTGGATCACCTGAAGCGAGGAGCTAGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAG
Task1_train_353
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.
Pathogenic; Kufor-Rakeb syndrome
TCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCAGGGCTCCTCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTAGCCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGCGCTGGGATTACTGGCATGAGCCACCGCGCCTGGCCTATTACTATTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCGCAGCCTCCCAGGCTCAAGCAACCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATGACCGGTGTGTCACCACACCTGGCTAATTTTTAAATTTTTAATAAGAGATGGGGTCTCACTTTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCACTCAAAGAGGTGGGATTACAGGAATGAGCCACCGCACCCAGCCTACAATTATTATTTTTAGCATGAAAGACCTGGGAGAGCCTGCCTGCTTTTGGTGAGGAGGGGTGACAGCTCTCTGGTGCCTGAGGAGGGAGACAGGGCCCTGGGGAAGGACAGATGAACAGACGAACGGACAAGCTCAGTCTCCGCAGGCCCTTGCCCACACCCTCTGCCGAGCACTCACTGAAGCTTCTGTAGCTCGCACACCAGCTCTGTCTTCTGCTCAGGGGCCATGCGGGCAAAGACAGTGCCCTGGACCAGGACCTGGGAGCACAGGGAGATGGGGGAGGGCTGAGGCACCCACCAGGGAGAGCGAGCCGTGAGGAAGGAGACAGAGCAGGGGAGGCGCAGGGCGGCCAGGGAGCTGGGGGCGGCCCTACCTTGGGCAGCAGCTTGGGGAAGTGCTTCACAATGATACCAAAGGTGGGCCCGCTGAGGGCCAGGTGCCTGGATCGGGGGTCTGGCTCCACGGTGTAGCTTGCAGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGA
TCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCAGGGCTCCTCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTAGCCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCTGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGCGCTGGGATTACTGGCATGAGCCACCGCGCCTGGCCTATTACTATTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCGCAGCCTCCCAGGCTCAAGCAACCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATGACCGGTGTGTCACCACACCTGGCTAATTTTTAAATTTTTAATAAGAGATGGGGTCTCACTTTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCACTCAAAGAGGTGGGATTACAGGAATGAGCCACCGCACCCAGCCTACAATTATTATTTTTAGCATGAAAGACCTGGGAGAGCCTGCCTGCTTTTGGTGAGGAGGGGTGACAGCTCTCTGGTGCCTGAGGAGGGAGACAGGGCCCTGGGGAAGGACAGATGAACAGACGAACGGACAAGCTCAGTCTCCGCAGGCCCTTGCCCACACCCTCTGCCGAGCACTCACTGAAGCTTCTGTAGCTCGCACACCAGCTCTGTCTTCTGCTCAGGGGCCATGCGGGCAAAGACAGTGCCCTGGACCAGGACCTGGGAGCACAGGGAGATGGGGGAGGGCTGAGGCACCCACCAGGGAGAGCGAGCCGTGAGGAAGGAGACAGAGCAGGGGAGGCGCAGGGCGGCCAGGGAGCTGGGGGCGGCCCTACCTTGGGCAGCAGCTTGGGGAAGTGCTTCACAATGATACCAAAGGTGGGCCCGCTGAGGGCCAGGTGCCTGGATCGGGGGTCTGGCTCCACGGTGTAGCTTGCAGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGA
Task1_train_354
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?
Pathogenic; Kufor-Rakeb syndrome
GCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGCGCTGGGATTACTGGCATGAGCCACCGCGCCTGGCCTATTACTATTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCGCAGCCTCCCAGGCTCAAGCAACCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATGACCGGTGTGTCACCACACCTGGCTAATTTTTAAATTTTTAATAAGAGATGGGGTCTCACTTTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCACTCAAAGAGGTGGGATTACAGGAATGAGCCACCGCACCCAGCCTACAATTATTATTTTTAGCATGAAAGACCTGGGAGAGCCTGCCTGCTTTTGGTGAGGAGGGGTGACAGCTCTCTGGTGCCTGAGGAGGGAGACAGGGCCCTGGGGAAGGACAGATGAACAGACGAACGGACAAGCTCAGTCTCCGCAGGCCCTTGCCCACACCCTCTGCCGAGCACTCACTGAAGCTTCTGTAGCTCGCACACCAGCTCTGTCTTCTGCTCAGGGGCCATGCGGGCAAAGACAGTGCCCTGGACCAGGACCTGGGAGCACAGGGAGATGGGGGAGGGCTGAGGCACCCACCAGGGAGAGCGAGCCGTGAGGAAGGAGACAGAGCAGGGGAGGCGCAGGGCGGCCAGGGAGCTGGGGGCGGCCCTACCTTGGGCAGCAGCTTGGGGAAGTGCTTCACAATGATACCAAAGGTGGGCCCGCTGAGGGCCAGGTGCCTGGATCGGGGGTCTGGCTCCACGGTGTAGCTTGCAGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGAGCTCCACATATACTCCTTTTTTTTCTTTTTTTAAGACAAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCTTCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGAGGGTGCGACCACACCAGGCTAATTTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGGCCTCAGGTGATCCCCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCACGAGCCATGTGCCCAGGCTACATATACTCCTTACTGCTGTGTGACTCTGCTGCCAAGTGCCCATGAATGTGTGTGCACATATGTGTGTGTGCAGGGGCGGGGAGGACAAGGACACAGACCTCTTAGCTCCTGCTGTCTCACCCTAGCTAGAATCTTTTTTTTTTTGAGACTGGGTCTCTCTCTGTTGCCCAGGCTGGAGTGAAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCCACCACCATACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCGTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACACTGTGCCCGGCCATTTTCGTATTCTTTGTAGAGACGGAGTTTTGCCATGTTGCCCAGGTTGGTCTTGAACTCCAGGGTTCAAGACATCCTTCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAGTACCGTGCCCGGCCAGAATCTTTCTCTTCCTGCTCCTTGAGCTTGTCACAGCCTCTGAGGCTGACATCATTATCCCCATTTCTCAGAGGTGCCACCTGGAACCCAGGCTGTCTGACAGCGCACATGGGTTCCTTGGAAGTCACTCCACTCCTCTGAGTCTCAGTTTCCTCATCTGTCAAACAGGGGTGACAATTACCACTTGCGGGGGGGATATTGTGAAGATTCACGAAATGTTTAAAAAGGACCTGGCCTGAAGCAAGGGCCCAAAAAGATGCCCCAAAAAGGAATCCCTGGTGCCCCTCTTCTCTGCCAGGAAGGGGCGGATTCTGCCCTGCTAGCCCGGGCCCCTACATGCCATTGTACCTGTCACCATGACGGCGCGGATGCGGGTCCTTCGCAGAGCCTGGATAACTGGC
GCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGCGCTGGGATTACTGGCATGAGCCACCGCGCCTGGCCTATTACTATTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCGCAGCCTCCCAGGCTCAAGCAACCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATGACCGGTGTGTCACCACACCTGGCTAATTTTTAAATTTTTAATAAGAGATGGGGTCTCACTTTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCACTCAAAGAGGTGGGATTACAGGAATGAGCCACCGCACCCAGCCTACAATTATTATTTTTAGCATGAAAGACCTGGGAGAGCCTGCCTGCTTTTGGTGAGGAGGGGTGACAGCTCTCTGGTGCCTGAGGAGGGAGACAGGGCCCTGGGGAAGGACAGATGAACAGACGAACGGACAAGCTCAGTCTCCGCAGGCCCTTGCCCACACCCTCTGCCGAGCACTCACTGAAGCTTCTGTAGCTCGCACACCAGCTCTGTCTTCTGCTCAGGGGCCCTGCGGGCAAAGACAGTGCCCTGGACCAGGACCTGGGAGCACAGGGAGATGGGGGAGGGCTGAGGCACCCACCAGGGAGAGCGAGCCGTGAGGAAGGAGACAGAGCAGGGGAGGCGCAGGGCGGCCAGGGAGCTGGGGGCGGCCCTACCTTGGGCAGCAGCTTGGGGAAGTGCTTCACAATGATACCAAAGGTGGGCCCGCTGAGGGCCAGGTGCCTGGATCGGGGGTCTGGCTCCACGGTGTAGCTTGCAGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGAGCTCCACATATACTCCTTTTTTTTCTTTTTTTAAGACAAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCTTCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGAGGGTGCGACCACACCAGGCTAATTTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGGCCTCAGGTGATCCCCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCACGAGCCATGTGCCCAGGCTACATATACTCCTTACTGCTGTGTGACTCTGCTGCCAAGTGCCCATGAATGTGTGTGCACATATGTGTGTGTGCAGGGGCGGGGAGGACAAGGACACAGACCTCTTAGCTCCTGCTGTCTCACCCTAGCTAGAATCTTTTTTTTTTTGAGACTGGGTCTCTCTCTGTTGCCCAGGCTGGAGTGAAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCCACCACCATACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCGTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACACTGTGCCCGGCCATTTTCGTATTCTTTGTAGAGACGGAGTTTTGCCATGTTGCCCAGGTTGGTCTTGAACTCCAGGGTTCAAGACATCCTTCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAGTACCGTGCCCGGCCAGAATCTTTCTCTTCCTGCTCCTTGAGCTTGTCACAGCCTCTGAGGCTGACATCATTATCCCCATTTCTCAGAGGTGCCACCTGGAACCCAGGCTGTCTGACAGCGCACATGGGTTCCTTGGAAGTCACTCCACTCCTCTGAGTCTCAGTTTCCTCATCTGTCAAACAGGGGTGACAATTACCACTTGCGGGGGGGATATTGTGAAGATTCACGAAATGTTTAAAAAGGACCTGGCCTGAAGCAAGGGCCCAAAAAGATGCCCCAAAAAGGAATCCCTGGTGCCCCTCTTCTCTGCCAGGAAGGGGCGGATTCTGCCCTGCTAGCCCGGGCCCCTACATGCCATTGTACCTGTCACCATGACGGCGCGGATGCGGGTCCTTCGCAGAGCCTGGATAACTGGC
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?
Pathogenic; Autosomal recessive spastic paraplegia type 78
AACTGGCGTTGTCTGCGGCTTCAGTAGGTTCCTCATGACCAGCAGCCCCAGGAGGCTCAGGTCTCCTTCCACAGTGTCCCTGGAGGGTGGGCAGACCTGGATCAGAGGTCATGCAGTGGCCAGGGCCCCTCTCCCAGCCACCAGGCAGGGCATCTTCCTTGGGCTCTGCCTGCGTGAGAGCCTCCCTCTGCCTAGTCCTCAGAGTGGGTGGGACAGGAGACAGGCCCACCTCGTCAGTTGCTGGGCTGCCTCCAGGCTGGGCACAGTGGGCAGTGGCTTGCTGGCCAGGGCCACGACACGGTAGCCAGCAGCTGTATAGCTCTGCAGCATCTGGGCGAAGTCGGTGGGCACTGCCAGGGAGAGGCAGGTGTCACAAGGAGGGGATGGCAGGGACAGAGGCTGGGTACCCACCCCATTCTGTGCCAATGCCCAACCAGGGGGACTCAGGGGCTTCCCCCTGCACCTGTCTCGGGGTTGCAGAGCCCTGCCACCAGCTCCGGGGAGCCTTTGACGTAGGCCTCGGGCTGAGTGGCCCCTGGCCACGCCACCACCACACTCATGCGCTGCAGAGCCGAAGAGAAGGGGAAGCGGTGGAGGACGCTGACTGGCACCGGGGGCTCCTCCTGCAGGGTTGGAGAGGCAGCTGAGGTGCTGGCTGGGGAGCCCACCCCTCTGCCCTGCACCCAACAGGCCCCCCTCAGCTCACCATTGCCTGCAGCTGGGGCTCCCAAAGTGGGGGTCTCATCACTGCCAAGACCTGGGTCCCAAATGCTGAGTCTGCAGCCGGCTCTTCCTCCAGGACCTGGCAGGCAGGCAGGGAAGTTTGGTGTCTGGGGGCTTTGGCTCACAGAGAGATTTGAGCTAGACTCAGGGAAGACTTCCTTCATGGGAGACTGAATGGTGGGTTAAGAATGTGGGCTTTGGAGCCCGGTGGACTCAAATTCAAACTCTAGCTTTGCTACTTACAAGCTGTTGGGTGACCTGGAATACGTCACTCCAAATCTCCCAGCCTCAGCATCCGTGAAGCAACATTTGAGCTTGCTTGCTAGGGCTTGGGGAAGAGGAAATGAGACCAGGCCTCTGTGGCCGTGCGCTGGCGCATAGTAGGCACTCAGCCTGAGGCCTTGCCATTATTATTATGTTACTTTTATTTTAAGACAGAGTCTTACTCTGTGACCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGCCTCCCGGATTCAAATGATTCTCCTGCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTTCCACCGCACTTGGCTAATTTTTGTATTTTTATTACAGACGGGGTTTCACTATGTTGGCCAGGCTGCTTTCAAACTTCCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGCACCTGGCCTATCATTATTATTTTTTGAGACAGGGTCTCGTTCTGTTACCCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCCCTGTAGCCTCGCCCTCCCGGGCTCAATTAATCCTCCCACCTCAGCCTCCTGGGACTACAGGCATGCACCACCACGCCCGGCTAATTTTTGTATTTTTGGCAGAGATGGGGTTTTGCCATGTAGGTCAGGCTGGGGTCCCGGGCTCAAGTGATCCTCCCGTCTTGGCCTCCCAAAGCGCCGGGAGCCACGTTACAGGTGTGAGCCACTGCGCCTGGCCTATTATTATTAATGGTGGGCATAATAAGAGACCACCCTGAAAGATGGAGAGGGAAGACAGGGTGGGATTCGTTAGGCCCCACTGCCCAGAGGCAGGGGGCTGACCTGCTTGGCCTCCTCACCCAGCCAGTAGACTCCACCATCTTCAAGTCCATGGGGTCGCCCACGGGGGTGTCCTGGAGCCGGCTGAGGGCATGGCAGGTGGCCAGTGCTCGGAGCAGGGGCCCCACAGGCAGGCGGCGAGGCTCTGGGACCAGGGGCAGGAATGCCTGCCCCTTCAGGGGCACCACCCCCATCACGTCTAAGCCGTCCTCAGTGAGGGTGCCCGTCTGTGGGAGACAGGTGGGTGGGGCAGCGATGAGTCCTGGGATGGGGGTACCCTGCTGAGCTGGGCCTCCAAACCCCAGGCCCGGCGGACCCTATGGGAACCCCAGGAACTCGAGCTGGAGCCAAAAGATGACCTTTCTTGACTGCTGTCCTTGGCACATGTGATTCCCTCTGCTGGGGTCCCCCTCCCCAGCCCCCACCGTCTCTCTGTCTAGCATCATCTCTTCCAGGGTGTCTTCCTCCTTAACTCCCAAGTTAGGGCAGGTGGTTTGCTCTGGGCTCCTACCCATGGCCTCTTCACTTCCCCACACTTGTGCATTGTGGTTAAGGACCCGGCCCACGGTTGGCTCGCTCTCTCTCTCTCATTTATTTATTTATTTATTTATTTATTTTTATTTTTATTTATTTTTATTTTTTGAGATGGAGTCTTGCTCTGTCGCCCGCGCTGGAGTGCAGTGGCGCAATCTCAGTTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTAGGATTATAGGCACGCGCTACCTCGCCCACCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTCAATATATCTGTTGAATGAGCGCATGAGTCAGTGCCTGCGTTCCCCATCCTAGACTCTAACTGCCCAAGTACGCGTCTGGCTCCTTGGCTAGCCTGGGAACTATAAGAATCTGGTCATCCCCCTCCCCGGTTTATTTATTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCCCAGCCTCCCGAGTAACTGGGACAACAGGCATATGTCACCGTGCCTGGCTAATTTTTTATATTTTCAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCGAAGTGCCGGGATTCCAGGCATGAGCCACTGCGCTGGGCCCCCTCCCCAGTTTAAAAGCGCTCTGTGGCCCCCGACAGCCTCTGAATGTCACCTAGCCTCTGTCAACCAGGCCACTGCCTACCCGGCCCTGTCCTGCTCCACCACTCCCTGTGCTCAGGTACGCAGCACATCTGTGCCACGCCACTCCCTGTGCCCCAGGCACACGGTACATCTGTGCTATGACACTCCCACCTTTTACCCTTGCTTCTCCTCGACCTGCCCCTCACTGAGGTCACTGAGGGACCTGCTCAGGGGGCTTCCTTGACTGCCTTCTCTCTAAGGAAGTGTCCCCATCTAGAACCCATCAAGCTATCCCACTGGCTTCCTTCCTAAAACCCACTGCCCACTCCTCAGCCCCAGCAGCTCCTTTGTGCACTCCTGGATCACTTACTTTGGTGGGGGACACACACACTCCAGTGACCACAAGGATGCCTGTGTTGGTCACTGCTGGGCCCCAAGGGTTGGGAGCAGCACGGGATGCACACTAGGGCCCCAGGTCCCCACCAGTAATTTTTTTTTTTTTTTGAGTTTTGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTTGGCTCACTGCAACCTCTGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCATCATGCCTGGCTAACTTTTGTATTTTTAGTAGACGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATGTATCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCCGGCCCCCCACCAGTTCTTGAACACATGAATACATGATTCTAGACATTTCATCTGCCAGACCGTGAGCCCAGTGAGGGCAGGAGTGGGATGGGGTGGATCCTCTGGGGGTTTCCATCCCTAGACAGGACCTGGCA
AACTGGCGTTGTCTGCGGCTTCAGTAGGTTCCTCATGACCAGCAGCCCCAGGAGGCTCAGGTCTCCTTCCACAGTGTCCCTGGAGGGTGGGCAGACCTGGATCAGAGGTCATGCAGTGGCCAGGGCCCCTCTCCCAGCCACCAGGCAGGGCATCTTCCTTGGGCTCTGCCTGCGTGAGAGCCTCCCTCTGCCTAGTCCTCAGAGTGGGTGGGACAGGAGACAGGCCCACCTCGTCAGTTGCTGGGCTGCCTCCAGGCTGGGCACAGTGGGCAGTGGCTTGCTGGCCAGGGCCACGACACGGTAGCCAGCAGCTGTATAGCTCTGCAGCATCTGGGCGAAGTCGGTGGGCACTGCCAGGGAGAGGCAGGTGTCACAAGGAGGGGATGGCAGGGACAGAGGCTGGGTACCCACCCCATTCTGTGCCAATGCCCAACCAGGGGGACTCAGGGGCTTCCCCCTGCACCTGTCTCGGGGTTGCAGAGCCCTGCCACCAGCTCCGGGGAGCCTTTGACGTAGGCCTCGGGCTGAGTGGCCCCTGGCCACGCCACCACCACACTCATGCGCTGCAGAGCCGAAGAGAAGGGGAAGCGGTGGAGGACGCTGACTGGCACCGGGGGCTCCTCCTGCAGGGTTGGAGAGGCAGCTGAGGTGCTGGCTGGGGAGCCCACCCCTCTGCCCTGCACCCAACAGGCCCCCCTCAGCTCACCATTGCCTGCAGCTGGGGCTCCCAAAGTGGGGGTCTCATCACTGCCAAGACCTGGGTCCCAAATGCTGAGTCTGCAGCCGGCTCTTCCTCCAGGACCTGGCAGGCAGGCAGGGAAGTTTGGTGTCTGGGGGCTTTGGCTCACAGAGAGATTTGAGCTAGACTCAGGGAAGACTTCCTTCATGGGAGACTGAATGGTGGGTTAAGAATGTGGGCTTTGGAGCCCGGTGGACTCAAATTCAAACTCTAGCTTTGCTACTTACAAGCTGTTGGGTGACCTGGAATACGTCACTCCAAATCTCCCAGCCTCAGCATCCGTGAAGCAACATTTGAGCTTGCTTGCTAGGGCTTGGGGAAGAGGAAATGAGACCAGGCCTCTGTGGCCGTGCGCTGGCGCATAGTAGGCACTCAGCCTGAGGCCTTGCCATTATTATTATGTTACTTTTATTTTAAGACAGAGTCTTACTCTGTGACCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGCCTCCCGGATTCAAATGATTCTCCTGCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTTCCACCGCACTTGGCTAATTTTTGTATTTTTATTACAGACGGGGTTTCACTATGTTGGCCAGGCTGCTTTCAAACTTCCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGCACCTGGCCTATCATTATTATTTTTTGAGACAGGGTCTCGTTCTGTTACCCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCCCTGTAGCCTCGCCCTCCCGGGCTCAATTAATCCTCCCACCTCAGCCTCCTGGGACTACAGGCATGCACCACCACGCCCGGCTAATTTTTGTATTTTTGGCAGAGATGGGGTTTTGCCATGTAGGTCAGGCTGGGGTCCCGGGCTCAAGTGATCCTCCCGTCTTGGCCTCCCAAAGCGCCGGGAGCCACGTTACAGGTGTGAGCCACTGCGCCTGGCCTATTATTATTAATGGTGGGCATAATAAGAGACCACCCTGAAAGATGGAGAGGGAAGACAGGGTGGGATTCGTTAGGCCCCACTGCCCAGAGGCAGGGGGCTGACCTGCTTGGCCTCCTCACCCAGCCAGTAGACTCCACCATCTTCAAGTCCATGGGGTCGCCCACGGGGGTGTCCTGGAGCCGGCTGAGGGCATGGCAGGTGGCCAGTGCTCGGAGCAGGGGCCCCACAGGCAGGCGGCGAGGCTCTGGGACCAGGGGCAGGAATGCCTGCCCCTTCAGGGGCACCACCCCCATCACGTCTAAGCCGTCCTCAGTGAGGATGCCCGTCTGTGGGAGACAGGTGGGTGGGGCAGCGATGAGTCCTGGGATGGGGGTACCCTGCTGAGCTGGGCCTCCAAACCCCAGGCCCGGCGGACCCTATGGGAACCCCAGGAACTCGAGCTGGAGCCAAAAGATGACCTTTCTTGACTGCTGTCCTTGGCACATGTGATTCCCTCTGCTGGGGTCCCCCTCCCCAGCCCCCACCGTCTCTCTGTCTAGCATCATCTCTTCCAGGGTGTCTTCCTCCTTAACTCCCAAGTTAGGGCAGGTGGTTTGCTCTGGGCTCCTACCCATGGCCTCTTCACTTCCCCACACTTGTGCATTGTGGTTAAGGACCCGGCCCACGGTTGGCTCGCTCTCTCTCTCTCATTTATTTATTTATTTATTTATTTATTTTTATTTTTATTTATTTTTATTTTTTGAGATGGAGTCTTGCTCTGTCGCCCGCGCTGGAGTGCAGTGGCGCAATCTCAGTTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTAGGATTATAGGCACGCGCTACCTCGCCCACCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTCAATATATCTGTTGAATGAGCGCATGAGTCAGTGCCTGCGTTCCCCATCCTAGACTCTAACTGCCCAAGTACGCGTCTGGCTCCTTGGCTAGCCTGGGAACTATAAGAATCTGGTCATCCCCCTCCCCGGTTTATTTATTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCCCAGCCTCCCGAGTAACTGGGACAACAGGCATATGTCACCGTGCCTGGCTAATTTTTTATATTTTCAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCGAAGTGCCGGGATTCCAGGCATGAGCCACTGCGCTGGGCCCCCTCCCCAGTTTAAAAGCGCTCTGTGGCCCCCGACAGCCTCTGAATGTCACCTAGCCTCTGTCAACCAGGCCACTGCCTACCCGGCCCTGTCCTGCTCCACCACTCCCTGTGCTCAGGTACGCAGCACATCTGTGCCACGCCACTCCCTGTGCCCCAGGCACACGGTACATCTGTGCTATGACACTCCCACCTTTTACCCTTGCTTCTCCTCGACCTGCCCCTCACTGAGGTCACTGAGGGACCTGCTCAGGGGGCTTCCTTGACTGCCTTCTCTCTAAGGAAGTGTCCCCATCTAGAACCCATCAAGCTATCCCACTGGCTTCCTTCCTAAAACCCACTGCCCACTCCTCAGCCCCAGCAGCTCCTTTGTGCACTCCTGGATCACTTACTTTGGTGGGGGACACACACACTCCAGTGACCACAAGGATGCCTGTGTTGGTCACTGCTGGGCCCCAAGGGTTGGGAGCAGCACGGGATGCACACTAGGGCCCCAGGTCCCCACCAGTAATTTTTTTTTTTTTTTGAGTTTTGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTTGGCTCACTGCAACCTCTGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCATCATGCCTGGCTAACTTTTGTATTTTTAGTAGACGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATGTATCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCCGGCCCCCCACCAGTTCTTGAACACATGAATACATGATTCTAGACATTTCATCTGCCAGACCGTGAGCCCAGTGAGGGCAGGAGTGGGATGGGGTGGATCCTCTGGGGGTTTCCATCCCTAGACAGGACCTGGCA
Task1_train_356
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?
Pathogenic; Paragangliomas 4
CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGAAGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
Task1_train_357
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?
Pathogenic; Gastrointestinal stromal tumor
CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGAAGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
Task1_train_358
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.
Pathogenic; Pheochromocytoma
CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGAAGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCC
Task1_train_359
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?
Pathogenic; Hereditary cancer-predisposing syndrome
CACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGC
CACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCGGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGC
Task1_train_360
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?
Pathogenic; Hereditary pheochromocytoma-paraganglioma
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
Task1_train_361
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.
Pathogenic; Paragangliomas 4
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
Task1_train_362
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?
Pathogenic; Hereditary cancer-predisposing syndrome
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
Task1_train_363
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?
Pathogenic; Paragangliomas 4
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
Task1_train_364
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?
Pathogenic; Gastrointestinal stromal tumor
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
Task1_train_365
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?
Pathogenic; Pheochromocytoma
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCTGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGC
Task1_train_366
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.
Pathogenic; Gastrointestinal stromal tumor
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
Task1_train_367
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.
Pathogenic; Paragangliomas 4
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
Task1_train_368
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?
Pathogenic; Pheochromocytoma
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
Task1_train_369
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?
Pathogenic; Gastrointestinal stromal tumor
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
Task1_train_370
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.
Pathogenic; Hereditary cancer-predisposing syndrome
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
Task1_train_371
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?
Pathogenic; Paragangliomas 4
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGAGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
Task1_train_372
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?
Pathogenic; Paragangliomas 4
CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCCATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
Task1_train_373
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.
Pathogenic; Pheochromocytoma
CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCCATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
Task1_train_374
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?
Pathogenic; Gastrointestinal stromal tumor
CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCCATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
Task1_train_375
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?
Pathogenic; Paragangliomas 4
CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCCATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCC
Task1_train_376
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?
Pathogenic; Gastrointestinal stromal tumor
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
Task1_train_377
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.
Pathogenic; Hereditary pheochromocytoma-paraganglioma
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
Task1_train_378
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.
Pathogenic; Paragangliomas 4
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
Task1_train_379
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?
Pathogenic; Paragangliomas 4
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
Task1_train_380
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?
Pathogenic; Pheochromocytoma
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
Task1_train_381
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?
Pathogenic; Gastrointestinal stromal tumor
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
Task1_train_382
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?
Pathogenic; Carney-Stratakis syndrome
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
Task1_train_383
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?
Pathogenic; Paragangliomas 4
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
Task1_train_384
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?
Pathogenic; Mitochondrial complex 2 deficiency, nuclear type 4
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
Task1_train_385
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.
Pathogenic; Gastrointestinal stromal tumor
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
Task1_train_386
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.
Pathogenic; Hereditary cancer-predisposing syndrome
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCAACAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
Task1_train_387
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?
Pathogenic; Hereditary cancer-predisposing syndrome
TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGTAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
Task1_train_388
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?
Pathogenic; Gastrointestinal stromal tumor
TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGTAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
Task1_train_389
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.
Pathogenic; Pheochromocytoma
TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGTAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
Task1_train_390
Consider a variant on Chromosome 1 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Determine its clinical classification and disease relevance.
Pathogenic; Paragangliomas 4
TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGTAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
Task1_train_391
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.
Pathogenic; Paragangliomas 4
TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGTAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTC
Task1_train_392
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?
Pathogenic; Gastrointestinal stromal tumor
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
Task1_train_393
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.
Pathogenic; Paragangliomas 4
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
Task1_train_394
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?
Pathogenic; Pheochromocytoma
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
Task1_train_395
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?
Pathogenic; Paragangliomas 4
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
Task1_train_396
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?
Pathogenic; Hereditary pheochromocytoma-paraganglioma
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
Task1_train_397
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?
Pathogenic; Hereditary cancer-predisposing syndrome
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTATAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTT
Task1_train_398
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.
Pathogenic; Gastrointestinal stromal tumor
CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTC
CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACGGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTC
Task1_train_399
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?
Pathogenic; Paragangliomas 4
CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTC
CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACGGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTC