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_19600
|
Consider this mutation in TGM1 (transglutaminase 1) on Chromosome 14. Is this a benign change or a disease-causing variant?
|
Pathogenic; Autosomal recessive congenital ichthyosis 1
|
TGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCT
|
TGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACACGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCT
|
Task1_train_19601
|
This alteration occurs within gene TGM1 (transglutaminase 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Autosomal recessive congenital ichthyosis 1
|
CTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGT
|
CTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGATCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGT
|
Task1_train_19602
|
The gene TGM1 (transglutaminase 1) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Autosomal recessive congenital ichthyosis 1
|
AATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCA
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AATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGGGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCA
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Task1_train_19603
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Assess the clinical impact of this variant on gene TGM1 (transglutaminase 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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CCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAG
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CCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGAGCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAG
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Task1_train_19604
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This alteration in TGM1 (transglutaminase 1) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Lamellar ichthyosis
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CCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAG
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CCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGAGCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAG
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Task1_train_19605
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A mutation in TGM1 (transglutaminase 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not provided
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GTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAG
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GTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGCAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAG
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Task1_train_19606
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Here is a mutation in TGM1 (transglutaminase 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Lamellar ichthyosis
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TCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAG
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TCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACCCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAG
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Task1_train_19607
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This sequence change occurs on Chromosome 14, altering TGM1 (transglutaminase 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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TCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAG
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TCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACCCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAG
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Task1_train_19608
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A change on Chromosome 14 affects gene TGM1 (transglutaminase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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GCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGA
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GCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGCGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGA
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Task1_train_19609
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Gene TGM1 (transglutaminase 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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AGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAG
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AGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCTCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAG
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Task1_train_19610
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Consider a variant on Chromosome 14 in gene TGM1 (transglutaminase 1). Determine its clinical classification and disease relevance.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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GGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGG
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GGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCTGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGG
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Task1_train_19611
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Here’s a variant in TGM1 (transglutaminase 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Lamellar ichthyosis
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GGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGG
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GGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCTGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGG
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Task1_train_19612
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Assess the clinical impact of this variant on gene TGM1 (transglutaminase 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; not provided
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GGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGC
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GGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCCGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGC
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Task1_train_19613
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This sequence change occurs on Chromosome 14, altering TGM1 (transglutaminase 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Lamellar ichthyosis
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CAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTC
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CAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCATGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTC
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Task1_train_19614
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A change on Chromosome 14 affects gene TGM1 (transglutaminase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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CAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTC
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CAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCATGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTC
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Task1_train_19615
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The variant affects gene TGM1 (transglutaminase 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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AATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGG
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AATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCCGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGG
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Task1_train_19616
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This variant affects the gene TGM1 (transglutaminase 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Lamellar ichthyosis
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AATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGG
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AATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCCGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGG
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Task1_train_19617
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Gene TGM1 (transglutaminase 1), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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ATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTA
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ATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGTCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTA
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Task1_train_19618
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Consider this mutation in TGM1 (transglutaminase 1) on Chromosome 14. Is this a benign change or a disease-causing variant?
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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TACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCT
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TACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGGTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCT
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Task1_train_19619
|
A sequence alteration has been identified in TGM1 (transglutaminase 1) on Chromosome 14. Is it disease-inducing or harmless?
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Pathogenic; Autosomal recessive congenital ichthyosis 1
|
AAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCT
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AAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCTGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCT
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Task1_train_19620
|
Given this context: Chromosome 14, gene TGM1 (transglutaminase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; not provided
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GTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCT
|
GTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCTCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCT
|
Task1_train_19621
|
Consider a variant on Chromosome 14 in gene TGM1 (transglutaminase 1). Determine its clinical classification and disease relevance.
|
Pathogenic; not provided
|
TTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTC
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TTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCGGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTC
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Task1_train_19622
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Located on Chromosome 14, this mutation impacts TGM1 (transglutaminase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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ATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCG
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ATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTACCACTGCTAGTCTCTTGGGGTGTGGCATCCACCACCTGCCACCCATCAAAGCCCGAGGGCAGATCCGGCCTCTTCATCCAGCAGTCGTTCCACACATGGAAGTTCCTGGATGGACATGGAGGAGGGGCTGGGTCTGAGCCCCAGGGTCAGGAGTCCTCAGTTTCCCCAGCCTCCCCAGCCCTGCCCACCCTCCACCTCCAAAGCTCAGGTCACCATTCTTCAGCACAGATGGGCAGTCCACCCCAGCTCACCAGACAGAATCATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTTAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCG
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Task1_train_19623
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A variant affecting Chromosome 14, within the gene TGM1 (transglutaminase 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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CATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATC
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CATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCTCTCTCTGTTGTTAACACTAATTAATGATAATTAAGGCCAGCCTATTACCCACCCCCGCCTGCACCCTGCACTGTAGCCACATCTGGGCAGGGCTGGGTAAGCCTGGCTTTCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGGTGGTCACGCCAGCAAAGACCCAGCACTGGCCATAGGGGACGGAATATCCCGTGCGTAGGTAGCTAAGCAGGATCTCCACGCTGCCCACCCACGCTGATGGGTTGGTGCCTCGGGAGTAATCACCAGACCAGTTCCCAATCAGGACTCCATTGTCATCCAGGGAGTTCACCTGCCCAGGACAGGATGAGATAGGGCGGAGGTGGAGGAGGGGCTCAGGACCTGCCATGTGGTCCATGGGGACCAGCCGGGCCCCGATCCTGCAACCACCCCTTACCCCTAAATGCCTCAGGATCCAGACACCAGCCTGAGCTCCACCCAGCCCTTCCCTCAGCCATCTGCCCCCCTCCCACCCGGGCTCTGACACAGGAATGTGAATCCTGGGTGTGCCAAGTTTTGGGTTTGGCCCTACATTCCACAGGAGCTGGGACAGGAGCCAGGAAAGGCGGGGTGGGGGGCAGGCAAGGGAGAGAAGAGGAGGGAGACCCCTTCCTGAAGTATCCTTTACGAGGGCAGGGACAGGGCTGGGGGTTCTTGAGGAATCCAGAAAGGGCAGGAGGAGGGTGGGGGTGTGGCGAGGCAGCAGGCACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCTGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATC
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Task1_train_19624
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The following genetic variant occurs in TGM1 (transglutaminase 1) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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TAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCA
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TAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCACAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCA
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Task1_train_19625
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Here is a genetic alteration in TGM1 (transglutaminase 1) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; not provided
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GACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCA
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GACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCGGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCA
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Task1_train_19626
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This mutation is located in gene TGM1 (transglutaminase 1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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ATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATC
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ATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCAGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATC
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Task1_train_19627
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This mutation occurs in TGM1 (transglutaminase 1) on Chromosome 14. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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ATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATC
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ATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCCGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATC
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Task1_train_19628
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Mutation context: Chromosome 14, Gene TGM1 (transglutaminase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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TGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATCTC
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TGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGGGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATCTC
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Task1_train_19629
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This variant affects gene TGM1 (transglutaminase 1) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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TGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATCTCATTTCACGTCCCCCACCCCCGCTGTAGCCTCGGGGGTTAGGGGATGTT
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TGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGTGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATCTCATTTCACGTCCCCCACCCCCGCTGTAGCCTCGGGGGTTAGGGGATGTT
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Task1_train_19630
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Gene TGM1 (transglutaminase 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Lamellar ichthyosis
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TGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATCTCATTTCACGTCCCCCACCCCCGCTGTAGCCTCGGGGGTTAGGGGATGTT
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TGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGTGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATCTCATTTCACGTCCCCCACCCCCGCTGTAGCCTCGGGGGTTAGGGGATGTT
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Task1_train_19631
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This variant affects the gene TGM1 (transglutaminase 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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AGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCATCTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATCTCATTTCACGTCCCCCACCCCCGCTGTAGCCTCGGGGGTTAGGGGATGTTTAGGCCTTTCCACTCAGGCTTGGGTGGGAACTGAGTCCCCCTTCCAGGGGTACAGAGTACCTTTCTCTCACTGAGAGGAGTCTCTGCTCAGTTGGACTAGAGGATTCCCTTTTCTCCAACCTGGAATTCTTCCTGGGAATCCAGACCAACCGGCTCAGGCACCTGTGCTGTGTGCATCCTTACTCCACCCCGTCACTGGGGAAACACTGAGGATGGCACCAA
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AGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTCTCATCTGCCCAATGGGAGGCTGGCTTCTCCTGGGGTCAGGCACCTAGGCACCCCGCCACATCCGAGGGCAGGAAGCCCTTCCCTGTCTTTCCCTCCCATCTACCCTCTGCTCCAGACCCCAGCTGCTCACCTGGGCACCAGGGGTTGAAGAGGATGTAGATCTCATTGCGGGGGTCAAAGGGCAACTGGAACTCCCCAGCGTCTGATTGTGTGCGGACTGTGAACTGAAACTTGCCGATGATGGCGTTGGGGGAAGTGTGGACCCGCAGGTTCAGATTCTGCCCACTGGCCTTGACCACCTGGGCTTTCCAGCCTCCACTGCCCCCCTTGCCCACTGGGATGATCACGTGCGTGCCCTTGCCCACCTCGGGGTTGTTTCCTAGAGTAGGAAATCAGCAATTAGCTGGCAAGGCCTCCCTGAGGAGAGGGGATGGAGCCTGGGACTTCTCCCGGCCCCACCCACAATGTGTATGAGCCACTGTGTATGTCCCTACGTTGGGCCATCACCTTATTCTCTGACAGTCTCCCTTAGAGCAGCTCTGTCTCCACCCAATGCTTGCCCACATGTTAGGGCAGTGCCGCAGTCCAACATCCCAAACCTGTTCCCCTGACACTGAACTCTGAGGTGGGGAGGAGAGACGAGGGCTCCTGTCACCTTCTGCCTGCCTGACTATCACAGTGCCTGGGCTGGAGGGGCAGATCCACCTGCCCCGTATGAAAGGGCAGTCCTGATCCTGAAGGCCAACCCTGCCTGCTTCCTGGGGCTGCAGCTTCCAGAGCCCAGGGCATCCCTGGTGGAGGTGGTAGGGGTTCCTGGGAAATTAAAGGATGAGGTGGGCAAGGTTAGGCCCTAATCAAAGGGTAAAAGGAGTCACCTGCCCCAGGCAGCAGCATAATCACCAGCCTGAGAAGTCAAGCTACACCAAGCAACGCGGTAAGGGAGGCACCTGCCTTGGGTCATGGGGACAGAGGGACAGAGACAGAGAGAGACAGAATTGGCAGAGATGGGGGACATGGAAGGCAAGAGGGAGAGAGAGAGATAGAAGAGAGAACCAGCCACATCCTGGGGAATGAGAACAGATGCACAAAGGACAGAGCAGCAATGCCGAAGGAGGCACCGAGGCAGGCCCTGAAGAGGAGTACTCTGAGACCGATGCCCCAGGAGGCTTGAGGAGGATGGGCTTGGGAAAAACTGCAACACCAAGACCCTCTCTGAGACACAACCCCAGGGGCACACCCACACACTTGCACCTGCCTTATCTGGCAGAGGTGAGGAGTGGGGCAGGGAGGAGCCTAAAGACCTCTCTGACCCTAATGCCAGCCTCTCCCCACCAAACATAGGGCCTTCACCCGTCCCAATCCAAGCCCCACTGACCGATGAGTAACTCAAGGGTGATGCGATCAGAGGATTCATAGGTCCGGGACAGGAGGAGGAGCATATGGAAAGGCTGCCCGCGGCGCACTATCAGCTCGTCGTACTCATACTCGTCTGTGTGGTGCTCTCGGCGGTTCTGGTCCGAGCGCGAGCTCAGCAAGTCCACACCGTTCACTACTAGCATGCCCTCTGCAAGGACACAGCTCCGTGTCAGTGAAGCCCCATGAGGAGCCCAGGCCCTTATCATTAGCTTCCTATCCCCCCCAGAAATGCCAGGCTGAGTCTCTGGTCCCATTAAAGCCTTTTAGCTCTCAGCTGAGGAGGACAGACCGGCCTCACCTCGGATGGTGCCAACTCCAGCTGCATTGACACCGCTGCCCCGGGATACAGGCCGGCGGGAGTCTGAGCCCCGGGAGCCAGGTCTTCGAGTGCCAGAGCTGGACCCTCGACCCCTGGAGTCAGAGGGTTCAGGTCCCCAGTCGTCATCTGCCGCATTTCGGCATGAACAGCAGCCACAGCAGCGAGCCCAGAAGGAACGGCCTCCTCCTCTGCGAGAGCGTCCGTCTGGCTCTGGCTCTGGCTCTGGAGATGGCGTGGTAGGGGGCTGCAAGGGGTTGCCACCCCAACGGCCCACATCGGAACGTGGCCCATCCATCATGCCTGTTAGGAAGAGGCAGGGTGGCTCCTTAACCCAGGTAGTCCCAGCCAGTTGACCCAGAAACCCTCCATCCAGACAGCTGATTCAGTCCCACCCGATGACCGAAACAATCCCACCTTGGCCCAGAGATTCTCCAGACACATCCAGAGACCTTCCGCGAAGACCATTCAGACTCACCCAGAGAAGCTTCTCATGCTGCAGAGAAAAGCCTTCCCCTCACCCCCACCAAACAACATCCGAAAAACTGCCCAATGAAGAAACCCACTCAACGATCCATCCCAGGAAATCCACATAGTTCCCTGCATGGACACTTGTCCCAGCCTCAAGACCCAGCTGCACACACATCAGAGTGCTCCAGCATCCCTGGGCCTGGTCCGTCCACCTGCTAGCTCTGCAGTCTAGAGGTGCACAACACTGACAGCTTCTAGAACTCATTTCTTAGCAGAAATCCCCCAACTCAAGGTTCCTCACAAGACAGACAAGTGACCCCGGGGCCTGTGGTCCTTGGCATTCCCAAGTCAGGGAAGACCCCACTTGGGGCTGCCAGGAGGGGTAGGGCATGGCAGGTGCCCGGAGCCTGTGCACAGGGAAAGCAGAGTCTTGGTGTTGGGAACAGCCTAGCTGGGGCTGACAGGTACACAGCTGGCCCACACCCCACCTTGCTGGATCCAGGCACGGCCTCTGATAGTGTGGGCCGCCTGGACTCGGCACCACAGTACCCGTGGGAGCCCCTCACCTGGCAGCAGTGTTGGCAACCGCAGTACTGAGTCCTGGGGCTGAGATGGAACAGGTCAGGATGGATGGGACAGGACCCACAGACTGGATGCCGCAGGGACAGACCTGGTAAGTGACTTATGTGGGAGGGAGGGGCCAAACTGCTGTAGGGGGCGGAGAGAAGAGGCCAGGCCTCTGGGCGGGAAATGGGGAGAAGATGCTAGGGAGGGAGCAGGGGTGAGGTCTGGGGGCTTAGGCTGGGCTTTGGTGGGAGCCACCGCTGTGATGGCCCCTGGCACCAGGCTGATTCCTACCAGACTGGGCATGTGAGGAGCCCCTTCTCCCGGATGAAGAAGCTGCAAGGGCAGTGGGGCAGGCAGGCCCTTCCACCCACAGCCCTGTCTGGCCGACCTTCTGGTCCCAAGCTTAGGCTGCCTACCTCTGCTCTCACAGGCTCCTGCTGCCGAGTTCTGTGCAGCCCAAGCCAGGCTCAGCCCTATGAAATTGGCCCAGGGGCCTGGTCCTGGAACTCATCCTGCCCAGGGAGGTCCTGGGATCCCAGGTTGCAGACTGGTGACATCAGCAGCCAGGCCCTCAGACTGGCTCCACCAGCTAACCCCTGACCTGCTGGCTCTACCAGATATTCTGACTCCCTCCACCCCCAAGTCTGTCCCTTCTTTCTCAGCTGCTCTACAGCCCCAGGCATGAGTGAGCTGCCCTCAAGTTTGGGATTAGGGAGATCAGAGTAGGAGCAATCTCATTTCACGTCCCCCACCCCCGCTGTAGCCTCGGGGGTTAGGGGATGTTTAGGCCTTTCCACTCAGGCTTGGGTGGGAACTGAGTCCCCCTTCCAGGGGTACAGAGTACCTTTCTCTCACTGAGAGGAGTCTCTGCTCAGTTGGACTAGAGGATTCCCTTTTCTCCAACCTGGAATTCTTCCTGGGAATCCAGACCAACCGGCTCAGGCACCTGTGCTGTGTGCATCCTTACTCCACCCCGTCACTGGGGAAACACTGAGGATGGCACCAA
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Task1_train_19632
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The gene FOXG1 (forkhead box G1) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Rett syndrome, congenital variant
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ACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGC
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ACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAACCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGC
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Task1_train_19633
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This variant impacts the gene FOXG1 (forkhead box G1) on Chromosome 14. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Rett syndrome, congenital variant
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GCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTT
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GCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCAGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTT
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Task1_train_19634
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This sequence change occurs on Chromosome 14, altering FOXG1 (forkhead box G1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Rett syndrome, congenital variant
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GAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAG
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GAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACGACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAG
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Task1_train_19635
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This variant affects gene FOXG1 (forkhead box G1) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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GAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAG
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GAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACTACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAG
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Task1_train_19636
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Here is a genetic alteration in FOXG1 (forkhead box G1) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; FOXG1 disorder
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GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGC
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GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAAAGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGC
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Task1_train_19637
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An alteration has been detected in FOXG1 (forkhead box G1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Rett syndrome, congenital variant
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GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGC
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GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAAGGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGC
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Task1_train_19638
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This genomic variant is located on Chromosome 14, within the FOXG1 (forkhead box G1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Inborn genetic diseases
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GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGC
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GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAAGGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGC
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Task1_train_19639
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A mutation found in FOXG1 (forkhead box G1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Rett syndrome, congenital variant
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GAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTT
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GAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGTTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTT
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Task1_train_19640
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A variant was discovered in gene FOXG1 (forkhead box G1), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Rett syndrome, congenital variant
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ATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCT
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ATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCCGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCT
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Task1_train_19641
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Consider this mutation in FOXG1 (forkhead box G1) on Chromosome 14. Is this a benign change or a disease-causing variant?
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Pathogenic; Rett syndrome, congenital variant
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GCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTG
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GCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGATCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTG
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Task1_train_19642
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Gene FOXG1 (forkhead box G1), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Rett syndrome
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GCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTG
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GCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGATCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTG
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Task1_train_19643
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Mutation context: Chromosome 14, Gene FOXG1 (forkhead box G1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Rett syndrome, congenital variant
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ATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAA
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ATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGTTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAA
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Task1_train_19644
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Given this variant in gene FOXG1 (forkhead box G1) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; FOXG1 disorder
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TTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGAT
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TTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGTTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGAT
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Task1_train_19645
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This gene mutation involves FOXG1 (forkhead box G1) on Chromosome 14. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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TGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTT
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TGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCCACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTT
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Task1_train_19646
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Gene FOXG1 (forkhead box G1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Rett syndrome, congenital variant
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TTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATA
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TTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCACCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATA
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Task1_train_19647
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This variant affects gene FOXG1 (forkhead box G1) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
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Pathogenic; Rett syndrome, congenital variant
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CCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTG
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CCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTACCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTG
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Task1_train_19648
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A variant found in Chromosome 14 affects FOXG1 (forkhead box G1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Rett syndrome, congenital variant
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CCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTG
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CCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTGCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTG
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Task1_train_19649
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A genetic alteration is present in FOXG1 (forkhead box G1) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; FOXG1 disorder
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CCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTT
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CCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCACCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTT
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Task1_train_19650
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The gene FOXG1 (forkhead box G1) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Rett syndrome, congenital variant
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CGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTT
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CGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCGCAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTT
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Task1_train_19651
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The following genetic variant occurs in FOXG1 (forkhead box G1) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Rett syndrome
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CCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCA
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CCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACACTCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCA
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Task1_train_19652
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This mutation is located in gene FOXG1 (forkhead box G1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Rett syndrome
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CCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCA
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CCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAGTCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCA
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Task1_train_19653
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A variant affecting Chromosome 14, within the gene FOXG1 (forkhead box G1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Rett syndrome, congenital variant
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GCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTAT
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GCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGCCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTAT
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Task1_train_19654
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A variant was discovered on Chromosome 14, affecting FOXG1 (forkhead box G1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; FOXG1 disorder
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GCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTAT
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GCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGCCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTAT
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Task1_train_19655
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This variant affects the gene FOXG1 (forkhead box G1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; FOXG1 disorder
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GCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTT
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GCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCGACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTT
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Task1_train_19656
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A sequence alteration has been identified in FOXG1 (forkhead box G1) on Chromosome 14. Is it disease-inducing or harmless?
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Pathogenic; not provided
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ACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAA
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ACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAAAAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAA
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Task1_train_19657
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Consider a variant on Chromosome 14 in gene FOXG1 (forkhead box G1). Determine its clinical classification and disease relevance.
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Pathogenic; Inborn genetic diseases
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CCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTG
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CCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTGGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTG
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Task1_train_19658
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The variant affects gene FOXG1 (forkhead box G1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Rett syndrome, congenital variant
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TCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAAT
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TCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGTGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAAT
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Task1_train_19659
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Given this variant in gene FOXG1 (forkhead box G1) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; FOXG1 disorder
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TCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAAT
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TCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGTGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAAT
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Task1_train_19660
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This genomic variant is located on Chromosome 14, within the FOXG1 (forkhead box G1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; FOXG1 disorder
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CCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTT
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CCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGAGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTT
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Task1_train_19661
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A variant on Chromosome 14 in gene FOXG1 (forkhead box G1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; not provided
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CCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTT
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CCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGCGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTT
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Task1_train_19662
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An alteration has been detected in FOXG1 (forkhead box G1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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GCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTA
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GCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACCGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTA
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Task1_train_19663
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Assess the clinical impact of this variant on gene FOXG1 (forkhead box G1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Rett syndrome, congenital variant
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CCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATA
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CCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGTATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATA
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Task1_train_19664
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Here is a variant affecting FOXG1 (forkhead box G1) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Rett syndrome, congenital variant
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CCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCA
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CCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCCGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCA
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Task1_train_19665
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This mutation is located in gene FOXG1 (forkhead box G1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Inborn genetic diseases
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GAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATA
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GAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCGGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATA
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Task1_train_19666
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This is a variant in FOXG1 (forkhead box G1), located on Chromosome 14. Is this mutation a likely cause of disease or not?
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Pathogenic; Rett syndrome, congenital variant
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CCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGA
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CCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGGGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGA
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Task1_train_19667
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A variant has been detected on Chromosome 14 in FOXG1 (forkhead box G1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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TTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACA
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TTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCAACGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACA
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Task1_train_19668
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Here is a variant affecting FOXG1 (forkhead box G1) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Rett syndrome, congenital variant
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TTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACA
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TTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCACCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACA
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Task1_train_19669
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Here is a variant affecting FOXG1 (forkhead box G1) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; FOXG1 disorder
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TGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACAGA
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TGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCAGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACAGA
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Task1_train_19670
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A variant found in Chromosome 14 affects FOXG1 (forkhead box G1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Rett syndrome, congenital variant
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CTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACAGAGCCCTTCAGTTCAGGTACAATT
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CTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCAGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACAGAGCCCTTCAGTTCAGGTACAATT
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Task1_train_19671
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Located on Chromosome 14, this mutation impacts FOXG1 (forkhead box G1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Rett syndrome, congenital variant
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CTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACAGAGCCCTTCAGTTCAGGTACAATT
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CTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCCGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACAGAGCCCTTCAGTTCAGGTACAATT
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Task1_train_19672
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This variant affects the gene FOXG1 (forkhead box G1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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TGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTCGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACAGAGCCCTTCAGTTCAGGTACAATTTGCGCTATGAATGCTGCAAACATTTTTGTTTAAATATTTGTATTTATACTTTCTAAGTCAGCATTTATTTTTGTGGCTGTTTACCCACAATGAAAGAGTTCTAATAAAGATGTGCTGAAGTTGCAATATAGATTTTGCTGAAGTGATCACCTGTTTAATGACTTGCAGATCAATGTTTATATTTTATTTTAAAATTATAACAATTTAGAATTCTAGATATTCAGAAGTAAAATGCCTCTTTTTTTAATTTTTACAATGTAGAGGTATTTATTTGATTCCCTTTTAAATGTCTGTGTAATTCAATCTAGAGATTTGTTCCTTTTGTTTAGTCATAATTTTAACTTTCCATATGCATAT
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TGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGGTGGGGGGGGAGACCAAGAAGTACAGTTGGGAGCGAGGGAGCTTCACCCCCGGGGCGGTGGTTGTTTCTTTTTTCTTTCTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTTTCTAATTCCTGAGGGGTGGTTGCTGCTTTTGCTACATGACTTGCCAGCGCCCGAGCCTGCGGTCCAACTGCGCTGCTGCCGGAGCGCTCAGTGCCGCCGCTGCCGCCCGCGCCCCCCGCGCCCCGTTCGGCACCCACCGGTCGCCGCCGCCCGCCGCGCCGCTGTCCCGCTCCCGCGCCGCCGCCGCCGTTTCCCCCCGACGACTGGGTGATGCTGGACATGGGAGATAGGAAAGAGGTGAAAATGATCCCCAAGTCCTCGTTCAGCATCAACAGCCTGGTGCCCGAGGCGGTCCAGAACGACAACCACCACGCGAGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACGACAAGGGCCCCCAGCAGCTGCTGCTCCCGCCGCCGCCACCGCCACCACCGGCCGCCGCCCTGGACGGGGCTAAAGCGGACGGGCTGGGCGGCAAGGGCGAGCCGGGCGGCGGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGGGGAGGAGAAGAAGGGGGCGGGCGAGGGCGGCAAGGACGGGGAGGGGGGCAAGGAGGGCGAGAAGAAGAACGGCAAGTACGAGAAGCCGCCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCTGGCCTTCAAGCGCGGTGCGCGCCTCACCTCCACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCACCCCCGCGCCAGCAGCACTTTGAGTTACAACGGCACCACGTCGGCCTACCCCAGCCACCCCATGCCCTACAGCTCCGTGTTGACTCAGAACTCGCTGGGCAACAACCACTCCTTCTCCACCGCCAACGGCCTGAGCGTGGACCGGCTGGTCAACGGGGAGATCCCGTACGCCACGCACCACCTCACGGCCGCCGCGCTAGCCGCCTCGGTGCCCTGCGGCCTGTGGGTGCCCTGCTCTGGGACCTACTCCCTCAACCCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTTTTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCCATGAGCGCCAGGGCCGCGTCCTCCTCCACGTCGCCGCAGGCCCCCTCGACCCTGCCCTGTGAGTCTTTAAGACCCTCTTTGCCAAGTTTTACGACGGGACTGTCTGGGGGACTGTCTGATTATTTCACACATCAAAATCAGGGGTCTTCTTCCAACCCTTTAATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACACACATTTGCATTGTAAATGATAATTAAAAAAATAAGTCCAGGTATTTTTTATTAAGCCCCCCCCTCCCATTTCTGTACGTTTGTTCAGTCTCTAGGGTTGTTTATTATTCTAACAAGGTGTGGAGTGTCAGCGAGGTGCAATGTGGGGAGAATACATTGTAGAATATAAGGTTTGGAAGTCAAATTATAGTAGAATGTGTATCTAAATAGTGACTGCTTTGCCATTTCATTCAAACCTGACAAGTCTATCTCTAAGAGCCGCCAGATTTCCATGTGTGCAGTATTATAAGTTATCATGGAACTATATGGTGGACGCAGACCTTGAGAACAACCTAAATTATGGGGAGAATTTTAAAATGTTAAACTGTAATTTGTATTTAAAAAGCATTCGTAGTAAAGGTGCCCAAGAAATTATTTTGGCCATTTATTGTTTTGTCCTTTTCTTTAAAGAACTGTTTTTTTTTCTTTTGTTTACTTTTAGACCAAAGATTGGGTTCTAGAAAATGCACTTGGTATACTAAGTATTAAAACAAACAAAAAGGAAAGTTGTTTCAGTTGGCAACACTGCCCATTCAATTGAATCAGAAGGGGACAAAATTAACGATTGCCTTCAGTTTGTGTTGTGTATATTTTGATGTATGTGGTCACTAACAGGTCACTTTTATTTTTTCTAAATGTAGTGAAATGTTAATACCTATTGTACTTATAGGTAAACCTTGCAAATATGTAACCTGTGTTGCGCAAATGCCGCATAAATTTGAGTGATTGTTAATGTTGTCTTAAAATTTCTTGATTGTGATACTGTGGTCATATGCCCGTGTTTGTCACTTACAAAAATGTTTACTATGAACACACAGAAATAAAAAATAGGCTAAATTCATATATATCTTGATACTTTTGTCTCTTTTATTAAGTAGAGCTAATTTTTTAAAGACCAATCAACTTATAGGGAATTCAAAGGCTTTTTCAGCCAAACTAAAATTTAAACTGCTCCTTTAATTTGAACTGACTCTAAAAATGAAAATAGTATTTTTCCCTTTGTGAACAAATTTTACAAGGAGCAGCCTATTTAATAAACACTAGCTTTAAACAAAGTATAGGCTTTTCAGCTGATACCTGTAAGTTTCTGTGGATATACAGCAAAAAGAGATATAATTTAATTTTCTGTGCATAGCTCTTTACCCTGTGTTTATTTCCAAATCCATTAATAGAATGCCATTTATATATTTTGTTTCAGGTATATTGTTAATAGAGCTTGGCAAATTATAAATAAATATATGTATATGGTTAGATAGAAGTGACTATAATGCACACATATGTAATATATATAGACACACAGAGCCCTTCAGTTCAGGTACAATTTGCGCTATGAATGCTGCAAACATTTTTGTTTAAATATTTGTATTTATACTTTCTAAGTCAGCATTTATTTTTGTGGCTGTTTACCCACAATGAAAGAGTTCTAATAAAGATGTGCTGAAGTTGCAATATAGATTTTGCTGAAGTGATCACCTGTTTAATGACTTGCAGATCAATGTTTATATTTTATTTTAAAATTATAACAATTTAGAATTCTAGATATTCAGAAGTAAAATGCCTCTTTTTTTAATTTTTACAATGTAGAGGTATTTATTTGATTCCCTTTTAAATGTCTGTGTAATTCAATCTAGAGATTTGTTCCTTTTGTTTAGTCATAATTTTAACTTTCCATATGCATAT
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Task1_train_19673
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This mutation occurs in PRKD1 (protein kinase D1) on Chromosome 14. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Congenital heart defects and ectodermal dysplasia
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ATTTAGAACGCAAAAGAATTGGGGCATTAAAAGCTATACGTATCAACACCCTGTTTTTTTCATAAAATATATGTTTTAGAAACAGAATATTGAGTTACTTAGTATAGAAAATATTTGTATCACCACCAAATTAACTCCCCTTTAGAAAGTATAATTTTAAAGTCCTGATAAGATAATGTATGTTATAGGGGAAAGAATTAAAGTCTTGGCTCTGTCACTTATTAGCTCTGTGATCTTGAGCAAATCACTCACTCTTTCTGAATTTTAGGTTCCTCATCTACAATGAGGAGAAGATTGGATGAAAGGAGGCATGTAAAGTATACAAAATACCCTGGTAACTATGCACACTCAAAAATGGTTAGTTATCATCATCATCACCATATAATAGGCCCTTTATGTATATTACACCTCATTTAACTACTATAACAAACTTTTCAGGAATTCTACGGAGCACCCCCAAGTTCTTAACTTCTACACTACTATATTGTGGTAGGTACAAAAATGTAGCAGTGTTAATTGAATCTGAAAATAATAAATGAAAATGAATCAGAAAATAGAAATGGAAAATGGATCTAATTACTCAAACTTTTTGGTAACATACAAACTAACTTGAAATTCCAGTCTTCCAACACTTGTAAAGCTAGTGTTCACTCACCTTATATCCCACTCTCACTATTCCTTCTCTTTCCAGACTGCTTCCCTTCACTATCAAATCAGCTTGTGTTCATGTTCTCTACTTCCTTAACATCATTTCTTACTGTTTGATTGACTGCAGTCTCTATTTCAACTTAGCCATTTTCCTGCAAGTACTTTTTTCAAGGCCATGACTTCTTTCATCTCTACTCCTCCGTCACTGTAGTACTTGACCTCTCTTCTGAGACTCTTCTCATCTACTTTACTCCATTTGTGTCTAATCTTAACGTTTCAGTCTTCCAGGTGGCAGCCTCCTCCTATTCCTGGTCTTCAGTGTTGGATGTTCCAAATTATCTGGCATCTGCTGGTCTCTCTACTCTCATTTGTCACCCTTGTCTCACCCCTATACGATGTGCATTATGTATATTTACCATGATCTATCTACCATAATTTTTTTTTGCATGCAACTATTATACTGTAGAGCAGTAATCAAACATTTGGTCCCCTCTATTATACCGTTACGCATTAACAAACGGTACAATGGTTAGTGGCTCATGATAGGTTTCTCATCAAAGAAATCACTGGAGCATTTTATAAGACTCAACATTACATTGTGAAATAGAGTAGAACTTAATTACTTTTTAAATTAAAAAGTACAATATCATATAGTGATAAATAAAATTGAATGGGACATTGTGATTATTTCAGAACACTAAACCTCACCATAAGAAATAATTTCTTATTGATAATATTAAGGAACTGAAAGTTATGAGTTCATTTTACAGGGCAGGTAAAGCATTAATATTAAATATTTTTTAAAGACTTGAAAAATACCCTTTAACTGGCTGGAATCTAAAATAGCAGAAGTTAGAATAATAAACTTACCAAAGAGCTTGACAATAAGAAAATAGGTAAAGACTTGATATTTCACCTCAAAAATTAAAAAAAAATTCAAACCTTCAGGAAACAAATATATTGTTAAAGACACTGGAAAGTTAAATTTTGTTTTGTCTAATAACATGAATGGACTTCTGATCAAGTACGCCAAAAGAAAATGGAATTAATTTGTTTACAAATCACAACTTCCTTGTTTTCTCAATATTTTGTCTGATATTCCAAACTTCTTCAGTACTGTGTGTACAGTTTGCCTATATTAAAGAAAAAATGTTTTTCAGGAATATGAAACCTTCTCTTTCAAAACACACATATCCCAATTTTCCAAGTAGTAACTATCTCAAAAAAATTTTTTAAACGCAGAACACAAAAAGATACACACACAGAAATATATACACATAGGTCTTCTCTTCTATGTTTTTCCTGTAAATATCGCTTTTTAAAATATAACTAGCAAAAATTTTAAGTTCATAAAAATACTCAGTGAGATAACCTACCTCCATAAACAATTCCAAACTGTCCAGAACCCAGTACTTCATCAGGAAAAATCTGATATACTGTGCTGATGTCCTAGAGGTACAAGCCCAATGAAAAAAAAACATGAAGCAGAACAAAACATTAGTCCTAAAAATTAATATAATTCTATTAAATATATTATAAACTAAGTATTTTAAAAATAAATTATAAATGCTAGATGAAATCTGAGATGACTGTAATATTCAAAGCACACTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCACACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTGGAACTTCTGACCTAGTGATCCGCCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCACACTCGGCCTCAAAGCACACTCTTTAATTAATGTAATAACGTAATGTTACGAAAACTGTTCTGATCTTAAGTGGCAGAGGTTTTCTAACGTGCTAGCACATATGTTTCATTAGAAAGAAATATGACTAAAAACCATACAATGTGATTTACTATAAGTATTGAAAAAGATATTTGCCTGTTGAGATGGCTATTTGGAAATGTCATTAAATAATCACGGTTCCCAACCACATGTCTGTGTGAATCCTGATTCCAACCACTTCTCCCTGTATGGCTAGAATGAAAAGGTTGCTCCCTTATTAGTCACCCACATGCAGATGAACCCAAAGTGACAGAAGAGGAGGCTGAATCACTGTGAGTGAGCTGGAGAGGCTGCAGAAGGATGGCAACCTATATGAAATTCTCATCTGTGAAGTAGCTAAACTCGTCCAATTTCATCACTTCGGGAGCTAACAAGTTCCAAAAGTCTAATTCTTTCTCTTTGAAATAATAAGTGCTGAATAAAGCATCTTTTAAATCTATGTTTTATTGTCTGTGATTTCATTCTGATGAAATCACCAGGTAATTCTTTTTTCCCTTATATATTCCTATTACATCCTATCAGATTTTCCAACTATCTTCTACCCTTATACTCTGACTTTATTTTTTTAAACTCCTTCTGCATGTTCTGCACATGTACCCCAGAAGTTAAAGTATAATAAAAAGAAGCCCTTTAATATCAAATCCCACCCTCTCCATATCCTATAAACCCTTATCTTTTTCCTTTGTTCTTCCCCCTAGAAAATAACTACAAGTTGTATCCATCCTGTGATTCTTCAAAGTCCCCACAGGATGAGTTCAACGCTGTCTAGGGACAAGACAAGTAATATTAATACTATTCTATTATTCTGATTTCAAGCTACTTCATCTGTTAAGAGAAGTGTTCTTTAGGCTTTCCGATAACTCAATGGCCGATCCAAAATCTTCAGTGGACAACAGTGGCTGAATAGAGTGGAACAATTCCACAGCTATCAGGAATTTCCCAAGAGGCTTATAGAGTAACTTGTATTTCCTGAAATGTCTCTGGCTAAACAAAGGCAATAGGAATCTGCAGAAAAGAAATTTCTTTAGGAATTTATCTCATGATTGACAGCACAAGAATTTATCTAACCTTCACTATGAAGTTTAACTAGTTCTCTCAAATTCATATTTGGCTGTTTACTTTATGCCACTTTAATGTAGTTTTCAGAAATATAATAAGGATGAATAGAGTTTCATGAAGTTAATTTTCTTAAACAAATTTTTAGAAAGTGTAAGCTGTAAACTGCATTCTTTTGGCCATAGATACAGCAGGTAAAATAGACAAAAGGGTCTGGGTCACAGGAGGAGGTAGAAAAGGCCTTATTACTTTTTGGCTACTTGCCATAGGGATAAAATATAACAAATAAAGCAAACATTTGACGGACTGTAAAATATTTCATAATATGTCTGATCTACAATTTTCAAAAACTGAGCTGCAAGGATGGAGTTACGTGGCGCAGATGACTAGGGTGCTAAAATGAGAACCCGTAAGATT
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ATTTAGAACGCAAAAGAATTGGGGCATTAAAAGCTATACGTATCAACACCCTGTTTTTTTCATAAAATATATGTTTTAGAAACAGAATATTGAGTTACTTAGTATAGAAAATATTTGTATCACCACCAAATTAACTCCCCTTTAGAAAGTATAATTTTAAAGTCCTGATAAGATAATGTATGTTATAGGGGAAAGAATTAAAGTCTTGGCTCTGTCACTTATTAGCTCTGTGATCTTGAGCAAATCACTCACTCTTTCTGAATTTTAGGTTCCTCATCTACAATGAGGAGAAGATTGGATGAAAGGAGGCATGTAAAGTATACAAAATACCCTGGTAACTATGCACACTCAAAAATGGTTAGTTATCATCATCATCACCATATAATAGGCCCTTTATGTATATTACACCTCATTTAACTACTATAACAAACTTTTCAGGAATTCTACGGAGCACCCCCAAGTTCTTAACTTCTACACTACTATATTGTGGTAGGTACAAAAATGTAGCAGTGTTAATTGAATCTGAAAATAATAAATGAAAATGAATCAGAAAATAGAAATGGAAAATGGATCTAATTACTCAAACTTTTTGGTAACATACAAACTAACTTGAAATTCCAGTCTTCCAACACTTGTAAAGCTAGTGTTCACTCACCTTATATCCCACTCTCACTATTCCTTCTCTTTCCAGACTGCTTCCCTTCACTATCAAATCAGCTTGTGTTCATGTTCTCTACTTCCTTAACATCATTTCTTACTGTTTGATTGACTGCAGTCTCTATTTCAACTTAGCCATTTTCCTGCAAGTACTTTTTTCAAGGCCATGACTTCTTTCATCTCTACTCCTCCGTCACTGTAGTACTTGACCTCTCTTCTGAGACTCTTCTCATCTACTTTACTCCATTTGTGTCTAATCTTAACGTTTCAGTCTTCCAGGTGGCAGCCTCCTCCTATTCCTGGTCTTCAGTGTTGGATGTTCCAAATTATCTGGCATCTGCTGGTCTCTCTACTCTCATTTGTCACCCTTGTCTCACCCCTATACGATGTGCATTATGTATATTTACCATGATCTATCTACCATAATTTTTTTTTGCATGCAACTATTATACTGTAGAGCAGTAATCAAACATTTGGTCCCCTCTATTATACCGTTACGCATTAACAAACGGTACAATGGTTAGTGGCTCATGATAGGTTTCTCATCAAAGAAATCACTGGAGCATTTTATAAGACTCAACATTACATTGTGAAATAGAGTAGAACTTAATTACTTTTTAAATTAAAAAGTACAATATCATATAGTGATAAATAAAATTGAATGGGACATTGTGATTATTTCAGAACACTAAACCTCACCATAAGAAATAATTTCTTATTGATAATATTAAGGAACTGAAAGTTATGAGTTCATTTTACAGGGCAGGTAAAGCATTAATATTAAATATTTTTTAAAGACTTGAAAAATACCCTTTAACTGGCTGGAATCTAAAATAGCAGAAGTTAGAATAATAAACTTACCAAAGAGCTTGACAATAAGAAAATAGGTAAAGACTTGATATTTCACCTCAAAAATTAAAAAAAAATTCAAACCTTCAGGAAACAAATATATTGTTAAAGACACTGGAAAGTTAAATTTTGTTTTGTCTAATAACATGAATGGACTTCTGATCAAGTACGCCAAAAGAAAATGGAATTAATTTGTTTACAAATCACAACTTCCTTGTTTTCTCAATATTTTGTCTGATATTCCAAACTTCTTCAGTACTGTGTGTACAGTTTGCCTATATTAAAGAAAAAATGTTTTTCAGGAATATGAAACCTTCTCTTTCAAAACACACATATCCCAATTTTCCAAGTAGTAACTATCTCAAAAAAATTTTTTAAACGCAGAACACAAAAAGATACACACACAGAAATATATACACATAGGTCTTCTCTTCTATGTTTTTCCTGTAAATATCGCTTTTTAAAATATAACTAGCAAAAATTTTAAGTTCATAAAAATACTCAGTGAGATAACCTACCTCCATAAACAATTCCAAACTGTCTAGAACCCAGTACTTCATCAGGAAAAATCTGATATACTGTGCTGATGTCCTAGAGGTACAAGCCCAATGAAAAAAAAACATGAAGCAGAACAAAACATTAGTCCTAAAAATTAATATAATTCTATTAAATATATTATAAACTAAGTATTTTAAAAATAAATTATAAATGCTAGATGAAATCTGAGATGACTGTAATATTCAAAGCACACTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCACACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTGGAACTTCTGACCTAGTGATCCGCCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCACACTCGGCCTCAAAGCACACTCTTTAATTAATGTAATAACGTAATGTTACGAAAACTGTTCTGATCTTAAGTGGCAGAGGTTTTCTAACGTGCTAGCACATATGTTTCATTAGAAAGAAATATGACTAAAAACCATACAATGTGATTTACTATAAGTATTGAAAAAGATATTTGCCTGTTGAGATGGCTATTTGGAAATGTCATTAAATAATCACGGTTCCCAACCACATGTCTGTGTGAATCCTGATTCCAACCACTTCTCCCTGTATGGCTAGAATGAAAAGGTTGCTCCCTTATTAGTCACCCACATGCAGATGAACCCAAAGTGACAGAAGAGGAGGCTGAATCACTGTGAGTGAGCTGGAGAGGCTGCAGAAGGATGGCAACCTATATGAAATTCTCATCTGTGAAGTAGCTAAACTCGTCCAATTTCATCACTTCGGGAGCTAACAAGTTCCAAAAGTCTAATTCTTTCTCTTTGAAATAATAAGTGCTGAATAAAGCATCTTTTAAATCTATGTTTTATTGTCTGTGATTTCATTCTGATGAAATCACCAGGTAATTCTTTTTTCCCTTATATATTCCTATTACATCCTATCAGATTTTCCAACTATCTTCTACCCTTATACTCTGACTTTATTTTTTTAAACTCCTTCTGCATGTTCTGCACATGTACCCCAGAAGTTAAAGTATAATAAAAAGAAGCCCTTTAATATCAAATCCCACCCTCTCCATATCCTATAAACCCTTATCTTTTTCCTTTGTTCTTCCCCCTAGAAAATAACTACAAGTTGTATCCATCCTGTGATTCTTCAAAGTCCCCACAGGATGAGTTCAACGCTGTCTAGGGACAAGACAAGTAATATTAATACTATTCTATTATTCTGATTTCAAGCTACTTCATCTGTTAAGAGAAGTGTTCTTTAGGCTTTCCGATAACTCAATGGCCGATCCAAAATCTTCAGTGGACAACAGTGGCTGAATAGAGTGGAACAATTCCACAGCTATCAGGAATTTCCCAAGAGGCTTATAGAGTAACTTGTATTTCCTGAAATGTCTCTGGCTAAACAAAGGCAATAGGAATCTGCAGAAAAGAAATTTCTTTAGGAATTTATCTCATGATTGACAGCACAAGAATTTATCTAACCTTCACTATGAAGTTTAACTAGTTCTCTCAAATTCATATTTGGCTGTTTACTTTATGCCACTTTAATGTAGTTTTCAGAAATATAATAAGGATGAATAGAGTTTCATGAAGTTAATTTTCTTAAACAAATTTTTAGAAAGTGTAAGCTGTAAACTGCATTCTTTTGGCCATAGATACAGCAGGTAAAATAGACAAAAGGGTCTGGGTCACAGGAGGAGGTAGAAAAGGCCTTATTACTTTTTGGCTACTTGCCATAGGGATAAAATATAACAAATAAAGCAAACATTTGACGGACTGTAAAATATTTCATAATATGTCTGATCTACAATTTTCAAAAACTGAGCTGCAAGGATGGAGTTACGTGGCGCAGATGACTAGGGTGCTAAAATGAGAACCCGTAAGATT
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Task1_train_19674
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This variant affects gene PRKD1 (protein kinase D1) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
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Pathogenic; Congenital heart defects and ectodermal dysplasia
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ATATGTGCAGGTTTATTACATAGGTAAACTTGTGTCATGGGGGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAAGCCTGGTACCCATTAGTTATTTTTCCTGATCCTCCCACCCTCCAACCTTGAAGGGACCCCGTATGTGTTATTCCCCACTATGTGACCATGTGTTCTCATCATTTACCTCCCACTTATAAGTGAGAACATGTGGTATTTGCTTTTCTGTTCCTGTGTTAGTTTGCTAAAGATAATGGCCTCCAGATCCTTCCATGATTTTCAATTTCCTTTTTTATTTCAGTTTATATGCATCTGAGTTTATGAGAGGTTGAACATGTAATTTTATAGGTAGATGCTCGTTTTCCGTTTTCCCAAGCCTGAAAACATGAAAAGTCATGAAAAACCTTGGAAGGAAGCCAAAGCTGGGATAGAAGTAAAATGCTAGAAGGCAAAGTGATACCAGGCCCAAGTGACTGGGAAGCTGCTCATATTTTAGAAGCACAGCCCTGGTGGGAAAAAAAAGTATGTAAGAGGATGACAGAAATTTTCACATGAAAAAAGATTCAAGCCACTGATTCTTACTATTGGAGTAACTTTGAAAATCACGAATTCCAATATATTAAATTGGTCACATAGCTGCAGCTTTTAAATAAGACATTTGATATTTGAAGTAATATTGAACCTGTCATTATACAGTTGATGGTAATGGCAAAAATTAAAATTACTTACTAATGCAAAGTACTCATTTTAAAATGAAAATACAGATTAATGAGAGACTCTAGCCTGCCAAGCTTGGAAAATTCACATTTTACCAGATTTTTCTGAATGTATAAGAAAATAGAATTTCAAAGTAATCAACAACATCAAAAACTGTTCTGTATCCCCTTAGTTATAGTTATCCAGTACACACTGACATTCCCTGAGCCTGAACAAAGTCAACACCACATGCCACAGAAAGTGGGACGATCGCCAAGCTTTCAATTTTGGCAGCTAATTCATGAATCTCCAAGCCAGAAACAAGTGTGACAATGTTTTCCTGGAGAGCTCTTCCTTCTTCTTCTTTTAGGTACAGTATATATTTCTTCTAGAGAAGAAAGTTCTAGAGCAAAGATAGTCATTCTTCAGCTTCTTAGCAACAAAAATATTCAACTGAAAGTATCTGTGATCTTTTACAGCCATTTTCCTTTCCAGAGGAATTGGAAAACTGGTATCAGGCTAAAGGTATAAAGACCACTATCTGCAGAAAAAGCTAACCTGGGATTCTAAGTCAAATATTTTGGTAGTGATCCATTAGAATGCTACCCAAGAAGAAAATGTAAGCTCTTTGCTTAAGATATGGCATTTTTCTTAGCAGTCCTTCGAAGTTAATTTATACAGTTAGAGTTTTCTTGAAGGAATATTGCCAAATACAGAAAATACATCTATTTTTTTTTGGCTGACAAAGTTCCTTTTATTATTAAAGATGATTGAAATGAGAAGGACAGAGGAAAAGAGACTGAGAGCTATAACTTGTAGGCAGCCCAACAACATCCACATTTCTGGGCAAACTAGGATAAGAATATAAGATAATAAAACTGGGAAATAAATTATGGCTACCCAAGTTTTCAATACTAGCTGCTCACCATGTAAAGATCATGAAAGGGTCTTTGACTGTTATCAAAACTCCATGGATGCTTTTCTATTGTAAAGTAGAACAAACACTGGCCATAATTTACTTTAGACTGTGTCTGAAATATCTGAACCAAAACCAAAACCAAAAACCCTGACTAAAATTACATCACCACACTCTCTAATATGGAAGAAGCACAGACATGACAGCTGATCTTTTACCTACCTCCATTAATGGTCACTTCGCCAAGGCAGTTGTTTGGTACTTTCGGTGCACAACGTTTATGGCAGTTGAATCTGCAATCTAATCCCAGTGATTTTCAAACAAAACAAAATGAGAATTTGTCATAAAGAAAAGTGGTAACCAGAAAATACTTATGTCAGATGAATGAGGGTGATCAAAGTTCGACAGGTGACAAAATCATCCTTACCTTTGCACTGCAAGCCCTGCCTGAAAAGCCCCTTCAGAAGCTTCTTGCAGTACTGGCACACTGTGGGCCGGGTGTAGGAGTGGATGACAAATGTGTGCGGCACTTTAACTTTAGACATCAAAATCTTGTCAAGGTGAATTGGTCGTCCAATGTATGATTGAGAATTTGACCTCTTCTCTCGACCAATAAACGACTCTGATGGTGATTTTTGCTACATTTTGGAAAACAATAAAGGAAGCAAGATGTAAGAGGCTATTTGATTTATATATTTATATATTTTAAGATACCGGTTTACTCTTGTATTTAGTACTTTGATGTTTAATAATATGAAATCATACTGTATTTCTGTTAATTAATATAATTTACTTGCCTTCCCCATTTCTATTTGAGTTACCTTGCTTGTATAATCTTAAAAAAAAAAGAGAATTGGAGATCAGAATGTTTAAACATGATTTCTAGGTCTTTCAAATAAGTTTTTGCTTTAAAAAAGTGGTTTTAATACAGAAATATAAAGTTGGAGTCAAATAAACAGTGCAAATATTATATCATTGACATTTTTTACAGGATTACATTCACATGGTTAGAAAATGCAAGCATTTATGAAAGACAGAAAATGAAAAGTAAATGCCTCCTGTTTGCCCTACATGGTACTTCATCGAAAAAATGCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGGTGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCTCGCCTGTAATCCCAGCTACTCGGTATGCTGAAGCAGGAGAATTGCTTGAACCTGGGAGACAGAGGTTGTGGTGAGCCAATATCGTGCCACTGCACTACAGCCTGGGTAACAAGAGTGAAACTCCATCTCAAAAAAAATAAATAAATAAATAATAAAAGAAAAAGAAAAAGAAAGAAAGAAAGAAAAAAATGCCTTACAGTTCCTTTGGATTACCTAAAGAAAAAAATAAATATGATTTTACATTTTTCCTCAGCCATACAATAAAAGATTTGTATTACTGGAAACAGAACGAATATACTATAAGAGGAATATAAAAGTGGATGTTTTGGATGTAATTTTATCTCTGTGTACTCTTGCCCATCATTTTAGAATTATTTAATCAGCCCAGTATATAGATTTTTAAAAATTAAATTAACTAAAATTAACCATGTTTTCTATGTTTTTGGATAATTTCACAGTACCTTTGATATCCTGGGATATATTTGAGAATCGTCAGAATAAATGTATTTTAGAATCATCAGAATAAGATAAACTGAATTACTTTTGAACCGTTGTTATAATTATGTATCTCATTTATATATCTTAGTTATTAAGTTCCTACTCTAGAGCAATAACTGTATTAGGTGCCTTAAAAGACAGGCCTTATTACCTACAGTTGAGGCATCTAAGCTCATAAAGTTTAAATACATACCCCTGGGTCAAATGCTAGTAAATAGTGCAGCCAAAATGTGAACCTACATTTGTTTGCCTCCAGAGCCCTTGTTTTATCACCATACTCAGTTAATTTCTAATTTTAAATGATTACTGATAAGACAGCAATAAATCACATTTACAAAAAATTTCTATCCTTTTCAATCCCTATCTGTACCAAAAGGTTAAATACTATTACCAAAAGTGAAAACTATTATTTCCAGATTCACTAGCTACAGTAAAAAGAAACTTAAAATGAAGTTCTACACAGGAATATTAGGCCTACAGTTACATTCACAATTACAATTCCATAAAGAAAAACTGTAAAGCATAATTATTCTGGAAAGGTTCAACTCTTGCAGATAAGTCTAGGGAGATTATAAAAATAGCCAAAGGTTTGCCAAACCAGAATCATGAATATATTGAATAAATACTTTCAATGGAATTAAAGAATAATTAAATCCACAGGGTAAACTCCCTGTTCCAGTGTCCTCTAGTAACTGTAGCCAATGGGCCTGTTTTAAGCATAGACTAAAATGAAAATATTTTTCCATAGTTGAAAACTTTTAACA
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ATATGTGCAGGTTTATTACATAGGTAAACTTGTGTCATGGGGGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAAGCCTGGTACCCATTAGTTATTTTTCCTGATCCTCCCACCCTCCAACCTTGAAGGGACCCCGTATGTGTTATTCCCCACTATGTGACCATGTGTTCTCATCATTTACCTCCCACTTATAAGTGAGAACATGTGGTATTTGCTTTTCTGTTCCTGTGTTAGTTTGCTAAAGATAATGGCCTCCAGATCCTTCCATGATTTTCAATTTCCTTTTTTATTTCAGTTTATATGCATCTGAGTTTATGAGAGGTTGAACATGTAATTTTATAGGTAGATGCTCGTTTTCCGTTTTCCCAAGCCTGAAAACATGAAAAGTCATGAAAAACCTTGGAAGGAAGCCAAAGCTGGGATAGAAGTAAAATGCTAGAAGGCAAAGTGATACCAGGCCCAAGTGACTGGGAAGCTGCTCATATTTTAGAAGCACAGCCCTGGTGGGAAAAAAAAGTATGTAAGAGGATGACAGAAATTTTCACATGAAAAAAGATTCAAGCCACTGATTCTTACTATTGGAGTAACTTTGAAAATCACGAATTCCAATATATTAAATTGGTCACATAGCTGCAGCTTTTAAATAAGACATTTGATATTTGAAGTAATATTGAACCTGTCATTATACAGTTGATGGTAATGGCAAAAATTAAAATTACTTACTAATGCAAAGTACTCATTTTAAAATGAAAATACAGATTAATGAGAGACTCTAGCCTGCCAAGCTTGGAAAATTCACATTTTACCAGATTTTTCTGAATGTATAAGAAAATAGAATTTCAAAGTAATCAACAACATCAAAAACTGTTCTGTATCCCCTTAGTTATAGTTATCCAGTACACACTGACATTCCCTGAGCCTGAACAAAGTCAACACCACATGCCACAGAAAGTGGGACGATCGCCAAGCTTTCAATTTTGGCAGCTAATTCATGAATCTCCAAGCCAGAAACAAGTGTGACAATGTTTTCCTGGAGAGCTCTTCCTTCTTCTTCTTTTAGGTACAGTATATATTTCTTCTAGAGAAGAAAGTTCTAGAGCAAAGATAGTCATTCTTCAGCTTCTTAGCAACAAAAATATTCAACTGAAAGTATCTGTGATCTTTTACAGCCATTTTCCTTTCCAGAGGAATTGGAAAACTGGTATCAGGCTAAAGGTATAAAGACCACTATCTGCAGAAAAAGCTAACCTGGGATTCTAAGTCAAATATTTTGGTAGTGATCCATTAGAATGCTACCCAAGAAGAAAATGTAAGCTCTTTGCTTAAGATATGGCATTTTTCTTAGCAGTCCTTCGAAGTTAATTTATACAGTTAGAGTTTTCTTGAAGGAATATTGCCAAATACAGAAAATACATCTATTTTTTTTTGGCTGACAAAGTTCCTTTTATTATTAAAGATGATTGAAATGAGAAGGACAGAGGAAAAGAGACTGAGAGCTATAACTTGTAGGCAGCCCAACAACATCCACATTTCTGGGCAAACTAGGATAAGAATATAAGATAATAAAACTGGGAAATAAATTATGGCTACCCAAGTTTTCAATACTAGCTGCTCACCATGTAAAGATCATGAAAGGGTCTTTGACTGTTATCAAAACTCCATGGATGCTTTTCTATTGTAAAGTAGAACAAACACTGGCCATAATTTACTTTAGACTGTGTCTGAAATATCTGAACCAAAACCAAAACCAAAAACCCTGACTAAAATTACATCACCACACTCTCTAATATGGAAGAAGCACAGACATGACAGCTGATCTTTTACCTACCTCCATTAATGGTCACTTCGCCAAGGCAGTTGTTTGGTACTTTCGGTGCACAACGTTTATGGCAGTTGAATCTGCAATCTAATCCCAGTGATTTTCAAACAAAACAAAATGAGAATTTGTCATAAAGAAAAGTGGTAACCAGAAAATACTTATGTCAGATGAATGAGGGTGATCAAAGTTCGACAGGTGACAAAATCATCCTTACCTTTGCACTGCCAGCCCTGCCTGAAAAGCCCCTTCAGAAGCTTCTTGCAGTACTGGCACACTGTGGGCCGGGTGTAGGAGTGGATGACAAATGTGTGCGGCACTTTAACTTTAGACATCAAAATCTTGTCAAGGTGAATTGGTCGTCCAATGTATGATTGAGAATTTGACCTCTTCTCTCGACCAATAAACGACTCTGATGGTGATTTTTGCTACATTTTGGAAAACAATAAAGGAAGCAAGATGTAAGAGGCTATTTGATTTATATATTTATATATTTTAAGATACCGGTTTACTCTTGTATTTAGTACTTTGATGTTTAATAATATGAAATCATACTGTATTTCTGTTAATTAATATAATTTACTTGCCTTCCCCATTTCTATTTGAGTTACCTTGCTTGTATAATCTTAAAAAAAAAAGAGAATTGGAGATCAGAATGTTTAAACATGATTTCTAGGTCTTTCAAATAAGTTTTTGCTTTAAAAAAGTGGTTTTAATACAGAAATATAAAGTTGGAGTCAAATAAACAGTGCAAATATTATATCATTGACATTTTTTACAGGATTACATTCACATGGTTAGAAAATGCAAGCATTTATGAAAGACAGAAAATGAAAAGTAAATGCCTCCTGTTTGCCCTACATGGTACTTCATCGAAAAAATGCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGGTGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCTCGCCTGTAATCCCAGCTACTCGGTATGCTGAAGCAGGAGAATTGCTTGAACCTGGGAGACAGAGGTTGTGGTGAGCCAATATCGTGCCACTGCACTACAGCCTGGGTAACAAGAGTGAAACTCCATCTCAAAAAAAATAAATAAATAAATAATAAAAGAAAAAGAAAAAGAAAGAAAGAAAGAAAAAAATGCCTTACAGTTCCTTTGGATTACCTAAAGAAAAAAATAAATATGATTTTACATTTTTCCTCAGCCATACAATAAAAGATTTGTATTACTGGAAACAGAACGAATATACTATAAGAGGAATATAAAAGTGGATGTTTTGGATGTAATTTTATCTCTGTGTACTCTTGCCCATCATTTTAGAATTATTTAATCAGCCCAGTATATAGATTTTTAAAAATTAAATTAACTAAAATTAACCATGTTTTCTATGTTTTTGGATAATTTCACAGTACCTTTGATATCCTGGGATATATTTGAGAATCGTCAGAATAAATGTATTTTAGAATCATCAGAATAAGATAAACTGAATTACTTTTGAACCGTTGTTATAATTATGTATCTCATTTATATATCTTAGTTATTAAGTTCCTACTCTAGAGCAATAACTGTATTAGGTGCCTTAAAAGACAGGCCTTATTACCTACAGTTGAGGCATCTAAGCTCATAAAGTTTAAATACATACCCCTGGGTCAAATGCTAGTAAATAGTGCAGCCAAAATGTGAACCTACATTTGTTTGCCTCCAGAGCCCTTGTTTTATCACCATACTCAGTTAATTTCTAATTTTAAATGATTACTGATAAGACAGCAATAAATCACATTTACAAAAAATTTCTATCCTTTTCAATCCCTATCTGTACCAAAAGGTTAAATACTATTACCAAAAGTGAAAACTATTATTTCCAGATTCACTAGCTACAGTAAAAAGAAACTTAAAATGAAGTTCTACACAGGAATATTAGGCCTACAGTTACATTCACAATTACAATTCCATAAAGAAAAACTGTAAAGCATAATTATTCTGGAAAGGTTCAACTCTTGCAGATAAGTCTAGGGAGATTATAAAAATAGCCAAAGGTTTGCCAAACCAGAATCATGAATATATTGAATAAATACTTTCAATGGAATTAAAGAATAATTAAATCCACAGGGTAAACTCCCTGTTCCAGTGTCCTCTAGTAACTGTAGCCAATGGGCCTGTTTTAAGCATAGACTAAAATGAAAATATTTTTCCATAGTTGAAAACTTTTAACA
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Task1_train_19675
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This sequence change occurs on Chromosome 14, altering COCH, LOC100506071 (cochlin| uncharacterized LOC100506071). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Nonsyndromic genetic hearing loss
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GTAACCCCTATAATCAGAAGCACTCGCGGTCTCACTCTACACGCTAGAGAGTTTAAAAAGTTTGTACCACGTGTAGAGGTCCGGGTATGGGTGTGTGGTTTGGTGTATTTTCCAGTGTAAAAGGCAACGCTTTCCTAAGAGCTACCGTTTGTTTTCCTTGAAAGTAGGAATGAGGGTTAAGTATCCCTCATGGCTGTATTTCTCCCGCTCTACTTAACAAAAGTCAGTGTTCGCAACTAAAGGCGGTCGGTCTTGGCACCGGATTCCGATGCCGCCCCCATCTCAGCGGAAAATGGGAGGAAGGATTAAGGCTGTTTGATGATAGGTATGAGGCTGTTTAGGGGTAAGGATTTTAACCTCTCAGCTCTCTAGACTGCTTCAGAGCTAAGAAATGGGCATTGCGCCTGCATCCTTCCTTCTCTTCCATGGAATGTAAGGTACCTGTCACCACAAAGGGCACAGAGGAGGGTGCTTGTCACAGGCAAGGTACTCAGTTGGACAGTATGGCCAGAAAGTATTCCTCTGCCTTGGAAAAAAAAGGTTTTTAAAATTAATATATGTTTTAAAAAGGTTTGGATAACTACAACTTCCCATGTTTGAAAAATAGCATTTAATAACATTAATCTCAATTTAGTATCGACAGTAAATTCACAAATTAACATGTTGTATTATGTTATCTTGTTACTTGTTGCCAAGAGCTTGTCTCTTCCTAGCATCATTTATAGTAAAAACTGATTCTTTGTTAGGTTGACAGTGTAAAACTTGAGAATATTAACAGTGCTTTCTAAAAATGCATCCGCTGCTTGATAAATCTCACTGGACAGATCTGGAGCAGAAATAATCAGGTTCAATTAAGATAAAAATGCTGTATTCTGAAGGGATTCACTTTTCTGTTTTCTGTCCTTCGGGAGTTGTAGAATGTTGTTTGGGCAAATTAACCCCACGGCTTTAATTTTCTCATCTATAAAATGAACAATCAAGTTAGATAACTTTCTGTGAATCTAAGCATCTTTTTGTTGGCTTCCTTAATGTGTGAGTTTAAGGATCTGCATTTGTAGGCTAACTAGGATAAATGGTCCTATGAAGGAAAGGATGGCTTTGATTTGTGCACATGTCTATGAAAATGTTCCACAAAGGCTCAATCCAGATTTACTATCTTTACCTCAAGCAACTGTGTACATAGCGTCATCAAAGTTGAGATTTAAAAATTTTTTTTTTTCTTCTGGAGACAAGATCTTATTCTGTAACCCAGGATGGAGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCA
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GTAACCCCTATAATCAGAAGCACTCGCGGTCTCACTCTACACGCTAGAGAGTTTAAAAAGTTTGTACCACGTGTAGAGGTCCGGGTATGGGTGTGTGGTTTGGTGTATTTTCCAGTGTAAAAGGCAACGCTTTCCTAAGAGCTACCGTTTGTTTTCCTTGAAAGTAGGAATGAGGGTTAAGTATCCCTCATGGCTGTATTTCTCCCGCTCTACTTAACAAAAGTCAGTGTTCGCAACTAAAGGCGGTCGGTCTTGGCACCGGATTCCGATGCCGCCCCCATCTCAGCGGAAAATGGGAGGAAGGATTAAGGCTGTTTGATGATAGGTATGAGGCTGTTTAGGGGTAAGGATTTTAACCTCTCAGCTCTCTAGACTGCTTCAGAGCTAAGAAATGGGCATTGCGCCTGCATCCTTCCTTCTCTTCCATGGAATGTAAGGTACCTGTCACCACAAAGGGCACAGAGGAGGGTGCTTGTCACAGGCAAGGTACTCAGTTGGACAGTATGGCCAGAAAGTATTCCTCTGCCTTGGAAAAAAAAGGTTTTTAAAATTAATATATGTTTTAAAAAGGTTTGGATAACTACAACTTCCCATGTTTGAAAAATAGCATTTAATAACATTAATCTCAATTTAGTATCGACAGTAAATTCACAAATTAACATGTTGTATTATGTTATCTTGTTACTTGTTGCCAAGAGCTTGTCTCTTCCTAGCATCATTTATAGTAAAAACTGATTCTTTGTTAGGTTGACAGTGTAAAACTTGAGAATATTAACAGTGCTTTCTAAAAATGCATCCGCTGCTTGATAAATCTCACTGGACAGATCTGGAGCAGAAATAATCAGGTTCAATTAAGATAAAAATGCTGTATTCTGAAGGGATTCACTTTTCTGTTTTCTGTCCTTCGGGAGTTGTAGAATGTTGTTTGGGCAAATTAACCCCACGGCTTTAATTTTCTCATCTATAAAATGAACAATCAAGTTAGATAACTTTCTGTGAATCTAAGCATCTTTTTGTTGGCTTCCTTAATGTGTGAGTTTAAGGATCTGCATTTGTAGGCTAACTAGGATAAATGGTCCTATGAAGGAAAGGATGGCTTTGATTTGTGCACATGTCTATGAAAATGTTCCACAAAGGCTCAATCCAGATTTACTATCTTTACCTCAAGCAACTGTGTACATAGCGTCATCAAAGTTGAGATTTAAAAATTTTTTTTTTTCTTCTGGAGACAAGATCTTATTCTGTAACCCAGGATGGAGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCTCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCA
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Task1_train_19676
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Consider a variant on Chromosome 14 in gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071). Determine its clinical classification and disease relevance.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 9
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GAGAGTTTAAAAAGTTTGTACCACGTGTAGAGGTCCGGGTATGGGTGTGTGGTTTGGTGTATTTTCCAGTGTAAAAGGCAACGCTTTCCTAAGAGCTACCGTTTGTTTTCCTTGAAAGTAGGAATGAGGGTTAAGTATCCCTCATGGCTGTATTTCTCCCGCTCTACTTAACAAAAGTCAGTGTTCGCAACTAAAGGCGGTCGGTCTTGGCACCGGATTCCGATGCCGCCCCCATCTCAGCGGAAAATGGGAGGAAGGATTAAGGCTGTTTGATGATAGGTATGAGGCTGTTTAGGGGTAAGGATTTTAACCTCTCAGCTCTCTAGACTGCTTCAGAGCTAAGAAATGGGCATTGCGCCTGCATCCTTCCTTCTCTTCCATGGAATGTAAGGTACCTGTCACCACAAAGGGCACAGAGGAGGGTGCTTGTCACAGGCAAGGTACTCAGTTGGACAGTATGGCCAGAAAGTATTCCTCTGCCTTGGAAAAAAAAGGTTTTTAAAATTAATATATGTTTTAAAAAGGTTTGGATAACTACAACTTCCCATGTTTGAAAAATAGCATTTAATAACATTAATCTCAATTTAGTATCGACAGTAAATTCACAAATTAACATGTTGTATTATGTTATCTTGTTACTTGTTGCCAAGAGCTTGTCTCTTCCTAGCATCATTTATAGTAAAAACTGATTCTTTGTTAGGTTGACAGTGTAAAACTTGAGAATATTAACAGTGCTTTCTAAAAATGCATCCGCTGCTTGATAAATCTCACTGGACAGATCTGGAGCAGAAATAATCAGGTTCAATTAAGATAAAAATGCTGTATTCTGAAGGGATTCACTTTTCTGTTTTCTGTCCTTCGGGAGTTGTAGAATGTTGTTTGGGCAAATTAACCCCACGGCTTTAATTTTCTCATCTATAAAATGAACAATCAAGTTAGATAACTTTCTGTGAATCTAAGCATCTTTTTGTTGGCTTCCTTAATGTGTGAGTTTAAGGATCTGCATTTGTAGGCTAACTAGGATAAATGGTCCTATGAAGGAAAGGATGGCTTTGATTTGTGCACATGTCTATGAAAATGTTCCACAAAGGCTCAATCCAGATTTACTATCTTTACCTCAAGCAACTGTGTACATAGCGTCATCAAAGTTGAGATTTAAAAATTTTTTTTTTTCTTCTGGAGACAAGATCTTATTCTGTAACCCAGGATGGAGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCAGGCTGGAGTACAGTGGTGCAATCATAGCTCACTGCAGCCTTAACCT
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GAGAGTTTAAAAAGTTTGTACCACGTGTAGAGGTCCGGGTATGGGTGTGTGGTTTGGTGTATTTTCCAGTGTAAAAGGCAACGCTTTCCTAAGAGCTACCGTTTGTTTTCCTTGAAAGTAGGAATGAGGGTTAAGTATCCCTCATGGCTGTATTTCTCCCGCTCTACTTAACAAAAGTCAGTGTTCGCAACTAAAGGCGGTCGGTCTTGGCACCGGATTCCGATGCCGCCCCCATCTCAGCGGAAAATGGGAGGAAGGATTAAGGCTGTTTGATGATAGGTATGAGGCTGTTTAGGGGTAAGGATTTTAACCTCTCAGCTCTCTAGACTGCTTCAGAGCTAAGAAATGGGCATTGCGCCTGCATCCTTCCTTCTCTTCCATGGAATGTAAGGTACCTGTCACCACAAAGGGCACAGAGGAGGGTGCTTGTCACAGGCAAGGTACTCAGTTGGACAGTATGGCCAGAAAGTATTCCTCTGCCTTGGAAAAAAAAGGTTTTTAAAATTAATATATGTTTTAAAAAGGTTTGGATAACTACAACTTCCCATGTTTGAAAAATAGCATTTAATAACATTAATCTCAATTTAGTATCGACAGTAAATTCACAAATTAACATGTTGTATTATGTTATCTTGTTACTTGTTGCCAAGAGCTTGTCTCTTCCTAGCATCATTTATAGTAAAAACTGATTCTTTGTTAGGTTGACAGTGTAAAACTTGAGAATATTAACAGTGCTTTCTAAAAATGCATCCGCTGCTTGATAAATCTCACTGGACAGATCTGGAGCAGAAATAATCAGGTTCAATTAAGATAAAAATGCTGTATTCTGAAGGGATTCACTTTTCTGTTTTCTGTCCTTCGGGAGTTGTAGAATGTTGTTTGGGCAAATTAACCCCACGGCTTTAATTTTCTCATCTATAAAATGAACAATCAAGTTAGATAACTTTCTGTGAATCTAAGCATCTTTTTGTTGGCTTCCTTAATGTGTGAGTTTAAGGATCTGCATTTGTAGGCTAACTAGGATAAATGGTCCTATGAAGGAAAGGATGGCTTTGATTTGTGCACATGTCTATGAAAATGTTCCACAAAGGCTCAATCCAGATTTACTATCTTTACCTCAAGCAACTGTGTACATAGCGTCATCAAAGTTGAGATTTAAAAATTTTTTTTTTTCTTCTGGAGACAAGATCTTATTCTGTAACCCAGGATGGAGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGGATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCAGGCTGGAGTACAGTGGTGCAATCATAGCTCACTGCAGCCTTAACCT
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Task1_train_19677
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Mutation context: Chromosome 14, Gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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TTGAGATTTAAAAATTTTTTTTTTTCTTCTGGAGACAAGATCTTATTCTGTAACCCAGGATGGAGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCAGGCTGGAGTACAGTGGTGCAATCATAGCTCACTGCAGCCTTAACCTCCTAGGCTCAAGCAATCTTCTCACCTTGGCCTCCTGAGTAGGTGGTACTACAGGCACATGCCACCACACCCAGCCAATTTTTTTGATTTTTAATTTTTTTTATTTTTATTTTTTTAGACAGGTCTAGCTATGATGCCCAGGCTGGTTTTGAACTCCTGACCTCAGGCAGTCCTCCCACTTCAGCCTCCCAAAGTTCAGGGATTACAGGCATGAGCCACTGCACCCAGCCTAATAATTCTCTAAAAGTCCTATTTTCTCCCAGATTTGATAAACCACGCCTAAGAACTGGTCAAAGTACCATGAACTTCTAGTTCCATTTGCTTCATTAAATTCCTTTAATTACTGCACTGTCATGTGACTAAAAGGAATGTGTGTCTATTGTAAGAAATAGCCAGGGATCCCCTTTTGTATGACGATGGCAGTTTTAAAGTCAAAGATATTAAGAACATTAGGATTTAATGTTGAGTTCCTGCCTCACCTGTGGGTTTGGGGTATTAAAGTCCTGGATTAGGGCATATCAAATATGTAGGCCTACATACTGATTTGTTTATTTGTTGGGTCATTGCTTTCCCTAGTCCAGAAAATCCTGAGGAAATTAATTTTTTTAAAAAAGTCCTTTCAAGAATGGCACTCTGTTGTTATGAGCTTCTCCCCATGTGGGTTTCTTGCTATGTAACTGTCTTCCTTTTGTTAATGCCAAGTGCATCTTTTATTTCAGGTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGCAATAAAGGTAAGAATCAAGATCTCCATTTGGGAAGGTAGCATTTTCCCTCCCTCCTCTTGAGACTGCTAATGAGGGGACTGGTTTGGTTGTTCGCAGATTGTAAAGCAGACATTGCATTTCTGATTGATGGAAGCTTTAATATTGGGCAGCGCCGATTTAATTTACAGAAGAATTTTGTTGGAAAAGTGGCTCTAATGTTGGGAATTGGAACAGAAGGACCACATGTGGGCCTTGTTCAAGCCAGGTACCAACCTTGTTAAAATGGGAGATTTAAAAAAAAAATTATTTTGTAATTGACACATAATAATTATATATACTTATGGGGTACATAGTGATGTTTTCATACATACAATGTATAGTGGTCAAATCAGAGTAATTAGCATATCCATCA
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TTGAGATTTAAAAATTTTTTTTTTTCTTCTGGAGACAAGATCTTATTCTGTAACCCAGGATGGAGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGAACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCAGGCTGGAGTACAGTGGTGCAATCATAGCTCACTGCAGCCTTAACCTCCTAGGCTCAAGCAATCTTCTCACCTTGGCCTCCTGAGTAGGTGGTACTACAGGCACATGCCACCACACCCAGCCAATTTTTTTGATTTTTAATTTTTTTTATTTTTATTTTTTTAGACAGGTCTAGCTATGATGCCCAGGCTGGTTTTGAACTCCTGACCTCAGGCAGTCCTCCCACTTCAGCCTCCCAAAGTTCAGGGATTACAGGCATGAGCCACTGCACCCAGCCTAATAATTCTCTAAAAGTCCTATTTTCTCCCAGATTTGATAAACCACGCCTAAGAACTGGTCAAAGTACCATGAACTTCTAGTTCCATTTGCTTCATTAAATTCCTTTAATTACTGCACTGTCATGTGACTAAAAGGAATGTGTGTCTATTGTAAGAAATAGCCAGGGATCCCCTTTTGTATGACGATGGCAGTTTTAAAGTCAAAGATATTAAGAACATTAGGATTTAATGTTGAGTTCCTGCCTCACCTGTGGGTTTGGGGTATTAAAGTCCTGGATTAGGGCATATCAAATATGTAGGCCTACATACTGATTTGTTTATTTGTTGGGTCATTGCTTTCCCTAGTCCAGAAAATCCTGAGGAAATTAATTTTTTTAAAAAAGTCCTTTCAAGAATGGCACTCTGTTGTTATGAGCTTCTCCCCATGTGGGTTTCTTGCTATGTAACTGTCTTCCTTTTGTTAATGCCAAGTGCATCTTTTATTTCAGGTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGCAATAAAGGTAAGAATCAAGATCTCCATTTGGGAAGGTAGCATTTTCCCTCCCTCCTCTTGAGACTGCTAATGAGGGGACTGGTTTGGTTGTTCGCAGATTGTAAAGCAGACATTGCATTTCTGATTGATGGAAGCTTTAATATTGGGCAGCGCCGATTTAATTTACAGAAGAATTTTGTTGGAAAAGTGGCTCTAATGTTGGGAATTGGAACAGAAGGACCACATGTGGGCCTTGTTCAAGCCAGGTACCAACCTTGTTAAAATGGGAGATTTAAAAAAAAAATTATTTTGTAATTGACACATAATAATTATATATACTTATGGGGTACATAGTGATGTTTTCATACATACAATGTATAGTGGTCAAATCAGAGTAATTAGCATATCCATCA
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Task1_train_19678
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This alteration in COCH, LOC100506071 (cochlin| uncharacterized LOC100506071) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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AGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCAGGCTGGAGTACAGTGGTGCAATCATAGCTCACTGCAGCCTTAACCTCCTAGGCTCAAGCAATCTTCTCACCTTGGCCTCCTGAGTAGGTGGTACTACAGGCACATGCCACCACACCCAGCCAATTTTTTTGATTTTTAATTTTTTTTATTTTTATTTTTTTAGACAGGTCTAGCTATGATGCCCAGGCTGGTTTTGAACTCCTGACCTCAGGCAGTCCTCCCACTTCAGCCTCCCAAAGTTCAGGGATTACAGGCATGAGCCACTGCACCCAGCCTAATAATTCTCTAAAAGTCCTATTTTCTCCCAGATTTGATAAACCACGCCTAAGAACTGGTCAAAGTACCATGAACTTCTAGTTCCATTTGCTTCATTAAATTCCTTTAATTACTGCACTGTCATGTGACTAAAAGGAATGTGTGTCTATTGTAAGAAATAGCCAGGGATCCCCTTTTGTATGACGATGGCAGTTTTAAAGTCAAAGATATTAAGAACATTAGGATTTAATGTTGAGTTCCTGCCTCACCTGTGGGTTTGGGGTATTAAAGTCCTGGATTAGGGCATATCAAATATGTAGGCCTACATACTGATTTGTTTATTTGTTGGGTCATTGCTTTCCCTAGTCCAGAAAATCCTGAGGAAATTAATTTTTTTAAAAAAGTCCTTTCAAGAATGGCACTCTGTTGTTATGAGCTTCTCCCCATGTGGGTTTCTTGCTATGTAACTGTCTTCCTTTTGTTAATGCCAAGTGCATCTTTTATTTCAGGTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGCAATAAAGGTAAGAATCAAGATCTCCATTTGGGAAGGTAGCATTTTCCCTCCCTCCTCTTGAGACTGCTAATGAGGGGACTGGTTTGGTTGTTCGCAGATTGTAAAGCAGACATTGCATTTCTGATTGATGGAAGCTTTAATATTGGGCAGCGCCGATTTAATTTACAGAAGAATTTTGTTGGAAAAGTGGCTCTAATGTTGGGAATTGGAACAGAAGGACCACATGTGGGCCTTGTTCAAGCCAGGTACCAACCTTGTTAAAATGGGAGATTTAAAAAAAAAATTATTTTGTAATTGACACATAATAATTATATATACTTATGGGGTACATAGTGATGTTTTCATACATACAATGTATAGTGGTCAAATCAGAGTAATTAGCATATCCATCACCTCAAACATTGATCATTTCTTTGTGTTGGATACATTCAAAATCAAATGAGGCCGGGTGCAGT
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AGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCAACCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCAGGCTGGAGTACAGTGGTGCAATCATAGCTCACTGCAGCCTTAACCTCCTAGGCTCAAGCAATCTTCTCACCTTGGCCTCCTGAGTAGGTGGTACTACAGGCACATGCCACCACACCCAGCCAATTTTTTTGATTTTTAATTTTTTTTATTTTTATTTTTTTAGACAGGTCTAGCTATGATGCCCAGGCTGGTTTTGAACTCCTGACCTCAGGCAGTCCTCCCACTTCAGCCTCCCAAAGTTCAGGGATTACAGGCATGAGCCACTGCACCCAGCCTAATAATTCTCTAAAAGTCCTATTTTCTCCCAGATTTGATAAACCACGCCTAAGAACTGGTCAAAGTACCATGAACTTCTAGTTCCATTTGCTTCATTAAATTCCTTTAATTACTGCACTGTCATGTGACTAAAAGGAATGTGTGTCTATTGTAAGAAATAGCCAGGGATCCCCTTTTGTATGACGATGGCAGTTTTAAAGTCAAAGATATTAAGAACATTAGGATTTAATGTTGAGTTCCTGCCTCACCTGTGGGTTTGGGGTATTAAAGTCCTGGATTAGGGCATATCAAATATGTAGGCCTACATACTGATTTGTTTATTTGTTGGGTCATTGCTTTCCCTAGTCCAGAAAATCCTGAGGAAATTAATTTTTTTAAAAAAGTCCTTTCAAGAATGGCACTCTGTTGTTATGAGCTTCTCCCCATGTGGGTTTCTTGCTATGTAACTGTCTTCCTTTTGTTAATGCCAAGTGCATCTTTTATTTCAGGTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGCAATAAAGGTAAGAATCAAGATCTCCATTTGGGAAGGTAGCATTTTCCCTCCCTCCTCTTGAGACTGCTAATGAGGGGACTGGTTTGGTTGTTCGCAGATTGTAAAGCAGACATTGCATTTCTGATTGATGGAAGCTTTAATATTGGGCAGCGCCGATTTAATTTACAGAAGAATTTTGTTGGAAAAGTGGCTCTAATGTTGGGAATTGGAACAGAAGGACCACATGTGGGCCTTGTTCAAGCCAGGTACCAACCTTGTTAAAATGGGAGATTTAAAAAAAAAATTATTTTGTAATTGACACATAATAATTATATATACTTATGGGGTACATAGTGATGTTTTCATACATACAATGTATAGTGGTCAAATCAGAGTAATTAGCATATCCATCACCTCAAACATTGATCATTTCTTTGTGTTGGATACATTCAAAATCAAATGAGGCCGGGTGCAGT
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Task1_train_19679
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A mutation in COCH, LOC100506071 (cochlin| uncharacterized LOC100506071), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 9
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TCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCAGGCTGGAGTACAGTGGTGCAATCATAGCTCACTGCAGCCTTAACCTCCTAGGCTCAAGCAATCTTCTCACCTTGGCCTCCTGAGTAGGTGGTACTACAGGCACATGCCACCACACCCAGCCAATTTTTTTGATTTTTAATTTTTTTTATTTTTATTTTTTTAGACAGGTCTAGCTATGATGCCCAGGCTGGTTTTGAACTCCTGACCTCAGGCAGTCCTCCCACTTCAGCCTCCCAAAGTTCAGGGATTACAGGCATGAGCCACTGCACCCAGCCTAATAATTCTCTAAAAGTCCTATTTTCTCCCAGATTTGATAAACCACGCCTAAGAACTGGTCAAAGTACCATGAACTTCTAGTTCCATTTGCTTCATTAAATTCCTTTAATTACTGCACTGTCATGTGACTAAAAGGAATGTGTGTCTATTGTAAGAAATAGCCAGGGATCCCCTTTTGTATGACGATGGCAGTTTTAAAGTCAAAGATATTAAGAACATTAGGATTTAATGTTGAGTTCCTGCCTCACCTGTGGGTTTGGGGTATTAAAGTCCTGGATTAGGGCATATCAAATATGTAGGCCTACATACTGATTTGTTTATTTGTTGGGTCATTGCTTTCCCTAGTCCAGAAAATCCTGAGGAAATTAATTTTTTTAAAAAAGTCCTTTCAAGAATGGCACTCTGTTGTTATGAGCTTCTCCCCATGTGGGTTTCTTGCTATGTAACTGTCTTCCTTTTGTTAATGCCAAGTGCATCTTTTATTTCAGGTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGCAATAAAGGTAAGAATCAAGATCTCCATTTGGGAAGGTAGCATTTTCCCTCCCTCCTCTTGAGACTGCTAATGAGGGGACTGGTTTGGTTGTTCGCAGATTGTAAAGCAGACATTGCATTTCTGATTGATGGAAGCTTTAATATTGGGCAGCGCCGATTTAATTTACAGAAGAATTTTGTTGGAAAAGTGGCTCTAATGTTGGGAATTGGAACAGAAGGACCACATGTGGGCCTTGTTCAAGCCAGGTACCAACCTTGTTAAAATGGGAGATTTAAAAAAAAAATTATTTTGTAATTGACACATAATAATTATATATACTTATGGGGTACATAGTGATGTTTTCATACATACAATGTATAGTGGTCAAATCAGAGTAATTAGCATATCCATCACCTCAAACATTGATCATTTCTTTGTGTTGGATACATTCAAAATCAAATGAGGCCGGGTGCAGTGGCTCACGCCTGTAA
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TCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCCTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCAGGCTGGAGTACAGTGGTGCAATCATAGCTCACTGCAGCCTTAACCTCCTAGGCTCAAGCAATCTTCTCACCTTGGCCTCCTGAGTAGGTGGTACTACAGGCACATGCCACCACACCCAGCCAATTTTTTTGATTTTTAATTTTTTTTATTTTTATTTTTTTAGACAGGTCTAGCTATGATGCCCAGGCTGGTTTTGAACTCCTGACCTCAGGCAGTCCTCCCACTTCAGCCTCCCAAAGTTCAGGGATTACAGGCATGAGCCACTGCACCCAGCCTAATAATTCTCTAAAAGTCCTATTTTCTCCCAGATTTGATAAACCACGCCTAAGAACTGGTCAAAGTACCATGAACTTCTAGTTCCATTTGCTTCATTAAATTCCTTTAATTACTGCACTGTCATGTGACTAAAAGGAATGTGTGTCTATTGTAAGAAATAGCCAGGGATCCCCTTTTGTATGACGATGGCAGTTTTAAAGTCAAAGATATTAAGAACATTAGGATTTAATGTTGAGTTCCTGCCTCACCTGTGGGTTTGGGGTATTAAAGTCCTGGATTAGGGCATATCAAATATGTAGGCCTACATACTGATTTGTTTATTTGTTGGGTCATTGCTTTCCCTAGTCCAGAAAATCCTGAGGAAATTAATTTTTTTAAAAAAGTCCTTTCAAGAATGGCACTCTGTTGTTATGAGCTTCTCCCCATGTGGGTTTCTTGCTATGTAACTGTCTTCCTTTTGTTAATGCCAAGTGCATCTTTTATTTCAGGTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGCAATAAAGGTAAGAATCAAGATCTCCATTTGGGAAGGTAGCATTTTCCCTCCCTCCTCTTGAGACTGCTAATGAGGGGACTGGTTTGGTTGTTCGCAGATTGTAAAGCAGACATTGCATTTCTGATTGATGGAAGCTTTAATATTGGGCAGCGCCGATTTAATTTACAGAAGAATTTTGTTGGAAAAGTGGCTCTAATGTTGGGAATTGGAACAGAAGGACCACATGTGGGCCTTGTTCAAGCCAGGTACCAACCTTGTTAAAATGGGAGATTTAAAAAAAAAATTATTTTGTAATTGACACATAATAATTATATATACTTATGGGGTACATAGTGATGTTTTCATACATACAATGTATAGTGGTCAAATCAGAGTAATTAGCATATCCATCACCTCAAACATTGATCATTTCTTTGTGTTGGATACATTCAAAATCAAATGAGGCCGGGTGCAGTGGCTCACGCCTGTAA
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Task1_train_19680
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The variant affects gene LOC100506071, COCH (uncharacterized LOC100506071| cochlin), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Hereditary hearing loss and deafness
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CATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCAGGCTGGAGTACAGTGGTGCAATCATAGCTCACTGCAGCCTTAACCTCCTAGGCTCAAGCAATCTTCTCACCTTGGCCTCCTGAGTAGGTGGTACTACAGGCACATGCCACCACACCCAGCCAATTTTTTTGATTTTTAATTTTTTTTATTTTTATTTTTTTAGACAGGTCTAGCTATGATGCCCAGGCTGGTTTTGAACTCCTGACCTCAGGCAGTCCTCCCACTTCAGCCTCCCAAAGTTCAGGGATTACAGGCATGAGCCACTGCACCCAGCCTAATAATTCTCTAAAAGTCCTATTTTCTCCCAGATTTGATAAACCACGCCTAAGAACTGGTCAAAGTACCATGAACTTCTAGTTCCATTTGCTTCATTAAATTCCTTTAATTACTGCACTGTCATGTGACTAAAAGGAATGTGTGTCTATTGTAAGAAATAGCCAGGGATCCCCTTTTGTATGACGATGGCAGTTTTAAAGTCAAAGATATTAAGAACATTAGGATTTAATGTTGAGTTCCTGCCTCACCTGTGGGTTTGGGGTATTAAAGTCCTGGATTAGGGCATATCAAATATGTAGGCCTACATACTGATTTGTTTATTTGTTGGGTCATTGCTTTCCCTAGTCCAGAAAATCCTGAGGAAATTAATTTTTTTAAAAAAGTCCTTTCAAGAATGGCACTCTGTTGTTATGAGCTTCTCCCCATGTGGGTTTCTTGCTATGTAACTGTCTTCCTTTTGTTAATGCCAAGTGCATCTTTTATTTCAGGTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGCAATAAAGGTAAGAATCAAGATCTCCATTTGGGAAGGTAGCATTTTCCCTCCCTCCTCTTGAGACTGCTAATGAGGGGACTGGTTTGGTTGTTCGCAGATTGTAAAGCAGACATTGCATTTCTGATTGATGGAAGCTTTAATATTGGGCAGCGCCGATTTAATTTACAGAAGAATTTTGTTGGAAAAGTGGCTCTAATGTTGGGAATTGGAACAGAAGGACCACATGTGGGCCTTGTTCAAGCCAGGTACCAACCTTGTTAAAATGGGAGATTTAAAAAAAAAATTATTTTGTAATTGACACATAATAATTATATATACTTATGGGGTACATAGTGATGTTTTCATACATACAATGTATAGTGGTCAAATCAGAGTAATTAGCATATCCATCACCTCAAACATTGATCATTTCTTTGTGTTGGATACATTCAAAATCAAATGAGGCCGGGTGCAGTGGCTCACGCCTGTAATTCCAGCA
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CATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACCTGGTTAAGAACTGAGAAGCCAGGCACAGTGGCACACCTGTAATCCCAGCTACTAGGGAGTTGGAGGTGGATCACTTGAGCTCGGGAATTTGAGCCTAGCTTGGGCAACTTGGCGAGTCCCCATTTCAAAAACAAAAACGAAATAAAAACCCAGAACTTTCACATTAGAGTTTTATAGTGGCTGGGGACTATATTAAATTGGAAAACAACCTTGTGGCTTGCCAAAATCTGGAATGGTATGGAAGGGTATATAAGTCAATAGTCATAACTAGAAGTGTAGAAATTAGGGAAGTAAAACTTAAATCTCACACTGTAGTCTCCCCACCACTATGCCCCAAGAAGTCCTAAGAATGCTTACAATATTATCTCCTTTTTCTTCAGCTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAGGTAAGCCCAAACACACCAGGGTGGGAGAGAAATGCAGACGTGATTATTTCCTTTCCTGCTTTACCCATCTGGATCCCTTTCCTCCCTGCATTCTTTCTTTTGTTGCCATTGTGGCCACAGAAAATGGATATATTTTCACGGTTCTCCTGGATATACTTGAAACACCAAATACACATGGAAAGCTTTCTGACAAAAGGCAAATAGCATTACCTCTTGATGGCTAGATTGCTATGATTCCAAAACATTCCTAATCATGTGATATATTACTGAGTTATTACTATGTGCCACCTATTGTTTTAACTTCCACCACAACTCTACAAGGTAGGTAGAATTTTACTCCAGTTACAGATGAAGAAACTGAACTCAGAGAGTTGTCAAGTATCTTGCCCAAGGTGACTATTGTTAGCAAGTGCCATGCTATCCTGTAGTAGAATAGCCAGTATAATACTTCTAAAAAAATTCAGTCCAAAGGCATGTAGCTAAAGTGAGTATCTTAGGAAAATTGTTTGGTGCTCTGAATTTCTAAGTTGTGGGTAATGGGATATTACAAATGTGTTCTTATCAACACTTAAGAAGTTCAACAGCACAAAACCATTTTTTTCCAGGCAAATTTTGTTCTTGTGTAAGCAAGTTTTTAAAAGGCTAGCAGCAGCTGGGAGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGATGGACCACTTGAGGTCAGGAGTTCGAGACCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCATCCTGGGCTACAGAGCGAGACGCCATCAAATAAATAAATAAATAAAGCAGAATCTTTAGATGACTTCCCTGATGAGCTATTTTCTTGATTAATCAAAGCAATAGATACAACATGGCACTATAAGTCAGTGGGATGCCCTGAAAAAGTGTGGATAGCATCTCAGCTGCTATTCTTGTGTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGACGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATTATTGTTCTCATTCTGTAATATTCTCCCACCCCCCAAACGTTTTCTGCTTTTTTTAGCTCAGCCTCTTTAACCTTGATGGAAAAACCTGTGATCAAGACTAAAGCTGACCTATAGAGGTAAACTGTAGGTTAGACTGAGGGGTCAAGTACCCACTGAAGCCAAATTTGGGTGAATAGAAGACAATCTTACTGACAGATGATGGCAATAGAAACTTGAATTATTTGCAGTCAGAATGCCCGGACACTTACCAAGGAACTGAAAAACTACTAAATACATTTTTGATGATCCTTTGAAGATATAATGGATAAGCATTTTGGTTCTCTGAAACTAGCATGCAGCAGGATGTTTGTAACTACAATCACCATTACCCTATTACATTTGTCATTGTAGAGAGCTCTAAATTAGATTCATAATACTTTGGTAAAGAAGGAAAAGGAAAAAAATAAGCTTATTTTTATTTTAACAGAAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAGGTATGAACTATGAAACCTATCTCCTAGTTGCCCGGCACAGCATTTGGAAGTTATGAATAAACGTGTTGTTGGTAGAAGCTTTTCTTAAAGAAATTTGATATTAAAGAGAAACAAAGCAAATACCTTAAGTTTACTGGTATATTACATATGGAAACATTCATTATGTGTATATTTTAAAGACAGGGTCTCACTCTGTTGCTCAGGCTGGAGTACAGTGGTGCAATCATAGCTCACTGCAGCCTTAACCTCCTAGGCTCAAGCAATCTTCTCACCTTGGCCTCCTGAGTAGGTGGTACTACAGGCACATGCCACCACACCCAGCCAATTTTTTTGATTTTTAATTTTTTTTATTTTTATTTTTTTAGACAGGTCTAGCTATGATGCCCAGGCTGGTTTTGAACTCCTGACCTCAGGCAGTCCTCCCACTTCAGCCTCCCAAAGTTCAGGGATTACAGGCATGAGCCACTGCACCCAGCCTAATAATTCTCTAAAAGTCCTATTTTCTCCCAGATTTGATAAACCACGCCTAAGAACTGGTCAAAGTACCATGAACTTCTAGTTCCATTTGCTTCATTAAATTCCTTTAATTACTGCACTGTCATGTGACTAAAAGGAATGTGTGTCTATTGTAAGAAATAGCCAGGGATCCCCTTTTGTATGACGATGGCAGTTTTAAAGTCAAAGATATTAAGAACATTAGGATTTAATGTTGAGTTCCTGCCTCACCTGTGGGTTTGGGGTATTAAAGTCCTGGATTAGGGCATATCAAATATGTAGGCCTACATACTGATTTGTTTATTTGTTGGGTCATTGCTTTCCCTAGTCCAGAAAATCCTGAGGAAATTAATTTTTTTAAAAAAGTCCTTTCAAGAATGGCACTCTGTTGTTATGAGCTTCTCCCCATGTGGGTTTCTTGCTATGTAACTGTCTTCCTTTTGTTAATGCCAAGTGCATCTTTTATTTCAGGTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGCAATAAAGGTAAGAATCAAGATCTCCATTTGGGAAGGTAGCATTTTCCCTCCCTCCTCTTGAGACTGCTAATGAGGGGACTGGTTTGGTTGTTCGCAGATTGTAAAGCAGACATTGCATTTCTGATTGATGGAAGCTTTAATATTGGGCAGCGCCGATTTAATTTACAGAAGAATTTTGTTGGAAAAGTGGCTCTAATGTTGGGAATTGGAACAGAAGGACCACATGTGGGCCTTGTTCAAGCCAGGTACCAACCTTGTTAAAATGGGAGATTTAAAAAAAAAATTATTTTGTAATTGACACATAATAATTATATATACTTATGGGGTACATAGTGATGTTTTCATACATACAATGTATAGTGGTCAAATCAGAGTAATTAGCATATCCATCACCTCAAACATTGATCATTTCTTTGTGTTGGATACATTCAAAATCAAATGAGGCCGGGTGCAGTGGCTCACGCCTGTAATTCCAGCA
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Task1_train_19681
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Gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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TATAATTCATTTCACCTTTGTCCCTTTAAAAAAATGTTGACGGTCACATCAATGAAATTGTTTCTCCTGAACAGAGAGCTCTGAGTTAATAGATCCACACTACTTAGAGCCTCTGGGGTCCCACACTGGAACAGACCCTAGTCTCATACCCAGCCACTTCCTCATTTAGTTTAGCTACCTGGTGCCCAACTCTGCGGACTTCTGTTAAACCCGAGGCTCTGAGCCAAGCCCGATTTCAAGTTCTCCGTATAGTTTAGGCATGGACTTTGCAGCCAGACAACTTGAACTTAAAATGCAGCTGTGTTTCATCAGGCAAACTCCCTAAATGCTCTGAGACTCAGTTTCTTCATTTACATAATTGGGATAATTCCAACCTTATAGAGCTATGATGAAATGAGGTTTTACATGTGTTATGCTTTTGGCTTATTACCCAGAATATAATAAATCCTCAATATGGCAATTATTTGTTACACCTCTGAAATATCTCCAATAATTCAAGTAAGGATGCAATGCCTCAGTTGACTATGTACTATGGAATTAAGAAAGAAACTTGTGTGTTGTCTGGTTTTAAAACTGTTTTTTAAGGCATGTAATGTTGCTTATTTTACCTTTTTAATTCTCCCTGAATAACATTTTCTTTCTTCCACTCAGTGAACATCCCAAAATAGAATTTTACTTGAAAAACTTTACATCAGCCAAAGATGTTTTGTTTGCCATAAAGGAAGTAGGTTTCAGAGGGGGTAATTCCAATACAGGTAAGTAGACTTTGATACCTGGGATGTAACATAGGAGAGGGTTATCAGTGATCAGACATGTAAAACAGTATTATGCTATTTTATATGAGCAGATGTGAAATCCTCCTGGAACTGAAATCTTGGCTAGGTCTGCATTTGATCATCTGAGATAAATTTTCAATTTATAATGGAAGTATACCAAAGTGTTGATATTTCTTATTTTAAAAAATATAAAGCATGGTGATTTAGAATTCTCATACATTGGATTGACTAGATATAACATTGGAGAAGTATCTCTTTGTAATGCTAAAAAGAAGTGAAAATCAACAGACTTATCTAATGAATGCAGATGTGGCAGAAAGAATGAGTAGCACTACCGTTGACTCTGAAGAGAGACTTCTTAGAGGTACTAATCAGTCACCAAAGGGCTACATAGAGAGCACATGCATGGAAGTGGGAATCAGTTTTGTGTTTCTAACTGGCGATTGATGTGGGGTAAACAAATGTGAGGCTTCTAGGAGGTGGAGGGGGAACTAATATGGCTTGTGAAGATAAATAGGCCTGGTAGATAATTAAACTTTCCCAGCTGATGCATCTGTTACAGAACTGGGTTCTATATAATTCTTTTTTGTGTGCCCCGCCCCACTGCCAGTTCTATATATAATTCTTAAACTTTGCAGCATCAAATGCTACAGGGAAACAGAAATGTGGTTTGAGCAGTGGTAAAGGCTATTTGTTTGCTTCTTTTTCAAATTTAGGAAAAGCCTTGAAGCATACTGCTCAGAAATTCTTCACGGTAGATGCTGGAGTAAGAAAAGGGATCCCCAAAGTGGTGGTGGTATTTATTGATGGTTGGCCTTCTGATGACATCGAGGAAGCAGGCATTGTGGCCAGAGAGTTTGGTGTCAATGTATTTATAGTTTCTGTGGCCAAGCCTATCCCTGAAGAACTGGGGATGGTTCAGGATGTCACATTTGTTGACAAGGTAAAGTGGTGAGGGTTATCTTCTGTTACAGTGATGGGTATTCCATTTTGGACCTCTAAGTGCAGTGCTGACTGCCTCTTATCTAGATTAACTTGAAACATTCAGGATTTTCCAGTTTTTAAGAAGAAACAACTTTTGATCCTTTTGGATATCTTTTATGTGTCTCCCCCATTAGGCTGTCTGTCGGAATAATGGCTTCTTCTCTTACCACATGCCCAACTGGTTTGGCACCACAAAATACGTAAAGCCTCTGGTACAGAAGCTGTGCACTCATGAACAAATGATGTGCAGCAAGACCTGTTATAACTCAGTGAACATTGCCTTTCTAATTGATGGCTCCAGCAGTGTTGGAGATAGCAATTTCCGCCTCATGCTTGAATTTGTTTCCAACATAGCCAAGACTTTTGAAATCTCGGACATTGGTGCCAAGATAGCTGCTGTACAGTTTACTTATGATCAGCGCACGGAGTTCAGTTTCACTGACTATAGCACCAAAGAGAATGTCCTAGCTGTCATCAGAAACATCCGCTATATGAGTGGTGGAACAGCTACTGGTGATGCCATTTCCTTCACTGTTAGAAATGTGTTTGGCCCTATAAGGGAGAGCCCCAACAAGAACTTCCTAGTAATTGTCACAGATGGGCAGTCCTATGATGATGTCCAAGGCCCTGCAGCTGCTGCACATGATGCAGGTAAGGTCCTTGTTCTTTATAGGAGAAGGGAACAGAAAAAACGGTTCAGTGAATTTAGGAGTAAATAAAAATTTAAGCATTTATTTCATTAAACAAACACCTGTGGCTTTACCCAATATTAACTGTTAAAGCAGCCCTACTCATCTCATTCTACAGATAAGGAAGCAAACTTCCTGGAAATGACATTTCTAGTAAGTGGCAAGGCCAAGATCCAAACCCAGGCATTCTGGCTCCAGAGTGCACATTCCTAACCACTGTATTGTTGGGAGAATTGCCATGAGAACCATGTCACATTAAGGAAATATGCTTATACATATACAATTAAGGTGCTCATATTTAGCTCAAACTTGGACTATATCTCCAAATAGCCAGCTTATAACCTACCATGAATCTGCCATTCAGTAATTTATCCTAACTTTCTTGTGTATGAAACAGGTAATTGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGTAGTGAGCTACAACCTCCAACTATTGGGCTCAAGCAATCCTCCTGTGTCAGCCTTCCAAATAGCTAGGACGACAGGCACATGCCACTGCCCCTGGCTAATTTTTAAATTTTTTTGGGGAGAGACGGGGGTCTCACTTTGTTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCAATCCTCACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACACCCAACCCTAACTTTTATTTTAGTCAAGTTTTGTCTGGCATGAGTTTCCTAAGATAAGGTCTCCCATAGACTTTACCTATCCCATCAAAATTTCCTTGGCCAGGTGCAGTGGCTCACATCTGTAATTCAGCACTTTGGGAGGCTGAGGTGGGCGGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCGGGCCAACATGGTAAAACCCAGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTAACATACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAATGAACTGAGATCGTGCCATTGTACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAAAAAAAACTTTTTCCCCCCCGCTTAAGATAATAAAAACACACTCTGGTGTTATAAAAGGGTATAAGAAGGGTTTCTTTCTTCCTCACCCCAGCCTTAATATTACTTTTGGCACAGGCCTCGTTCCTGAAGACATTAACGTAATGTGTTAGAGATCAAATAGGCCAACAAAAAGCTAAGATTCCCTTTCTGAGGATATAACTGAGTGACAGGAGGGAAGAATCAATGGACTTGTTTTTTTTAACACTCTTCTGTACCTCATTTTCCCTACTTAATTCCTAATGACATAACCTTTTTCCTTTCTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAA
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TATAATTCATTTCACCTTTGTCCCTTTAAAAAAATGTTGACGGTCACATCAATGAAATTGTTTCTCCTGAACAGAGAGCTCTGAGTTAATAGATCCACACTACTTAGAGCCTCTGGGGTCCCACACTGGAACAGACCCTAGTCTCATACCCAGCCACTTCCTCATTTAGTTTAGCTACCTGGTGCCCAACTCTGCGGACTTCTGTTAAACCCGAGGCTCTGAGCCAAGCCCGATTTCAAGTTCTCCGTATAGTTTAGGCATGGACTTTGCAGCCAGACAACTTGAACTTAAAATGCAGCTGTGTTTCATCAGGCAAACTCCCTAAATGCTCTGAGACTCAGTTTCTTCATTTACATAATTGGGATAATTCCAACCTTATAGAGCTATGATGAAATGAGGTTTTACATGTGTTATGCTTTTGGCTTATTACCCAGAATATAATAAATCCTCAATATGGCAATTATTTGTTACACCTCTGAAATATCTCCAATAATTCAAGTAAGGATGCAATGCCTCAGTTGACTATGTACTATGGAATTAAGAAAGAAACTTGTGTGTTGTCTGGTTTTAAAACTGTTTTTTAAGGCATGTAATGTTGCTTATTTTACCTTTTTAATTCTCCCTGAATAACATTTTCTTTCTTCCACTCAGTGAACATCCCAAAATAGAATTTTACTTGAAAAACTTTACATCAGCCAAAGATGTTTTGTTTGCCATAAAGGAAGTAGGTTTCAGAGGGGGTAATTCCAATACAGGTAAGTAGACTTTGATACCTGGGATGTAACATAGGAGAGGGTTATCAGTGATCAGACATGTAAAACAGTATTATGCTATTTTATATGAGCAGATGTGAAATCCTCCTGGAACTGAAATCTTGGCTAGGTCTGCATTTGATCATCTGAGATAAATTTTCAATTTATAATGGAAGTATACCAAAGTGTTGATATTTCTTATTTTAAAAAATATAAAGCATGGTGATTTAGAATTCTCATACATTGGATTGACTAGATATAACATTGGAGAAGTATCTCTTTGTAATGCTAAAAAGAAGTGAAAATCAACAGACTTATCTAATGAATGCAGATGTGGCAGAAAGAATGAGTAGCACTACCGTTGACTCTGAAGAGAGACTTCTTAGAGGTACTAATCAGTCACCAAAGGGCTACATAGAGAGCACATGCATGGAAGTGGGAATCAGTTTTGTGTTTCTAACTGGCGATTGATGTGGGGTAAACAAATGTGAGGCTTCTAGGAGGTGGAGGGGGAACTAATATGGCTTGTGAAGATAAATAGGCCTGGTAGATAATTAAACTTTCCCAGCTGATGCATCTGTTACAGAACTGGGTTCTATATAATTCTTTTTTGTGTGCCCCGCCCCACTGCCAGTTCTATATATAATTCTTAAACTTTGCAGCATCAAATGCTACAGGGAAACAGAAATGTGGTTTGAGCAGTGGTAAAGGCTATTTGTTTGCTTCTTTTTCAAATTTAGGAAAAGCCTTGAAGCATACTGCTCAGAAATTCTTCACGGTAGATGCTGGAGTAAGAAAAGGGATCCCCAAAGTGGTGGTGGTATTTATTGATGGTTGGCCTTCTGATGACATCGAGGAAGCAGGCATTGTGGCCAGAGAGTTTGGTGTCAATGTATTTATAGTTTCTGTGGCCAAGCCTATCCCTGAAGAACTGGGGATGGTTCAGGATGTCACATTTGTTGACAAGGTAAAGTGGTGAGGGTTATCTTCTGTTACAGTGATGGGTATTCCATTTTGGACCTCTAAGTGCAGTGCTGACTGCCTCTTATCTAGATTAACTTGAAACATTCAGGATTTTCCAGTTTTTAAGAAGAAACAACTTTTGATCCTTTTGGATATCTTTTATGTGTCTCCCCCATTAGGCTGTCTGTCGGAATAATGGCTTCTTCTCTTACCACATGCCCAACTGGTTTGGCACCACAAAATACGTAAAGCCTCTGGTACAGAAGCTGTGCACTCATGAACAAATGATGTGCAGCAAGACCTGTTATAACTCAGTGAACATTGCCTTTCTAACTGATGGCTCCAGCAGTGTTGGAGATAGCAATTTCCGCCTCATGCTTGAATTTGTTTCCAACATAGCCAAGACTTTTGAAATCTCGGACATTGGTGCCAAGATAGCTGCTGTACAGTTTACTTATGATCAGCGCACGGAGTTCAGTTTCACTGACTATAGCACCAAAGAGAATGTCCTAGCTGTCATCAGAAACATCCGCTATATGAGTGGTGGAACAGCTACTGGTGATGCCATTTCCTTCACTGTTAGAAATGTGTTTGGCCCTATAAGGGAGAGCCCCAACAAGAACTTCCTAGTAATTGTCACAGATGGGCAGTCCTATGATGATGTCCAAGGCCCTGCAGCTGCTGCACATGATGCAGGTAAGGTCCTTGTTCTTTATAGGAGAAGGGAACAGAAAAAACGGTTCAGTGAATTTAGGAGTAAATAAAAATTTAAGCATTTATTTCATTAAACAAACACCTGTGGCTTTACCCAATATTAACTGTTAAAGCAGCCCTACTCATCTCATTCTACAGATAAGGAAGCAAACTTCCTGGAAATGACATTTCTAGTAAGTGGCAAGGCCAAGATCCAAACCCAGGCATTCTGGCTCCAGAGTGCACATTCCTAACCACTGTATTGTTGGGAGAATTGCCATGAGAACCATGTCACATTAAGGAAATATGCTTATACATATACAATTAAGGTGCTCATATTTAGCTCAAACTTGGACTATATCTCCAAATAGCCAGCTTATAACCTACCATGAATCTGCCATTCAGTAATTTATCCTAACTTTCTTGTGTATGAAACAGGTAATTGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGTAGTGAGCTACAACCTCCAACTATTGGGCTCAAGCAATCCTCCTGTGTCAGCCTTCCAAATAGCTAGGACGACAGGCACATGCCACTGCCCCTGGCTAATTTTTAAATTTTTTTGGGGAGAGACGGGGGTCTCACTTTGTTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCAATCCTCACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACACCCAACCCTAACTTTTATTTTAGTCAAGTTTTGTCTGGCATGAGTTTCCTAAGATAAGGTCTCCCATAGACTTTACCTATCCCATCAAAATTTCCTTGGCCAGGTGCAGTGGCTCACATCTGTAATTCAGCACTTTGGGAGGCTGAGGTGGGCGGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCGGGCCAACATGGTAAAACCCAGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTAACATACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAATGAACTGAGATCGTGCCATTGTACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAAAAAAAACTTTTTCCCCCCCGCTTAAGATAATAAAAACACACTCTGGTGTTATAAAAGGGTATAAGAAGGGTTTCTTTCTTCCTCACCCCAGCCTTAATATTACTTTTGGCACAGGCCTCGTTCCTGAAGACATTAACGTAATGTGTTAGAGATCAAATAGGCCAACAAAAAGCTAAGATTCCCTTTCTGAGGATATAACTGAGTGACAGGAGGGAAGAATCAATGGACTTGTTTTTTTTAACACTCTTCTGTACCTCATTTTCCCTACTTAATTCCTAATGACATAACCTTTTTCCTTTCTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAA
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Task1_train_19682
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This variant lies on Chromosome 14 and affects the gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 9
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CACATCAATGAAATTGTTTCTCCTGAACAGAGAGCTCTGAGTTAATAGATCCACACTACTTAGAGCCTCTGGGGTCCCACACTGGAACAGACCCTAGTCTCATACCCAGCCACTTCCTCATTTAGTTTAGCTACCTGGTGCCCAACTCTGCGGACTTCTGTTAAACCCGAGGCTCTGAGCCAAGCCCGATTTCAAGTTCTCCGTATAGTTTAGGCATGGACTTTGCAGCCAGACAACTTGAACTTAAAATGCAGCTGTGTTTCATCAGGCAAACTCCCTAAATGCTCTGAGACTCAGTTTCTTCATTTACATAATTGGGATAATTCCAACCTTATAGAGCTATGATGAAATGAGGTTTTACATGTGTTATGCTTTTGGCTTATTACCCAGAATATAATAAATCCTCAATATGGCAATTATTTGTTACACCTCTGAAATATCTCCAATAATTCAAGTAAGGATGCAATGCCTCAGTTGACTATGTACTATGGAATTAAGAAAGAAACTTGTGTGTTGTCTGGTTTTAAAACTGTTTTTTAAGGCATGTAATGTTGCTTATTTTACCTTTTTAATTCTCCCTGAATAACATTTTCTTTCTTCCACTCAGTGAACATCCCAAAATAGAATTTTACTTGAAAAACTTTACATCAGCCAAAGATGTTTTGTTTGCCATAAAGGAAGTAGGTTTCAGAGGGGGTAATTCCAATACAGGTAAGTAGACTTTGATACCTGGGATGTAACATAGGAGAGGGTTATCAGTGATCAGACATGTAAAACAGTATTATGCTATTTTATATGAGCAGATGTGAAATCCTCCTGGAACTGAAATCTTGGCTAGGTCTGCATTTGATCATCTGAGATAAATTTTCAATTTATAATGGAAGTATACCAAAGTGTTGATATTTCTTATTTTAAAAAATATAAAGCATGGTGATTTAGAATTCTCATACATTGGATTGACTAGATATAACATTGGAGAAGTATCTCTTTGTAATGCTAAAAAGAAGTGAAAATCAACAGACTTATCTAATGAATGCAGATGTGGCAGAAAGAATGAGTAGCACTACCGTTGACTCTGAAGAGAGACTTCTTAGAGGTACTAATCAGTCACCAAAGGGCTACATAGAGAGCACATGCATGGAAGTGGGAATCAGTTTTGTGTTTCTAACTGGCGATTGATGTGGGGTAAACAAATGTGAGGCTTCTAGGAGGTGGAGGGGGAACTAATATGGCTTGTGAAGATAAATAGGCCTGGTAGATAATTAAACTTTCCCAGCTGATGCATCTGTTACAGAACTGGGTTCTATATAATTCTTTTTTGTGTGCCCCGCCCCACTGCCAGTTCTATATATAATTCTTAAACTTTGCAGCATCAAATGCTACAGGGAAACAGAAATGTGGTTTGAGCAGTGGTAAAGGCTATTTGTTTGCTTCTTTTTCAAATTTAGGAAAAGCCTTGAAGCATACTGCTCAGAAATTCTTCACGGTAGATGCTGGAGTAAGAAAAGGGATCCCCAAAGTGGTGGTGGTATTTATTGATGGTTGGCCTTCTGATGACATCGAGGAAGCAGGCATTGTGGCCAGAGAGTTTGGTGTCAATGTATTTATAGTTTCTGTGGCCAAGCCTATCCCTGAAGAACTGGGGATGGTTCAGGATGTCACATTTGTTGACAAGGTAAAGTGGTGAGGGTTATCTTCTGTTACAGTGATGGGTATTCCATTTTGGACCTCTAAGTGCAGTGCTGACTGCCTCTTATCTAGATTAACTTGAAACATTCAGGATTTTCCAGTTTTTAAGAAGAAACAACTTTTGATCCTTTTGGATATCTTTTATGTGTCTCCCCCATTAGGCTGTCTGTCGGAATAATGGCTTCTTCTCTTACCACATGCCCAACTGGTTTGGCACCACAAAATACGTAAAGCCTCTGGTACAGAAGCTGTGCACTCATGAACAAATGATGTGCAGCAAGACCTGTTATAACTCAGTGAACATTGCCTTTCTAATTGATGGCTCCAGCAGTGTTGGAGATAGCAATTTCCGCCTCATGCTTGAATTTGTTTCCAACATAGCCAAGACTTTTGAAATCTCGGACATTGGTGCCAAGATAGCTGCTGTACAGTTTACTTATGATCAGCGCACGGAGTTCAGTTTCACTGACTATAGCACCAAAGAGAATGTCCTAGCTGTCATCAGAAACATCCGCTATATGAGTGGTGGAACAGCTACTGGTGATGCCATTTCCTTCACTGTTAGAAATGTGTTTGGCCCTATAAGGGAGAGCCCCAACAAGAACTTCCTAGTAATTGTCACAGATGGGCAGTCCTATGATGATGTCCAAGGCCCTGCAGCTGCTGCACATGATGCAGGTAAGGTCCTTGTTCTTTATAGGAGAAGGGAACAGAAAAAACGGTTCAGTGAATTTAGGAGTAAATAAAAATTTAAGCATTTATTTCATTAAACAAACACCTGTGGCTTTACCCAATATTAACTGTTAAAGCAGCCCTACTCATCTCATTCTACAGATAAGGAAGCAAACTTCCTGGAAATGACATTTCTAGTAAGTGGCAAGGCCAAGATCCAAACCCAGGCATTCTGGCTCCAGAGTGCACATTCCTAACCACTGTATTGTTGGGAGAATTGCCATGAGAACCATGTCACATTAAGGAAATATGCTTATACATATACAATTAAGGTGCTCATATTTAGCTCAAACTTGGACTATATCTCCAAATAGCCAGCTTATAACCTACCATGAATCTGCCATTCAGTAATTTATCCTAACTTTCTTGTGTATGAAACAGGTAATTGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGTAGTGAGCTACAACCTCCAACTATTGGGCTCAAGCAATCCTCCTGTGTCAGCCTTCCAAATAGCTAGGACGACAGGCACATGCCACTGCCCCTGGCTAATTTTTAAATTTTTTTGGGGAGAGACGGGGGTCTCACTTTGTTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCAATCCTCACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACACCCAACCCTAACTTTTATTTTAGTCAAGTTTTGTCTGGCATGAGTTTCCTAAGATAAGGTCTCCCATAGACTTTACCTATCCCATCAAAATTTCCTTGGCCAGGTGCAGTGGCTCACATCTGTAATTCAGCACTTTGGGAGGCTGAGGTGGGCGGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCGGGCCAACATGGTAAAACCCAGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTAACATACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAATGAACTGAGATCGTGCCATTGTACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAAAAAAAACTTTTTCCCCCCCGCTTAAGATAATAAAAACACACTCTGGTGTTATAAAAGGGTATAAGAAGGGTTTCTTTCTTCCTCACCCCAGCCTTAATATTACTTTTGGCACAGGCCTCGTTCCTGAAGACATTAACGTAATGTGTTAGAGATCAAATAGGCCAACAAAAAGCTAAGATTCCCTTTCTGAGGATATAACTGAGTGACAGGAGGGAAGAATCAATGGACTTGTTTTTTTTAACACTCTTCTGTACCTCATTTTCCCTACTTAATTCCTAATGACATAACCTTTTTCCTTTCTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATA
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CACATCAATGAAATTGTTTCTCCTGAACAGAGAGCTCTGAGTTAATAGATCCACACTACTTAGAGCCTCTGGGGTCCCACACTGGAACAGACCCTAGTCTCATACCCAGCCACTTCCTCATTTAGTTTAGCTACCTGGTGCCCAACTCTGCGGACTTCTGTTAAACCCGAGGCTCTGAGCCAAGCCCGATTTCAAGTTCTCCGTATAGTTTAGGCATGGACTTTGCAGCCAGACAACTTGAACTTAAAATGCAGCTGTGTTTCATCAGGCAAACTCCCTAAATGCTCTGAGACTCAGTTTCTTCATTTACATAATTGGGATAATTCCAACCTTATAGAGCTATGATGAAATGAGGTTTTACATGTGTTATGCTTTTGGCTTATTACCCAGAATATAATAAATCCTCAATATGGCAATTATTTGTTACACCTCTGAAATATCTCCAATAATTCAAGTAAGGATGCAATGCCTCAGTTGACTATGTACTATGGAATTAAGAAAGAAACTTGTGTGTTGTCTGGTTTTAAAACTGTTTTTTAAGGCATGTAATGTTGCTTATTTTACCTTTTTAATTCTCCCTGAATAACATTTTCTTTCTTCCACTCAGTGAACATCCCAAAATAGAATTTTACTTGAAAAACTTTACATCAGCCAAAGATGTTTTGTTTGCCATAAAGGAAGTAGGTTTCAGAGGGGGTAATTCCAATACAGGTAAGTAGACTTTGATACCTGGGATGTAACATAGGAGAGGGTTATCAGTGATCAGACATGTAAAACAGTATTATGCTATTTTATATGAGCAGATGTGAAATCCTCCTGGAACTGAAATCTTGGCTAGGTCTGCATTTGATCATCTGAGATAAATTTTCAATTTATAATGGAAGTATACCAAAGTGTTGATATTTCTTATTTTAAAAAATATAAAGCATGGTGATTTAGAATTCTCATACATTGGATTGACTAGATATAACATTGGAGAAGTATCTCTTTGTAATGCTAAAAAGAAGTGAAAATCAACAGACTTATCTAATGAATGCAGATGTGGCAGAAAGAATGAGTAGCACTACCGTTGACTCTGAAGAGAGACTTCTTAGAGGTACTAATCAGTCACCAAAGGGCTACATAGAGAGCACATGCATGGAAGTGGGAATCAGTTTTGTGTTTCTAACTGGCGATTGATGTGGGGTAAACAAATGTGAGGCTTCTAGGAGGTGGAGGGGGAACTAATATGGCTTGTGAAGATAAATAGGCCTGGTAGATAATTAAACTTTCCCAGCTGATGCATCTGTTACAGAACTGGGTTCTATATAATTCTTTTTTGTGTGCCCCGCCCCACTGCCAGTTCTATATATAATTCTTAAACTTTGCAGCATCAAATGCTACAGGGAAACAGAAATGTGGTTTGAGCAGTGGTAAAGGCTATTTGTTTGCTTCTTTTTCAAATTTAGGAAAAGCCTTGAAGCATACTGCTCAGAAATTCTTCACGGTAGATGCTGGAGTAAGAAAAGGGATCCCCAAAGTGGTGGTGGTATTTATTGATGGTTGGCCTTCTGATGACATCGAGGAAGCAGGCATTGTGGCCAGAGAGTTTGGTGTCAATGTATTTATAGTTTCTGTGGCCAAGCCTATCCCTGAAGAACTGGGGATGGTTCAGGATGTCACATTTGTTGACAAGGTAAAGTGGTGAGGGTTATCTTCTGTTACAGTGATGGGTATTCCATTTTGGACCTCTAAGTGCAGTGCTGACTGCCTCTTATCTAGATTAACTTGAAACATTCAGGATTTTCCAGTTTTTAAGAAGAAACAACTTTTGATCCTTTTGGATATCTTTTATGTGTCTCCCCCATTAGGCTGTCTGTCGGAATAATGGCTTCTTCTCTTACCACATGCCCAACTGGTTTGGCACCACAAAATACGTAAAGCCTCTGGTACAGAAGCTGTGCACTCATGAACAAATGATGTGCAGCAAGACCTGTTATAACTCAGTGAACATTGCCTTTCTAATTGATGGCTCCAGCAGTGTTGGAGATAGCAATTTCCGCCTCATGTTTGAATTTGTTTCCAACATAGCCAAGACTTTTGAAATCTCGGACATTGGTGCCAAGATAGCTGCTGTACAGTTTACTTATGATCAGCGCACGGAGTTCAGTTTCACTGACTATAGCACCAAAGAGAATGTCCTAGCTGTCATCAGAAACATCCGCTATATGAGTGGTGGAACAGCTACTGGTGATGCCATTTCCTTCACTGTTAGAAATGTGTTTGGCCCTATAAGGGAGAGCCCCAACAAGAACTTCCTAGTAATTGTCACAGATGGGCAGTCCTATGATGATGTCCAAGGCCCTGCAGCTGCTGCACATGATGCAGGTAAGGTCCTTGTTCTTTATAGGAGAAGGGAACAGAAAAAACGGTTCAGTGAATTTAGGAGTAAATAAAAATTTAAGCATTTATTTCATTAAACAAACACCTGTGGCTTTACCCAATATTAACTGTTAAAGCAGCCCTACTCATCTCATTCTACAGATAAGGAAGCAAACTTCCTGGAAATGACATTTCTAGTAAGTGGCAAGGCCAAGATCCAAACCCAGGCATTCTGGCTCCAGAGTGCACATTCCTAACCACTGTATTGTTGGGAGAATTGCCATGAGAACCATGTCACATTAAGGAAATATGCTTATACATATACAATTAAGGTGCTCATATTTAGCTCAAACTTGGACTATATCTCCAAATAGCCAGCTTATAACCTACCATGAATCTGCCATTCAGTAATTTATCCTAACTTTCTTGTGTATGAAACAGGTAATTGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGTAGTGAGCTACAACCTCCAACTATTGGGCTCAAGCAATCCTCCTGTGTCAGCCTTCCAAATAGCTAGGACGACAGGCACATGCCACTGCCCCTGGCTAATTTTTAAATTTTTTTGGGGAGAGACGGGGGTCTCACTTTGTTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCAATCCTCACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACACCCAACCCTAACTTTTATTTTAGTCAAGTTTTGTCTGGCATGAGTTTCCTAAGATAAGGTCTCCCATAGACTTTACCTATCCCATCAAAATTTCCTTGGCCAGGTGCAGTGGCTCACATCTGTAATTCAGCACTTTGGGAGGCTGAGGTGGGCGGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCGGGCCAACATGGTAAAACCCAGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTAACATACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAATGAACTGAGATCGTGCCATTGTACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAAAAAAAACTTTTTCCCCCCCGCTTAAGATAATAAAAACACACTCTGGTGTTATAAAAGGGTATAAGAAGGGTTTCTTTCTTCCTCACCCCAGCCTTAATATTACTTTTGGCACAGGCCTCGTTCCTGAAGACATTAACGTAATGTGTTAGAGATCAAATAGGCCAACAAAAAGCTAAGATTCCCTTTCTGAGGATATAACTGAGTGACAGGAGGGAAGAATCAATGGACTTGTTTTTTTTAACACTCTTCTGTACCTCATTTTCCCTACTTAATTCCTAATGACATAACCTTTTTCCTTTCTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATA
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Task1_train_19683
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Here is a genetic alteration in LOC100506071, COCH (uncharacterized LOC100506071| cochlin) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 9
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AGGGAAGAATCAATGGACTTGTTTTTTTTAACACTCTTCTGTACCTCATTTTCCCTACTTAATTCCTAATGACATAACCTTTTTCCTTTCTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATAGGGTAGGATTTTAGGGGTAGATCACAACAGTTTTTATTTATTTTCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGTGATTATTTTTTTTTTTAACTGTAATTATATGCTGGGCTTGAGCTAAACAATCTGAACTAGAATGTAGAACTGAAAAGAAGTGAGGAAAACTGAGGGGGAGGAAAAAAATATTTTGACTTTTTTTTTTTTTAACCAGGGAGTGAGAGTCAGGAAAAGGAGACTGGAACAATTGGACATTGTTCCAAGTAGCTTTTACATCATCTAAACCTGCTGCATATCTTAGGTATTTACCACTCTGAGCACTGTATACCACTAGAAGGGGAATGAAACCTTAGATCTGTAGAGGAAAACTATTACAGAAACTCCAAAAGTTATAGAAAATTGCACCCAGCATTAGATAGATGGTACTCTACACTAAGAATCTGCTAAATGAGGCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCGCTTGAGCCCTGGAGTTCGAGATGAGACCAGCCTGAACAACATGGTGAAACCCCATCTCTACAAAGAAATTTAAAAATTAGCTGGGCTTAGTGGCATGCGCTTGTAGTCCCAGCTATTTGAGGATGGGGGTGCTGAGGAGGATAGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCTTGATTGTACCACTGCACTCCAGCATGGGCAAAAGAGCCAGACCCTGTCTGAGAAAAAAAAAAAAAAAAGATTAAATGAAAACTTCTACAATTGGGATTGGGGTGAATCCAACTAATGTATTATTACCCTAAATGTACAGTTGTACTAAAAGCCTTCTAGTAACTAAAGTGAATGGAAATAGAATACCTCAATGAAACTGGAAGAAATTACTCCAGTTTCATAAGATCCCTCTTGGGCAGTACTTTTTAGTCACTAGTTTTGCTTTGGGATTATAGGCTGACATTTTCTGATTATTAGACAGTTTGCCAATATAAAGATTGAAATGGAAGAGGATTTTTCATTATCAGAGGACTAGTCACCATTCCTCAAACAATGCAACCTTTGAACACTTTTGCTATTTACTTATCCCATCTCTTGTGCCATTCTTCCTTGCTTTAATGGATTGTGACTCTGACTCCAGTATACTGTTTGATGCAGGCCAACCTCATACGGAAAATTTTCACCATCCGCATTTACTGTAGGATTTTAAAAAAGATACTGTGGATCAGGTTAAAAGTCTTCTTCTATTCCTAGTTTATAGGTGTGTTCTGTCATTAATGGATATTGAACTTTATCAAATTATTTCTTATCAGTGATGACTTACCTGTTAATGTGGCGAATTACAGATATAGCAGAGTTTCTGGTTTGGACCACTCTTTTGCCACTCTCGTCACAATGACTGTGAAAACTTAATTTGTTCAGGGGATTTAATTGTCCAGAAATTAGTAAGCAGTTTTCGCTGCAACTATGTAACAGTGTATGGAAAACATATAGACATAATTCCATATATTAGCTAGACCTGATTTTCAATTCACTTTAAAATGTTTTCATTGTAGGAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTGTAGAGATTTCTTAGAATCCCAGCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACAAGGGGATCCAGTGTGTAAATTGTATTCTCATAATACTGAAATGCTTTAGCATACTAGAATCAGATACAAAACTATTAAGTATGTCAACAGCCATTTAGGCAAATAAGCACTCCTTTAAAGCCGCTGCCTTCTGGTTACAATTTACAGTGTACTTTGTTAAAAACACTGCTGAGGCTTCATAATCATGGCTCTTAGAAACTCAGGAAAGAGGAGATAATGTGGATTAAAACCTTAAGAGTTCTAACCATGCCTACTAAATGTACAGATATGCAAATTCCATAGCTCAATAAAAGAATCTGATACTTAGACCAAAAGCAACATTCGTTCTCTAACCATTCTGTATTGATTATATAAGCAAAATGAAAAGAGAAACTTAAATGAACACAGCTCTTTAACATGGTTCAGGTACACATATTTTGACCCAAGTGGATATTTTCTTAAAACCAATCAATAATAGCTAGCTATTACTGCAGACTATAAAATCTGGATATAGAAAGGAGACCTGTATCAAACTGCTTTTGTAGTGTGTTTTCATAACAACTTATGACTAAAAATATCACACTGAATAAGAGAGCAGGATTGCCAGGTATTTTTCTATTTCTCTCCTTAATTTTATATGTATATAGATATATTTGGCTTATATTCTAAGTCACCTAAGTACTTAAAAGTTAAGTTGGTAAAGTATTTACTGACTGCTTATAAACATTTAAAGACAAAGACATTTCAAATAACTGCAGAAAAAATATTGTAGTTTGAATATTTAAGCAATAAAACTGCTAGTGAGTTATTGTAAGCTGGCTTACTTTTATTACTGCTAGTGTCTCCCCTGAGGATATGGTAAAAATTCATGTGGAAAGACCAATCTGAATTGTTTTTTAAATCATGTAATAATACCAAGAATATTTTTTCTTTGATTCAATTATTTATTGAGGCCAAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGACTGCTTGAGGCCAAGAATTCAAGACCAGCCTGGGCAACATAGTGAGAACCCCCTCTACAAAAAAGAAAAAAAAATTAGCCGGGTGGGATGGTGCATGTCTGTAGTCTGAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCGAGGAGGTCAAGGCTACAGTGAGCCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTATCTCCAAAATAAAAAAAAAAATAAAAAGACACAAGTTTATCGAATACCTACTGTCCTAGGCATTATACACAGCCACTACCTGATTAAACAGTATAAGATATTTTTGAGTACTTGCTTCACCAGAAATGTTTTGTAATTGACATCATTTTTTACTTAAAAATGCTTGTGAAGTTGGTTCCTATGAAAGGAGAACATCAGGACTCCCTTAATGTGACTTAGATGATTCGCTTACCAAGGCCTCTCCCAAAAGACAGAGGTGCTCTATCATCCCACCTTGTCTGTCTTTTCTAAAGATAGGTCCTATCTCCTCCTCTCATCCACCTAAGCCCCCTGAAATGTGTTAACTGGTTAGAATAATATACTCCAGTAAATCTTCTGAGTCTTACAATTTTATACCCTGCATAAGAGGAATAAAAGGACTACATGCAGGGAGAAACAAACTGGAATTGACTTTTTCACTACATAAAAATTTGAATTTGAAAATAGAGTTTGAGAAGACAACCTCCCCTTTTATAAAATGCTTCAAACATGACTGAATCATGTAACAGGGATAATTTTAATTAAACATCATAAAAACTGGGTTTAGCATAGTATGATTTTTCCCCAGTAAGTAGACCAAAAACTCTCAGCTAGGAGTACAACCCCTTGGAAAATTAAGCTCTAATGAAAACCCAGCTACCACTCAT
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AGGGAAGAATCAATGGACTTGTTTTTTTTAACACTCTTCTGTACCTCATTTTCCCTACTTAATTCCTAATGACATAACCTTTTTCCTTTCTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATAGGGTAGGATTTTAGGGGTAGATCACAACAGTTTTTATTTATTTTCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGTGATTATTTTTTTTTTTAACTGTAATTATATGCTGGGCTTGAGCTAAACAATCTGAACTAGAATGTAGAACTGAAAAGAAGTGAGGAAAACTGAGGGGGAGGAAAAAAATATTTTGACTTTTTTTTTTTTTAACCAGGGAGTGAGAGTCAGGAAAAGGAGACTGGAACAATTGGACATTGTTCCAAGTAGCTTTTACATCATCTAAACCTGCTGCATATCTTAGGTATTTACCACTCTGAGCACTGTATACCACTAGAAGGGGAATGAAACCTTAGATCTGTAGAGGAAAACTATTACAGAAACTCCAAAAGTTATAGAAAATTGCACCCAGCATTAGATAGATGGTACTCTACACTAAGAATCTGCTAAATGAGGCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCGCTTGAGCCCTGGAGTTCGAGATGAGACCAGCCTGAACAACATGGTGAAACCCCATCTCTACAAAGAAATTTAAAAATTAGCTGGGCTTAGTGGCATGCGCTTGTAGTCCCAGCTATTTGAGGATGGGGGTGCTGAGGAGGATAGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCTTGATTGTACCACTGCACTCCAGCATGGGCAAAAGAGCCAGACCCTGTCTGAGAAAAAAAAAAAAAAAAGATTAAATGAAAACTTCTACAATTGGGATTGGGGTGAATCCAACTAATGTATTATTACCCTAAATGTACAGTTGTACTAAAAGCCTTCTAGTAACTAAAGTGAATGGAAATAGAATACCTCAATGAAACTGGAAGAAATTACTCCAGTTTCATAAGATCCCTCTTGGGCAGTACTTTTTAGTCACTAGTTTTGCTTTGGGATTATAGGCTGACATTTTCTGATTATTAGACAGTTTGCCAATATAAAGATTGAAATGGAAGAGGATTTTTCATTATCAGAGGACTAGTCACCATTCCTCAAACAATGCAACCTTTGAACACTTTTGCTATTTACTTATCCCATCTCTTGTGCCATTCTTCCTTGCTTTAATGGATTGTGACTCTGACTCCAGTATACTGTTTGATGCAGGCCAACCTCATACGGAAAATTTTCACCATCCGCATTTACTGTAGGATTTTAAAAAAGATACTGTGGATCAGGTTAAAAGTCTTCTTCTATTCCTAGTTTATAGGTGTGTTCTGTCATTAATGGATATTGAACTTTATCAAATTATTTCTTATCAGTGATGACTTACCTGTTAATGTGGCGAATTACAGATATAGCAGAGTTTCTGGTTTGGACCACTCTTTTGCCACTCTCGTCACAATGACTGTGAAAACTTAATTTGTTCAGGGGATTTAATTGTCCAGAAATTAGTAAGCAGTTTTCGCTGCAACTATGTAACAGTGTATGGAAAACATATAGACATAATTCCATATATTAGCTAGACCTGATTTTCAATTCACTTTAAAATGTTTTCATTGTAGGAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATACGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTGTAGAGATTTCTTAGAATCCCAGCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACAAGGGGATCCAGTGTGTAAATTGTATTCTCATAATACTGAAATGCTTTAGCATACTAGAATCAGATACAAAACTATTAAGTATGTCAACAGCCATTTAGGCAAATAAGCACTCCTTTAAAGCCGCTGCCTTCTGGTTACAATTTACAGTGTACTTTGTTAAAAACACTGCTGAGGCTTCATAATCATGGCTCTTAGAAACTCAGGAAAGAGGAGATAATGTGGATTAAAACCTTAAGAGTTCTAACCATGCCTACTAAATGTACAGATATGCAAATTCCATAGCTCAATAAAAGAATCTGATACTTAGACCAAAAGCAACATTCGTTCTCTAACCATTCTGTATTGATTATATAAGCAAAATGAAAAGAGAAACTTAAATGAACACAGCTCTTTAACATGGTTCAGGTACACATATTTTGACCCAAGTGGATATTTTCTTAAAACCAATCAATAATAGCTAGCTATTACTGCAGACTATAAAATCTGGATATAGAAAGGAGACCTGTATCAAACTGCTTTTGTAGTGTGTTTTCATAACAACTTATGACTAAAAATATCACACTGAATAAGAGAGCAGGATTGCCAGGTATTTTTCTATTTCTCTCCTTAATTTTATATGTATATAGATATATTTGGCTTATATTCTAAGTCACCTAAGTACTTAAAAGTTAAGTTGGTAAAGTATTTACTGACTGCTTATAAACATTTAAAGACAAAGACATTTCAAATAACTGCAGAAAAAATATTGTAGTTTGAATATTTAAGCAATAAAACTGCTAGTGAGTTATTGTAAGCTGGCTTACTTTTATTACTGCTAGTGTCTCCCCTGAGGATATGGTAAAAATTCATGTGGAAAGACCAATCTGAATTGTTTTTTAAATCATGTAATAATACCAAGAATATTTTTTCTTTGATTCAATTATTTATTGAGGCCAAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGACTGCTTGAGGCCAAGAATTCAAGACCAGCCTGGGCAACATAGTGAGAACCCCCTCTACAAAAAAGAAAAAAAAATTAGCCGGGTGGGATGGTGCATGTCTGTAGTCTGAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCGAGGAGGTCAAGGCTACAGTGAGCCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTATCTCCAAAATAAAAAAAAAAATAAAAAGACACAAGTTTATCGAATACCTACTGTCCTAGGCATTATACACAGCCACTACCTGATTAAACAGTATAAGATATTTTTGAGTACTTGCTTCACCAGAAATGTTTTGTAATTGACATCATTTTTTACTTAAAAATGCTTGTGAAGTTGGTTCCTATGAAAGGAGAACATCAGGACTCCCTTAATGTGACTTAGATGATTCGCTTACCAAGGCCTCTCCCAAAAGACAGAGGTGCTCTATCATCCCACCTTGTCTGTCTTTTCTAAAGATAGGTCCTATCTCCTCCTCTCATCCACCTAAGCCCCCTGAAATGTGTTAACTGGTTAGAATAATATACTCCAGTAAATCTTCTGAGTCTTACAATTTTATACCCTGCATAAGAGGAATAAAAGGACTACATGCAGGGAGAAACAAACTGGAATTGACTTTTTCACTACATAAAAATTTGAATTTGAAAATAGAGTTTGAGAAGACAACCTCCCCTTTTATAAAATGCTTCAAACATGACTGAATCATGTAACAGGGATAATTTTAATTAAACATCATAAAAACTGGGTTTAGCATAGTATGATTTTTCCCCAGTAAGTAGACCAAAAACTCTCAGCTAGGAGTACAACCCCTTGGAAAATTAAGCTCTAATGAAAACCCAGCTACCACTCAT
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Task1_train_19684
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Gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Bilateral sensorineural hearing impairment
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CTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATAGGGTAGGATTTTAGGGGTAGATCACAACAGTTTTTATTTATTTTCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGTGATTATTTTTTTTTTTAACTGTAATTATATGCTGGGCTTGAGCTAAACAATCTGAACTAGAATGTAGAACTGAAAAGAAGTGAGGAAAACTGAGGGGGAGGAAAAAAATATTTTGACTTTTTTTTTTTTTAACCAGGGAGTGAGAGTCAGGAAAAGGAGACTGGAACAATTGGACATTGTTCCAAGTAGCTTTTACATCATCTAAACCTGCTGCATATCTTAGGTATTTACCACTCTGAGCACTGTATACCACTAGAAGGGGAATGAAACCTTAGATCTGTAGAGGAAAACTATTACAGAAACTCCAAAAGTTATAGAAAATTGCACCCAGCATTAGATAGATGGTACTCTACACTAAGAATCTGCTAAATGAGGCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCGCTTGAGCCCTGGAGTTCGAGATGAGACCAGCCTGAACAACATGGTGAAACCCCATCTCTACAAAGAAATTTAAAAATTAGCTGGGCTTAGTGGCATGCGCTTGTAGTCCCAGCTATTTGAGGATGGGGGTGCTGAGGAGGATAGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCTTGATTGTACCACTGCACTCCAGCATGGGCAAAAGAGCCAGACCCTGTCTGAGAAAAAAAAAAAAAAAAGATTAAATGAAAACTTCTACAATTGGGATTGGGGTGAATCCAACTAATGTATTATTACCCTAAATGTACAGTTGTACTAAAAGCCTTCTAGTAACTAAAGTGAATGGAAATAGAATACCTCAATGAAACTGGAAGAAATTACTCCAGTTTCATAAGATCCCTCTTGGGCAGTACTTTTTAGTCACTAGTTTTGCTTTGGGATTATAGGCTGACATTTTCTGATTATTAGACAGTTTGCCAATATAAAGATTGAAATGGAAGAGGATTTTTCATTATCAGAGGACTAGTCACCATTCCTCAAACAATGCAACCTTTGAACACTTTTGCTATTTACTTATCCCATCTCTTGTGCCATTCTTCCTTGCTTTAATGGATTGTGACTCTGACTCCAGTATACTGTTTGATGCAGGCCAACCTCATACGGAAAATTTTCACCATCCGCATTTACTGTAGGATTTTAAAAAAGATACTGTGGATCAGGTTAAAAGTCTTCTTCTATTCCTAGTTTATAGGTGTGTTCTGTCATTAATGGATATTGAACTTTATCAAATTATTTCTTATCAGTGATGACTTACCTGTTAATGTGGCGAATTACAGATATAGCAGAGTTTCTGGTTTGGACCACTCTTTTGCCACTCTCGTCACAATGACTGTGAAAACTTAATTTGTTCAGGGGATTTAATTGTCCAGAAATTAGTAAGCAGTTTTCGCTGCAACTATGTAACAGTGTATGGAAAACATATAGACATAATTCCATATATTAGCTAGACCTGATTTTCAATTCACTTTAAAATGTTTTCATTGTAGGAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTGTAGAGATTTCTTAGAATCCCAGCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACAAGGGGATCCAGTGTGTAAATTGTATTCTCATAATACTGAAATGCTTTAGCATACTAGAATCAGATACAAAACTATTAAGTATGTCAACAGCCATTTAGGCAAATAAGCACTCCTTTAAAGCCGCTGCCTTCTGGTTACAATTTACAGTGTACTTTGTTAAAAACACTGCTGAGGCTTCATAATCATGGCTCTTAGAAACTCAGGAAAGAGGAGATAATGTGGATTAAAACCTTAAGAGTTCTAACCATGCCTACTAAATGTACAGATATGCAAATTCCATAGCTCAATAAAAGAATCTGATACTTAGACCAAAAGCAACATTCGTTCTCTAACCATTCTGTATTGATTATATAAGCAAAATGAAAAGAGAAACTTAAATGAACACAGCTCTTTAACATGGTTCAGGTACACATATTTTGACCCAAGTGGATATTTTCTTAAAACCAATCAATAATAGCTAGCTATTACTGCAGACTATAAAATCTGGATATAGAAAGGAGACCTGTATCAAACTGCTTTTGTAGTGTGTTTTCATAACAACTTATGACTAAAAATATCACACTGAATAAGAGAGCAGGATTGCCAGGTATTTTTCTATTTCTCTCCTTAATTTTATATGTATATAGATATATTTGGCTTATATTCTAAGTCACCTAAGTACTTAAAAGTTAAGTTGGTAAAGTATTTACTGACTGCTTATAAACATTTAAAGACAAAGACATTTCAAATAACTGCAGAAAAAATATTGTAGTTTGAATATTTAAGCAATAAAACTGCTAGTGAGTTATTGTAAGCTGGCTTACTTTTATTACTGCTAGTGTCTCCCCTGAGGATATGGTAAAAATTCATGTGGAAAGACCAATCTGAATTGTTTTTTAAATCATGTAATAATACCAAGAATATTTTTTCTTTGATTCAATTATTTATTGAGGCCAAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGACTGCTTGAGGCCAAGAATTCAAGACCAGCCTGGGCAACATAGTGAGAACCCCCTCTACAAAAAAGAAAAAAAAATTAGCCGGGTGGGATGGTGCATGTCTGTAGTCTGAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCGAGGAGGTCAAGGCTACAGTGAGCCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTATCTCCAAAATAAAAAAAAAAATAAAAAGACACAAGTTTATCGAATACCTACTGTCCTAGGCATTATACACAGCCACTACCTGATTAAACAGTATAAGATATTTTTGAGTACTTGCTTCACCAGAAATGTTTTGTAATTGACATCATTTTTTACTTAAAAATGCTTGTGAAGTTGGTTCCTATGAAAGGAGAACATCAGGACTCCCTTAATGTGACTTAGATGATTCGCTTACCAAGGCCTCTCCCAAAAGACAGAGGTGCTCTATCATCCCACCTTGTCTGTCTTTTCTAAAGATAGGTCCTATCTCCTCCTCTCATCCACCTAAGCCCCCTGAAATGTGTTAACTGGTTAGAATAATATACTCCAGTAAATCTTCTGAGTCTTACAATTTTATACCCTGCATAAGAGGAATAAAAGGACTACATGCAGGGAGAAACAAACTGGAATTGACTTTTTCACTACATAAAAATTTGAATTTGAAAATAGAGTTTGAGAAGACAACCTCCCCTTTTATAAAATGCTTCAAACATGACTGAATCATGTAACAGGGATAATTTTAATTAAACATCATAAAAACTGGGTTTAGCATAGTATGATTTTTCCCCAGTAAGTAGACCAAAAACTCTCAGCTAGGAGTACAACCCCTTGGAAAATTAAGCTCTAATGAAAACCCAGCTACCACTCATTAGCCCTTTTAAGAAAGTGGTTTTTTCTTTAATTTTATAAAGGACCAAGTTTTGAGTCACCTGAAGTAACCAGGGAATAGCAGCAAGAC
|
CTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATAGGGTAGGATTTTAGGGGTAGATCACAACAGTTTTTATTTATTTTCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGTGATTATTTTTTTTTTTAACTGTAATTATATGCTGGGCTTGAGCTAAACAATCTGAACTAGAATGTAGAACTGAAAAGAAGTGAGGAAAACTGAGGGGGAGGAAAAAAATATTTTGACTTTTTTTTTTTTTAACCAGGGAGTGAGAGTCAGGAAAAGGAGACTGGAACAATTGGACATTGTTCCAAGTAGCTTTTACATCATCTAAACCTGCTGCATATCTTAGGTATTTACCACTCTGAGCACTGTATACCACTAGAAGGGGAATGAAACCTTAGATCTGTAGAGGAAAACTATTACAGAAACTCCAAAAGTTATAGAAAATTGCACCCAGCATTAGATAGATGGTACTCTACACTAAGAATCTGCTAAATGAGGCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCGCTTGAGCCCTGGAGTTCGAGATGAGACCAGCCTGAACAACATGGTGAAACCCCATCTCTACAAAGAAATTTAAAAATTAGCTGGGCTTAGTGGCATGCGCTTGTAGTCCCAGCTATTTGAGGATGGGGGTGCTGAGGAGGATAGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCTTGATTGTACCACTGCACTCCAGCATGGGCAAAAGAGCCAGACCCTGTCTGAGAAAAAAAAAAAAAAAAGATTAAATGAAAACTTCTACAATTGGGATTGGGGTGAATCCAACTAATGTATTATTACCCTAAATGTACAGTTGTACTAAAAGCCTTCTAGTAACTAAAGTGAATGGAAATAGAATACCTCAATGAAACTGGAAGAAATTACTCCAGTTTCATAAGATCCCTCTTGGGCAGTACTTTTTAGTCACTAGTTTTGCTTTGGGATTATAGGCTGACATTTTCTGATTATTAGACAGTTTGCCAATATAAAGATTGAAATGGAAGAGGATTTTTCATTATCAGAGGACTAGTCACCATTCCTCAAACAATGCAACCTTTGAACACTTTTGCTATTTACTTATCCCATCTCTTGTGCCATTCTTCCTTGCTTTAATGGATTGTGACTCTGACTCCAGTATACTGTTTGATGCAGGCCAACCTCATACGGAAAATTTTCACCATCCGCATTTACTGTAGGATTTTAAAAAAGATACTGTGGATCAGGTTAAAAGTCTTCTTCTATTCCTAGTTTATAGGTGTGTTCTGTCATTAATGGATATTGAACTTTATCAAATTATTTCTTATCAGTGATGACTTACCTGTTAATGTGGCGAATTACAGATATAGCAGAGTTTCTGGTTTGGACCACTCTTTTGCCACTCTCGTCACAATGACTGTGAAAACTTAATTTGTTCAGGGGATTTAATTGTCCAGAAATTAGTAAGCAGTTTTCGCTGCAACTATGTAACAGTGTATGGAAAACATATAGACATAATTCCATATATTAGCTAGACCTGATTTTCAATTCACTTTAAAATGTTTTCATTGTAGGAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTCGTAGAGATTTCTTAGAATCCCAGCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACAAGGGGATCCAGTGTGTAAATTGTATTCTCATAATACTGAAATGCTTTAGCATACTAGAATCAGATACAAAACTATTAAGTATGTCAACAGCCATTTAGGCAAATAAGCACTCCTTTAAAGCCGCTGCCTTCTGGTTACAATTTACAGTGTACTTTGTTAAAAACACTGCTGAGGCTTCATAATCATGGCTCTTAGAAACTCAGGAAAGAGGAGATAATGTGGATTAAAACCTTAAGAGTTCTAACCATGCCTACTAAATGTACAGATATGCAAATTCCATAGCTCAATAAAAGAATCTGATACTTAGACCAAAAGCAACATTCGTTCTCTAACCATTCTGTATTGATTATATAAGCAAAATGAAAAGAGAAACTTAAATGAACACAGCTCTTTAACATGGTTCAGGTACACATATTTTGACCCAAGTGGATATTTTCTTAAAACCAATCAATAATAGCTAGCTATTACTGCAGACTATAAAATCTGGATATAGAAAGGAGACCTGTATCAAACTGCTTTTGTAGTGTGTTTTCATAACAACTTATGACTAAAAATATCACACTGAATAAGAGAGCAGGATTGCCAGGTATTTTTCTATTTCTCTCCTTAATTTTATATGTATATAGATATATTTGGCTTATATTCTAAGTCACCTAAGTACTTAAAAGTTAAGTTGGTAAAGTATTTACTGACTGCTTATAAACATTTAAAGACAAAGACATTTCAAATAACTGCAGAAAAAATATTGTAGTTTGAATATTTAAGCAATAAAACTGCTAGTGAGTTATTGTAAGCTGGCTTACTTTTATTACTGCTAGTGTCTCCCCTGAGGATATGGTAAAAATTCATGTGGAAAGACCAATCTGAATTGTTTTTTAAATCATGTAATAATACCAAGAATATTTTTTCTTTGATTCAATTATTTATTGAGGCCAAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGACTGCTTGAGGCCAAGAATTCAAGACCAGCCTGGGCAACATAGTGAGAACCCCCTCTACAAAAAAGAAAAAAAAATTAGCCGGGTGGGATGGTGCATGTCTGTAGTCTGAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCGAGGAGGTCAAGGCTACAGTGAGCCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTATCTCCAAAATAAAAAAAAAAATAAAAAGACACAAGTTTATCGAATACCTACTGTCCTAGGCATTATACACAGCCACTACCTGATTAAACAGTATAAGATATTTTTGAGTACTTGCTTCACCAGAAATGTTTTGTAATTGACATCATTTTTTACTTAAAAATGCTTGTGAAGTTGGTTCCTATGAAAGGAGAACATCAGGACTCCCTTAATGTGACTTAGATGATTCGCTTACCAAGGCCTCTCCCAAAAGACAGAGGTGCTCTATCATCCCACCTTGTCTGTCTTTTCTAAAGATAGGTCCTATCTCCTCCTCTCATCCACCTAAGCCCCCTGAAATGTGTTAACTGGTTAGAATAATATACTCCAGTAAATCTTCTGAGTCTTACAATTTTATACCCTGCATAAGAGGAATAAAAGGACTACATGCAGGGAGAAACAAACTGGAATTGACTTTTTCACTACATAAAAATTTGAATTTGAAAATAGAGTTTGAGAAGACAACCTCCCCTTTTATAAAATGCTTCAAACATGACTGAATCATGTAACAGGGATAATTTTAATTAAACATCATAAAAACTGGGTTTAGCATAGTATGATTTTTCCCCAGTAAGTAGACCAAAAACTCTCAGCTAGGAGTACAACCCCTTGGAAAATTAAGCTCTAATGAAAACCCAGCTACCACTCATTAGCCCTTTTAAGAAAGTGGTTTTTTCTTTAATTTTATAAAGGACCAAGTTTTGAGTCACCTGAAGTAACCAGGGAATAGCAGCAAGAC
|
Task1_train_19685
|
This alteration in COCH, LOC100506071 (cochlin| uncharacterized LOC100506071) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 9
|
TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATAGGGTAGGATTTTAGGGGTAGATCACAACAGTTTTTATTTATTTTCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGTGATTATTTTTTTTTTTAACTGTAATTATATGCTGGGCTTGAGCTAAACAATCTGAACTAGAATGTAGAACTGAAAAGAAGTGAGGAAAACTGAGGGGGAGGAAAAAAATATTTTGACTTTTTTTTTTTTTAACCAGGGAGTGAGAGTCAGGAAAAGGAGACTGGAACAATTGGACATTGTTCCAAGTAGCTTTTACATCATCTAAACCTGCTGCATATCTTAGGTATTTACCACTCTGAGCACTGTATACCACTAGAAGGGGAATGAAACCTTAGATCTGTAGAGGAAAACTATTACAGAAACTCCAAAAGTTATAGAAAATTGCACCCAGCATTAGATAGATGGTACTCTACACTAAGAATCTGCTAAATGAGGCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCGCTTGAGCCCTGGAGTTCGAGATGAGACCAGCCTGAACAACATGGTGAAACCCCATCTCTACAAAGAAATTTAAAAATTAGCTGGGCTTAGTGGCATGCGCTTGTAGTCCCAGCTATTTGAGGATGGGGGTGCTGAGGAGGATAGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCTTGATTGTACCACTGCACTCCAGCATGGGCAAAAGAGCCAGACCCTGTCTGAGAAAAAAAAAAAAAAAAGATTAAATGAAAACTTCTACAATTGGGATTGGGGTGAATCCAACTAATGTATTATTACCCTAAATGTACAGTTGTACTAAAAGCCTTCTAGTAACTAAAGTGAATGGAAATAGAATACCTCAATGAAACTGGAAGAAATTACTCCAGTTTCATAAGATCCCTCTTGGGCAGTACTTTTTAGTCACTAGTTTTGCTTTGGGATTATAGGCTGACATTTTCTGATTATTAGACAGTTTGCCAATATAAAGATTGAAATGGAAGAGGATTTTTCATTATCAGAGGACTAGTCACCATTCCTCAAACAATGCAACCTTTGAACACTTTTGCTATTTACTTATCCCATCTCTTGTGCCATTCTTCCTTGCTTTAATGGATTGTGACTCTGACTCCAGTATACTGTTTGATGCAGGCCAACCTCATACGGAAAATTTTCACCATCCGCATTTACTGTAGGATTTTAAAAAAGATACTGTGGATCAGGTTAAAAGTCTTCTTCTATTCCTAGTTTATAGGTGTGTTCTGTCATTAATGGATATTGAACTTTATCAAATTATTTCTTATCAGTGATGACTTACCTGTTAATGTGGCGAATTACAGATATAGCAGAGTTTCTGGTTTGGACCACTCTTTTGCCACTCTCGTCACAATGACTGTGAAAACTTAATTTGTTCAGGGGATTTAATTGTCCAGAAATTAGTAAGCAGTTTTCGCTGCAACTATGTAACAGTGTATGGAAAACATATAGACATAATTCCATATATTAGCTAGACCTGATTTTCAATTCACTTTAAAATGTTTTCATTGTAGGAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTGTAGAGATTTCTTAGAATCCCAGCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACAAGGGGATCCAGTGTGTAAATTGTATTCTCATAATACTGAAATGCTTTAGCATACTAGAATCAGATACAAAACTATTAAGTATGTCAACAGCCATTTAGGCAAATAAGCACTCCTTTAAAGCCGCTGCCTTCTGGTTACAATTTACAGTGTACTTTGTTAAAAACACTGCTGAGGCTTCATAATCATGGCTCTTAGAAACTCAGGAAAGAGGAGATAATGTGGATTAAAACCTTAAGAGTTCTAACCATGCCTACTAAATGTACAGATATGCAAATTCCATAGCTCAATAAAAGAATCTGATACTTAGACCAAAAGCAACATTCGTTCTCTAACCATTCTGTATTGATTATATAAGCAAAATGAAAAGAGAAACTTAAATGAACACAGCTCTTTAACATGGTTCAGGTACACATATTTTGACCCAAGTGGATATTTTCTTAAAACCAATCAATAATAGCTAGCTATTACTGCAGACTATAAAATCTGGATATAGAAAGGAGACCTGTATCAAACTGCTTTTGTAGTGTGTTTTCATAACAACTTATGACTAAAAATATCACACTGAATAAGAGAGCAGGATTGCCAGGTATTTTTCTATTTCTCTCCTTAATTTTATATGTATATAGATATATTTGGCTTATATTCTAAGTCACCTAAGTACTTAAAAGTTAAGTTGGTAAAGTATTTACTGACTGCTTATAAACATTTAAAGACAAAGACATTTCAAATAACTGCAGAAAAAATATTGTAGTTTGAATATTTAAGCAATAAAACTGCTAGTGAGTTATTGTAAGCTGGCTTACTTTTATTACTGCTAGTGTCTCCCCTGAGGATATGGTAAAAATTCATGTGGAAAGACCAATCTGAATTGTTTTTTAAATCATGTAATAATACCAAGAATATTTTTTCTTTGATTCAATTATTTATTGAGGCCAAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGACTGCTTGAGGCCAAGAATTCAAGACCAGCCTGGGCAACATAGTGAGAACCCCCTCTACAAAAAAGAAAAAAAAATTAGCCGGGTGGGATGGTGCATGTCTGTAGTCTGAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCGAGGAGGTCAAGGCTACAGTGAGCCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTATCTCCAAAATAAAAAAAAAAATAAAAAGACACAAGTTTATCGAATACCTACTGTCCTAGGCATTATACACAGCCACTACCTGATTAAACAGTATAAGATATTTTTGAGTACTTGCTTCACCAGAAATGTTTTGTAATTGACATCATTTTTTACTTAAAAATGCTTGTGAAGTTGGTTCCTATGAAAGGAGAACATCAGGACTCCCTTAATGTGACTTAGATGATTCGCTTACCAAGGCCTCTCCCAAAAGACAGAGGTGCTCTATCATCCCACCTTGTCTGTCTTTTCTAAAGATAGGTCCTATCTCCTCCTCTCATCCACCTAAGCCCCCTGAAATGTGTTAACTGGTTAGAATAATATACTCCAGTAAATCTTCTGAGTCTTACAATTTTATACCCTGCATAAGAGGAATAAAAGGACTACATGCAGGGAGAAACAAACTGGAATTGACTTTTTCACTACATAAAAATTTGAATTTGAAAATAGAGTTTGAGAAGACAACCTCCCCTTTTATAAAATGCTTCAAACATGACTGAATCATGTAACAGGGATAATTTTAATTAAACATCATAAAAACTGGGTTTAGCATAGTATGATTTTTCCCCAGTAAGTAGACCAAAAACTCTCAGCTAGGAGTACAACCCCTTGGAAAATTAAGCTCTAATGAAAACCCAGCTACCACTCATTAGCCCTTTTAAGAAAGTGGTTTTTTCTTTAATTTTATAAAGGACCAAGTTTTGAGTCACCTGAAGTAACCAGGGAATAGCAGCAAGACA
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TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATAGGGTAGGATTTTAGGGGTAGATCACAACAGTTTTTATTTATTTTCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGTGATTATTTTTTTTTTTAACTGTAATTATATGCTGGGCTTGAGCTAAACAATCTGAACTAGAATGTAGAACTGAAAAGAAGTGAGGAAAACTGAGGGGGAGGAAAAAAATATTTTGACTTTTTTTTTTTTTAACCAGGGAGTGAGAGTCAGGAAAAGGAGACTGGAACAATTGGACATTGTTCCAAGTAGCTTTTACATCATCTAAACCTGCTGCATATCTTAGGTATTTACCACTCTGAGCACTGTATACCACTAGAAGGGGAATGAAACCTTAGATCTGTAGAGGAAAACTATTACAGAAACTCCAAAAGTTATAGAAAATTGCACCCAGCATTAGATAGATGGTACTCTACACTAAGAATCTGCTAAATGAGGCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCGCTTGAGCCCTGGAGTTCGAGATGAGACCAGCCTGAACAACATGGTGAAACCCCATCTCTACAAAGAAATTTAAAAATTAGCTGGGCTTAGTGGCATGCGCTTGTAGTCCCAGCTATTTGAGGATGGGGGTGCTGAGGAGGATAGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCTTGATTGTACCACTGCACTCCAGCATGGGCAAAAGAGCCAGACCCTGTCTGAGAAAAAAAAAAAAAAAAGATTAAATGAAAACTTCTACAATTGGGATTGGGGTGAATCCAACTAATGTATTATTACCCTAAATGTACAGTTGTACTAAAAGCCTTCTAGTAACTAAAGTGAATGGAAATAGAATACCTCAATGAAACTGGAAGAAATTACTCCAGTTTCATAAGATCCCTCTTGGGCAGTACTTTTTAGTCACTAGTTTTGCTTTGGGATTATAGGCTGACATTTTCTGATTATTAGACAGTTTGCCAATATAAAGATTGAAATGGAAGAGGATTTTTCATTATCAGAGGACTAGTCACCATTCCTCAAACAATGCAACCTTTGAACACTTTTGCTATTTACTTATCCCATCTCTTGTGCCATTCTTCCTTGCTTTAATGGATTGTGACTCTGACTCCAGTATACTGTTTGATGCAGGCCAACCTCATACGGAAAATTTTCACCATCCGCATTTACTGTAGGATTTTAAAAAAGATACTGTGGATCAGGTTAAAAGTCTTCTTCTATTCCTAGTTTATAGGTGTGTTCTGTCATTAATGGATATTGAACTTTATCAAATTATTTCTTATCAGTGATGACTTACCTGTTAATGTGGCGAATTACAGATATAGCAGAGTTTCTGGTTTGGACCACTCTTTTGCCACTCTCGTCACAATGACTGTGAAAACTTAATTTGTTCAGGGGATTTAATTGTCCAGAAATTAGTAAGCAGTTTTCGCTGCAACTATGTAACAGTGTATGGAAAACATATAGACATAATTCCATATATTAGCTAGACCTGATTTTCAATTCACTTTAAAATGTTTTCATTGTAGGAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTATAGAGATTTCTTAGAATCCCAGCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACAAGGGGATCCAGTGTGTAAATTGTATTCTCATAATACTGAAATGCTTTAGCATACTAGAATCAGATACAAAACTATTAAGTATGTCAACAGCCATTTAGGCAAATAAGCACTCCTTTAAAGCCGCTGCCTTCTGGTTACAATTTACAGTGTACTTTGTTAAAAACACTGCTGAGGCTTCATAATCATGGCTCTTAGAAACTCAGGAAAGAGGAGATAATGTGGATTAAAACCTTAAGAGTTCTAACCATGCCTACTAAATGTACAGATATGCAAATTCCATAGCTCAATAAAAGAATCTGATACTTAGACCAAAAGCAACATTCGTTCTCTAACCATTCTGTATTGATTATATAAGCAAAATGAAAAGAGAAACTTAAATGAACACAGCTCTTTAACATGGTTCAGGTACACATATTTTGACCCAAGTGGATATTTTCTTAAAACCAATCAATAATAGCTAGCTATTACTGCAGACTATAAAATCTGGATATAGAAAGGAGACCTGTATCAAACTGCTTTTGTAGTGTGTTTTCATAACAACTTATGACTAAAAATATCACACTGAATAAGAGAGCAGGATTGCCAGGTATTTTTCTATTTCTCTCCTTAATTTTATATGTATATAGATATATTTGGCTTATATTCTAAGTCACCTAAGTACTTAAAAGTTAAGTTGGTAAAGTATTTACTGACTGCTTATAAACATTTAAAGACAAAGACATTTCAAATAACTGCAGAAAAAATATTGTAGTTTGAATATTTAAGCAATAAAACTGCTAGTGAGTTATTGTAAGCTGGCTTACTTTTATTACTGCTAGTGTCTCCCCTGAGGATATGGTAAAAATTCATGTGGAAAGACCAATCTGAATTGTTTTTTAAATCATGTAATAATACCAAGAATATTTTTTCTTTGATTCAATTATTTATTGAGGCCAAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGACTGCTTGAGGCCAAGAATTCAAGACCAGCCTGGGCAACATAGTGAGAACCCCCTCTACAAAAAAGAAAAAAAAATTAGCCGGGTGGGATGGTGCATGTCTGTAGTCTGAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCGAGGAGGTCAAGGCTACAGTGAGCCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTATCTCCAAAATAAAAAAAAAAATAAAAAGACACAAGTTTATCGAATACCTACTGTCCTAGGCATTATACACAGCCACTACCTGATTAAACAGTATAAGATATTTTTGAGTACTTGCTTCACCAGAAATGTTTTGTAATTGACATCATTTTTTACTTAAAAATGCTTGTGAAGTTGGTTCCTATGAAAGGAGAACATCAGGACTCCCTTAATGTGACTTAGATGATTCGCTTACCAAGGCCTCTCCCAAAAGACAGAGGTGCTCTATCATCCCACCTTGTCTGTCTTTTCTAAAGATAGGTCCTATCTCCTCCTCTCATCCACCTAAGCCCCCTGAAATGTGTTAACTGGTTAGAATAATATACTCCAGTAAATCTTCTGAGTCTTACAATTTTATACCCTGCATAAGAGGAATAAAAGGACTACATGCAGGGAGAAACAAACTGGAATTGACTTTTTCACTACATAAAAATTTGAATTTGAAAATAGAGTTTGAGAAGACAACCTCCCCTTTTATAAAATGCTTCAAACATGACTGAATCATGTAACAGGGATAATTTTAATTAAACATCATAAAAACTGGGTTTAGCATAGTATGATTTTTCCCCAGTAAGTAGACCAAAAACTCTCAGCTAGGAGTACAACCCCTTGGAAAATTAAGCTCTAATGAAAACCCAGCTACCACTCATTAGCCCTTTTAAGAAAGTGGTTTTTTCTTTAATTTTATAAAGGACCAAGTTTTGAGTCACCTGAAGTAACCAGGGAATAGCAGCAAGACA
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Task1_train_19686
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A sequence alteration has been identified in COCH, LOC100506071 (cochlin| uncharacterized LOC100506071) on Chromosome 14. Is it disease-inducing or harmless?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 9
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TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATAGGGTAGGATTTTAGGGGTAGATCACAACAGTTTTTATTTATTTTCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGTGATTATTTTTTTTTTTAACTGTAATTATATGCTGGGCTTGAGCTAAACAATCTGAACTAGAATGTAGAACTGAAAAGAAGTGAGGAAAACTGAGGGGGAGGAAAAAAATATTTTGACTTTTTTTTTTTTTAACCAGGGAGTGAGAGTCAGGAAAAGGAGACTGGAACAATTGGACATTGTTCCAAGTAGCTTTTACATCATCTAAACCTGCTGCATATCTTAGGTATTTACCACTCTGAGCACTGTATACCACTAGAAGGGGAATGAAACCTTAGATCTGTAGAGGAAAACTATTACAGAAACTCCAAAAGTTATAGAAAATTGCACCCAGCATTAGATAGATGGTACTCTACACTAAGAATCTGCTAAATGAGGCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCGCTTGAGCCCTGGAGTTCGAGATGAGACCAGCCTGAACAACATGGTGAAACCCCATCTCTACAAAGAAATTTAAAAATTAGCTGGGCTTAGTGGCATGCGCTTGTAGTCCCAGCTATTTGAGGATGGGGGTGCTGAGGAGGATAGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCTTGATTGTACCACTGCACTCCAGCATGGGCAAAAGAGCCAGACCCTGTCTGAGAAAAAAAAAAAAAAAAGATTAAATGAAAACTTCTACAATTGGGATTGGGGTGAATCCAACTAATGTATTATTACCCTAAATGTACAGTTGTACTAAAAGCCTTCTAGTAACTAAAGTGAATGGAAATAGAATACCTCAATGAAACTGGAAGAAATTACTCCAGTTTCATAAGATCCCTCTTGGGCAGTACTTTTTAGTCACTAGTTTTGCTTTGGGATTATAGGCTGACATTTTCTGATTATTAGACAGTTTGCCAATATAAAGATTGAAATGGAAGAGGATTTTTCATTATCAGAGGACTAGTCACCATTCCTCAAACAATGCAACCTTTGAACACTTTTGCTATTTACTTATCCCATCTCTTGTGCCATTCTTCCTTGCTTTAATGGATTGTGACTCTGACTCCAGTATACTGTTTGATGCAGGCCAACCTCATACGGAAAATTTTCACCATCCGCATTTACTGTAGGATTTTAAAAAAGATACTGTGGATCAGGTTAAAAGTCTTCTTCTATTCCTAGTTTATAGGTGTGTTCTGTCATTAATGGATATTGAACTTTATCAAATTATTTCTTATCAGTGATGACTTACCTGTTAATGTGGCGAATTACAGATATAGCAGAGTTTCTGGTTTGGACCACTCTTTTGCCACTCTCGTCACAATGACTGTGAAAACTTAATTTGTTCAGGGGATTTAATTGTCCAGAAATTAGTAAGCAGTTTTCGCTGCAACTATGTAACAGTGTATGGAAAACATATAGACATAATTCCATATATTAGCTAGACCTGATTTTCAATTCACTTTAAAATGTTTTCATTGTAGGAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTGTAGAGATTTCTTAGAATCCCAGCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACAAGGGGATCCAGTGTGTAAATTGTATTCTCATAATACTGAAATGCTTTAGCATACTAGAATCAGATACAAAACTATTAAGTATGTCAACAGCCATTTAGGCAAATAAGCACTCCTTTAAAGCCGCTGCCTTCTGGTTACAATTTACAGTGTACTTTGTTAAAAACACTGCTGAGGCTTCATAATCATGGCTCTTAGAAACTCAGGAAAGAGGAGATAATGTGGATTAAAACCTTAAGAGTTCTAACCATGCCTACTAAATGTACAGATATGCAAATTCCATAGCTCAATAAAAGAATCTGATACTTAGACCAAAAGCAACATTCGTTCTCTAACCATTCTGTATTGATTATATAAGCAAAATGAAAAGAGAAACTTAAATGAACACAGCTCTTTAACATGGTTCAGGTACACATATTTTGACCCAAGTGGATATTTTCTTAAAACCAATCAATAATAGCTAGCTATTACTGCAGACTATAAAATCTGGATATAGAAAGGAGACCTGTATCAAACTGCTTTTGTAGTGTGTTTTCATAACAACTTATGACTAAAAATATCACACTGAATAAGAGAGCAGGATTGCCAGGTATTTTTCTATTTCTCTCCTTAATTTTATATGTATATAGATATATTTGGCTTATATTCTAAGTCACCTAAGTACTTAAAAGTTAAGTTGGTAAAGTATTTACTGACTGCTTATAAACATTTAAAGACAAAGACATTTCAAATAACTGCAGAAAAAATATTGTAGTTTGAATATTTAAGCAATAAAACTGCTAGTGAGTTATTGTAAGCTGGCTTACTTTTATTACTGCTAGTGTCTCCCCTGAGGATATGGTAAAAATTCATGTGGAAAGACCAATCTGAATTGTTTTTTAAATCATGTAATAATACCAAGAATATTTTTTCTTTGATTCAATTATTTATTGAGGCCAAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGACTGCTTGAGGCCAAGAATTCAAGACCAGCCTGGGCAACATAGTGAGAACCCCCTCTACAAAAAAGAAAAAAAAATTAGCCGGGTGGGATGGTGCATGTCTGTAGTCTGAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCGAGGAGGTCAAGGCTACAGTGAGCCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTATCTCCAAAATAAAAAAAAAAATAAAAAGACACAAGTTTATCGAATACCTACTGTCCTAGGCATTATACACAGCCACTACCTGATTAAACAGTATAAGATATTTTTGAGTACTTGCTTCACCAGAAATGTTTTGTAATTGACATCATTTTTTACTTAAAAATGCTTGTGAAGTTGGTTCCTATGAAAGGAGAACATCAGGACTCCCTTAATGTGACTTAGATGATTCGCTTACCAAGGCCTCTCCCAAAAGACAGAGGTGCTCTATCATCCCACCTTGTCTGTCTTTTCTAAAGATAGGTCCTATCTCCTCCTCTCATCCACCTAAGCCCCCTGAAATGTGTTAACTGGTTAGAATAATATACTCCAGTAAATCTTCTGAGTCTTACAATTTTATACCCTGCATAAGAGGAATAAAAGGACTACATGCAGGGAGAAACAAACTGGAATTGACTTTTTCACTACATAAAAATTTGAATTTGAAAATAGAGTTTGAGAAGACAACCTCCCCTTTTATAAAATGCTTCAAACATGACTGAATCATGTAACAGGGATAATTTTAATTAAACATCATAAAAACTGGGTTTAGCATAGTATGATTTTTCCCCAGTAAGTAGACCAAAAACTCTCAGCTAGGAGTACAACCCCTTGGAAAATTAAGCTCTAATGAAAACCCAGCTACCACTCATTAGCCCTTTTAAGAAAGTGGTTTTTTCTTTAATTTTATAAAGGACCAAGTTTTGAGTCACCTGAAGTAACCAGGGAATAGCAGCAAGACA
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TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATAGGGTAGGATTTTAGGGGTAGATCACAACAGTTTTTATTTATTTTCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGTGATTATTTTTTTTTTTAACTGTAATTATATGCTGGGCTTGAGCTAAACAATCTGAACTAGAATGTAGAACTGAAAAGAAGTGAGGAAAACTGAGGGGGAGGAAAAAAATATTTTGACTTTTTTTTTTTTTAACCAGGGAGTGAGAGTCAGGAAAAGGAGACTGGAACAATTGGACATTGTTCCAAGTAGCTTTTACATCATCTAAACCTGCTGCATATCTTAGGTATTTACCACTCTGAGCACTGTATACCACTAGAAGGGGAATGAAACCTTAGATCTGTAGAGGAAAACTATTACAGAAACTCCAAAAGTTATAGAAAATTGCACCCAGCATTAGATAGATGGTACTCTACACTAAGAATCTGCTAAATGAGGCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCGCTTGAGCCCTGGAGTTCGAGATGAGACCAGCCTGAACAACATGGTGAAACCCCATCTCTACAAAGAAATTTAAAAATTAGCTGGGCTTAGTGGCATGCGCTTGTAGTCCCAGCTATTTGAGGATGGGGGTGCTGAGGAGGATAGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCTTGATTGTACCACTGCACTCCAGCATGGGCAAAAGAGCCAGACCCTGTCTGAGAAAAAAAAAAAAAAAAGATTAAATGAAAACTTCTACAATTGGGATTGGGGTGAATCCAACTAATGTATTATTACCCTAAATGTACAGTTGTACTAAAAGCCTTCTAGTAACTAAAGTGAATGGAAATAGAATACCTCAATGAAACTGGAAGAAATTACTCCAGTTTCATAAGATCCCTCTTGGGCAGTACTTTTTAGTCACTAGTTTTGCTTTGGGATTATAGGCTGACATTTTCTGATTATTAGACAGTTTGCCAATATAAAGATTGAAATGGAAGAGGATTTTTCATTATCAGAGGACTAGTCACCATTCCTCAAACAATGCAACCTTTGAACACTTTTGCTATTTACTTATCCCATCTCTTGTGCCATTCTTCCTTGCTTTAATGGATTGTGACTCTGACTCCAGTATACTGTTTGATGCAGGCCAACCTCATACGGAAAATTTTCACCATCCGCATTTACTGTAGGATTTTAAAAAAGATACTGTGGATCAGGTTAAAAGTCTTCTTCTATTCCTAGTTTATAGGTGTGTTCTGTCATTAATGGATATTGAACTTTATCAAATTATTTCTTATCAGTGATGACTTACCTGTTAATGTGGCGAATTACAGATATAGCAGAGTTTCTGGTTTGGACCACTCTTTTGCCACTCTCGTCACAATGACTGTGAAAACTTAATTTGTTCAGGGGATTTAATTGTCCAGAAATTAGTAAGCAGTTTTCGCTGCAACTATGTAACAGTGTATGGAAAACATATAGACATAATTCCATATATTAGCTAGACCTGATTTTCAATTCACTTTAAAATGTTTTCATTGTAGGAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTTTAGAGATTTCTTAGAATCCCAGCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACAAGGGGATCCAGTGTGTAAATTGTATTCTCATAATACTGAAATGCTTTAGCATACTAGAATCAGATACAAAACTATTAAGTATGTCAACAGCCATTTAGGCAAATAAGCACTCCTTTAAAGCCGCTGCCTTCTGGTTACAATTTACAGTGTACTTTGTTAAAAACACTGCTGAGGCTTCATAATCATGGCTCTTAGAAACTCAGGAAAGAGGAGATAATGTGGATTAAAACCTTAAGAGTTCTAACCATGCCTACTAAATGTACAGATATGCAAATTCCATAGCTCAATAAAAGAATCTGATACTTAGACCAAAAGCAACATTCGTTCTCTAACCATTCTGTATTGATTATATAAGCAAAATGAAAAGAGAAACTTAAATGAACACAGCTCTTTAACATGGTTCAGGTACACATATTTTGACCCAAGTGGATATTTTCTTAAAACCAATCAATAATAGCTAGCTATTACTGCAGACTATAAAATCTGGATATAGAAAGGAGACCTGTATCAAACTGCTTTTGTAGTGTGTTTTCATAACAACTTATGACTAAAAATATCACACTGAATAAGAGAGCAGGATTGCCAGGTATTTTTCTATTTCTCTCCTTAATTTTATATGTATATAGATATATTTGGCTTATATTCTAAGTCACCTAAGTACTTAAAAGTTAAGTTGGTAAAGTATTTACTGACTGCTTATAAACATTTAAAGACAAAGACATTTCAAATAACTGCAGAAAAAATATTGTAGTTTGAATATTTAAGCAATAAAACTGCTAGTGAGTTATTGTAAGCTGGCTTACTTTTATTACTGCTAGTGTCTCCCCTGAGGATATGGTAAAAATTCATGTGGAAAGACCAATCTGAATTGTTTTTTAAATCATGTAATAATACCAAGAATATTTTTTCTTTGATTCAATTATTTATTGAGGCCAAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGACTGCTTGAGGCCAAGAATTCAAGACCAGCCTGGGCAACATAGTGAGAACCCCCTCTACAAAAAAGAAAAAAAAATTAGCCGGGTGGGATGGTGCATGTCTGTAGTCTGAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCGAGGAGGTCAAGGCTACAGTGAGCCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTATCTCCAAAATAAAAAAAAAAATAAAAAGACACAAGTTTATCGAATACCTACTGTCCTAGGCATTATACACAGCCACTACCTGATTAAACAGTATAAGATATTTTTGAGTACTTGCTTCACCAGAAATGTTTTGTAATTGACATCATTTTTTACTTAAAAATGCTTGTGAAGTTGGTTCCTATGAAAGGAGAACATCAGGACTCCCTTAATGTGACTTAGATGATTCGCTTACCAAGGCCTCTCCCAAAAGACAGAGGTGCTCTATCATCCCACCTTGTCTGTCTTTTCTAAAGATAGGTCCTATCTCCTCCTCTCATCCACCTAAGCCCCCTGAAATGTGTTAACTGGTTAGAATAATATACTCCAGTAAATCTTCTGAGTCTTACAATTTTATACCCTGCATAAGAGGAATAAAAGGACTACATGCAGGGAGAAACAAACTGGAATTGACTTTTTCACTACATAAAAATTTGAATTTGAAAATAGAGTTTGAGAAGACAACCTCCCCTTTTATAAAATGCTTCAAACATGACTGAATCATGTAACAGGGATAATTTTAATTAAACATCATAAAAACTGGGTTTAGCATAGTATGATTTTTCCCCAGTAAGTAGACCAAAAACTCTCAGCTAGGAGTACAACCCCTTGGAAAATTAAGCTCTAATGAAAACCCAGCTACCACTCATTAGCCCTTTTAAGAAAGTGGTTTTTTCTTTAATTTTATAAAGGACCAAGTTTTGAGTCACCTGAAGTAACCAGGGAATAGCAGCAAGACA
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Task1_train_19687
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Gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Rare genetic deafness
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TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATAGGGTAGGATTTTAGGGGTAGATCACAACAGTTTTTATTTATTTTCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGTGATTATTTTTTTTTTTAACTGTAATTATATGCTGGGCTTGAGCTAAACAATCTGAACTAGAATGTAGAACTGAAAAGAAGTGAGGAAAACTGAGGGGGAGGAAAAAAATATTTTGACTTTTTTTTTTTTTAACCAGGGAGTGAGAGTCAGGAAAAGGAGACTGGAACAATTGGACATTGTTCCAAGTAGCTTTTACATCATCTAAACCTGCTGCATATCTTAGGTATTTACCACTCTGAGCACTGTATACCACTAGAAGGGGAATGAAACCTTAGATCTGTAGAGGAAAACTATTACAGAAACTCCAAAAGTTATAGAAAATTGCACCCAGCATTAGATAGATGGTACTCTACACTAAGAATCTGCTAAATGAGGCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCGCTTGAGCCCTGGAGTTCGAGATGAGACCAGCCTGAACAACATGGTGAAACCCCATCTCTACAAAGAAATTTAAAAATTAGCTGGGCTTAGTGGCATGCGCTTGTAGTCCCAGCTATTTGAGGATGGGGGTGCTGAGGAGGATAGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCTTGATTGTACCACTGCACTCCAGCATGGGCAAAAGAGCCAGACCCTGTCTGAGAAAAAAAAAAAAAAAAGATTAAATGAAAACTTCTACAATTGGGATTGGGGTGAATCCAACTAATGTATTATTACCCTAAATGTACAGTTGTACTAAAAGCCTTCTAGTAACTAAAGTGAATGGAAATAGAATACCTCAATGAAACTGGAAGAAATTACTCCAGTTTCATAAGATCCCTCTTGGGCAGTACTTTTTAGTCACTAGTTTTGCTTTGGGATTATAGGCTGACATTTTCTGATTATTAGACAGTTTGCCAATATAAAGATTGAAATGGAAGAGGATTTTTCATTATCAGAGGACTAGTCACCATTCCTCAAACAATGCAACCTTTGAACACTTTTGCTATTTACTTATCCCATCTCTTGTGCCATTCTTCCTTGCTTTAATGGATTGTGACTCTGACTCCAGTATACTGTTTGATGCAGGCCAACCTCATACGGAAAATTTTCACCATCCGCATTTACTGTAGGATTTTAAAAAAGATACTGTGGATCAGGTTAAAAGTCTTCTTCTATTCCTAGTTTATAGGTGTGTTCTGTCATTAATGGATATTGAACTTTATCAAATTATTTCTTATCAGTGATGACTTACCTGTTAATGTGGCGAATTACAGATATAGCAGAGTTTCTGGTTTGGACCACTCTTTTGCCACTCTCGTCACAATGACTGTGAAAACTTAATTTGTTCAGGGGATTTAATTGTCCAGAAATTAGTAAGCAGTTTTCGCTGCAACTATGTAACAGTGTATGGAAAACATATAGACATAATTCCATATATTAGCTAGACCTGATTTTCAATTCACTTTAAAATGTTTTCATTGTAGGAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTGTAGAGATTTCTTAGAATCCCAGCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACAAGGGGATCCAGTGTGTAAATTGTATTCTCATAATACTGAAATGCTTTAGCATACTAGAATCAGATACAAAACTATTAAGTATGTCAACAGCCATTTAGGCAAATAAGCACTCCTTTAAAGCCGCTGCCTTCTGGTTACAATTTACAGTGTACTTTGTTAAAAACACTGCTGAGGCTTCATAATCATGGCTCTTAGAAACTCAGGAAAGAGGAGATAATGTGGATTAAAACCTTAAGAGTTCTAACCATGCCTACTAAATGTACAGATATGCAAATTCCATAGCTCAATAAAAGAATCTGATACTTAGACCAAAAGCAACATTCGTTCTCTAACCATTCTGTATTGATTATATAAGCAAAATGAAAAGAGAAACTTAAATGAACACAGCTCTTTAACATGGTTCAGGTACACATATTTTGACCCAAGTGGATATTTTCTTAAAACCAATCAATAATAGCTAGCTATTACTGCAGACTATAAAATCTGGATATAGAAAGGAGACCTGTATCAAACTGCTTTTGTAGTGTGTTTTCATAACAACTTATGACTAAAAATATCACACTGAATAAGAGAGCAGGATTGCCAGGTATTTTTCTATTTCTCTCCTTAATTTTATATGTATATAGATATATTTGGCTTATATTCTAAGTCACCTAAGTACTTAAAAGTTAAGTTGGTAAAGTATTTACTGACTGCTTATAAACATTTAAAGACAAAGACATTTCAAATAACTGCAGAAAAAATATTGTAGTTTGAATATTTAAGCAATAAAACTGCTAGTGAGTTATTGTAAGCTGGCTTACTTTTATTACTGCTAGTGTCTCCCCTGAGGATATGGTAAAAATTCATGTGGAAAGACCAATCTGAATTGTTTTTTAAATCATGTAATAATACCAAGAATATTTTTTCTTTGATTCAATTATTTATTGAGGCCAAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGACTGCTTGAGGCCAAGAATTCAAGACCAGCCTGGGCAACATAGTGAGAACCCCCTCTACAAAAAAGAAAAAAAAATTAGCCGGGTGGGATGGTGCATGTCTGTAGTCTGAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCGAGGAGGTCAAGGCTACAGTGAGCCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTATCTCCAAAATAAAAAAAAAAATAAAAAGACACAAGTTTATCGAATACCTACTGTCCTAGGCATTATACACAGCCACTACCTGATTAAACAGTATAAGATATTTTTGAGTACTTGCTTCACCAGAAATGTTTTGTAATTGACATCATTTTTTACTTAAAAATGCTTGTGAAGTTGGTTCCTATGAAAGGAGAACATCAGGACTCCCTTAATGTGACTTAGATGATTCGCTTACCAAGGCCTCTCCCAAAAGACAGAGGTGCTCTATCATCCCACCTTGTCTGTCTTTTCTAAAGATAGGTCCTATCTCCTCCTCTCATCCACCTAAGCCCCCTGAAATGTGTTAACTGGTTAGAATAATATACTCCAGTAAATCTTCTGAGTCTTACAATTTTATACCCTGCATAAGAGGAATAAAAGGACTACATGCAGGGAGAAACAAACTGGAATTGACTTTTTCACTACATAAAAATTTGAATTTGAAAATAGAGTTTGAGAAGACAACCTCCCCTTTTATAAAATGCTTCAAACATGACTGAATCATGTAACAGGGATAATTTTAATTAAACATCATAAAAACTGGGTTTAGCATAGTATGATTTTTCCCCAGTAAGTAGACCAAAAACTCTCAGCTAGGAGTACAACCCCTTGGAAAATTAAGCTCTAATGAAAACCCAGCTACCACTCATTAGCCCTTTTAAGAAAGTGGTTTTTTCTTTAATTTTATAAAGGACCAAGTTTTGAGTCACCTGAAGTAACCAGGGAATAGCAGCAAGACA
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TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATAGGGTAGGATTTTAGGGGTAGATCACAACAGTTTTTATTTATTTTCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGTGATTATTTTTTTTTTTAACTGTAATTATATGCTGGGCTTGAGCTAAACAATCTGAACTAGAATGTAGAACTGAAAAGAAGTGAGGAAAACTGAGGGGGAGGAAAAAAATATTTTGACTTTTTTTTTTTTTAACCAGGGAGTGAGAGTCAGGAAAAGGAGACTGGAACAATTGGACATTGTTCCAAGTAGCTTTTACATCATCTAAACCTGCTGCATATCTTAGGTATTTACCACTCTGAGCACTGTATACCACTAGAAGGGGAATGAAACCTTAGATCTGTAGAGGAAAACTATTACAGAAACTCCAAAAGTTATAGAAAATTGCACCCAGCATTAGATAGATGGTACTCTACACTAAGAATCTGCTAAATGAGGCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCGCTTGAGCCCTGGAGTTCGAGATGAGACCAGCCTGAACAACATGGTGAAACCCCATCTCTACAAAGAAATTTAAAAATTAGCTGGGCTTAGTGGCATGCGCTTGTAGTCCCAGCTATTTGAGGATGGGGGTGCTGAGGAGGATAGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCTTGATTGTACCACTGCACTCCAGCATGGGCAAAAGAGCCAGACCCTGTCTGAGAAAAAAAAAAAAAAAAGATTAAATGAAAACTTCTACAATTGGGATTGGGGTGAATCCAACTAATGTATTATTACCCTAAATGTACAGTTGTACTAAAAGCCTTCTAGTAACTAAAGTGAATGGAAATAGAATACCTCAATGAAACTGGAAGAAATTACTCCAGTTTCATAAGATCCCTCTTGGGCAGTACTTTTTAGTCACTAGTTTTGCTTTGGGATTATAGGCTGACATTTTCTGATTATTAGACAGTTTGCCAATATAAAGATTGAAATGGAAGAGGATTTTTCATTATCAGAGGACTAGTCACCATTCCTCAAACAATGCAACCTTTGAACACTTTTGCTATTTACTTATCCCATCTCTTGTGCCATTCTTCCTTGCTTTAATGGATTGTGACTCTGACTCCAGTATACTGTTTGATGCAGGCCAACCTCATACGGAAAATTTTCACCATCCGCATTTACTGTAGGATTTTAAAAAAGATACTGTGGATCAGGTTAAAAGTCTTCTTCTATTCCTAGTTTATAGGTGTGTTCTGTCATTAATGGATATTGAACTTTATCAAATTATTTCTTATCAGTGATGACTTACCTGTTAATGTGGCGAATTACAGATATAGCAGAGTTTCTGGTTTGGACCACTCTTTTGCCACTCTCGTCACAATGACTGTGAAAACTTAATTTGTTCAGGGGATTTAATTGTCCAGAAATTAGTAAGCAGTTTTCGCTGCAACTATGTAACAGTGTATGGAAAACATATAGACATAATTCCATATATTAGCTAGACCTGATTTTCAATTCACTTTAAAATGTTTTCATTGTAGGAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTTTAGAGATTTCTTAGAATCCCAGCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACAAGGGGATCCAGTGTGTAAATTGTATTCTCATAATACTGAAATGCTTTAGCATACTAGAATCAGATACAAAACTATTAAGTATGTCAACAGCCATTTAGGCAAATAAGCACTCCTTTAAAGCCGCTGCCTTCTGGTTACAATTTACAGTGTACTTTGTTAAAAACACTGCTGAGGCTTCATAATCATGGCTCTTAGAAACTCAGGAAAGAGGAGATAATGTGGATTAAAACCTTAAGAGTTCTAACCATGCCTACTAAATGTACAGATATGCAAATTCCATAGCTCAATAAAAGAATCTGATACTTAGACCAAAAGCAACATTCGTTCTCTAACCATTCTGTATTGATTATATAAGCAAAATGAAAAGAGAAACTTAAATGAACACAGCTCTTTAACATGGTTCAGGTACACATATTTTGACCCAAGTGGATATTTTCTTAAAACCAATCAATAATAGCTAGCTATTACTGCAGACTATAAAATCTGGATATAGAAAGGAGACCTGTATCAAACTGCTTTTGTAGTGTGTTTTCATAACAACTTATGACTAAAAATATCACACTGAATAAGAGAGCAGGATTGCCAGGTATTTTTCTATTTCTCTCCTTAATTTTATATGTATATAGATATATTTGGCTTATATTCTAAGTCACCTAAGTACTTAAAAGTTAAGTTGGTAAAGTATTTACTGACTGCTTATAAACATTTAAAGACAAAGACATTTCAAATAACTGCAGAAAAAATATTGTAGTTTGAATATTTAAGCAATAAAACTGCTAGTGAGTTATTGTAAGCTGGCTTACTTTTATTACTGCTAGTGTCTCCCCTGAGGATATGGTAAAAATTCATGTGGAAAGACCAATCTGAATTGTTTTTTAAATCATGTAATAATACCAAGAATATTTTTTCTTTGATTCAATTATTTATTGAGGCCAAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGACTGCTTGAGGCCAAGAATTCAAGACCAGCCTGGGCAACATAGTGAGAACCCCCTCTACAAAAAAGAAAAAAAAATTAGCCGGGTGGGATGGTGCATGTCTGTAGTCTGAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCGAGGAGGTCAAGGCTACAGTGAGCCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTATCTCCAAAATAAAAAAAAAAATAAAAAGACACAAGTTTATCGAATACCTACTGTCCTAGGCATTATACACAGCCACTACCTGATTAAACAGTATAAGATATTTTTGAGTACTTGCTTCACCAGAAATGTTTTGTAATTGACATCATTTTTTACTTAAAAATGCTTGTGAAGTTGGTTCCTATGAAAGGAGAACATCAGGACTCCCTTAATGTGACTTAGATGATTCGCTTACCAAGGCCTCTCCCAAAAGACAGAGGTGCTCTATCATCCCACCTTGTCTGTCTTTTCTAAAGATAGGTCCTATCTCCTCCTCTCATCCACCTAAGCCCCCTGAAATGTGTTAACTGGTTAGAATAATATACTCCAGTAAATCTTCTGAGTCTTACAATTTTATACCCTGCATAAGAGGAATAAAAGGACTACATGCAGGGAGAAACAAACTGGAATTGACTTTTTCACTACATAAAAATTTGAATTTGAAAATAGAGTTTGAGAAGACAACCTCCCCTTTTATAAAATGCTTCAAACATGACTGAATCATGTAACAGGGATAATTTTAATTAAACATCATAAAAACTGGGTTTAGCATAGTATGATTTTTCCCCAGTAAGTAGACCAAAAACTCTCAGCTAGGAGTACAACCCCTTGGAAAATTAAGCTCTAATGAAAACCCAGCTACCACTCATTAGCCCTTTTAAGAAAGTGGTTTTTTCTTTAATTTTATAAAGGACCAAGTTTTGAGTCACCTGAAGTAACCAGGGAATAGCAGCAAGACA
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Task1_train_19688
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A variant affecting Chromosome 14, within the gene NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 21
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CTTAATTTTTACATAACGTTTATTGGAGCCATCTAGGCATATGTAAAATCTACTCTTACCGTAGCAAATGTTAGGAGAGATCTTCAGTTTTTTTGGAACATTATGCCAAGAGTTCATCTTTAGGCAAGCTTGGTATTCTTCTAGAAGCAGGATAGATGATAGATCTTTCCTAGCATTTTGAAGGAAACTTGAAAATCTAGTGATGATAAAATTGACCCTAGCAATCTTATATTAGTTAGAACACTTAGTTATGTTCTTGTTTCATGGAAACATAAACTTAAAAAGCTGTTATTTTACTTGACAGGTAATGTTAGAAGATCAATTTGAAACTTAGGACCTAACCCCCTTCATGTTATTGTAAAACCAGCATTGATATAAATAAGAGAACAAGGAAAGAGAATTTTAAAATAGCTTTTGTTTTTATTGGTATTTATTATTATTTGGCAGTAGTTTTTAGTTTTTGTAGGTGTCATAAAAATACAGAAAAGAGATAAAATTCTAGGATGATAGTTATAGCATTAGCAGAACTTTATGCAATAGAAGTTAACAATTAGCCATATTTCTAGATTTAGGTCCCCTCATTTGAAAATCTTGTTATCCATAGTAAATTTAATTGTTTTAATTTAGCTAAATTCTTCTGTTTGTGGTTTAAAAAATAGTTAAATTGGTCAAATTTCTCATTGACTGTTCCTCCCTTCTTAAATCTGATACCTAAATGCATTAAGCTTAAATTTTATATACCACCATTCTATGAAAAATCAAGTATCCTTCCTATTTTTCTCATTTATTTTACATAAAGCTGAGATTTTCATAGAGGCAGATATTAATCCCGTTTTTTCCTCTGAGGACACTGAGTCATACAGATATATATATGTATATTTAAACTGCAGTTTTAGTCAGTATAAAGTTGGAAACACAAATGTTAGATTTACCTTATTTTGTATGTTCATAGGAACCAGATAACAAAATTTAAAAAGTTTTTTTTTGTCTAGAAATAGGTAGGTAACATCGAAGATGAGTGATTGCTTCAGTTTTTCAAAAAATTTTGTCGAGGGGTTACGAGTTTTATTCTGTAGGATATGAAGAGAGTAGTAGGAAAGTTGTAAGACTTGATGAAACAACTCTAAGACATATCGTGTTAGGGTTCTGTTTACTTGTAGATGAGCAAAACCAGTAACAGATTGATTTCATCTATCAAAGGAGAAAGAAGAGAGGGGAAGAAGAAAAAAAAGAGACATATTTTTTAATAGCGGATTTTGTTTTCCTTTCCTTGGCTAAGCTGCTGATTAATTGACAGCCAGCGAAGAGCCCAGACAGGGTATCCTGTCCTTCAGCAGCTGGATGCATCATCAAAGAAAACAGTTTTAGTTGTTTCTGAATCCTCTAGAAGACGTTTTGTATTTAATTGTGACTTGCATATAAGAGGTTGTCTCTGTGTTAGGTGTGCCAGTATCCTTGTTAGTGCTTCCATCTCATTTATGCCAGATCTACATCAGAGTTTCTCACTTGCTTTATTATGGCCCTGTTTCCATGATCTTTTTTTATTTTGTCTTCTTTGGTGTGTTAGACAAGCTTTCCAAAAGTTAATGTTGTGTCTTTCTGGGGTTTTGCTTGCCATCACAAATCATTATTTTAAAATTGTTTACATGTAATTTGTTCTCAAACTCATGTTCAGATCAAAAAGGTCTTAGTCTGCTTGAGACTATATGAGAGACCTGAACTACAATATGTAAAGCATATAGGATGGATTTCTCTATCAGTTGTCTAGACGATATTAGTAAATCGTAAAAAGTATTGACCCTAAGCAATTTATGCTCTTTTACTTAACTGTTGCTTTGGAAGTTTAGGTTATGATTTGTAATATTTTGCCAATTTTATTTTCTGTACTCAGATTACTGTTGCTATATGCTTCACCTTTGAGAAGAGTGGGAACAATCTTATGGTAAAGTGTTTTTGTTTTGTTTTATATTTTTATTTATTTTTTTACAGTCCAAGGCCATTGGTTTGCTAGATGTGGATGTGTATGGACCTTCAGTTCCAAAGATGATGAATCTGAAAGGAAATCCGGAATTATCACAGAGTAAGTAAAGAAGGGATAAATATTATAATAATAGTTGCACTTTTATTAATACTTACTGGGTGTCAGACATTATGCTAGATGCAATGTATATTTTATGCACAATGTAGTGTAAGTCCTCACTTAAGTTAGTAGATTCTTGGAAACTGTTACTTTAAGTGAATAGATATGTTAATTGATATAAACAAGAGTTAAGTTCCTATGGCATATTTCTGGTCACAAAAACTTCACCAAACTTCTAAATAAAGACTCAAAACACTTCTAATATTAAACAAAGAAATAAATTTGGGCTATAAGTACATTTAAGAAAGATTAATAAAAACAATATAATTATTTACACAATTTTTAGTGAATCAGTGAGTGAAAGCAGTCATAGTGGTGGTGGGTTAAATCAAGGAATAGGTGTTTGCAAAGTGAAAATTGTAAGGAGCATCTCTTACCATCATGCAATTCAAGAGTAACCAATATGGCAGATCATTGAGCATTTTCTTACTGCATTGTTTATTGTGCATTTGTATGATTATCATATACTTTACTAGTTTTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCCCACCCTGCTGCCCAGGCTGGAATGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCGCCATGTTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCACCCTCAAAAAATGCTGGGATTACAGGTGTGAGCCACTACACCTGGCCCACTAATTTTTATTTGGCAATCATTTGTATCCATTCATTCATCTTCCAACCCACTTATTCTGGTTCAGGGTTGGGGGTGCCTGGAGCTATCCTGGCAGCTCAGGGCACAAGGCAGGAATCAACCCTGGAAAGGAGGCCATTCCATTGCAGGGTACACTCACACACCCACACTCATTCAGACTGGGACCATACAGACACGCCAGTTCATCTAATGTGCATAGCTTTGGGATGTGGAAGGAAACTAGAGTACCCGAATACCCACGCAGACCTGGGGAGAACATGCAAACTTTACACAAGACTGTGGTCGTGGCTTGAAATTGATTTTTTTCTTTATTAATGTTACAACAAAATGATGTTGAAAGAAAGCAATTTTATTGGAGGACCTGCTGTATAGTGATTCAGAAAGCAGACATGATAGATTCCGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAATGTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATTTGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTCGTAGATATGCGGCGTTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAACCTTGCAGTATAGTTTGAAGTCAGGTAGCGTGATGCCTCCAGCTTTGTTCTTTTGGCTCAGGATTGACTTGGTGATGCAGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTCCCTTTGGGAAGTATGGCCATTTTCATGATATTGATTCTTCCTACCCATGAGCACGGAAT
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CTTAATTTTTACATAACGTTTATTGGAGCCATCTAGGCATATGTAAAATCTACTCTTACCGTAGCAAATGTTAGGAGAGATCTTCAGTTTTTTTGGAACATTATGCCAAGAGTTCATCTTTAGGCAAGCTTGGTATTCTTCTAGAAGCAGGATAGATGATAGATCTTTCCTAGCATTTTGAAGGAAACTTGAAAATCTAGTGATGATAAAATTGACCCTAGCAATCTTATATTAGTTAGAACACTTAGTTATGTTCTTGTTTCATGGAAACATAAACTTAAAAAGCTGTTATTTTACTTGACAGGTAATGTTAGAAGATCAATTTGAAACTTAGGACCTAACCCCCTTCATGTTATTGTAAAACCAGCATTGATATAAATAAGAGAACAAGGAAAGAGAATTTTAAAATAGCTTTTGTTTTTATTGGTATTTATTATTATTTGGCAGTAGTTTTTAGTTTTTGTAGGTGTCATAAAAATACAGAAAAGAGATAAAATTCTAGGATGATAGTTATAGCATTAGCAGAACTTTATGCAATAGAAGTTAACAATTAGCCATATTTCTAGATTTAGGTCCCCTCATTTGAAAATCTTGTTATCCATAGTAAATTTAATTGTTTTAATTTAGCTAAATTCTTCTGTTTGTGGTTTAAAAAATAGTTAAATTGGTCAAATTTCTCATTGACTGTTCCTCCCTTCTTAAATCTGATACCTAAATGCATTAAGCTTAAATTTTATATACCACCATTCTATGAAAAATCAAGTATCCTTCCTATTTTTCTCATTTATTTTACATAAAGCTGAGATTTTCATAGAGGCAGATATTAATCCCGTTTTTTCCTCTGAGGACACTGAGTCATACAGATATATATATGTATATTTAAACTGCAGTTTTAGTCAGTATAAAGTTGGAAACACAAATGTTAGATTTACCTTATTTTGTATGTTCATAGGAACCAGATAACAAAATTTAAAAAGTTTTTTTTTGTCTAGAAATAGGTAGGTAACATCGAAGATGAGTGATTGCTTCAGTTTTTCAAAAAATTTTGTCGAGGGGTTACGAGTTTTATTCTGTAGGATATGAAGAGAGTAGTAGGAAAGTTGTAAGACTTGATGAAACAACTCTAAGACATATCGTGTTAGGGTTCTGTTTACTTGTAGATGAGCAAAACCAGTAACAGATTGATTTCATCTATCAAAGGAGAAAGAAGAGAGGGGAAGAAGAAAAAAAAGAGACATATTTTTTAATAGCGGATTTTGTTTTCCTTTCCTTGGCTAAGCTGCTGATTAATTGACAGCCAGCGAAGAGCCCAGACAGGGTATCCTGTCCTTCAGCAGCTGGATGCATCATCAAAGAAAACAGTTTTAGTTGTTTCTGAATCCTCTAGAAGACGTTTTGTATTTAATTGTGACTTGCATATAAGAGGTTGTCTCTGTGTTAGGTGTGCCAGTATCCTTGTTAGTGCTTCCATCTCATTTATGCCAGATCTACATCAGAGTTTCTCACTTGCTTTATTATGGCCCTGTTTCCATGATCTTTTTTTATTTTGTCTTCTTTGGTGTGTTAGACAAGCTTTCCAAAAGTTAATGTTGTGTCTTTCTGGGGTTTTGCTTGCCATCACAAATCATTATTTTAAAATTGTTTACATGTAATTTGTTCTCAAACTCATGTTCAGATCAAAAAGGTCTTAGTCTGCTTGAGACTATATGAGAGACCTGAACTACAATATGTAAAGCATATAGGATGGATTTCTCTATCAGTTGTCTAGACGATATTAGTAAATCGTAAAAAGTATTGACCCTAAGCAATTTATGCTCTTTTACTTAACTGTTGCTTTGGAAGTTTAGGTTATGATTTGTAATATTTTGCCAATTTTATTTTCTGTACTCAGATTACTGTTGCTATATGCTTCACCTTTGAGAAGAGTGGGAACAATCTTATGGTAAAGTGTTTTTGTTTTGTTTTATATTTTTATTTATTTTTTTACAGTCCAAGGCCATTGGTTTGCTAGATGTGGATGTGTATGGACCTTCAGTTCCAAAGATGATAAATCTGAAAGGAAATCCGGAATTATCACAGAGTAAGTAAAGAAGGGATAAATATTATAATAATAGTTGCACTTTTATTAATACTTACTGGGTGTCAGACATTATGCTAGATGCAATGTATATTTTATGCACAATGTAGTGTAAGTCCTCACTTAAGTTAGTAGATTCTTGGAAACTGTTACTTTAAGTGAATAGATATGTTAATTGATATAAACAAGAGTTAAGTTCCTATGGCATATTTCTGGTCACAAAAACTTCACCAAACTTCTAAATAAAGACTCAAAACACTTCTAATATTAAACAAAGAAATAAATTTGGGCTATAAGTACATTTAAGAAAGATTAATAAAAACAATATAATTATTTACACAATTTTTAGTGAATCAGTGAGTGAAAGCAGTCATAGTGGTGGTGGGTTAAATCAAGGAATAGGTGTTTGCAAAGTGAAAATTGTAAGGAGCATCTCTTACCATCATGCAATTCAAGAGTAACCAATATGGCAGATCATTGAGCATTTTCTTACTGCATTGTTTATTGTGCATTTGTATGATTATCATATACTTTACTAGTTTTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCCCACCCTGCTGCCCAGGCTGGAATGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCGCCATGTTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCACCCTCAAAAAATGCTGGGATTACAGGTGTGAGCCACTACACCTGGCCCACTAATTTTTATTTGGCAATCATTTGTATCCATTCATTCATCTTCCAACCCACTTATTCTGGTTCAGGGTTGGGGGTGCCTGGAGCTATCCTGGCAGCTCAGGGCACAAGGCAGGAATCAACCCTGGAAAGGAGGCCATTCCATTGCAGGGTACACTCACACACCCACACTCATTCAGACTGGGACCATACAGACACGCCAGTTCATCTAATGTGCATAGCTTTGGGATGTGGAAGGAAACTAGAGTACCCGAATACCCACGCAGACCTGGGGAGAACATGCAAACTTTACACAAGACTGTGGTCGTGGCTTGAAATTGATTTTTTTCTTTATTAATGTTACAACAAAATGATGTTGAAAGAAAGCAATTTTATTGGAGGACCTGCTGTATAGTGATTCAGAAAGCAGACATGATAGATTCCGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAATGTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATTTGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTCGTAGATATGCGGCGTTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAACCTTGCAGTATAGTTTGAAGTCAGGTAGCGTGATGCCTCCAGCTTTGTTCTTTTGGCTCAGGATTGACTTGGTGATGCAGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTCCCTTTGGGAAGTATGGCCATTTTCATGATATTGATTCTTCCTACCCATGAGCACGGAAT
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Task1_train_19689
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Gene NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 21
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TTGAATAGATGTGTTGACATATGAATGAATCTGTTTGACCCAATATCATCTACACTTTTTATTTTAAAAGTATGATTATAGGCCAGGCACGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAAGTGGGAGGATCACTTGAGCCTAGGAGTTTAAGACCAGCTTGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTGACCAGGCATGGTGGCACACGTCTATAGTCCCAGCTATTAGGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAGGTTGAGGTTGTAGTGAGCTGTGAGCATGCCACTGCATTCCAGCCTGGGTGATAGAGCGAGACCCTGTCACAAAAATGAATAAATAAATAAATAAGTAAAAGCATGATTATATGGAAAGGACATATTACATGTTATTAAGTTTTAAGGAGCACAATATGAAATTATATACAGTTTCCACTTAGGTTTAAAAAAATCAAGTCTTTGCATGTGTTCATTTAGCCATTCATTCCTTGAAAGAAAACGTCTTGAGCGTCTCCTGTTACCGTTTTATAGGAAGACAGATCATGAAACAACAGTAAATGAATGATAACCTTCTCTTCACTCACTGCTCTCTAGCCATATTGATCTTTCAATTTCTCAAAGTTAGCAAGCTCTTTTCTGTGCACATTTTACTGTCTTCACAGGGCTTCTTGTATTATAAAGCTGGTGATTATGTATTTATGAGGATAGTTATCTGCCTGATATCTCTGTCTCTGTATTGTAACTTCTGTGAGGGCAGGAATCATGATACCATTTAATCGTCAATACCTAGCTCAATGCCCAATACATAGTAGGTATTCAGTAAACATTTCTTGGGCAAATGAATGAACAGGTGATTAGGGGAAGTATGTAGTAGAAACACTTTAATGAGAGTTAGTGGAGCTTTCCCCAAAGAAATGAATTTTAAGCTGGGATCTGAAGAATGAGGAGAAATTAGGAAGTGAAGAAGAACAGGCAGAGTGTTCTGGAGCTTAAGCTTAGATATTATCCTAAAGGCAAGAGAAGAGTTTTAAACAAAATGTAGCACTATCAAACTTCCATTTTTCAGTGTTGTTAGGAACAGACTAGATAGGCAGTGCTGGAGCCAGAGAGGCTGGTTGGGAGGCTTTAATAATAACAGATGGTGGTGGCCTCACTTGGGTTCTTGGCAGTGGAGAAAGAGAGAAGTGGGTGTGTTTGAGAGATTTTTAGAAGGCAGAATAACTGATTGGGGATAGTGAAGGAAAAGGAAGAGTTATTGTCATTCCACGTTTCTGCTTTACAATTGAGAAGATCCTTGGGCCATTAATAGAGACTAGGGACTCAGAAGGAAGAAGTATCTGAGGAGTAAAGAACCTGAGGTACCCTTGAGACCTATCTAAATGAAGGCTGAGCAGTAAGGACTTGGTTATATAGGTGAATATTCTGGGTATAAATAAATGCCTTGAAAGAAAGAATCAAAATGTTAATAATATTGGGACTCAAGTTATATTAAATTTTTTATTATTAAGTTTTGGGTTTCATTATTAGTGTATTTTTGTGAAGGAAATATAATAAACTTAAAAAAATTATATTAGCATGGGAAATGCAAAATTTAAAAAAAGGTGACAAAAAGCTAATATCTTCTTTAGGCAAAATGTGGGCTACACCCAGTAAAAATAAGTGAATGGTCCTGAATAGAAGCCTACTGAGAAGTGAGTTCAACATTAACGTGTGTGTATGCGGATGAGTCATCTGGAAATTTAAACTTGCCATTCAAAGAAGGCCTCCTAGTGGAAGGGCCTGTCATTTATTCATCCATGTATCCTTAGGACTCAGCACAGTGCCTTGTACCTAGCAATGGCTCAAGCGATAGCTATGATTTTATATTTGTTATTAACACATTAATTTTGTTTACATCACTATTCAACATTGAATTTTTATACAATGATATAATCTATGTCATCTTTTTAGGTAGATTGGGGTCAACTGGACTACTTAGTTGTAGACATGCCACCAGGAACTGGAGATGTGCAGTTATCAGTCTCACAGAATATTCCTATAACAGGTAAATCTTCAAAGTTTAAAGTAATTTGTACTTTTTTTGATGTGTTGTTATTGCTATACCAAAAAACAAACTCCATGTTAGGCAAATATTTTGCCTTAAAAATATTCATTCACTTATAAATTTTTCATTAGAGATCAGAAGCATAAATTATTCAAAATATTACCAGAATAAGTATATTTATAAAACCATGAGACTTTTGTTACTAGGAAGAGTGAAGTCTGTGGTTCTTGTTCTTGGGAGAAAGAATTTGTCCAAGAGACAATTTTAGCAAAAAGAACAGAGAATTTATTGAAGAAAGTACATGCCAAGAAAGGAGCAGGCTGGAAAAACAGCAGTAGTAGCAGCAAGGGTTCAGTAGTAGCAGCAAGGGTTAAGTAGTAGCAGAGACAGTATGCTCTGAAAGAGGAGGCAGAATGGGCTGCTGGAAAGAAAATGAGCCAGCAGCCCTGAGAGTTCAACATTGCAGTTTTCATTGTGTTGGACTCTTTCTTTAAGTTCCTGCCTGTCTCAAGTCTCTGCCATTGTCTTTGGCTAGTTTCCCACTTCTGCTTTAAGTCCCTACCTTGTCCCTGACTAGTTCTTGCCACAGTTTTGTAGGATTCTCTTACTCTGAGTTGATGCACATGTGTGTGCCCAGTGTTGGATATGAAGTCTACTTAATGGCATTGTTGCTCCTTACCGCCACCCCAGGAAGGTGGTAAAGTGGTTAAATCTGTACTTACTGTGCCTGTGTATCTCTTAGGAATTTCCCCTTTGCCCTCTTTCTCTTCATATCAGCATGTACCTAGCTACATTCTGACAGGTTAACTGTAGAGTGAGCAATTACTGGGCATCTTAAGGGGTATTTCAGGATGTTCCTTTCTGCATAGGTATTTCCCCTCCTCTCTGTTCATACCTAGCATGCAGGTTTTGGGTAGTCTCTGGGATGTGAGATTTTCTAGTCCTCCTTTTCTCAGGGGCTCTCTCTCCTGCTCATGTCTAGCTATCTGTCTGCTCTAACACTTCACAGAGGTGGTAGTATAAATCTGTGTTCTAGAAAAGCAGTAGCATTTAAGTATTTTTTAGGCAGAACATGACTGGTTCACTGCTGTGCAGCATTTATACTACTGGTACATGACAGGCACTCGGTAAATATTTATTGAGTGAACACTGGATAAGAATAAATATTAGGGGCTGAGTGCAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCACATCTCTACTGAAAATACAAAAAGTTAGCCAGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCAGAGCTTGTAGTGAGCTGAGATAGTGCCATTGCGCTCCAGCCTGGGCGACAGAGTGAGACTCTTGTCTCAAAAGAAAAAAAATAAATAAATAAAAATAAATATTAGGAAAATTGGCTTTTTGGTAAATACAACTATGGGAGAATTTTATAGTCTGCTAATTAATATTAAAGTCAAGAAAGCAATAAACATAGCTTATATCAAATACATACTACTTCAATATGGTAATGCATATCTGTTTTATGATACGAAATTTAAATATTAGTACAGTAGTTACCCTTTATTTTGAATCTGTTTCTGAAGATTTTCCTAGATTCCACTAAAGAATAGTTGCAAATCTATAAATAAAAGATTTCTGGGAAAATAATGGAATTTTAAAGTATCTTTGCTAATTAGTTATATACTGATTACCAAACAATATCATTGATATTTAATGATCAAAAGTTTAGAATCTAAGTTTTTGACAAAATATACGTGTTGTTTGGAAATATCAGTATAGCCTCATTAATAGAGATACTTTTGCTGTTTTAACATATTTGTAATCTTAATTGAGTCTGAGACTTTTTCTTTGATAAGGCAGGCTGTAAAATATGAGATGGGAGTAAAATGATATATGAAAATAATTCATTTTTTCATA
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TTGAATAGATGTGTTGACATATGAATGAATCTGTTTGACCCAATATCATCTACACTTTTTATTTTAAAAGTATGATTATAGGCCAGGCACGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAAGTGGGAGGATCACTTGAGCCTAGGAGTTTAAGACCAGCTTGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTGACCAGGCATGGTGGCACACGTCTATAGTCCCAGCTATTAGGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAGGTTGAGGTTGTAGTGAGCTGTGAGCATGCCACTGCATTCCAGCCTGGGTGATAGAGCGAGACCCTGTCACAAAAATGAATAAATAAATAAATAAGTAAAAGCATGATTATATGGAAAGGACATATTACATGTTATTAAGTTTTAAGGAGCACAATATGAAATTATATACAGTTTCCACTTAGGTTTAAAAAAATCAAGTCTTTGCATGTGTTCATTTAGCCATTCATTCCTTGAAAGAAAACGTCTTGAGCGTCTCCTGTTACCGTTTTATAGGAAGACAGATCATGAAACAACAGTAAATGAATGATAACCTTCTCTTCACTCACTGCTCTCTAGCCATATTGATCTTTCAATTTCTCAAAGTTAGCAAGCTCTTTTCTGTGCACATTTTACTGTCTTCACAGGGCTTCTTGTATTATAAAGCTGGTGATTATGTATTTATGAGGATAGTTATCTGCCTGATATCTCTGTCTCTGTATTGTAACTTCTGTGAGGGCAGGAATCATGATACCATTTAATCGTCAATACCTAGCTCAATGCCCAATACATAGTAGGTATTCAGTAAACATTTCTTGGGCAAATGAATGAACAGGTGATTAGGGGAAGTATGTAGTAGAAACACTTTAATGAGAGTTAGTGGAGCTTTCCCCAAAGAAATGAATTTTAAGCTGGGATCTGAAGAATGAGGAGAAATTAGGAAGTGAAGAAGAACAGGCAGAGTGTTCTGGAGCTTAAGCTTAGATATTATCCTAAAGGCAAGAGAAGAGTTTTAAACAAAATGTAGCACTATCAAACTTCCATTTTTCAGTGTTGTTAGGAACAGACTAGATAGGCAGTGCTGGAGCCAGAGAGGCTGGTTGGGAGGCTTTAATAATAACAGATGGTGGTGGCCTCACTTGGGTTCTTGGCAGTGGAGAAAGAGAGAAGTGGGTGTGTTTGAGAGATTTTTAGAAGGCAGAATAACTGATTGGGGATAGTGAAGGAAAAGGAAGAGTTATTGTCATTCCACGTTTCTGCTTTACAATTGAGAAGATCCTTGGGCCATTAATAGAGACTAGGGACTCAGAAGGAAGAAGTATCTGAGGAGTAAAGAACCTGAGGTACCCTTGAGACCTATCTAAATGAAGGCTGAGCAGTAAGGACTTGGTTATATAGGTGAATATTCTGGGTATAAATAAATGCCTTGAAAGAAAGAATCAAAATGTTAATAATATTGGGACTCAAGTTATATTAAATTTTTTATTATTAAGTTTTGGGTTTCATTATTAGTGTATTTTTGTGAAGGAAATATAATAAACTTAAAAAAATTATATTAGCATGGGAAATGCAAAATTTAAAAAAAGGTGACAAAAAGCTAATATCTTCTTTAGGCAAAATGTGGGCTACACCCAGTAAAAATAAGTGAATGGTCCTGAATAGAAGCCTACTGAGAAGTGAGTTCAACATTAACGTGTGTGTATGCGGATGAGTCATCTGGAAATTTAAACTTGCCATTCAAAGAAGGCCTCCTAGTGGAAGGGCCTGTCATTTATTCATCCATGTATCCTTAGGACTCAGCACAGTGCCTTGTACCTAGCAATGGCTCAAGCGATAGCTATGATTTTATATTTGTTATTAACACATTAATTTTGTTTACATCACTATTCAACATTGAATTTTTATACAATGATATAATCTATGTCATCTTTTTAGGTAGATTGGGGTCAACTGGACTACTTAGTTGTAGACATGCCACCAGGAACTGGAGATGTGCAGTTCTCAGTCTCACAGAATATTCCTATAACAGGTAAATCTTCAAAGTTTAAAGTAATTTGTACTTTTTTTGATGTGTTGTTATTGCTATACCAAAAAACAAACTCCATGTTAGGCAAATATTTTGCCTTAAAAATATTCATTCACTTATAAATTTTTCATTAGAGATCAGAAGCATAAATTATTCAAAATATTACCAGAATAAGTATATTTATAAAACCATGAGACTTTTGTTACTAGGAAGAGTGAAGTCTGTGGTTCTTGTTCTTGGGAGAAAGAATTTGTCCAAGAGACAATTTTAGCAAAAAGAACAGAGAATTTATTGAAGAAAGTACATGCCAAGAAAGGAGCAGGCTGGAAAAACAGCAGTAGTAGCAGCAAGGGTTCAGTAGTAGCAGCAAGGGTTAAGTAGTAGCAGAGACAGTATGCTCTGAAAGAGGAGGCAGAATGGGCTGCTGGAAAGAAAATGAGCCAGCAGCCCTGAGAGTTCAACATTGCAGTTTTCATTGTGTTGGACTCTTTCTTTAAGTTCCTGCCTGTCTCAAGTCTCTGCCATTGTCTTTGGCTAGTTTCCCACTTCTGCTTTAAGTCCCTACCTTGTCCCTGACTAGTTCTTGCCACAGTTTTGTAGGATTCTCTTACTCTGAGTTGATGCACATGTGTGTGCCCAGTGTTGGATATGAAGTCTACTTAATGGCATTGTTGCTCCTTACCGCCACCCCAGGAAGGTGGTAAAGTGGTTAAATCTGTACTTACTGTGCCTGTGTATCTCTTAGGAATTTCCCCTTTGCCCTCTTTCTCTTCATATCAGCATGTACCTAGCTACATTCTGACAGGTTAACTGTAGAGTGAGCAATTACTGGGCATCTTAAGGGGTATTTCAGGATGTTCCTTTCTGCATAGGTATTTCCCCTCCTCTCTGTTCATACCTAGCATGCAGGTTTTGGGTAGTCTCTGGGATGTGAGATTTTCTAGTCCTCCTTTTCTCAGGGGCTCTCTCTCCTGCTCATGTCTAGCTATCTGTCTGCTCTAACACTTCACAGAGGTGGTAGTATAAATCTGTGTTCTAGAAAAGCAGTAGCATTTAAGTATTTTTTAGGCAGAACATGACTGGTTCACTGCTGTGCAGCATTTATACTACTGGTACATGACAGGCACTCGGTAAATATTTATTGAGTGAACACTGGATAAGAATAAATATTAGGGGCTGAGTGCAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCACATCTCTACTGAAAATACAAAAAGTTAGCCAGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCAGAGCTTGTAGTGAGCTGAGATAGTGCCATTGCGCTCCAGCCTGGGCGACAGAGTGAGACTCTTGTCTCAAAAGAAAAAAAATAAATAAATAAAAATAAATATTAGGAAAATTGGCTTTTTGGTAAATACAACTATGGGAGAATTTTATAGTCTGCTAATTAATATTAAAGTCAAGAAAGCAATAAACATAGCTTATATCAAATACATACTACTTCAATATGGTAATGCATATCTGTTTTATGATACGAAATTTAAATATTAGTACAGTAGTTACCCTTTATTTTGAATCTGTTTCTGAAGATTTTCCTAGATTCCACTAAAGAATAGTTGCAAATCTATAAATAAAAGATTTCTGGGAAAATAATGGAATTTTAAAGTATCTTTGCTAATTAGTTATATACTGATTACCAAACAATATCATTGATATTTAATGATCAAAAGTTTAGAATCTAAGTTTTTGACAAAATATACGTGTTGTTTGGAAATATCAGTATAGCCTCATTAATAGAGATACTTTTGCTGTTTTAACATATTTGTAATCTTAATTGAGTCTGAGACTTTTTCTTTGATAAGGCAGGCTGTAAAATATGAGATGGGAGTAAAATGATATATGAAAATAATTCATTTTTTCATA
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Task1_train_19690
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This genomic variant is located on Chromosome 14, within the NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 21
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TGGAGATAGTACTGAATTCCCAAAACACAGCGTGATTTATTTTTTGTGATAGTGTGCATCAGCAAAAGGGCATATATTAGATGCTTGGAAAATGCTTTGCTATAGATTTATGTCTTTTTACTATTTGTCTTCATATATAATTATTGGGGGCAACTTTAGTTTTTTCTATTTCTCTTTTCAGAAAGAATAACAATTTTTTCGCCTTCTTATCTATATGTTTCATTGTGGACTATCAGTACTGTTCTTCATTTAAAATGCAAATGTTCTAATAATCTACAATCATAACCTTATGGTAGAACTGATACAGACATTGTAATCTCTAAGCCTCTGAAAATAGTGTTCTGCATTTTTATTGTAATCTCTAAGCCTCTGAAAATAGTGTTCTGCATTTTTATTCTAGAAGAGAGCTACTGCTCCTCATCAATGAGAGAGTGGGATTAAAAGGAACATGAGTAAGGATTATATTTGCAGAGCCTATCTATTTATTCAACAGTATTGTTGAATAATAACATTTCTTAAGTATCATCTTCCCTCAATATATGTGGGGGATTGGTTCCAGAATCGCCCTCCCCCCGCCACTGCATATTCCAAAATTCATGCATACTGAAGTCCCACAGTTGCTTCTAGGACATCAGCCATTCCGGTACTTGGGTTTTGTGGCGGGCAAATACTATATTTTTTATCTGTGGTTGGTTCAAAAAAAATTCACACATAAGTGGACCCCCCACAGTTCAAACTCATGTTCAAGGTTTAGCTGTATCTATTTTGTAGCAGAATCTAGGGAAACTTAGAAAGAGAATGACCTTTTCTATGAAACTTAATTTTGTTTCAGACAATAACATTCTGATAAGAGCTGAGTTTTACTCTTTTGTTAGCACTGTCAGTTTTCTCAACCATAGAATGAGAATGATAAAATAACCATCTCGGCTGGGCACGGTAGCTCACTCCTCTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGTTCGAGACCAGCCTGACCAACAGGAAGAAACCCTGTCGCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCGGCCTGGGCAACAAGAGCGAAACTCCATCTCAGAAACAAACAAAACAAAAAACAAAATAACCATCTCATAAAGTTCTTGTGAAGAGTAAATAAGATAGTACATTTAAAGTACTTAACCCAGCACCTGGCATACAACAAACACTTCGTTATTTTAGATTTACTGTGAGACTTCGTCCAAAGTTACCTCTTAGGTATTTATTTTCCTCTGTTCCTCCCTTCTTATTTTTCTCCAAATTGTCATCAAAGATAAATTTCTAAAACAAAAATCTGATTGTATAACTACCTCTTTGATACCATCTTTTCAGCTTTGAAAACCTTTAGTGGTTTCCTGTTGTCTGAAGAGGAATGCCTCAAATACATGGATGGTATTCAGCATCTTCCCACGTGGCCCTAGCCTTCCTTCCCAAACCATCTTCTGCCTTGACCACCCACTGGGTTGCAGCCCAAGTAGGCCACACAGTTTTATTTTGCTACCTTGGCTTGTTGTCTTCCTTCTGTCTAGAATTCCTGCTGTGGGCCTCACCTCCTCATCACCCCACAACCTGAAGAAACAACTGTCTATGGGAAACTCAAAGATTTCTCTTCTTTCTAGGCAGAATTTTTGGTTCCTGTTCATTCATCTCTTTTTAGCATTTATTATGATATCAAAGGTAATTCTATATGTCTTGCTCTCTTACTAGCTCATGAGTTCCTTCAGAGCAGAGGCCATAGTTTATTCATCATTGTGATAACATTGATGAGTGCCACTAGAACTCAGTAGGCACTCTGTAAAAATTTGTTGAAGTAATGTATTAATATTTGGTTTAATTTTATTTTGATTTCAGTGTGTTTTTATTCTAGGTCCTTGGCCTTGTCCAAAACATGAGTGTTTTCCAGTGTCCAAAATGTAAACACAAAACTCATATTTTTGGTGCTGATGGTGCAAGGAAACTAGCACAGACCCTTGGTCTTGAAGTTCTAGGTAAGACTGTGGGATGTTCTTTTGTAGAAGAAGTGGCAGAAGAGAAAGTGGGGATGAGGCTTGATGATTAAGAGTGTCTCAGAGGCCGGGCACGGAGTCTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGACAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAGACCCTGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCTGGAGGCGGAGCTTGCAGTGAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCAAAAAAAAAACAAAAAACAAAAAACAGTGTCTCTGAAAATGATGAGTTGCTTTTGGCTTTGTGTTTTAAATTAATATAGCACAGTTCTATGTGTTAACCTTTCTTTGGCTTTTTTGAATAGGTTTGTTCTGTCAACTATGATAATTTCTATTTTAAATAAAAACTGTCTATAACTTAAATTTGAGAATAGAGTTTTGTAGTCCAAGTACTGTAATTTGAAGCCATATTTTAAATGATACTCATCAGTGTGTTTGCTAAGTTGGGTGTACATCTCTCAGTAGAAACAGGTACATTAAAATGTCTGTTCCGTATGTTGTAAAAACCTCTAAAAGTGTTCGTTCTTAGTGCATATGTAAAAATGCCTTCCTGATTAATTCTTTGTTAGTCTTTCTGCTTTAGAATGGCAGTATTTACTGTTTTCTGTAATATTTAATGTGTTTGATATGTCTTTAAAATATGGCACCTGAAATTTACATTGTACGCACTGTTCATGGCACTGAACTGAAGAGTTCATTAGTGCTGTGAGGAAAACTAAAATCATGTGTTAAATAAGCAAAACACAGGTTTTGGATAAAACATGATGTTCCAAAAATCCACAGGCAACTTAACAGACTTTTTAGAAAACATGTTTTGATATTCTAATTGTGAATGGGTTTCTGTTCTTGCCAAAGGCAGGTGTTAGATGCTGAATAGGGAAGGCATAAAGTGAATTATTAGACTTAGGTAGTTAAAAATTAAGATCCCTAGAGATTAAGGAATTTCAAAACATTCTCTGTTATAATTAAGTTTCTAAAAGTTGATGTTAAATATATTATTGTTATGCATTTGCACTATAGCAGCCACTACAATACCAGGTGAATACTAATGATATATTTTGATACATTGCTATAATTATAGCCACTAATTATATTCTGCAACTGTTTTTCATTTAACCCAGAAAGTTCAATTTTCCAAATCTGCATAATAACAGATTGACATTCGCTTATATAATAAAGTAAATGTGTAATTATAATGGCATTATTGAATTATACTGACAACATTGTAATTTCCTAACTTACAAATGAGCTGAACAATTTCCTAAGTCAGTTATTTAGAATTTGAAACATTTCATTGAGAAACAATGGTATGTATGGAAGTTACATTTTAACCAATGGCTCACAGATGTACAATTACCCTAAAAATGTATCAAAAACACTGACTACTGATCACAAAAATTTGATGGTGCCCTAGACTGCTATGTCTGACAGTGTTAGGGGAAAAATCATTTAGAATTCCTCGTTAGGGCACGTCCCCTCCTTTTAATGTAGTCATGGGTCCCATGGTGTCTCCCATGAAGTGGAGCAGGGCTTCAATTATGAAGAGGTTGGAATTGGGAATGAGGAACTGAAATCAGGGAAAAAGCTTTCACAGCTCTGGCCTCTTGGCCAGTTGAACCTCCTGGGAACCCTTATTTGTCCTTTACTGACTCCCTGGCAGACTCTTAATTCAGTGGGTCGTGTTTTAAATGATTATTTGGTACGATAGCTCTTGAGAACCTTATCTGTATTTACCTACAGGGACAGTTTATGCATAGTAGTTAAGGTCTCAGACCATCTCA
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TGGAGATAGTACTGAATTCCCAAAACACAGCGTGATTTATTTTTTGTGATAGTGTGCATCAGCAAAAGGGCATATATTAGATGCTTGGAAAATGCTTTGCTATAGATTTATGTCTTTTTACTATTTGTCTTCATATATAATTATTGGGGGCAACTTTAGTTTTTTCTATTTCTCTTTTCAGAAAGAATAACAATTTTTTCGCCTTCTTATCTATATGTTTCATTGTGGACTATCAGTACTGTTCTTCATTTAAAATGCAAATGTTCTAATAATCTACAATCATAACCTTATGGTAGAACTGATACAGACATTGTAATCTCTAAGCCTCTGAAAATAGTGTTCTGCATTTTTATTGTAATCTCTAAGCCTCTGAAAATAGTGTTCTGCATTTTTATTCTAGAAGAGAGCTACTGCTCCTCATCAATGAGAGAGTGGGATTAAAAGGAACATGAGTAAGGATTATATTTGCAGAGCCTATCTATTTATTCAACAGTATTGTTGAATAATAACATTTCTTAAGTATCATCTTCCCTCAATATATGTGGGGGATTGGTTCCAGAATCGCCCTCCCCCCGCCACTGCATATTCCAAAATTCATGCATACTGAAGTCCCACAGTTGCTTCTAGGACATCAGCCATTCCGGTACTTGGGTTTTGTGGCGGGCAAATACTATATTTTTTATCTGTGGTTGGTTCAAAAAAAATTCACACATAAGTGGACCCCCCACAGTTCAAACTCATGTTCAAGGTTTAGCTGTATCTATTTTGTAGCAGAATCTAGGGAAACTTAGAAAGAGAATGACCTTTTCTATGAAACTTAATTTTGTTTCAGACAATAACATTCTGATAAGAGCTGAGTTTTACTCTTTTGTTAGCACTGTCAGTTTTCTCAACCATAGAATGAGAATGATAAAATAACCATCTCGGCTGGGCACGGTAGCTCACTCCTCTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGTTCGAGACCAGCCTGACCAACAGGAAGAAACCCTGTCGCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCGGCCTGGGCAACAAGAGCGAAACTCCATCTCAGAAACAAACAAAACAAAAAACAAAATAACCATCTCATAAAGTTCTTGTGAAGAGTAAATAAGATAGTACATTTAAAGTACTTAACCCAGCACCTGGCATACAACAAACACTTCGTTATTTTAGATTTACTGTGAGACTTCGTCCAAAGTTACCTCTTAGGTATTTATTTTCCTCTGTTCCTCCCTTCTTATTTTTCTCCAAATTGTCATCAAAGATAAATTTCTAAAACAAAAATCTGATTGTATAACTACCTCTTTGATACCATCTTTTCAGCTTTGAAAACCTTTAGTGGTTTCCTGTTGTCTGAAGAGGAATGCCTCAAATACATGGATGGTATTCAGCATCTTCCCACGTGGCCCTAGCCTTCCTTCCCAAACCATCTTCTGCCTTGACCACCCACTGGGTTGCAGCCCAAGTAGGCCACACAGTTTTATTTTGCTACCTTGGCTTGTTGTCTTCCTTCTGTCTAGAATTCCTGCTGTGGGCCTCACCTCCTCATCACCCCACAACCTGAAGAAACAACTGTCTATGGGAAACTCAAAGATTTCTCTTCTTTCTAGGCAGAATTTTTGGTTCCTGTTCATTCATCTCTTTTTAGCATTTATTATGATATCAAAGGTAATTCTATATGTCTTGCTCTCTTACTAGCTCATGAGTTCCTTCAGAGCAGAGGCCATAGTTTATTCATCATTGTGATAACATTGATGAGTGCCACTAGAACTCAGTAGGCACTCTGTAAAAATTTGTTGAAGTAATGTATTAATATTTGGTTTAATTTTATTTTGATTTCAGTGTGTTTTTATTCTAGGTCCTTGGCCTTGTCCAAAACATGAGTGTTTTGCAGTGTCCAAAATGTAAACACAAAACTCATATTTTTGGTGCTGATGGTGCAAGGAAACTAGCACAGACCCTTGGTCTTGAAGTTCTAGGTAAGACTGTGGGATGTTCTTTTGTAGAAGAAGTGGCAGAAGAGAAAGTGGGGATGAGGCTTGATGATTAAGAGTGTCTCAGAGGCCGGGCACGGAGTCTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGACAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAGACCCTGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCTGGAGGCGGAGCTTGCAGTGAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCAAAAAAAAAACAAAAAACAAAAAACAGTGTCTCTGAAAATGATGAGTTGCTTTTGGCTTTGTGTTTTAAATTAATATAGCACAGTTCTATGTGTTAACCTTTCTTTGGCTTTTTTGAATAGGTTTGTTCTGTCAACTATGATAATTTCTATTTTAAATAAAAACTGTCTATAACTTAAATTTGAGAATAGAGTTTTGTAGTCCAAGTACTGTAATTTGAAGCCATATTTTAAATGATACTCATCAGTGTGTTTGCTAAGTTGGGTGTACATCTCTCAGTAGAAACAGGTACATTAAAATGTCTGTTCCGTATGTTGTAAAAACCTCTAAAAGTGTTCGTTCTTAGTGCATATGTAAAAATGCCTTCCTGATTAATTCTTTGTTAGTCTTTCTGCTTTAGAATGGCAGTATTTACTGTTTTCTGTAATATTTAATGTGTTTGATATGTCTTTAAAATATGGCACCTGAAATTTACATTGTACGCACTGTTCATGGCACTGAACTGAAGAGTTCATTAGTGCTGTGAGGAAAACTAAAATCATGTGTTAAATAAGCAAAACACAGGTTTTGGATAAAACATGATGTTCCAAAAATCCACAGGCAACTTAACAGACTTTTTAGAAAACATGTTTTGATATTCTAATTGTGAATGGGTTTCTGTTCTTGCCAAAGGCAGGTGTTAGATGCTGAATAGGGAAGGCATAAAGTGAATTATTAGACTTAGGTAGTTAAAAATTAAGATCCCTAGAGATTAAGGAATTTCAAAACATTCTCTGTTATAATTAAGTTTCTAAAAGTTGATGTTAAATATATTATTGTTATGCATTTGCACTATAGCAGCCACTACAATACCAGGTGAATACTAATGATATATTTTGATACATTGCTATAATTATAGCCACTAATTATATTCTGCAACTGTTTTTCATTTAACCCAGAAAGTTCAATTTTCCAAATCTGCATAATAACAGATTGACATTCGCTTATATAATAAAGTAAATGTGTAATTATAATGGCATTATTGAATTATACTGACAACATTGTAATTTCCTAACTTACAAATGAGCTGAACAATTTCCTAAGTCAGTTATTTAGAATTTGAAACATTTCATTGAGAAACAATGGTATGTATGGAAGTTACATTTTAACCAATGGCTCACAGATGTACAATTACCCTAAAAATGTATCAAAAACACTGACTACTGATCACAAAAATTTGATGGTGCCCTAGACTGCTATGTCTGACAGTGTTAGGGGAAAAATCATTTAGAATTCCTCGTTAGGGCACGTCCCCTCCTTTTAATGTAGTCATGGGTCCCATGGTGTCTCCCATGAAGTGGAGCAGGGCTTCAATTATGAAGAGGTTGGAATTGGGAATGAGGAACTGAAATCAGGGAAAAAGCTTTCACAGCTCTGGCCTCTTGGCCAGTTGAACCTCCTGGGAACCCTTATTTGTCCTTTACTGACTCCCTGGCAGACTCTTAATTCAGTGGGTCGTGTTTTAAATGATTATTTGGTACGATAGCTCTTGAGAACCTTATCTGTATTTACCTACAGGGACAGTTTATGCATAGTAGTTAAGGTCTCAGACCATCTCA
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Task1_train_19691
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A change on Chromosome 14 affects gene ARHGAP5 (Rho GTPase activating protein 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Pulmonary artery atresia
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TTAAGGAATAAGTTTTAAGGAACCCTATAATGTAAAAAGCAGGTTGTTTTGTATTTTTAAGTTGTGAGGGAGTTGCAAGTCAACTAGTACATTTTAGTTATCACCAGCATCGCCTCCAGTGACAGAAGGCAGGAAAATTAAGGGAGTGGAAAGGACTAGCTGTTTCTTCAAACTCATAGGAAGGGGTAATTAGAGGTAAAATGCACATTTGGTTTAATAGAGGTTTATTTTAAAGTTTGTGAGACATTATGTTAGATTTTGTATTTTGTTAGGTTTGCCTTAAATTTTGAGGTCATCTTGTATTTATAACAGTAAATCATAAACTGTTTATGTAGTTACCTCTTAAAATACATGTATCATTATTATTAATTTGTATGGTGCTTTGTTGTAAACATCTTTATTGTAATTCAGTGTATGTAATTTGTGATTAAGATTTGTTCTTTTTCTCCCCTCTCTATAGGAAGATGATCCCTATGATCTTGAAGATGTTTCTGCACAGAAATGAGGGAAATACAAAGAACCAAATACAGTTCTGAAATTTGGGATCTGTATTTTGAGATGATTTTATTTTCAGAATGAGAAGCATATCTGGTTACCTTTATGAATGTAGAGACATGAGAAGAGAGTTATGATGGCAAAAAACAAAGAGCCTCGTCCCCCATCCTATACCATCAGTATAGTTGGACTCTCTGGGACTGAAAAAGACAAAGGTAACTGTGGAGTTGGAAAGTCTTGTTTGTGCAATAGATTTGTACGCTCAAAAGCAGATGAATATTATCCAGAGCATACTTCTGTGCTTAGCACCATTGACTTTGGAGGACGAGTAGTAAACAATGATCACTTTTTGTACTGGGGTGACATAATACAAAATAGTGAAGATGGAGTAGAATGCAAAATTCATGTCATTGAACAAACAGAGTTCATTGATGACCAGACTTTCTTGCCTCATCGGAGTACGAATTTGCAACCATATATAAAACGTGCAGCTGCATCTAAATTGCAGTCAGCAGAAAAACTAATGTACATTTGCACTGATCAGCTAGGCTTAGAACAAGACTTTGAACAGAAGCAAATGCCTGAAGGGAAGCTCAACGTAGATGGATTTTTATTATGCATTGATGTAAGTCAAGGATGCAATAGGAAGTTTGATGATCAACTTAAATTTGTGAATAACCTTTTTGTCCAGTTATCAAAATCAAAAAAACCTGTAATAATAGCAGCAACTAAATGTGATGAATGCGTGGATCATTATCTTAGAGAAGTTCAGGCATTTGCTTCAAATAAAAAGAACCTTCTTGTAGTGGAAACATCAGCACGATTTAATGTCAACATTGAAACATGTTTTACTGCACTGGTACAAATGTTGGATAAAACTCGTAGCAAGCCTAAAATTATTCCCTATTTGGATGCTTATAAAACACAGAGACAACTTGTTGTCACAGCAACAGATAAGTTTGAAAAACTTGTGCAGACTGTGAGAGATTATCATGCAACTTGGAAAACTGTTAGTAATAAATTAAAAAATCATCCTGATTATGAAGAATACATCAACTTAGAGGGAACAAGAAAGGCCAGAAATACATTCTCAAAACATATAGAACAACTTAAACAGGAACATATAAGAAAAAGGAGAGAAGAGTATATAAATACTTTACCAAGAGCTTTTAACACTCTTTTGCCAAATCTAGAAGAGATTGAACATTTGAATTGGTCAGAAGCTTTGAAGTTAATGGAAAAGAGAGCAGATTTCCAGTTATGTTTTGTGGTGCTAGAAAAAACTCCTTGGGATGAAACTGACCATATAGACAAAATTAATGATAGGCGGATTCCATTTGACCTCCTGAGCACTTTAGAAGCTGAAAAAGTCTATCAGAACCATGTACAGCATCTGATATCCGAGAAGAGGAGGGTGGAAATGAAGGAAAAATTCAAAAAGACTTTGGAAAAAATTCAATTCATTTCACCAGGGCAGCCATGGGAGGAAGTTATGTGCTTTGTTATGGAGGATGAAGCCTACAAATATATCACTGAGGCTGATAGCAAAGAGGTATATGGTAGGCATCAGCGAGAAATAGTTGAAAAAGCCAAAGAAGAGTTTCAAGAAATGCTTTTTGAGCATTCTGAACTTTTTTATGATTTAGATCTTAATGCAACACCTAGTTCAGATAAAATGAGTGAAATTCATACAGTTCTGAGTGAAGAACCTAGATATAAAGCTTTACAGAAACTTGCACCTGATAGGGAATCCCTTCTACTTAAGCATATAGGATTTGTTTATCATCCCACTAAAGAAACATGTCTTAGTGGCCAAAATTGTACAGACATTAAAGTGGAGCAGTTACTTGCTAGTAGTCTTTTACAGTTGGATCATGGCCGCTTAAGATTATATCACGATAGTACCAATATAGATAAAGTTAACCTTTTTATTTTAGGGAAGGATGGCCTTGCCCAAGAACTAGCAAATGAGATAAGGACACAATCCACTGATGATGAGTATGCCTTAGATGGAAAAATTTATGAACTTGATCTTCGGCCGGTTGATGCCAAATCGCCTTACTTTTTGAGTCAGTTATGGACTGCCGCCTTTAAACCACATGGGTGCTTCTGTGTATTTAATTCCATTGAGTCATTGAGTTTTATTGGGGAATTTATTGGGAAAATAAGAACTGAAGCTTCTCAGATCAGAAAAGATAAATACATGGCTAATCTTCCATTTACATTAATTCTGGCTAATCAGAGAGATTCCATTAGTAAGAATCTACCAATTCTCAGGCACCAAGGGCAGCAGTTGGCAAACAAGTTGCAATGTCCTTTTGTAGATGTACCTGCTGGTACATATCCTCGTAAATTTAATGAAACCCAAATAAAGCAAGCTCTCAGAGGAGTATTGGAATCAGTTAAACACAATTTGGATGTGGTGAGCCCAATTCCTGCCAATAAGGACTTATCAGAAGCTGACTTGAGAATTGTCATGTGCGCCATGTGTGGAGATCCATTTAGTGTGGATCTTATTCTTTCACCCTTCCTTGATTCTCATTCTTGCAGTGCTGCTCAAGCTGGACAGAATAATTCCCTAATGCTTGATAAAATCATTGGTGAAAAAAGGAGGCGAATACAGATCACAATATTATCATACCACTCTTCAATTGGAGTAAGAAAAGATGAACTAGTTCATGGGTATATATTAGTTTACTCTGCAAAACGGAAAGCTTCGATGGGAATGCTTCGAGCATTTCTATCAGAAGTTCAAGACACCATTCCTGTACAGCTGGTGGCAGTTACTGACAGCCAAGCAGATTTTTTTGAAAATGAGGCTATCAAAGAGTTAATGACTGAAGGAGAACACATTGCAACTGAGATCACTGCTAAATTTACAGCACTGTATTCTTTATCTCAGTATCATCGGCAAACTGAGGTCTTTACTCTGTTTTTTAGTGATGTTCTAGAGAAAAAAAATATGATAGAAAATTCTTATTTGTCTGATAATACAAGGGAATCAACCCATCAAAGTGAAGATGTTTTTCTACCATCTCCCAGAGACTGTTTTCCCTATAATAACTACCCTGATTCAGATGATGACACAGAAGCACCACCTCCTTATAGTCCAATTGGGGATGATGTACAGTTGCTTCCAACACCTAGTGACCGTTCCAGATATAGATTAGATTTGGAAGGAAATGAGTATCCTATTCATAGTACCCCAAACTGTCATGACCATGAACGCAACCATAAAGTGCCTCCACCTATTAAACCTAAACCAGTTGTACCTAAGACAAATGTGAAAAAACTCGATCCAAACCTTTTAAAAACAATTGAAGCTGGTATTGGTAAAAATCCAAGAAAGCAGACTTCCCGGGTGCCTTTGGCACATCCTGAAGATATGGATCCTTCAGATAACTATGCGGAACCCATTGATACAATTTTCAAACAGAAGGGCTATTCTGATGAGATTTATGTTGTCCCAGATGATAGTCAAAATCGTATTAAAATTCGAAACTCATTTGTAAATAACACCCAAGGAGATGAAGAAAATGGGTTTTCTGATAGAACCTCAAAAAGTCATGGGGAACGGAGGCCTTCAAAATACAAATATAAA
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TTAAGGAATAAGTTTTAAGGAACCCTATAATGTAAAAAGCAGGTTGTTTTGTATTTTTAAGTTGTGAGGGAGTTGCAAGTCAACTAGTACATTTTAGTTATCACCAGCATCGCCTCCAGTGACAGAAGGCAGGAAAATTAAGGGAGTGGAAAGGACTAGCTGTTTCTTCAAACTCATAGGAAGGGGTAATTAGAGGTAAAATGCACATTTGGTTTAATAGAGGTTTATTTTAAAGTTTGTGAGACATTATGTTAGATTTTGTATTTTGTTAGGTTTGCCTTAAATTTTGAGGTCATCTTGTATTTATAACAGTAAATCATAAACTGTTTATGTAGTTACCTCTTAAAATACATGTATCATTATTATTAATTTGTATGGTGCTTTGTTGTAAACATCTTTATTGTAATTCAGTGTATGTAATTTGTGATTAAGATTTGTTCTTTTTCTCCCCTCTCTATAGGAAGATGATCCCTATGATCTTGAAGATGTTTCTGCACAGAAATGAGGGAAATACAAAGAACCAAATACAGTTCTGAAATTTGGGATCTGTATTTTGAGATGATTTTATTTTCAGAATGAGAAGCATATCTGGTTACCTTTATGAATGTAGAGACATGAGAAGAGAGTTATGATGGCAAAAAACAAAGAGCCTCGTCCCCCATCCTATACCATCAGTATAGTTGGACTCTCTGGGACTGAAAAAGACAAAGGTAACTGTGGAGTTGGAAAGTCTTGTTTGTGCAATAGATTTGTACGCTCAAAAGCAGATGAATATTATCCAGAGCATACTTCTGTGCTTAGCACCATTGACTTTGGAGGACGAGTAGTAAACAATGATCACTTTTTGTACTGGGGTGACATAATACAAAATAGTGAAGATGGAGTAGAATGCAAAATTCATGTCATTGAACAAACAGAGTTCATTGATGACCAGACTTTCTTGCCTCATCGGAGTACGAATTTGCAACCATATATAAAACGTGCAGCTGCATCTAAATTGCAGTCAGCAGAAAAACTAATGTACATTTGCACTGATCAGCTAGGCTTAGAACAAGACTTTGAACAGAAGCAAATGCCTGAAGGGAAGCTCAACGTAGATGGATTTTTATTATGCATTGATGTAAGTCAAGGATGCAATAGGAAGTTTGATGATCAACTTAAATTTGTGAATAACCTTTTTGTCCAGTTATCAAAATCAAAAAAACCTGTAATAATAGCAGCAACTAAATGTGATGAATGCGTGGATCATTATCTTAGAGAAGTTCAGGCATTTGCTTCAAATAAAAAGAACCTTCTTGTAGTGGAAACATCAGCACGATTTAATGTCAACATTGAAACATGTTTTACTGCACTGGTACAAATGTTGGATAAAACTCGTAGCAAGCCTAAAATTATTCCCTATTTGGATGCTTATAAAACACAGAGACAACTTGTTGTCACAGCAACAGATAAGTTTGAAAAACTTGTGCAGACTGTGAGAGATTATCATGCAACTTGGAAAACTGTTAGTAATAAATTAAAAAATCATCCTGATTATGAAGAATACATCAACTTAGAGGGAACAAGAAAGGCCAGAAATACATTCTCAAAACATATAGAACAACTTAAACAGGAACATATAAGAAAAAGGAGAGAAGAGTATATAAATACTTTACCAAGAGCTTTTAACACTCTTTTGCCAAATCTAGAAGAGATTGAACATTTGAATTGGTCAGAAGCTTTGAAGTTAATGGAAAAGAGAGCAGATTTCCAGTTATGTTTTGTGGTGCTAGAAAAAACTCCTTGGGATGAAACTGACCATATAGACAAAATTAATGATAGGCGGATTCCATTTGACCTCCTGAGCACTTTAGAAGCTGAAAAAGTCTATCAGAACCATGTACAGCATCTGATATCCGAGAAGAGGAGGGTGGAAATGAAGGAAAAATTCAAAAAGACTTTGGAAAAAATTCAATTCATTTCACCAGGGCAGCCATGGGAGGAAGTTATGTGCTTTGTTATGGAGGATGAAGCCTACAAATATATCACTGAGGCTGATAGCAAAGAGGCATATGGTAGGCATCAGCGAGAAATAGTTGAAAAAGCCAAAGAAGAGTTTCAAGAAATGCTTTTTGAGCATTCTGAACTTTTTTATGATTTAGATCTTAATGCAACACCTAGTTCAGATAAAATGAGTGAAATTCATACAGTTCTGAGTGAAGAACCTAGATATAAAGCTTTACAGAAACTTGCACCTGATAGGGAATCCCTTCTACTTAAGCATATAGGATTTGTTTATCATCCCACTAAAGAAACATGTCTTAGTGGCCAAAATTGTACAGACATTAAAGTGGAGCAGTTACTTGCTAGTAGTCTTTTACAGTTGGATCATGGCCGCTTAAGATTATATCACGATAGTACCAATATAGATAAAGTTAACCTTTTTATTTTAGGGAAGGATGGCCTTGCCCAAGAACTAGCAAATGAGATAAGGACACAATCCACTGATGATGAGTATGCCTTAGATGGAAAAATTTATGAACTTGATCTTCGGCCGGTTGATGCCAAATCGCCTTACTTTTTGAGTCAGTTATGGACTGCCGCCTTTAAACCACATGGGTGCTTCTGTGTATTTAATTCCATTGAGTCATTGAGTTTTATTGGGGAATTTATTGGGAAAATAAGAACTGAAGCTTCTCAGATCAGAAAAGATAAATACATGGCTAATCTTCCATTTACATTAATTCTGGCTAATCAGAGAGATTCCATTAGTAAGAATCTACCAATTCTCAGGCACCAAGGGCAGCAGTTGGCAAACAAGTTGCAATGTCCTTTTGTAGATGTACCTGCTGGTACATATCCTCGTAAATTTAATGAAACCCAAATAAAGCAAGCTCTCAGAGGAGTATTGGAATCAGTTAAACACAATTTGGATGTGGTGAGCCCAATTCCTGCCAATAAGGACTTATCAGAAGCTGACTTGAGAATTGTCATGTGCGCCATGTGTGGAGATCCATTTAGTGTGGATCTTATTCTTTCACCCTTCCTTGATTCTCATTCTTGCAGTGCTGCTCAAGCTGGACAGAATAATTCCCTAATGCTTGATAAAATCATTGGTGAAAAAAGGAGGCGAATACAGATCACAATATTATCATACCACTCTTCAATTGGAGTAAGAAAAGATGAACTAGTTCATGGGTATATATTAGTTTACTCTGCAAAACGGAAAGCTTCGATGGGAATGCTTCGAGCATTTCTATCAGAAGTTCAAGACACCATTCCTGTACAGCTGGTGGCAGTTACTGACAGCCAAGCAGATTTTTTTGAAAATGAGGCTATCAAAGAGTTAATGACTGAAGGAGAACACATTGCAACTGAGATCACTGCTAAATTTACAGCACTGTATTCTTTATCTCAGTATCATCGGCAAACTGAGGTCTTTACTCTGTTTTTTAGTGATGTTCTAGAGAAAAAAAATATGATAGAAAATTCTTATTTGTCTGATAATACAAGGGAATCAACCCATCAAAGTGAAGATGTTTTTCTACCATCTCCCAGAGACTGTTTTCCCTATAATAACTACCCTGATTCAGATGATGACACAGAAGCACCACCTCCTTATAGTCCAATTGGGGATGATGTACAGTTGCTTCCAACACCTAGTGACCGTTCCAGATATAGATTAGATTTGGAAGGAAATGAGTATCCTATTCATAGTACCCCAAACTGTCATGACCATGAACGCAACCATAAAGTGCCTCCACCTATTAAACCTAAACCAGTTGTACCTAAGACAAATGTGAAAAAACTCGATCCAAACCTTTTAAAAACAATTGAAGCTGGTATTGGTAAAAATCCAAGAAAGCAGACTTCCCGGGTGCCTTTGGCACATCCTGAAGATATGGATCCTTCAGATAACTATGCGGAACCCATTGATACAATTTTCAAACAGAAGGGCTATTCTGATGAGATTTATGTTGTCCCAGATGATAGTCAAAATCGTATTAAAATTCGAAACTCATTTGTAAATAACACCCAAGGAGATGAAGAAAATGGGTTTTCTGATAGAACCTCAAAAAGTCATGGGGAACGGAGGCCTTCAAAATACAAATATAAA
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Task1_train_19692
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A mutation in CFL2 (cofilin 2), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Nemaline myopathy 7
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TATAAGGAGCACAGTCTGGACCATAGCCAAATCCCACTACTAATGTTTAAGACTGCTATTATCAATTCCTATTCCAATTCAATTTGCAAAATATATTCAGAAATAGTAGGTGAAATGACTGTTCCGAAACATCAGAAGTATCATTAAACTTTTAAAGGACATTTTACAAATTATTTTCATTACGACCAAATAAGCAATAAGAGCTTCCTGCTTCTACTATACAACTACTTAGAAATGTAAATGTGAATAAAAAAATAACTATGCTAATTTATCCAGAGAACAAATCAGATATTGAAAAGTATTTATGCCAAAGTGCAAAAAATAATTTCTGATCTTCATATTAACACATAGGAAATAAATACACTAATGTTTATAAAAGTACCATTCTTTAACAATGGTATTTTATATTAGTTGGCCTTAAGATAGAATACTTTTTAAACCAAATAGATCCAACAAATCTGGAAAATATCACACATGAATGCTGTACAAAAAAAATTCTCAAATGACCAGTGCAGAGATTAGTAATAGCTGTTTTTACCCTAGAAGTTGTTTCACATAACATTTTGCAAAATTTCCAAGGAAAACAAGGCAACGTTCTGTAATATGCCACAATTTTTATTGCAACGTGGCCATTTTTGTGAGGGTGGGGAGTTTGATCTCAAAACAATGTTCCATTTAAGGCTCTTTTATACAGAAATTGCCATCATGACTGATATTCAAAATATCTTTAGTGTTGCAGGACTCACATGGTAAACATAAAACTCCTACACTTATTCAGTAGTGTACACTCAATGGAAAACAAAAAGGCATTAATAACAGCTATTTCTTTTAAGAAGATATGCAGGTAACAGGAATGAACACTGAGGTACTAGGATAAGTTGATGACACAGTTAACAAAACTTAATTGGCATTCCTTTTAGGATATTAAACTTATTACAAAAAGTGCTTTTAATGCATAGTGTTATATCCGTGCTGCCATATCACTAAAATAGGCTTGCCAAGGCAGGTGAGGTGTATGAATGCTCAAGCCTCACAGAACTGCAATCAAGTGCCAACTATAAATAATACTGAAAAAAGTTGACCATCTGACCAGTGGATAATACTTTCAAGGCATTCAATTAGCTTATCCTTTGCAGTATTCTAAGCTATTCACATTGACGATCACATACATTGTAGTGCTTGCTGCAAGGGAGGCATATAACCAGTTGTTTTGGCTAAAATATGACAGGAAGGCATTCCTTGGGTTCTATATAAAAGTAACAGTATTCAACAGTCTAATGGCAATCACTGATAGGCTGCTTAAATAAATGATATTTCCTTCATTCATTGTGTTGGAAGGGCCCAGTGGAAAGGGGGAAATACAACAAAAAACCAAAACCTAATACTATTCCAATGGACTGAGCTGGAGAAATGGAAGCTCCTTAAGATCCAGATGGCACTTGACTGTCATTTTATAATGGTTTTCCTTCAAGTGAAACTACTACATTGCCTCCCAATTTCTCTCCAAGTGTCGAACGGTCCTTAATATCATCCAAGCCATTTACTTGCCACTCATGTTTAATACCTAAAAAGAAAAAACATTATCCTATTACTTTATTATAATTAATAAAGAATAATTTCTCTGCCCCAAATATTCAAGTTTGTACCTGTAAATTTCTTTTTAATGGCATCTTTAGAGCTAGCATAAATCATCTTGCTTTTTAAAGGTGCACTTTCAGGAGCCCTACAGAAAAAAAAAAAATTATTGAATCCCATTTATAAGAAAAACAAAGGTAAGACTGACTATGATAATAATAATCCTTGCATTTTAAAAGTACTTTTTTCTTTTGTTTTTACACACCAGAATATAAATACTAGGTCTTCTTTCTTAGACTCTTTTGTTTCGTATGTGGCATCGTACAAAGCATATCGGCAATCATTCAGAGGTAGCAACTTCACAAAAGATGTGTAGGGGTCCTCTACAGTATCACCAATGTCACCCACCAAGATCTGCTTTGCTTCCTCTACAATTATTTGTCTTTTGTCATCGCTTAAACAGAAGAGAACTGCTTTCTTTCTCTTTTTGATCTCCTCTTGTGTAGAAGATTTCCTTACTTTCATATCATTAAAAACTTTGATGACTTCATCATTCACTGTAACTCCAGAAGCCTGAAAATAAACACAGAACAGTAATTCAGAACACGTATTTTGGTTTTAACCAAAATTACTGTTTGCCTAGAGAAGACTCACTTTAGTCTGGACATCAAAAATTGCACCGTACCATGTAAGTCGTCCAATCAGATTTGTCACATTTTAAGAATCAGTAGACGATACAGCGAAGGAGTCTAACTCATCCTGCCCATTCATCCTTCTTAAAGGGGTTTGGACGTGGAAGCGAAAGGGACAAATACAAGTTGTCCCATCCCTGAAATGTTTCCTATTTCACTGGGTGATGTCAGAGCTTCAGGAGTGGCAGCAAAAATACCTTCTGTATTGTGTCAACTCGGCTGGCCTTAAAAAAACACTTTTGGATTTCAGTTAATGCTTCTACTATTTTTTTCTTTAAAGTCATCCTAGCCACTGACGTTTCCTCATAAGGAAAGAGAATCAAGTGTAAACTCCAAACCGCCCACGGCCCACACACAGCTCACATGCAGACACTCCAAAACTAACTGATCGAGTGTAAAAGCTTTTACGGCGAGAAAGCATTTTAAAAAGTGTTTTCCCTCTTCCTTAATCTCCCCGTAAGGGTTTTATTACAGGCCGTCCAGACCCTGACCCACACAGCGTTCGCAGCACGTACCAATTTTAAAGCCTCGCGTGTTAAGTAAAATTAGGAAGCGAAGGGCAAAGGCGGCGCGAGCGGCTGCAGTCCGCAGACCCTCTCGCGCCCCCGCCCGCCCGGCCCCGACCCCCAACCTGCGCCGACGCCCGGGCCCTCCCCGCCCCCCAAAATCCAAAGAGCAGCAGGGCAGGGCCTGACGGCCGGAGGGCAGGCCGGTCGGCTGGAGAGCAGCGGAGCCGCAGAGCAGAAGCGCCCACCTTGGAGGCCAAAATCAGGTTAAAATGGCGGCCTCACTCCCGGGGCCGTGCGGGGGGCTTTTCTCGCCTCGCCGCGGCCTCCCGGCCAGCGCGCTCGTCTTACCATAGTGCCCTCGGCTGTGGCTGCGGCGGCAGCTCGGGCTTCGGCTCTGTGGCACTGGGAGGAGAAGGAGGGGCGGGCGAGCGGGTGGGCAGCGGAGAGTGCGGGGCACGCCGGGAGCTGCAGCCCGAGGGAGGTGGCGGGGCTCGGCGGGCCGCAGGCAGCGGGCGGGGCGGTCACGTGGGCACGCCTGGTCCCCAGCCGGCGCCACCCGCTCCCAGGCCGGCCCTTCTGTCTCGCGGCCCCGGCTCCCCGGCTGTCCGCGTCCTCGGCCTGACCTCAGAGCGCGAGCCCTGCAGGCCGGGGGGGGCGACGCGGTGGTAGCGGAGCCCGGGAGCCTGGCAGAGCCGCCTCCAGCCCCCGAGCATCACCCGTCAAGCCGGTGGGAGAGAGTGCTGGGCTCCCAGAGGGGCGTTTCCACCGCCTCCGTAGGGCCCTGCGCCAGGGGTGGGTGCGTGTGAGGGGAACTCCTGCGAAGGTGTCTTTCCTTATTTACCTGTGGTTTTCCCGAAAGAGGCTGGATTTCGACATTTTGAGTCTTTTTGGAAAACCCCCAGTTGTTTAGAGATAAATGAGAATAAATACTACACGAGATTGCTCCAGTTGATAGTACTTAGCAAAAACAAAATGATACGCAGTGTTGGTAAATCACTTTTCAAAACTCTGGTTGAAATAATAATTATGATTAAAAAATTACGTGGTAGCATTCCTTAGTAATATCCTTTTACATTTTAGACTTCATAGGAAATGGATTGTACTCTCTCTTAGAGATTTCATGAAGCTCCAGCTATGACAGCTGATATCAAATAAGCCGACGCAGCCTCTTCTAGCAAAGCCCATATAACTGCGCCAAGGCAGTTTCTCTTTTTTTAATCTTAACTCCTCCATACCTCAGGGTTCTTCATGTGTAAAACAAACTGTTATTAAATTATCGTTAAGGCCCTTTCCAGCTTTAGATTTCAGTTTCTGAGTATA
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TATAAGGAGCACAGTCTGGACCATAGCCAAATCCCACTACTAATGTTTAAGACTGCTATTATCAATTCCTATTCCAATTCAATTTGCAAAATATATTCAGAAATAGTAGGTGAAATGACTGTTCCGAAACATCAGAAGTATCATTAAACTTTTAAAGGACATTTTACAAATTATTTTCATTACGACCAAATAAGCAATAAGAGCTTCCTGCTTCTACTATACAACTACTTAGAAATGTAAATGTGAATAAAAAAATAACTATGCTAATTTATCCAGAGAACAAATCAGATATTGAAAAGTATTTATGCCAAAGTGCAAAAAATAATTTCTGATCTTCATATTAACACATAGGAAATAAATACACTAATGTTTATAAAAGTACCATTCTTTAACAATGGTATTTTATATTAGTTGGCCTTAAGATAGAATACTTTTTAAACCAAATAGATCCAACAAATCTGGAAAATATCACACATGAATGCTGTACAAAAAAAATTCTCAAATGACCAGTGCAGAGATTAGTAATAGCTGTTTTTACCCTAGAAGTTGTTTCACATAACATTTTGCAAAATTTCCAAGGAAAACAAGGCAACGTTCTGTAATATGCCACAATTTTTATTGCAACGTGGCCATTTTTGTGAGGGTGGGGAGTTTGATCTCAAAACAATGTTCCATTTAAGGCTCTTTTATACAGAAATTGCCATCATGACTGATATTCAAAATATCTTTAGTGTTGCAGGACTCACATGGTAAACATAAAACTCCTACACTTATTCAGTAGTGTACACTCAATGGAAAACAAAAAGGCATTAATAACAGCTATTTCTTTTAAGAAGATATGCAGGTAACAGGAATGAACACTGAGGTACTAGGATAAGTTGATGACACAGTTAACAAAACTTAATTGGCATTCCTTTTAGGATATTAAACTTATTACAAAAAGTGCTTTTAATGCATAGTGTTATATCCGTGCTGCCATATCACTAAAATAGGCTTGCCAAGGCAGGTGAGGTGTATGAATGCTCAAGCCTCACAGAACTGCAATCAAGTGCCAACTATAAATAATACTGAAAAAAGTTGACCATCTGACCAGTGGATAATACTTTCAAGGCATTCAATTAGCTTATCCTTTGCAGTATTCTAAGCTATTCACATTGACGATCACATACATTGTAGTGCTTGCTGCAAGGGAGGCATATAACCAGTTGTTTTGGCTAAAATATGACAGGAAGGCATTCCTTGGGTTCTATATAAAAGTAACAGTATTCAACAGTCTAATGGCAATCACTGATAGGCTGCTTAAATAAATGATATTTCCTTCATTCATTGTGTTGGAAGGGCCCAGTGGAAAGGGGGAAATACAACAAAAAACCAAAACCTAATACTATTCCAATGGACTGAGCTGGAGAAATGGAAGCTCCTTAAGATCCAGATGGCACTTGACTGTCATTTTATAATGGTTTTCCTTCAAGTGAAACTACTACATTGCCTCCCAATTTCTCTCCAAGTGTCGAACGGTCCTTAATATCATCCAAGCCATTTACTTGCCACTCATGTTTAATACCTAAAAAGAAAAAACATTATCCTATTACTTTATTATAATTAATAAAGAATAATTTCTCTGCCCCAAATATTCAAGTTTGTACCTGTAAATTTCTTTTTAATGGCATCTTTAGAGCTAGCATAAATCATCTTGCTTTTTAAAGGTGCACTTTCAGGAGCCCTACAGAAAAAAAAAAAATTATTGAATCCCATTTATAAGAAAAACAAAGGTAAGACTGACTATGATAATAATAATCCTTGCATTTTAAAAGTACTTTTTTCTTTTGTTTTTACACACCAGAATATAAATACTAGGTCTTCTTTCTTAGACTCTTTTGTTTCGTATGTGGCATCGTACAAAGCATATCGGCAATCATTCAGAGGTAGCAACTTCACAAAAGATGTGTAGGGGTCCTCTACAGTATCACCAATGTCACCCACCAAGATCTGCTTTGCTTCCTCTACAATTATTTGTCTTTTGTCATCGCTTAAACAGAAGAGAACTGTTTTCTTTCTCTTTTTGATCTCCTCTTGTGTAGAAGATTTCCTTACTTTCATATCATTAAAAACTTTGATGACTTCATCATTCACTGTAACTCCAGAAGCCTGAAAATAAACACAGAACAGTAATTCAGAACACGTATTTTGGTTTTAACCAAAATTACTGTTTGCCTAGAGAAGACTCACTTTAGTCTGGACATCAAAAATTGCACCGTACCATGTAAGTCGTCCAATCAGATTTGTCACATTTTAAGAATCAGTAGACGATACAGCGAAGGAGTCTAACTCATCCTGCCCATTCATCCTTCTTAAAGGGGTTTGGACGTGGAAGCGAAAGGGACAAATACAAGTTGTCCCATCCCTGAAATGTTTCCTATTTCACTGGGTGATGTCAGAGCTTCAGGAGTGGCAGCAAAAATACCTTCTGTATTGTGTCAACTCGGCTGGCCTTAAAAAAACACTTTTGGATTTCAGTTAATGCTTCTACTATTTTTTTCTTTAAAGTCATCCTAGCCACTGACGTTTCCTCATAAGGAAAGAGAATCAAGTGTAAACTCCAAACCGCCCACGGCCCACACACAGCTCACATGCAGACACTCCAAAACTAACTGATCGAGTGTAAAAGCTTTTACGGCGAGAAAGCATTTTAAAAAGTGTTTTCCCTCTTCCTTAATCTCCCCGTAAGGGTTTTATTACAGGCCGTCCAGACCCTGACCCACACAGCGTTCGCAGCACGTACCAATTTTAAAGCCTCGCGTGTTAAGTAAAATTAGGAAGCGAAGGGCAAAGGCGGCGCGAGCGGCTGCAGTCCGCAGACCCTCTCGCGCCCCCGCCCGCCCGGCCCCGACCCCCAACCTGCGCCGACGCCCGGGCCCTCCCCGCCCCCCAAAATCCAAAGAGCAGCAGGGCAGGGCCTGACGGCCGGAGGGCAGGCCGGTCGGCTGGAGAGCAGCGGAGCCGCAGAGCAGAAGCGCCCACCTTGGAGGCCAAAATCAGGTTAAAATGGCGGCCTCACTCCCGGGGCCGTGCGGGGGGCTTTTCTCGCCTCGCCGCGGCCTCCCGGCCAGCGCGCTCGTCTTACCATAGTGCCCTCGGCTGTGGCTGCGGCGGCAGCTCGGGCTTCGGCTCTGTGGCACTGGGAGGAGAAGGAGGGGCGGGCGAGCGGGTGGGCAGCGGAGAGTGCGGGGCACGCCGGGAGCTGCAGCCCGAGGGAGGTGGCGGGGCTCGGCGGGCCGCAGGCAGCGGGCGGGGCGGTCACGTGGGCACGCCTGGTCCCCAGCCGGCGCCACCCGCTCCCAGGCCGGCCCTTCTGTCTCGCGGCCCCGGCTCCCCGGCTGTCCGCGTCCTCGGCCTGACCTCAGAGCGCGAGCCCTGCAGGCCGGGGGGGGCGACGCGGTGGTAGCGGAGCCCGGGAGCCTGGCAGAGCCGCCTCCAGCCCCCGAGCATCACCCGTCAAGCCGGTGGGAGAGAGTGCTGGGCTCCCAGAGGGGCGTTTCCACCGCCTCCGTAGGGCCCTGCGCCAGGGGTGGGTGCGTGTGAGGGGAACTCCTGCGAAGGTGTCTTTCCTTATTTACCTGTGGTTTTCCCGAAAGAGGCTGGATTTCGACATTTTGAGTCTTTTTGGAAAACCCCCAGTTGTTTAGAGATAAATGAGAATAAATACTACACGAGATTGCTCCAGTTGATAGTACTTAGCAAAAACAAAATGATACGCAGTGTTGGTAAATCACTTTTCAAAACTCTGGTTGAAATAATAATTATGATTAAAAAATTACGTGGTAGCATTCCTTAGTAATATCCTTTTACATTTTAGACTTCATAGGAAATGGATTGTACTCTCTCTTAGAGATTTCATGAAGCTCCAGCTATGACAGCTGATATCAAATAAGCCGACGCAGCCTCTTCTAGCAAAGCCCATATAACTGCGCCAAGGCAGTTTCTCTTTTTTTAATCTTAACTCCTCCATACCTCAGGGTTCTTCATGTGTAAAACAAACTGTTATTAAATTATCGTTAAGGCCCTTTCCAGCTTTAGATTTCAGTTTCTGAGTATA
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Task1_train_19693
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Gene CFL2 (cofilin 2) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Nemaline myopathy 7
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TACTATACAACTACTTAGAAATGTAAATGTGAATAAAAAAATAACTATGCTAATTTATCCAGAGAACAAATCAGATATTGAAAAGTATTTATGCCAAAGTGCAAAAAATAATTTCTGATCTTCATATTAACACATAGGAAATAAATACACTAATGTTTATAAAAGTACCATTCTTTAACAATGGTATTTTATATTAGTTGGCCTTAAGATAGAATACTTTTTAAACCAAATAGATCCAACAAATCTGGAAAATATCACACATGAATGCTGTACAAAAAAAATTCTCAAATGACCAGTGCAGAGATTAGTAATAGCTGTTTTTACCCTAGAAGTTGTTTCACATAACATTTTGCAAAATTTCCAAGGAAAACAAGGCAACGTTCTGTAATATGCCACAATTTTTATTGCAACGTGGCCATTTTTGTGAGGGTGGGGAGTTTGATCTCAAAACAATGTTCCATTTAAGGCTCTTTTATACAGAAATTGCCATCATGACTGATATTCAAAATATCTTTAGTGTTGCAGGACTCACATGGTAAACATAAAACTCCTACACTTATTCAGTAGTGTACACTCAATGGAAAACAAAAAGGCATTAATAACAGCTATTTCTTTTAAGAAGATATGCAGGTAACAGGAATGAACACTGAGGTACTAGGATAAGTTGATGACACAGTTAACAAAACTTAATTGGCATTCCTTTTAGGATATTAAACTTATTACAAAAAGTGCTTTTAATGCATAGTGTTATATCCGTGCTGCCATATCACTAAAATAGGCTTGCCAAGGCAGGTGAGGTGTATGAATGCTCAAGCCTCACAGAACTGCAATCAAGTGCCAACTATAAATAATACTGAAAAAAGTTGACCATCTGACCAGTGGATAATACTTTCAAGGCATTCAATTAGCTTATCCTTTGCAGTATTCTAAGCTATTCACATTGACGATCACATACATTGTAGTGCTTGCTGCAAGGGAGGCATATAACCAGTTGTTTTGGCTAAAATATGACAGGAAGGCATTCCTTGGGTTCTATATAAAAGTAACAGTATTCAACAGTCTAATGGCAATCACTGATAGGCTGCTTAAATAAATGATATTTCCTTCATTCATTGTGTTGGAAGGGCCCAGTGGAAAGGGGGAAATACAACAAAAAACCAAAACCTAATACTATTCCAATGGACTGAGCTGGAGAAATGGAAGCTCCTTAAGATCCAGATGGCACTTGACTGTCATTTTATAATGGTTTTCCTTCAAGTGAAACTACTACATTGCCTCCCAATTTCTCTCCAAGTGTCGAACGGTCCTTAATATCATCCAAGCCATTTACTTGCCACTCATGTTTAATACCTAAAAAGAAAAAACATTATCCTATTACTTTATTATAATTAATAAAGAATAATTTCTCTGCCCCAAATATTCAAGTTTGTACCTGTAAATTTCTTTTTAATGGCATCTTTAGAGCTAGCATAAATCATCTTGCTTTTTAAAGGTGCACTTTCAGGAGCCCTACAGAAAAAAAAAAAATTATTGAATCCCATTTATAAGAAAAACAAAGGTAAGACTGACTATGATAATAATAATCCTTGCATTTTAAAAGTACTTTTTTCTTTTGTTTTTACACACCAGAATATAAATACTAGGTCTTCTTTCTTAGACTCTTTTGTTTCGTATGTGGCATCGTACAAAGCATATCGGCAATCATTCAGAGGTAGCAACTTCACAAAAGATGTGTAGGGGTCCTCTACAGTATCACCAATGTCACCCACCAAGATCTGCTTTGCTTCCTCTACAATTATTTGTCTTTTGTCATCGCTTAAACAGAAGAGAACTGCTTTCTTTCTCTTTTTGATCTCCTCTTGTGTAGAAGATTTCCTTACTTTCATATCATTAAAAACTTTGATGACTTCATCATTCACTGTAACTCCAGAAGCCTGAAAATAAACACAGAACAGTAATTCAGAACACGTATTTTGGTTTTAACCAAAATTACTGTTTGCCTAGAGAAGACTCACTTTAGTCTGGACATCAAAAATTGCACCGTACCATGTAAGTCGTCCAATCAGATTTGTCACATTTTAAGAATCAGTAGACGATACAGCGAAGGAGTCTAACTCATCCTGCCCATTCATCCTTCTTAAAGGGGTTTGGACGTGGAAGCGAAAGGGACAAATACAAGTTGTCCCATCCCTGAAATGTTTCCTATTTCACTGGGTGATGTCAGAGCTTCAGGAGTGGCAGCAAAAATACCTTCTGTATTGTGTCAACTCGGCTGGCCTTAAAAAAACACTTTTGGATTTCAGTTAATGCTTCTACTATTTTTTTCTTTAAAGTCATCCTAGCCACTGACGTTTCCTCATAAGGAAAGAGAATCAAGTGTAAACTCCAAACCGCCCACGGCCCACACACAGCTCACATGCAGACACTCCAAAACTAACTGATCGAGTGTAAAAGCTTTTACGGCGAGAAAGCATTTTAAAAAGTGTTTTCCCTCTTCCTTAATCTCCCCGTAAGGGTTTTATTACAGGCCGTCCAGACCCTGACCCACACAGCGTTCGCAGCACGTACCAATTTTAAAGCCTCGCGTGTTAAGTAAAATTAGGAAGCGAAGGGCAAAGGCGGCGCGAGCGGCTGCAGTCCGCAGACCCTCTCGCGCCCCCGCCCGCCCGGCCCCGACCCCCAACCTGCGCCGACGCCCGGGCCCTCCCCGCCCCCCAAAATCCAAAGAGCAGCAGGGCAGGGCCTGACGGCCGGAGGGCAGGCCGGTCGGCTGGAGAGCAGCGGAGCCGCAGAGCAGAAGCGCCCACCTTGGAGGCCAAAATCAGGTTAAAATGGCGGCCTCACTCCCGGGGCCGTGCGGGGGGCTTTTCTCGCCTCGCCGCGGCCTCCCGGCCAGCGCGCTCGTCTTACCATAGTGCCCTCGGCTGTGGCTGCGGCGGCAGCTCGGGCTTCGGCTCTGTGGCACTGGGAGGAGAAGGAGGGGCGGGCGAGCGGGTGGGCAGCGGAGAGTGCGGGGCACGCCGGGAGCTGCAGCCCGAGGGAGGTGGCGGGGCTCGGCGGGCCGCAGGCAGCGGGCGGGGCGGTCACGTGGGCACGCCTGGTCCCCAGCCGGCGCCACCCGCTCCCAGGCCGGCCCTTCTGTCTCGCGGCCCCGGCTCCCCGGCTGTCCGCGTCCTCGGCCTGACCTCAGAGCGCGAGCCCTGCAGGCCGGGGGGGGCGACGCGGTGGTAGCGGAGCCCGGGAGCCTGGCAGAGCCGCCTCCAGCCCCCGAGCATCACCCGTCAAGCCGGTGGGAGAGAGTGCTGGGCTCCCAGAGGGGCGTTTCCACCGCCTCCGTAGGGCCCTGCGCCAGGGGTGGGTGCGTGTGAGGGGAACTCCTGCGAAGGTGTCTTTCCTTATTTACCTGTGGTTTTCCCGAAAGAGGCTGGATTTCGACATTTTGAGTCTTTTTGGAAAACCCCCAGTTGTTTAGAGATAAATGAGAATAAATACTACACGAGATTGCTCCAGTTGATAGTACTTAGCAAAAACAAAATGATACGCAGTGTTGGTAAATCACTTTTCAAAACTCTGGTTGAAATAATAATTATGATTAAAAAATTACGTGGTAGCATTCCTTAGTAATATCCTTTTACATTTTAGACTTCATAGGAAATGGATTGTACTCTCTCTTAGAGATTTCATGAAGCTCCAGCTATGACAGCTGATATCAAATAAGCCGACGCAGCCTCTTCTAGCAAAGCCCATATAACTGCGCCAAGGCAGTTTCTCTTTTTTTAATCTTAACTCCTCCATACCTCAGGGTTCTTCATGTGTAAAACAAACTGTTATTAAATTATCGTTAAGGCCCTTTCCAGCTTTAGATTTCAGTTTCTGAGTATATCAATGTTCAGTAGGAAATGGTGTGTTTTTGGTGGTCTCAGGATTGAGGTTAGGCAGGAAAGTCATGAGATGGTGTTTGCCCTAGATTGCGTGATAAGTTCTTTCAGCCCAAATTTACTGTATTTTAAATGGAACATGCTAGGCATTGAAACAGACCTATTTTTCTGTCTATATCTTGGGTTTGTTTTCTTAATTGGAAGATAGACTTCGTTTA
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TACTATACAACTACTTAGAAATGTAAATGTGAATAAAAAAATAACTATGCTAATTTATCCAGAGAACAAATCAGATATTGAAAAGTATTTATGCCAAAGTGCAAAAAATAATTTCTGATCTTCATATTAACACATAGGAAATAAATACACTAATGTTTATAAAAGTACCATTCTTTAACAATGGTATTTTATATTAGTTGGCCTTAAGATAGAATACTTTTTAAACCAAATAGATCCAACAAATCTGGAAAATATCACACATGAATGCTGTACAAAAAAAATTCTCAAATGACCAGTGCAGAGATTAGTAATAGCTGTTTTTACCCTAGAAGTTGTTTCACATAACATTTTGCAAAATTTCCAAGGAAAACAAGGCAACGTTCTGTAATATGCCACAATTTTTATTGCAACGTGGCCATTTTTGTGAGGGTGGGGAGTTTGATCTCAAAACAATGTTCCATTTAAGGCTCTTTTATACAGAAATTGCCATCATGACTGATATTCAAAATATCTTTAGTGTTGCAGGACTCACATGGTAAACATAAAACTCCTACACTTATTCAGTAGTGTACACTCAATGGAAAACAAAAAGGCATTAATAACAGCTATTTCTTTTAAGAAGATATGCAGGTAACAGGAATGAACACTGAGGTACTAGGATAAGTTGATGACACAGTTAACAAAACTTAATTGGCATTCCTTTTAGGATATTAAACTTATTACAAAAAGTGCTTTTAATGCATAGTGTTATATCCGTGCTGCCATATCACTAAAATAGGCTTGCCAAGGCAGGTGAGGTGTATGAATGCTCAAGCCTCACAGAACTGCAATCAAGTGCCAACTATAAATAATACTGAAAAAAGTTGACCATCTGACCAGTGGATAATACTTTCAAGGCATTCAATTAGCTTATCCTTTGCAGTATTCTAAGCTATTCACATTGACGATCACATACATTGTAGTGCTTGCTGCAAGGGAGGCATATAACCAGTTGTTTTGGCTAAAATATGACAGGAAGGCATTCCTTGGGTTCTATATAAAAGTAACAGTATTCAACAGTCTAATGGCAATCACTGATAGGCTGCTTAAATAAATGATATTTCCTTCATTCATTGTGTTGGAAGGGCCCAGTGGAAAGGGGGAAATACAACAAAAAACCAAAACCTAATACTATTCCAATGGACTGAGCTGGAGAAATGGAAGCTCCTTAAGATCCAGATGGCACTTGACTGTCATTTTATAATGGTTTTCCTTCAAGTGAAACTACTACATTGCCTCCCAATTTCTCTCCAAGTGTCGAACGGTCCTTAATATCATCCAAGCCATTTACTTGCCACTCATGTTTAATACCTAAAAAGAAAAAACATTATCCTATTACTTTATTATAATTAATAAAGAATAATTTCTCTGCCCCAAATATTCAAGTTTGTACCTGTAAATTTCTTTTTAATGGCATCTTTAGAGCTAGCATAAATCATCTTGCTTTTTAAAGGTGCACTTTCAGGAGCCCTACAGAAAAAAAAAAAATTATTGAATCCCATTTATAAGAAAAACAAAGGTAAGACTGACTATGATAATAATAATCCTTGCATTTTAAAAGTACTTTTTTCTTTTGTTTTTACACACCAGAATATAAATACTAGGTCTTCTTTCTTAGACTCTTTTGTTTCGTATGTGGCATCGTACAAAGCATATCGGCAATCATTCAGAGGTAGCAACTTCACAAAAGATGTGTAGGGGTCCTCTACAGTATCACCAATGTCACCCACCAAGATCTGCTTTGCTTCCTCTACAATTATTTGTCTTTTGTCATCGCTTAAACAGAAGAGAACTGCTTTCTTTCTCTTTTTGATCTCCTCTTGTGTAGAAGATTTCCTTACTTTCATATCATTAAAAACTTTGATGACTTCATCATTCACTGTAACTCCAGAAGCCTGAAAATAAACACAGAACAGTAATTCAGAACACGTATTTTGGTTTTAACCAAAATTACTGTTTGCCTAGAGAAGACTCACTTTAGTCTGGACATCAAAAATTGCACCGTACCAGGTAAGTCGTCCAATCAGATTTGTCACATTTTAAGAATCAGTAGACGATACAGCGAAGGAGTCTAACTCATCCTGCCCATTCATCCTTCTTAAAGGGGTTTGGACGTGGAAGCGAAAGGGACAAATACAAGTTGTCCCATCCCTGAAATGTTTCCTATTTCACTGGGTGATGTCAGAGCTTCAGGAGTGGCAGCAAAAATACCTTCTGTATTGTGTCAACTCGGCTGGCCTTAAAAAAACACTTTTGGATTTCAGTTAATGCTTCTACTATTTTTTTCTTTAAAGTCATCCTAGCCACTGACGTTTCCTCATAAGGAAAGAGAATCAAGTGTAAACTCCAAACCGCCCACGGCCCACACACAGCTCACATGCAGACACTCCAAAACTAACTGATCGAGTGTAAAAGCTTTTACGGCGAGAAAGCATTTTAAAAAGTGTTTTCCCTCTTCCTTAATCTCCCCGTAAGGGTTTTATTACAGGCCGTCCAGACCCTGACCCACACAGCGTTCGCAGCACGTACCAATTTTAAAGCCTCGCGTGTTAAGTAAAATTAGGAAGCGAAGGGCAAAGGCGGCGCGAGCGGCTGCAGTCCGCAGACCCTCTCGCGCCCCCGCCCGCCCGGCCCCGACCCCCAACCTGCGCCGACGCCCGGGCCCTCCCCGCCCCCCAAAATCCAAAGAGCAGCAGGGCAGGGCCTGACGGCCGGAGGGCAGGCCGGTCGGCTGGAGAGCAGCGGAGCCGCAGAGCAGAAGCGCCCACCTTGGAGGCCAAAATCAGGTTAAAATGGCGGCCTCACTCCCGGGGCCGTGCGGGGGGCTTTTCTCGCCTCGCCGCGGCCTCCCGGCCAGCGCGCTCGTCTTACCATAGTGCCCTCGGCTGTGGCTGCGGCGGCAGCTCGGGCTTCGGCTCTGTGGCACTGGGAGGAGAAGGAGGGGCGGGCGAGCGGGTGGGCAGCGGAGAGTGCGGGGCACGCCGGGAGCTGCAGCCCGAGGGAGGTGGCGGGGCTCGGCGGGCCGCAGGCAGCGGGCGGGGCGGTCACGTGGGCACGCCTGGTCCCCAGCCGGCGCCACCCGCTCCCAGGCCGGCCCTTCTGTCTCGCGGCCCCGGCTCCCCGGCTGTCCGCGTCCTCGGCCTGACCTCAGAGCGCGAGCCCTGCAGGCCGGGGGGGGCGACGCGGTGGTAGCGGAGCCCGGGAGCCTGGCAGAGCCGCCTCCAGCCCCCGAGCATCACCCGTCAAGCCGGTGGGAGAGAGTGCTGGGCTCCCAGAGGGGCGTTTCCACCGCCTCCGTAGGGCCCTGCGCCAGGGGTGGGTGCGTGTGAGGGGAACTCCTGCGAAGGTGTCTTTCCTTATTTACCTGTGGTTTTCCCGAAAGAGGCTGGATTTCGACATTTTGAGTCTTTTTGGAAAACCCCCAGTTGTTTAGAGATAAATGAGAATAAATACTACACGAGATTGCTCCAGTTGATAGTACTTAGCAAAAACAAAATGATACGCAGTGTTGGTAAATCACTTTTCAAAACTCTGGTTGAAATAATAATTATGATTAAAAAATTACGTGGTAGCATTCCTTAGTAATATCCTTTTACATTTTAGACTTCATAGGAAATGGATTGTACTCTCTCTTAGAGATTTCATGAAGCTCCAGCTATGACAGCTGATATCAAATAAGCCGACGCAGCCTCTTCTAGCAAAGCCCATATAACTGCGCCAAGGCAGTTTCTCTTTTTTTAATCTTAACTCCTCCATACCTCAGGGTTCTTCATGTGTAAAACAAACTGTTATTAAATTATCGTTAAGGCCCTTTCCAGCTTTAGATTTCAGTTTCTGAGTATATCAATGTTCAGTAGGAAATGGTGTGTTTTTGGTGGTCTCAGGATTGAGGTTAGGCAGGAAAGTCATGAGATGGTGTTTGCCCTAGATTGCGTGATAAGTTCTTTCAGCCCAAATTTACTGTATTTTAAATGGAACATGCTAGGCATTGAAACAGACCTATTTTTCTGTCTATATCTTGGGTTTGTTTTCTTAATTGGAAGATAGACTTCGTTTA
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Task1_train_19694
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Here is a genetic alteration in BAZ1A (bromodomain adjacent to zinc finger domain 1A) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; VATER/VACTERL association with CNS malformations
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CAGTGTCTCTCATATAACCTACTAGACAAGTTGTAACAACTCTCAATGTTAACCTTTTTCTTTGTCTAAATATTTAATAAGTTGTGCAGATGAAAATACAGACATACTAAACAATTAATTTGATTTTCCCCCCTTCAACTTAAAAAAACTTTAATGAAAATTTCAGAAGTGGGAAAATAAGCAATATTGTGTCTTATCCTTTTACTCTTTTGGAATCACAGTGTTAGTAGTAACAGTATCTTACATTTATAAAACCTGCATGATTTGCAAATAATTTTAAATTGAAATTTTAATTTAGCTAATTGTGTATTAATATGTGGTTGTAATAAATACAGAGTGATCCCTTGTACACATAACTGGATTTACACAAAGAAAATCCTAAGAAATACTGAAGACTGGGAAATAAAAGTGACATAGCAAATACCAACTCTGCTATCTTTGGGAGCTGTGATTATACATATTTTATTTCTTACAATTGCTACTTTCAATGTGGCCAGTGGGTTATTAAGCTTATGGTACGATTATCAATTTACAACAGTGTGAATAGACTTAATGAGATACTGGCCACAACTCTTCAATTTAAAAAGTTTACCAGTATATTCACATTTCAAAACTGCTCTGATTGCACTATGAAAACTTTGTTCTAATAATGAGATATCAAAAAATTATTATTTTTGTTTTTTTTAAGACAGAGTTTCTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAGTCTCAGCTCACTGCATCCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCACCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCCCCAGCTAAAACAATTATTTAAGGATTTTAGTCAATTCAAGTAGTTCTTTCAATAGGAGACCAAAAAGATATGGTTTAAGAAAGTTATTTCTTCCATGATCCCATTACAAGAATATAAATATCTCAACATGATGAGTTATAAATTAAACATCTCAAAAAAACAACAGGGAATTAGAGACAGTTATGATATAAACATTGATTTAGAATTCTGAAACAGATATTTTCCCAAAAACATAATGGTTAGGAGGTTCCTAGATTAGTCCCTAAAAACCCACTAATTTCATAATTTGTCAAAAAGTGATACAGATAGTATATTATTCCTCACTATAAATTATAGAGCATTTCCTCACCCGTGTTCCTTTAAACACTTGGTATTTCTGATTTAGCACTTGGTATTTCTGATATAGCATGTGGGTGACTCATATCATCAAACTATGCCCCAAATGGTAAACTTTTAAGTCACTTATTTGGGGTTCTCTTTCAAATAACAGAAAAAAAAAAAAGTTACACATAATCTTTGATTATTCAAGGTCTGACTAGTTATAGGTTTTGGTGATCTTTTTTTTCTTTTAAAGAGACAGGGTCTTACTCTGTCACCTAGGCCACCATGCAATGGTGTGGTCATAGCTCATTGTAACCTCAAATTCCTGGGCTCATGTGATCCTCCCACCCCAGCCTCTGGGACTACAGTTGCATGCCATGATGCCTAGCTAATTTTTTTCTTTTTTAATTTTGTAGAGATGGGGTTCTTGCTATATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCGATTCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTAGCTGGTAATCTTTCTTTTGATGAAACTCTTCACAAAAGACTGTATTATTCTAAAAATAAATCTCACCTTAAAAGAACTCATTTAAAAATGAAAACATCTCAAGTTTTTAAGATTATCAATTTCATTATGTCAGCCAATAAAGTTCTATTAGTTAAAGGCCAACTCAAAATTACTTATAACACAACTAATATTTTGAAATAAAAACAGATACTTACCAAGTGGAGCTTTCAGAAAACGCCGCTCAATGCCCTGCTCTATTTGAAAGAGTGCCATTGCCAGATAATGAACCACACTGCTCACTGATTGTGGTGTACTTGCATTTGTTGATACAGTACTTGGAGTTTCTGTTTTTATCCCCAAAAGTCTACAATTAAAACAATTAAGAGTTTATGGTACTTAAAAACACTATTAGGTAAAACTTGAGTCCATTCATTGGTTCAAATGCTTATTTATACCTTTGTAAAAAATCATTTCCTCAATCTCAAGGAGTTGCAGTAAACTAGTAGGGAAGGGAGATTCATTTAGAAGGACTAAGGGTAAATATTTGAAGGAGAGAAAGAAGAGGGAAGGCTTATGGGAAAGGTTTCAGAGAGGTGACATTGTGATGGGCCTTAAAGCCTAAGTATTTCGGGCAGCTTATCTCTATTTCTCTTGTTTTGCCCTTTTTTTTTGCTTTTTTGAGACAGTCTCGCACTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCATGATTCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGCGCCTGGCCTAAAATGATCATTTTAAAGTGCAAACTCATTCACTCAAAGCCTTTGTACATGGTTTTTCTTCCCAGTGTCCTATTTTTCTCAACTTTAGGGCTCAGCTTTGCAGTCACTTCCTCTTGCACTTCCTTTACTATCTCCCATGTTCTACTAAGACAAGTAGCCCGCCCATGTACTTCATCTGCACTGGGTATAACCTTCTATCAGTACCCCATTCTAGTAAATATAATGCTAGCCTCATGTTTCTCCACTGTTCCCTTCTAGATGACAAACTGCTTAAAGGCATATAATATCCAAAATAATCTTGAAAAAATAAAAGTATCTATAGATATATGGATATAGATTCTGATTAGTAATAATATTTAATACTTATACTTATTTAGAGATGAGGTCTCATTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCATTATTAGCTCACTGCAGCTTTGAAGTCCTGGGGTACAACGATGGAATAGATGGGACTACAAGTGCATGCCGGCCAGGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGGCATCACAAGGTCAGGAGATCAAGATCGTCCTGGCCAACGTGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCAGGGAGTAGGAGGTTGCAGTGAGCTGAGATTGTGCTACTTTACTCCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAATAACAACAACAACAACAAAAACCAAGTGCATGCCACCATGCCCAGATAATTAAAAAAAAGAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCCGGCCTCAAGTGATCCTCCTGCTTCCGCCTCCCGAGCAGCTGAGACTACAGGCCCACGCCATCTTGCCTGGCTCAAATAACATTCAAGTCTACCAGAATTTACTAATTTACTAAGTTTTCCTATAGAAAAGAAGAATAATAGTATAATTACTTTCCAAAATTAATAAAACCTTAAGTTCAAAGATTAAAAAAAAAAACTTTAAGAAATTATCATTATTCGAATGAATTGTTTTTTGGTTGCATTAGTACAAAGTGGAGTAACAGAGATCCTGAGGTTTAGAAAATGATCAGTCCAATGGTTACAAATATCAAGGTCCTCACGACAAGTTTTTAAAATAAGAAAAAGCAACATATTTACTTAAAAACCAAAAAAAAAAAAAAAACCTTAAAATGGCAAGGAAAAGTAATGGTTACTTTAGAAAAATCTTTTTGTACCTGTCTTTTA
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CAGTGTCTCTCATATAACCTACTAGACAAGTTGTAACAACTCTCAATGTTAACCTTTTTCTTTGTCTAAATATTTAATAAGTTGTGCAGATGAAAATACAGACATACTAAACAATTAATTTGATTTTCCCCCCTTCAACTTAAAAAAACTTTAATGAAAATTTCAGAAGTGGGAAAATAAGCAATATTGTGTCTTATCCTTTTACTCTTTTGGAATCACAGTGTTAGTAGTAACAGTATCTTACATTTATAAAACCTGCATGATTTGCAAATAATTTTAAATTGAAATTTTAATTTAGCTAATTGTGTATTAATATGTGGTTGTAATAAATACAGAGTGATCCCTTGTACACATAACTGGATTTACACAAAGAAAATCCTAAGAAATACTGAAGACTGGGAAATAAAAGTGACATAGCAAATACCAACTCTGCTATCTTTGGGAGCTGTGATTATACATATTTTATTTCTTACAATTGCTACTTTCAATGTGGCCAGTGGGTTATTAAGCTTATGGTACGATTATCAATTTACAACAGTGTGAATAGACTTAATGAGATACTGGCCACAACTCTTCAATTTAAAAAGTTTACCAGTATATTCACATTTCAAAACTGCTCTGATTGCACTATGAAAACTTTGTTCTAATAATGAGATATCAAAAAATTATTATTTTTGTTTTTTTTAAGACAGAGTTTCTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAGTCTCAGCTCACTGCATCCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCACCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCCCCAGCTAAAACAATTATTTAAGGATTTTAGTCAATTCAAGTAGTTCTTTCAATAGGAGACCAAAAAGATATGGTTTAAGAAAGTTATTTCTTCCATGATCCCATTACAAGAATATAAATATCTCAACATGATGAGTTATAAATTAAACATCTCAAAAAAACAACAGGGAATTAGAGACAGTTATGATATAAACATTGATTTAGAATTCTGAAACAGATATTTTCCCAAAAACATAATGGTTAGGAGGTTCCTAGATTAGTCCCTAAAAACCCACTAATTTCATAATTTGTCAAAAAGTGATACAGATAGTATATTATTCCTCACTATAAATTATAGAGCATTTCCTCACCCGTGTTCCTTTAAACACTTGGTATTTCTGATTTAGCACTTGGTATTTCTGATATAGCATGTGGGTGACTCATATCATCAAACTATGCCCCAAATGGTAAACTTTTAAGTCACTTATTTGGGGTTCTCTTTCAAATAACAGAAAAAAAAAAAAGTTACACATAATCTTTGATTATTCAAGGTCTGACTAGTTATAGGTTTTGGTGATCTTTTTTTTCTTTTAAAGAGACAGGGTCTTACTCTGTCACCTAGGCCACCATGCAATGGTGTGGTCATAGCTCATTGTAACCTCAAATTCCTGGGCTCATGTGATCCTCCCACCCCAGCCTCTGGGACTACAGTTGCATGCCATGATGCCTAGCTAATTTTTTTCTTTTTTAATTTTGTAGAGATGGGGTTCTTGCTATATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCGATTCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTAGCTGGTAATCTTTCTTTTGATGAAACTCTTCACAAAAGACTGTATTATTCTAAAAATAAATCTCACCTTAAAAGAACTCATTTAAAAATGAAAACATCTCAAGTTTTTAAGATTATCAATTTCATTATGTCAGCCAATAAAGTTCTATTAGTTAAAGGCCAACTCAAAATTACTTATAACACAACTAATATTTTGAAATAAAAACAGATACTTACCAAGTGGAGCTTTCAGAAAACGCTGCTCAATGCCCTGCTCTATTTGAAAGAGTGCCATTGCCAGATAATGAACCACACTGCTCACTGATTGTGGTGTACTTGCATTTGTTGATACAGTACTTGGAGTTTCTGTTTTTATCCCCAAAAGTCTACAATTAAAACAATTAAGAGTTTATGGTACTTAAAAACACTATTAGGTAAAACTTGAGTCCATTCATTGGTTCAAATGCTTATTTATACCTTTGTAAAAAATCATTTCCTCAATCTCAAGGAGTTGCAGTAAACTAGTAGGGAAGGGAGATTCATTTAGAAGGACTAAGGGTAAATATTTGAAGGAGAGAAAGAAGAGGGAAGGCTTATGGGAAAGGTTTCAGAGAGGTGACATTGTGATGGGCCTTAAAGCCTAAGTATTTCGGGCAGCTTATCTCTATTTCTCTTGTTTTGCCCTTTTTTTTTGCTTTTTTGAGACAGTCTCGCACTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCATGATTCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGCGCCTGGCCTAAAATGATCATTTTAAAGTGCAAACTCATTCACTCAAAGCCTTTGTACATGGTTTTTCTTCCCAGTGTCCTATTTTTCTCAACTTTAGGGCTCAGCTTTGCAGTCACTTCCTCTTGCACTTCCTTTACTATCTCCCATGTTCTACTAAGACAAGTAGCCCGCCCATGTACTTCATCTGCACTGGGTATAACCTTCTATCAGTACCCCATTCTAGTAAATATAATGCTAGCCTCATGTTTCTCCACTGTTCCCTTCTAGATGACAAACTGCTTAAAGGCATATAATATCCAAAATAATCTTGAAAAAATAAAAGTATCTATAGATATATGGATATAGATTCTGATTAGTAATAATATTTAATACTTATACTTATTTAGAGATGAGGTCTCATTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCATTATTAGCTCACTGCAGCTTTGAAGTCCTGGGGTACAACGATGGAATAGATGGGACTACAAGTGCATGCCGGCCAGGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGGCATCACAAGGTCAGGAGATCAAGATCGTCCTGGCCAACGTGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCAGGGAGTAGGAGGTTGCAGTGAGCTGAGATTGTGCTACTTTACTCCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAATAACAACAACAACAACAAAAACCAAGTGCATGCCACCATGCCCAGATAATTAAAAAAAAGAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCCGGCCTCAAGTGATCCTCCTGCTTCCGCCTCCCGAGCAGCTGAGACTACAGGCCCACGCCATCTTGCCTGGCTCAAATAACATTCAAGTCTACCAGAATTTACTAATTTACTAAGTTTTCCTATAGAAAAGAAGAATAATAGTATAATTACTTTCCAAAATTAATAAAACCTTAAGTTCAAAGATTAAAAAAAAAAACTTTAAGAAATTATCATTATTCGAATGAATTGTTTTTTGGTTGCATTAGTACAAAGTGGAGTAACAGAGATCCTGAGGTTTAGAAAATGATCAGTCCAATGGTTACAAATATCAAGGTCCTCACGACAAGTTTTTAAAATAAGAAAAAGCAACATATTTACTTAAAAACCAAAAAAAAAAAAAAAACCTTAAAATGGCAAGGAAAAGTAATGGTTACTTTAGAAAAATCTTTTTGTACCTGTCTTTTA
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Task1_train_19695
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This mutation is located in gene SRP54 (signal recognition particle 54) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Shwachman-Diamond syndrome 1
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GTAAGACCCTGTCTCAAAAAAACAAAAAAAGTGGTAAATGAATGGGCATGACTGTATTAGATTGAAATTTTTTTCAATGTAATAACTAGAAATGTAATAACTTTACAGCCTGTTGCCCAGGCCGGAGTACAGTGGCCTGATGATAGCTCATTGCAGTCTCAAACTCCTGGGCTCAAGCAATCTTACTGCCTCAGCCTCCTTGATTAGCTGGGACCACAGGTGCGTGCCACCACACCTGGCCAATTCTTTAAATTAGTAGAGACAAGATCTTGCTATGCTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAATGAATCCTCCTCCTTTGTCCCCCCGCTGAAAGGGCCGGGATTATAGGCATGAGCCACCACACCCAGCCTCCATTGAAACTTTATTTGCACATAGTTTACCAACCCCTGATCTAGGACATTAACTATTATAGATTTATTATTTTATCATACATTTCAAGCTCCAAACAACTGACCCCCAAGTGAATTATTTTTTAAATGTCCCATGCTTTTTTTTGTTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCATGCCATTCTCCTGCCTCAGCCTTCAGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCTAAATGTCCCATGCTTTTTTAATTTGGAGACTGTCCCTATATGAACCTCAGTTTTCCACTGACTGATTTTAAAGTTGATTATTATTTTTTACTAGCCCTCTAAATGTAGTAACTTTACAGTAAATATTTGGCATTGGAGAATTTACAGTTTGACCTGGAAAATCTTTCACATATAATCTGTAATTTTGTTAAGTAAATATTTGTCAAATTGAATATGGACATTAGCACTCTCGAGTATGGCATCCACTAGCCACATGTGGTTATTGAGCATTTGTAATGTGGCTAGTCCAAACTGAGATGTGTTTTACATATAAAATACACACCAGGTTTTCAGACTTGGTATGGGAAAAGAAATGTAAAATATCTCATTAATTTTTTATATAGATTACATATGAAAATGATAATTTTTTAGATGTATTGGGGTAGATACTAAAATTAGTATCACCTGTTTTTACTTTTTAAATGTCAGTACTGGAAATTTTAAAATTCATGTGTAGCCTTCATATACATTTTTGTATTACATTTCTGTAGTGCTGATGTAGATTCCTCCTGTGGCTTAAATTTGGTTTCACATTTTATACTCCAGCTTGTTCTAAAAAATGCTGTGAGATCTTTACCTCTGAATTGGTTTGGAGTATAGACTTGATTATGACTTCTTAAATTTATGTTCTTAAATTTTACTCTGTCTTTACAAAGGGGAATAATTGTATTATAATAGCTTATGGTAGCTTTTACATGAAAATGTCCTTATTTATATAATTTAAAAGTTGTGGCAGCACAGTGGCTCACGCCTGAAATCCCAGCACTTTGAGGCTGAGACAGAAGGATTGCTTGAACCCAGAAGTTGGAAACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAAAAATTTTTTTAGTTAACTAGGTGTGGTGGCGTGTGCCTGTAGTCCCAGTTACTTGGGAGGCTGAAGTGGGAGCATCATTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTCTGATTATGCCACTGCACTCCAGCCTGGGTGACAAGAGTGTGACCCTGTCTCAAAAAAGGAAAAAAAAGTTGTGGGGAAGGGGTTTTGAATTTATATGTATGTTAACCTGATTTTATTTTTAATTTATTTTTGGTATTTAGCTTGTAGACCCTGGAGTTAAGGCATGGACACCCACTAAAGGAAAACAAAATGTGATTATGTTTGTTGGATTGCAAGGGAGTGGTAAAACAACAACATGTTCAAAGGTAAATTGAACTTAATTTAAAAAGAAGTCATATGGAAGATAGGTTTGTATAAATCAAGTTTTGTATTTAATATAAAAATGTAAAGCCTGGCTTTATAATGTTGAAATATATATTTTATTAATTATAATTATTAGAATGCATTTATATATTATAAATAATGTTATTTTATATAAAATATATTTACATAAAATATATTTATATTATAATAAAATATATTTACATAAAATATATTTTATTAAAATATATTTATATTATAATAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATTAAAATATATTAATAACATATTAAGATATAAAGCCAGGCTTTATAATATTGTTGCTTTATAATTTTGTGTTACTTGATGTATGTTTTTAAATAGTTTTTTTTAGGATAAGAGGAGAGGTCCTCATAGTTTCTTATGATTTTTTTTTTGTAAGAAGGTAGACATCTGTAACTATGCTATTTCTTTTATTAAAAAAAGACCATTCCTATCCTTTCAGGAAGTGAGTGTGTGATTTTTGGAGAAGAGAACATGGAGTTTACTTTATCCTCTATGGCTCAGGACTCCTTTTTCAGGTTCCCACCCAGCATACTATAGATCTTCATTTTGTGTATCCTTATGCCATATTTTTTTAGACAGAGTCTTACTTTTATTGCCCAAGCTTGAGTGCAGTGGCACGCAAACATAGCTTACTGTAGCCTTGACCGCTTTATGCTAATTTTTAATTCAGTTTACCACTCCTTTCTCCCAAATTGCATGTCTCAACAATATTACAAGATTTTTCCACAAGCTTCACGTATGTTACAGTTTGAGAGGGAAAAAGAGAAAAGGATGATTTTTAGATCGTTTTGTTGTTGTTTGTTTTTAATTAACATTAATAGTAGTTAACATTTTTTGCTATGATCATTTGCTACTTGATCATTTTATATTTGAATGCTACTGCATGACAATTAGAATATAAAACTTTGTAGGAAATTTGCCACATTCAAAAATCTTTAATAATATTTTCAGGAGAATTATAAGCAGTTTTATTTTACTCCTTAGGTAAATAATAAGGAAAAACAGAAAAAATTATATGTATAGTTTGTTATATTTTATGATATTATATTTTTAAATCTTTTCTCACCCAGCTAGCATATTATTACCAGAGGAAAGGTTGGAAGACCTGTTTAATATGTGCAGACACATTCAGAGCAGGTAATGTCTTGAAATTTGAAAATTGTTTTATATAATTTTTATTTTCAAGTTTGAGGATTCATGAACTCTTTATCTTCCAGGGGCTTTTGACCAACTAAAACAGAATGCTACCAAAGCAAGAATTCCATTTTATGGAAGGTAGGTTACTGTTTTTTATTTTAACACTTATATCCCTCTTCTTGTCTGTCAGCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGGGTGCAATGGTGCGATCTTGGCTCACTGCAACCACCACCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCTTCCTGAGTAACTGGGATTACAGGTGCCCACCACCATGCCCATCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGACCATGCCCTGCTAATTTTTTTAAAAACTTTTTGTAAAGACCCTGTCTTATAAAATATCCTTTGTTGCCCAGGCTGGTCCCAAGCTCCTGGGCTCAAATGATCCTCCCACCTCAGCCTCCCGAAGGGCTGGGATTACAGGCTTGAGCCACTGTATGCAGCCACACACATGTTCTTATTAAGTGTATTTCTATCTGAGTTTTTGGTGGTGGTTCTTAATTTAGGGGAAAAACTT
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GTAAGACCCTGTCTCAAAAAAACAAAAAAAGTGGTAAATGAATGGGCATGACTGTATTAGATTGAAATTTTTTTCAATGTAATAACTAGAAATGTAATAACTTTACAGCCTGTTGCCCAGGCCGGAGTACAGTGGCCTGATGATAGCTCATTGCAGTCTCAAACTCCTGGGCTCAAGCAATCTTACTGCCTCAGCCTCCTTGATTAGCTGGGACCACAGGTGCGTGCCACCACACCTGGCCAATTCTTTAAATTAGTAGAGACAAGATCTTGCTATGCTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAATGAATCCTCCTCCTTTGTCCCCCCGCTGAAAGGGCCGGGATTATAGGCATGAGCCACCACACCCAGCCTCCATTGAAACTTTATTTGCACATAGTTTACCAACCCCTGATCTAGGACATTAACTATTATAGATTTATTATTTTATCATACATTTCAAGCTCCAAACAACTGACCCCCAAGTGAATTATTTTTTAAATGTCCCATGCTTTTTTTTGTTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCATGCCATTCTCCTGCCTCAGCCTTCAGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCTAAATGTCCCATGCTTTTTTAATTTGGAGACTGTCCCTATATGAACCTCAGTTTTCCACTGACTGATTTTAAAGTTGATTATTATTTTTTACTAGCCCTCTAAATGTAGTAACTTTACAGTAAATATTTGGCATTGGAGAATTTACAGTTTGACCTGGAAAATCTTTCACATATAATCTGTAATTTTGTTAAGTAAATATTTGTCAAATTGAATATGGACATTAGCACTCTCGAGTATGGCATCCACTAGCCACATGTGGTTATTGAGCATTTGTAATGTGGCTAGTCCAAACTGAGATGTGTTTTACATATAAAATACACACCAGGTTTTCAGACTTGGTATGGGAAAAGAAATGTAAAATATCTCATTAATTTTTTATATAGATTACATATGAAAATGATAATTTTTTAGATGTATTGGGGTAGATACTAAAATTAGTATCACCTGTTTTTACTTTTTAAATGTCAGTACTGGAAATTTTAAAATTCATGTGTAGCCTTCATATACATTTTTGTATTACATTTCTGTAGTGCTGATGTAGATTCCTCCTGTGGCTTAAATTTGGTTTCACATTTTATACTCCAGCTTGTTCTAAAAAATGCTGTGAGATCTTTACCTCTGAATTGGTTTGGAGTATAGACTTGATTATGACTTCTTAAATTTATGTTCTTAAATTTTACTCTGTCTTTACAAAGGGGAATAATTGTATTATAATAGCTTATGGTAGCTTTTACATGAAAATGTCCTTATTTATATAATTTAAAAGTTGTGGCAGCACAGTGGCTCACGCCTGAAATCCCAGCACTTTGAGGCTGAGACAGAAGGATTGCTTGAACCCAGAAGTTGGAAACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAAAAATTTTTTTAGTTAACTAGGTGTGGTGGCGTGTGCCTGTAGTCCCAGTTACTTGGGAGGCTGAAGTGGGAGCATCATTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTCTGATTATGCCACTGCACTCCAGCCTGGGTGACAAGAGTGTGACCCTGTCTCAAAAAAGGAAAAAAAAGTTGTGGGGAAGGGGTTTTGAATTTATATGTATGTTAACCTGATTTTATTTTTAATTTATTTTTGGTATTTAGCTTGTAGACCCTGGAGTTAAGGCATGGACACCCACTAAAGGAAAACAAAATGTGATTATGTTTGTTGGATTGCAAGGGAGTGGTAAAGCAACAACATGTTCAAAGGTAAATTGAACTTAATTTAAAAAGAAGTCATATGGAAGATAGGTTTGTATAAATCAAGTTTTGTATTTAATATAAAAATGTAAAGCCTGGCTTTATAATGTTGAAATATATATTTTATTAATTATAATTATTAGAATGCATTTATATATTATAAATAATGTTATTTTATATAAAATATATTTACATAAAATATATTTATATTATAATAAAATATATTTACATAAAATATATTTTATTAAAATATATTTATATTATAATAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATTAAAATATATTAATAACATATTAAGATATAAAGCCAGGCTTTATAATATTGTTGCTTTATAATTTTGTGTTACTTGATGTATGTTTTTAAATAGTTTTTTTTAGGATAAGAGGAGAGGTCCTCATAGTTTCTTATGATTTTTTTTTTGTAAGAAGGTAGACATCTGTAACTATGCTATTTCTTTTATTAAAAAAAGACCATTCCTATCCTTTCAGGAAGTGAGTGTGTGATTTTTGGAGAAGAGAACATGGAGTTTACTTTATCCTCTATGGCTCAGGACTCCTTTTTCAGGTTCCCACCCAGCATACTATAGATCTTCATTTTGTGTATCCTTATGCCATATTTTTTTAGACAGAGTCTTACTTTTATTGCCCAAGCTTGAGTGCAGTGGCACGCAAACATAGCTTACTGTAGCCTTGACCGCTTTATGCTAATTTTTAATTCAGTTTACCACTCCTTTCTCCCAAATTGCATGTCTCAACAATATTACAAGATTTTTCCACAAGCTTCACGTATGTTACAGTTTGAGAGGGAAAAAGAGAAAAGGATGATTTTTAGATCGTTTTGTTGTTGTTTGTTTTTAATTAACATTAATAGTAGTTAACATTTTTTGCTATGATCATTTGCTACTTGATCATTTTATATTTGAATGCTACTGCATGACAATTAGAATATAAAACTTTGTAGGAAATTTGCCACATTCAAAAATCTTTAATAATATTTTCAGGAGAATTATAAGCAGTTTTATTTTACTCCTTAGGTAAATAATAAGGAAAAACAGAAAAAATTATATGTATAGTTTGTTATATTTTATGATATTATATTTTTAAATCTTTTCTCACCCAGCTAGCATATTATTACCAGAGGAAAGGTTGGAAGACCTGTTTAATATGTGCAGACACATTCAGAGCAGGTAATGTCTTGAAATTTGAAAATTGTTTTATATAATTTTTATTTTCAAGTTTGAGGATTCATGAACTCTTTATCTTCCAGGGGCTTTTGACCAACTAAAACAGAATGCTACCAAAGCAAGAATTCCATTTTATGGAAGGTAGGTTACTGTTTTTTATTTTAACACTTATATCCCTCTTCTTGTCTGTCAGCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGGGTGCAATGGTGCGATCTTGGCTCACTGCAACCACCACCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCTTCCTGAGTAACTGGGATTACAGGTGCCCACCACCATGCCCATCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGACCATGCCCTGCTAATTTTTTTAAAAACTTTTTGTAAAGACCCTGTCTTATAAAATATCCTTTGTTGCCCAGGCTGGTCCCAAGCTCCTGGGCTCAAATGATCCTCCCACCTCAGCCTCCCGAAGGGCTGGGATTACAGGCTTGAGCCACTGTATGCAGCCACACACATGTTCTTATTAAGTGTATTTCTATCTGAGTTTTTGGTGGTGGTTCTTAATTTAGGGGAAAAACTT
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Task1_train_19696
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A variant was discovered in gene SRP54 (signal recognition particle 54), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Neutropenia, severe congenital, 8, autosomal dominant
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GTAAGACCCTGTCTCAAAAAAACAAAAAAAGTGGTAAATGAATGGGCATGACTGTATTAGATTGAAATTTTTTTCAATGTAATAACTAGAAATGTAATAACTTTACAGCCTGTTGCCCAGGCCGGAGTACAGTGGCCTGATGATAGCTCATTGCAGTCTCAAACTCCTGGGCTCAAGCAATCTTACTGCCTCAGCCTCCTTGATTAGCTGGGACCACAGGTGCGTGCCACCACACCTGGCCAATTCTTTAAATTAGTAGAGACAAGATCTTGCTATGCTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAATGAATCCTCCTCCTTTGTCCCCCCGCTGAAAGGGCCGGGATTATAGGCATGAGCCACCACACCCAGCCTCCATTGAAACTTTATTTGCACATAGTTTACCAACCCCTGATCTAGGACATTAACTATTATAGATTTATTATTTTATCATACATTTCAAGCTCCAAACAACTGACCCCCAAGTGAATTATTTTTTAAATGTCCCATGCTTTTTTTTGTTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCATGCCATTCTCCTGCCTCAGCCTTCAGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCTAAATGTCCCATGCTTTTTTAATTTGGAGACTGTCCCTATATGAACCTCAGTTTTCCACTGACTGATTTTAAAGTTGATTATTATTTTTTACTAGCCCTCTAAATGTAGTAACTTTACAGTAAATATTTGGCATTGGAGAATTTACAGTTTGACCTGGAAAATCTTTCACATATAATCTGTAATTTTGTTAAGTAAATATTTGTCAAATTGAATATGGACATTAGCACTCTCGAGTATGGCATCCACTAGCCACATGTGGTTATTGAGCATTTGTAATGTGGCTAGTCCAAACTGAGATGTGTTTTACATATAAAATACACACCAGGTTTTCAGACTTGGTATGGGAAAAGAAATGTAAAATATCTCATTAATTTTTTATATAGATTACATATGAAAATGATAATTTTTTAGATGTATTGGGGTAGATACTAAAATTAGTATCACCTGTTTTTACTTTTTAAATGTCAGTACTGGAAATTTTAAAATTCATGTGTAGCCTTCATATACATTTTTGTATTACATTTCTGTAGTGCTGATGTAGATTCCTCCTGTGGCTTAAATTTGGTTTCACATTTTATACTCCAGCTTGTTCTAAAAAATGCTGTGAGATCTTTACCTCTGAATTGGTTTGGAGTATAGACTTGATTATGACTTCTTAAATTTATGTTCTTAAATTTTACTCTGTCTTTACAAAGGGGAATAATTGTATTATAATAGCTTATGGTAGCTTTTACATGAAAATGTCCTTATTTATATAATTTAAAAGTTGTGGCAGCACAGTGGCTCACGCCTGAAATCCCAGCACTTTGAGGCTGAGACAGAAGGATTGCTTGAACCCAGAAGTTGGAAACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAAAAATTTTTTTAGTTAACTAGGTGTGGTGGCGTGTGCCTGTAGTCCCAGTTACTTGGGAGGCTGAAGTGGGAGCATCATTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTCTGATTATGCCACTGCACTCCAGCCTGGGTGACAAGAGTGTGACCCTGTCTCAAAAAAGGAAAAAAAAGTTGTGGGGAAGGGGTTTTGAATTTATATGTATGTTAACCTGATTTTATTTTTAATTTATTTTTGGTATTTAGCTTGTAGACCCTGGAGTTAAGGCATGGACACCCACTAAAGGAAAACAAAATGTGATTATGTTTGTTGGATTGCAAGGGAGTGGTAAAACAACAACATGTTCAAAGGTAAATTGAACTTAATTTAAAAAGAAGTCATATGGAAGATAGGTTTGTATAAATCAAGTTTTGTATTTAATATAAAAATGTAAAGCCTGGCTTTATAATGTTGAAATATATATTTTATTAATTATAATTATTAGAATGCATTTATATATTATAAATAATGTTATTTTATATAAAATATATTTACATAAAATATATTTATATTATAATAAAATATATTTACATAAAATATATTTTATTAAAATATATTTATATTATAATAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATTAAAATATATTAATAACATATTAAGATATAAAGCCAGGCTTTATAATATTGTTGCTTTATAATTTTGTGTTACTTGATGTATGTTTTTAAATAGTTTTTTTTAGGATAAGAGGAGAGGTCCTCATAGTTTCTTATGATTTTTTTTTTGTAAGAAGGTAGACATCTGTAACTATGCTATTTCTTTTATTAAAAAAAGACCATTCCTATCCTTTCAGGAAGTGAGTGTGTGATTTTTGGAGAAGAGAACATGGAGTTTACTTTATCCTCTATGGCTCAGGACTCCTTTTTCAGGTTCCCACCCAGCATACTATAGATCTTCATTTTGTGTATCCTTATGCCATATTTTTTTAGACAGAGTCTTACTTTTATTGCCCAAGCTTGAGTGCAGTGGCACGCAAACATAGCTTACTGTAGCCTTGACCGCTTTATGCTAATTTTTAATTCAGTTTACCACTCCTTTCTCCCAAATTGCATGTCTCAACAATATTACAAGATTTTTCCACAAGCTTCACGTATGTTACAGTTTGAGAGGGAAAAAGAGAAAAGGATGATTTTTAGATCGTTTTGTTGTTGTTTGTTTTTAATTAACATTAATAGTAGTTAACATTTTTTGCTATGATCATTTGCTACTTGATCATTTTATATTTGAATGCTACTGCATGACAATTAGAATATAAAACTTTGTAGGAAATTTGCCACATTCAAAAATCTTTAATAATATTTTCAGGAGAATTATAAGCAGTTTTATTTTACTCCTTAGGTAAATAATAAGGAAAAACAGAAAAAATTATATGTATAGTTTGTTATATTTTATGATATTATATTTTTAAATCTTTTCTCACCCAGCTAGCATATTATTACCAGAGGAAAGGTTGGAAGACCTGTTTAATATGTGCAGACACATTCAGAGCAGGTAATGTCTTGAAATTTGAAAATTGTTTTATATAATTTTTATTTTCAAGTTTGAGGATTCATGAACTCTTTATCTTCCAGGGGCTTTTGACCAACTAAAACAGAATGCTACCAAAGCAAGAATTCCATTTTATGGAAGGTAGGTTACTGTTTTTTATTTTAACACTTATATCCCTCTTCTTGTCTGTCAGCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGGGTGCAATGGTGCGATCTTGGCTCACTGCAACCACCACCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCTTCCTGAGTAACTGGGATTACAGGTGCCCACCACCATGCCCATCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGACCATGCCCTGCTAATTTTTTTAAAAACTTTTTGTAAAGACCCTGTCTTATAAAATATCCTTTGTTGCCCAGGCTGGTCCCAAGCTCCTGGGCTCAAATGATCCTCCCACCTCAGCCTCCCGAAGGGCTGGGATTACAGGCTTGAGCCACTGTATGCAGCCACACACATGTTCTTATTAAGTGTATTTCTATCTGAGTTTTTGGTGGTGGTTCTTAATTTAGGGGAAAAACTT
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GTAAGACCCTGTCTCAAAAAAACAAAAAAAGTGGTAAATGAATGGGCATGACTGTATTAGATTGAAATTTTTTTCAATGTAATAACTAGAAATGTAATAACTTTACAGCCTGTTGCCCAGGCCGGAGTACAGTGGCCTGATGATAGCTCATTGCAGTCTCAAACTCCTGGGCTCAAGCAATCTTACTGCCTCAGCCTCCTTGATTAGCTGGGACCACAGGTGCGTGCCACCACACCTGGCCAATTCTTTAAATTAGTAGAGACAAGATCTTGCTATGCTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAATGAATCCTCCTCCTTTGTCCCCCCGCTGAAAGGGCCGGGATTATAGGCATGAGCCACCACACCCAGCCTCCATTGAAACTTTATTTGCACATAGTTTACCAACCCCTGATCTAGGACATTAACTATTATAGATTTATTATTTTATCATACATTTCAAGCTCCAAACAACTGACCCCCAAGTGAATTATTTTTTAAATGTCCCATGCTTTTTTTTGTTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCATGCCATTCTCCTGCCTCAGCCTTCAGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCTAAATGTCCCATGCTTTTTTAATTTGGAGACTGTCCCTATATGAACCTCAGTTTTCCACTGACTGATTTTAAAGTTGATTATTATTTTTTACTAGCCCTCTAAATGTAGTAACTTTACAGTAAATATTTGGCATTGGAGAATTTACAGTTTGACCTGGAAAATCTTTCACATATAATCTGTAATTTTGTTAAGTAAATATTTGTCAAATTGAATATGGACATTAGCACTCTCGAGTATGGCATCCACTAGCCACATGTGGTTATTGAGCATTTGTAATGTGGCTAGTCCAAACTGAGATGTGTTTTACATATAAAATACACACCAGGTTTTCAGACTTGGTATGGGAAAAGAAATGTAAAATATCTCATTAATTTTTTATATAGATTACATATGAAAATGATAATTTTTTAGATGTATTGGGGTAGATACTAAAATTAGTATCACCTGTTTTTACTTTTTAAATGTCAGTACTGGAAATTTTAAAATTCATGTGTAGCCTTCATATACATTTTTGTATTACATTTCTGTAGTGCTGATGTAGATTCCTCCTGTGGCTTAAATTTGGTTTCACATTTTATACTCCAGCTTGTTCTAAAAAATGCTGTGAGATCTTTACCTCTGAATTGGTTTGGAGTATAGACTTGATTATGACTTCTTAAATTTATGTTCTTAAATTTTACTCTGTCTTTACAAAGGGGAATAATTGTATTATAATAGCTTATGGTAGCTTTTACATGAAAATGTCCTTATTTATATAATTTAAAAGTTGTGGCAGCACAGTGGCTCACGCCTGAAATCCCAGCACTTTGAGGCTGAGACAGAAGGATTGCTTGAACCCAGAAGTTGGAAACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAAAAATTTTTTTAGTTAACTAGGTGTGGTGGCGTGTGCCTGTAGTCCCAGTTACTTGGGAGGCTGAAGTGGGAGCATCATTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTCTGATTATGCCACTGCACTCCAGCCTGGGTGACAAGAGTGTGACCCTGTCTCAAAAAAGGAAAAAAAAGTTGTGGGGAAGGGGTTTTGAATTTATATGTATGTTAACCTGATTTTATTTTTAATTTATTTTTGGTATTTAGCTTGTAGACCCTGGAGTTAAGGCATGGACACCCACTAAAGGAAAACAAAATGTGATTATGTTTGTTGGATTGCAAGGGAGTGGTAAAGCAACAACATGTTCAAAGGTAAATTGAACTTAATTTAAAAAGAAGTCATATGGAAGATAGGTTTGTATAAATCAAGTTTTGTATTTAATATAAAAATGTAAAGCCTGGCTTTATAATGTTGAAATATATATTTTATTAATTATAATTATTAGAATGCATTTATATATTATAAATAATGTTATTTTATATAAAATATATTTACATAAAATATATTTATATTATAATAAAATATATTTACATAAAATATATTTTATTAAAATATATTTATATTATAATAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACATTAAAATATATTAATAACATATTAAGATATAAAGCCAGGCTTTATAATATTGTTGCTTTATAATTTTGTGTTACTTGATGTATGTTTTTAAATAGTTTTTTTTAGGATAAGAGGAGAGGTCCTCATAGTTTCTTATGATTTTTTTTTTGTAAGAAGGTAGACATCTGTAACTATGCTATTTCTTTTATTAAAAAAAGACCATTCCTATCCTTTCAGGAAGTGAGTGTGTGATTTTTGGAGAAGAGAACATGGAGTTTACTTTATCCTCTATGGCTCAGGACTCCTTTTTCAGGTTCCCACCCAGCATACTATAGATCTTCATTTTGTGTATCCTTATGCCATATTTTTTTAGACAGAGTCTTACTTTTATTGCCCAAGCTTGAGTGCAGTGGCACGCAAACATAGCTTACTGTAGCCTTGACCGCTTTATGCTAATTTTTAATTCAGTTTACCACTCCTTTCTCCCAAATTGCATGTCTCAACAATATTACAAGATTTTTCCACAAGCTTCACGTATGTTACAGTTTGAGAGGGAAAAAGAGAAAAGGATGATTTTTAGATCGTTTTGTTGTTGTTTGTTTTTAATTAACATTAATAGTAGTTAACATTTTTTGCTATGATCATTTGCTACTTGATCATTTTATATTTGAATGCTACTGCATGACAATTAGAATATAAAACTTTGTAGGAAATTTGCCACATTCAAAAATCTTTAATAATATTTTCAGGAGAATTATAAGCAGTTTTATTTTACTCCTTAGGTAAATAATAAGGAAAAACAGAAAAAATTATATGTATAGTTTGTTATATTTTATGATATTATATTTTTAAATCTTTTCTCACCCAGCTAGCATATTATTACCAGAGGAAAGGTTGGAAGACCTGTTTAATATGTGCAGACACATTCAGAGCAGGTAATGTCTTGAAATTTGAAAATTGTTTTATATAATTTTTATTTTCAAGTTTGAGGATTCATGAACTCTTTATCTTCCAGGGGCTTTTGACCAACTAAAACAGAATGCTACCAAAGCAAGAATTCCATTTTATGGAAGGTAGGTTACTGTTTTTTATTTTAACACTTATATCCCTCTTCTTGTCTGTCAGCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGGGTGCAATGGTGCGATCTTGGCTCACTGCAACCACCACCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCTTCCTGAGTAACTGGGATTACAGGTGCCCACCACCATGCCCATCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGACCATGCCCTGCTAATTTTTTTAAAAACTTTTTGTAAAGACCCTGTCTTATAAAATATCCTTTGTTGCCCAGGCTGGTCCCAAGCTCCTGGGCTCAAATGATCCTCCCACCTCAGCCTCCCGAAGGGCTGGGATTACAGGCTTGAGCCACTGTATGCAGCCACACACATGTTCTTATTAAGTGTATTTCTATCTGAGTTTTTGGTGGTGGTTCTTAATTTAGGGGAAAAACTT
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Task1_train_19697
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This variant affects the gene SRP54 (signal recognition particle 54) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Neutropenia, severe congenital, 8, autosomal dominant
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ATGCTTCATGCTTTTTTAGAAGTAGATTCTGTATTTAATACTTTATAGATTTTCCTCTTCTAAATTGAAATTGGGGTCATTTTGGCTTTTTCAAAATAGATTATAGGTAAATTAACTTTCCGAATTAGTAGTATTTGGAAGTTTTGTCGTTTTGTTAAATCATTTGTCCATGTTATATAGCTATACAGAAATGGATCCTGTCATCATTGCTTCTGAAGGAGTAGAGAAATTTAAAAATGAAAATTTTGAAATTATTATTGTTGATACAAGTGGCCGCCACAAACAAGAAGACTCTTTGTTTGAAGAAATGCTTCAAGTTGCTAATGCTATAGTAAGTAGCTTTCAATGTAACACTATTATTAGGACTTTGGTTAATTTAATTATAAAACCAGGTTGAGTATATGACCAATATAAATTATTCTTTGCCTGTGAGGCAGATCCCCAGTAATTTATTTTTGTTTTGGGCACCTATATCTATGTGGTAGGGACTTAATTTCATTATTTTTGTTCTCCATTAAATATAAAATTTTCATAAGTATGAAAAAGTAATTTCCTTTCTCAGTCATCCTATTAGTATGCATAAGAAAACATTTAAAAATTAGTAATTAGGCCGGGTATGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGATGGATCACAAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACCTGGGAGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAATTAGTAATTAGCCTTTAGTTTCTGTTGAATTTCCTTTTTAAAAATTCAGTTGGAAATACTTAGATTTTTAAATACTTTAAAAAATATTAATTATCATTTTGTGTCTCTTTAAAAGTGTGATGGAAACAATTTGGGGGAGGAGAAGCAGTTTATAGATATCTGCAGCATATATTATTAGGAACCCACGTCTTGACATTGGAGTGTTAGCAGTAATTCTTTGGTTTGTGGTTAATGCTAATAAGTTTCTTTTCAGTTATGTTGTTATTTTGACCAAGTTGAGCAGATCTAAGGGAAGTAGCCTCAAGTATATTTTATCCGTTTTCAGTATACACTCTTCTACTTTGATTTGCCTTTGTACTTTTTTTGCCTAGATTGCCATTCTTTCAAATCTTTGCATATAACCTTTTCCTCTTTATTCAGGCCTCAGCTCAAACATTAGGTCCAGAGAGGCCTTCCCTGACTACCTTACTAGAAAATGCCTCCCATACTTCAAAACTGATACTCTGTATCCCATTTTCGTTGTTATACATCTGAAATGTTTATCTATTTATTATATATGTCCTCTGACTAGAATGCAAGTTTCTTAGGACAAATATTTTCTCATTTACCTTTTTGTTCTCATGACCTAGATGGTACCTGATAATACATAGTACTTCAACAAATATTTATGGATTGAATAATTATTTATAGTGTAAATGTTGTAGTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTGACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCTCAAGTAGCTGGGATTACAGGCACTCGCCACCATGCCTGGCTAATTTTTGTATGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTCACCATGTTGGCCAGGCTGGTCTTGAACTATCTCAGGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCTCTAAATATTGTTTTATAGCTTCTAATGATGACATTTGCTTAGGATCAATAAAAATCTTTTCTAAAGTATCTTTTCTATTTAAACTTTCTAGCAACCTGATAACATTGTTTATGTGATGGATGCCTCCATTGGGCAGGCTTGTGAAGCCCAGGCTAAGGCTTTTAAAGATAAAGTAGATGTAGCCTCAGTAATAGTGACAAAACTTGATGGCCATGCAAAAGGAGGTGGTGCACTCAGTGCGTAAGTATCATTGATACTGTTGTCCTCTGTCTTGGGATTATATGGGGAAGGATATGTGTTTATAGCTTTCATATTGATCATTTAAAATATGTTTCAATAGTGAGCCTAATATGGTTTATAAAGAAAGTTTAAATAGAAACAATTTTGGAGCCTGTCTGATATAGGTCTATTATAACTTGTGAAATGAAACTTGAGTTTTGTACCTTTGTCTAATTAGCTTTGGAGGCGGATTCACTTCGAATTTCAGATCTGCTGGAAATTTGTGGGGTTCTTTTGAGGTTATTTTATATTTTCTTTTTTTTTCCAGAGTCGCTGCCACAAAAAGTCCGATTATTTTCATTGGTACAGGGGAACATATAGATGACTTTGAACCTTTCAAAACACAGCCTTTTATTAGCAAACTTCTTGGTATGTACAGTGGTGGGGATATAGAAAAATCTCCAAGAAATACGATGTATCTTTAGGACAAAATAGGATTTTAATTCTGTCCTCACTAATTTAAGCACATCATTTCTTTCTGTGACTTAGTTTCCTTACCTGTAAAATAGAGATAATGGTTATCTGCCCTCTGTGGTGAAAGTGGTAAAATGAGGTATCTAGTAGAAAGTTCTTTGGAAAAGTTTTAGAGCACAGTACAAAAACAAGTGGTTTTAATAATAGTGGATGTAAGGGCAGTAATACTTTGGCAATGTCTCAAGGTGGTATAGTTAGAGAGCATGGAATTTGGAGTTAAACCCTGGGCTGCAGTCCTTGCTTTGCCACTTGTTTGTTGCCACTTAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGGGATCTCAGTTCACTGCACCTTCAGCCTCCCGGGTTCAAGCGATTTTCCTGCCTTAGCCTCCCAGGTAGCTGGGATTACAGGCGTGCACCACCAGGTCCAGCTAATTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCATGCCACTTAACTTTCTTAGCTTTGGTTTTCTCATTTGTGTAGTGTAGTAAGAATACCTAACCTATTATAACCTCACAAGGTTATTATGTATGTGAATGTGTTTTGTATAATGTGAAGCAGGGTATAGTATTAGTTGTTAATTTTTCTTTTTTGTATCTTATAGGTATGGGCGACATTGAAGGACTGATAGATAAAGTCAACGAGTTGAAGTTGGATGACAATGAAGCACTTATAGAGAAGTTGAAACATGGTATATGAGTGACAAAAAAGCACTTCATCTCAGATTTCTTCCATTGATTTTTTTTATAAAGTTACTATTAAGTTATTTGAAATGTAATATCTGTTAGAGTCAGATCTTCCACTGCTTATTATTTTAGATGATTTATATGCAAATCATTTAAAATCTCAGGTACCTGAGCAGTTACAGAATTCAGTGTTTTTATTTTCTTTATTGTAATAAAATTAAGATTAAAATAAGGCTTTCACTAGGTTCCTTGAAGTTTTTCTGTTTTTTAAGACAGAGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACCGCAAACTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACGGGCACGTACCACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAACCACTGTGCTTGGCCGGTTCCTTGAAGTTAAACAGGTTAAAAGTAAGTTAGAACACAAGGATGA
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ATGCTTCATGCTTTTTTAGAAGTAGATTCTGTATTTAATACTTTATAGATTTTCCTCTTCTAAATTGAAATTGGGGTCATTTTGGCTTTTTCAAAATAGATTATAGGTAAATTAACTTTCCGAATTAGTAGTATTTGGAAGTTTTGTCGTTTTGTTAAATCATTTGTCCATGTTATATAGCTATACAGAAATGGATCCTGTCATCATTGCTTCTGAAGGAGTAGAGAAATTTAAAAATGAAAATTTTGAAATTATTATTGTTGATACAAGTGGCCGCCACAAACAAGAAGACTCTTTGTTTGAAGAAATGCTTCAAGTTGCTAATGCTATAGTAAGTAGCTTTCAATGTAACACTATTATTAGGACTTTGGTTAATTTAATTATAAAACCAGGTTGAGTATATGACCAATATAAATTATTCTTTGCCTGTGAGGCAGATCCCCAGTAATTTATTTTTGTTTTGGGCACCTATATCTATGTGGTAGGGACTTAATTTCATTATTTTTGTTCTCCATTAAATATAAAATTTTCATAAGTATGAAAAAGTAATTTCCTTTCTCAGTCATCCTATTAGTATGCATAAGAAAACATTTAAAAATTAGTAATTAGGCCGGGTATGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGATGGATCACAAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACCTGGGAGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAATTAGTAATTAGCCTTTAGTTTCTGTTGAATTTCCTTTTTAAAAATTCAGTTGGAAATACTTAGATTTTTAAATACTTTAAAAAATATTAATTATCATTTTGTGTCTCTTTAAAAGTGTGATGGAAACAATTTGGGGGAGGAGAAGCAGTTTATAGATATCTGCAGCATATATTATTAGGAACCCACGTCTTGACATTGGAGTGTTAGCAGTAATTCTTTGGTTTGTGGTTAATGCTAATAAGTTTCTTTTCAGTTATGTTGTTATTTTGACCAAGTTGAGCAGATCTAAGGGAAGTAGCCTCAAGTATATTTTATCCGTTTTCAGTATACACTCTTCTACTTTGATTTGCCTTTGTACTTTTTTTGCCTAGATTGCCATTCTTTCAAATCTTTGCATATAACCTTTTCCTCTTTATTCAGGCCTCAGCTCAAACATTAGGTCCAGAGAGGCCTTCCCTGACTACCTTACTAGAAAATGCCTCCCATACTTCAAAACTGATACTCTGTATCCCATTTTCGTTGTTATACATCTGAAATGTTTATCTATTTATTATATATGTCCTCTGACTAGAATGCAAGTTTCTTAGGACAAATATTTTCTCATTTACCTTTTTGTTCTCATGACCTAGATGGTACCTGATAATACATAGTACTTCAACAAATATTTATGGATTGAATAATTATTTATAGTGTAAATGTTGTAGTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTGACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCTCAAGTAGCTGGGATTACAGGCACTCGCCACCATGCCTGGCTAATTTTTGTATGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTCACCATGTTGGCCAGGCTGGTCTTGAACTATCTCAGGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCTCTAAATATTGTTTTATAGCTTCTAATGATGACATTTGCTTAGGATCAATAAAAATCTTTTCTAAAGTATCTTTTCTATTTAAACTTTCTAGCAACCTGATAACATTGTTTATGTGATGGATGACTCCATTGGGCAGGCTTGTGAAGCCCAGGCTAAGGCTTTTAAAGATAAAGTAGATGTAGCCTCAGTAATAGTGACAAAACTTGATGGCCATGCAAAAGGAGGTGGTGCACTCAGTGCGTAAGTATCATTGATACTGTTGTCCTCTGTCTTGGGATTATATGGGGAAGGATATGTGTTTATAGCTTTCATATTGATCATTTAAAATATGTTTCAATAGTGAGCCTAATATGGTTTATAAAGAAAGTTTAAATAGAAACAATTTTGGAGCCTGTCTGATATAGGTCTATTATAACTTGTGAAATGAAACTTGAGTTTTGTACCTTTGTCTAATTAGCTTTGGAGGCGGATTCACTTCGAATTTCAGATCTGCTGGAAATTTGTGGGGTTCTTTTGAGGTTATTTTATATTTTCTTTTTTTTTCCAGAGTCGCTGCCACAAAAAGTCCGATTATTTTCATTGGTACAGGGGAACATATAGATGACTTTGAACCTTTCAAAACACAGCCTTTTATTAGCAAACTTCTTGGTATGTACAGTGGTGGGGATATAGAAAAATCTCCAAGAAATACGATGTATCTTTAGGACAAAATAGGATTTTAATTCTGTCCTCACTAATTTAAGCACATCATTTCTTTCTGTGACTTAGTTTCCTTACCTGTAAAATAGAGATAATGGTTATCTGCCCTCTGTGGTGAAAGTGGTAAAATGAGGTATCTAGTAGAAAGTTCTTTGGAAAAGTTTTAGAGCACAGTACAAAAACAAGTGGTTTTAATAATAGTGGATGTAAGGGCAGTAATACTTTGGCAATGTCTCAAGGTGGTATAGTTAGAGAGCATGGAATTTGGAGTTAAACCCTGGGCTGCAGTCCTTGCTTTGCCACTTGTTTGTTGCCACTTAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGGGATCTCAGTTCACTGCACCTTCAGCCTCCCGGGTTCAAGCGATTTTCCTGCCTTAGCCTCCCAGGTAGCTGGGATTACAGGCGTGCACCACCAGGTCCAGCTAATTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCATGCCACTTAACTTTCTTAGCTTTGGTTTTCTCATTTGTGTAGTGTAGTAAGAATACCTAACCTATTATAACCTCACAAGGTTATTATGTATGTGAATGTGTTTTGTATAATGTGAAGCAGGGTATAGTATTAGTTGTTAATTTTTCTTTTTTGTATCTTATAGGTATGGGCGACATTGAAGGACTGATAGATAAAGTCAACGAGTTGAAGTTGGATGACAATGAAGCACTTATAGAGAAGTTGAAACATGGTATATGAGTGACAAAAAAGCACTTCATCTCAGATTTCTTCCATTGATTTTTTTTATAAAGTTACTATTAAGTTATTTGAAATGTAATATCTGTTAGAGTCAGATCTTCCACTGCTTATTATTTTAGATGATTTATATGCAAATCATTTAAAATCTCAGGTACCTGAGCAGTTACAGAATTCAGTGTTTTTATTTTCTTTATTGTAATAAAATTAAGATTAAAATAAGGCTTTCACTAGGTTCCTTGAAGTTTTTCTGTTTTTTAAGACAGAGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACCGCAAACTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACGGGCACGTACCACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAACCACTGTGCTTGGCCGGTTCCTTGAAGTTAAACAGGTTAAAAGTAAGTTAGAACACAAGGATGA
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Task1_train_19698
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A mutation found in SRP54 (signal recognition particle 54) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Neutropenia, severe congenital, 8, autosomal dominant
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TTGGGCACCTATATCTATGTGGTAGGGACTTAATTTCATTATTTTTGTTCTCCATTAAATATAAAATTTTCATAAGTATGAAAAAGTAATTTCCTTTCTCAGTCATCCTATTAGTATGCATAAGAAAACATTTAAAAATTAGTAATTAGGCCGGGTATGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGATGGATCACAAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACCTGGGAGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAATTAGTAATTAGCCTTTAGTTTCTGTTGAATTTCCTTTTTAAAAATTCAGTTGGAAATACTTAGATTTTTAAATACTTTAAAAAATATTAATTATCATTTTGTGTCTCTTTAAAAGTGTGATGGAAACAATTTGGGGGAGGAGAAGCAGTTTATAGATATCTGCAGCATATATTATTAGGAACCCACGTCTTGACATTGGAGTGTTAGCAGTAATTCTTTGGTTTGTGGTTAATGCTAATAAGTTTCTTTTCAGTTATGTTGTTATTTTGACCAAGTTGAGCAGATCTAAGGGAAGTAGCCTCAAGTATATTTTATCCGTTTTCAGTATACACTCTTCTACTTTGATTTGCCTTTGTACTTTTTTTGCCTAGATTGCCATTCTTTCAAATCTTTGCATATAACCTTTTCCTCTTTATTCAGGCCTCAGCTCAAACATTAGGTCCAGAGAGGCCTTCCCTGACTACCTTACTAGAAAATGCCTCCCATACTTCAAAACTGATACTCTGTATCCCATTTTCGTTGTTATACATCTGAAATGTTTATCTATTTATTATATATGTCCTCTGACTAGAATGCAAGTTTCTTAGGACAAATATTTTCTCATTTACCTTTTTGTTCTCATGACCTAGATGGTACCTGATAATACATAGTACTTCAACAAATATTTATGGATTGAATAATTATTTATAGTGTAAATGTTGTAGTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTGACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCTCAAGTAGCTGGGATTACAGGCACTCGCCACCATGCCTGGCTAATTTTTGTATGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTCACCATGTTGGCCAGGCTGGTCTTGAACTATCTCAGGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCTCTAAATATTGTTTTATAGCTTCTAATGATGACATTTGCTTAGGATCAATAAAAATCTTTTCTAAAGTATCTTTTCTATTTAAACTTTCTAGCAACCTGATAACATTGTTTATGTGATGGATGCCTCCATTGGGCAGGCTTGTGAAGCCCAGGCTAAGGCTTTTAAAGATAAAGTAGATGTAGCCTCAGTAATAGTGACAAAACTTGATGGCCATGCAAAAGGAGGTGGTGCACTCAGTGCGTAAGTATCATTGATACTGTTGTCCTCTGTCTTGGGATTATATGGGGAAGGATATGTGTTTATAGCTTTCATATTGATCATTTAAAATATGTTTCAATAGTGAGCCTAATATGGTTTATAAAGAAAGTTTAAATAGAAACAATTTTGGAGCCTGTCTGATATAGGTCTATTATAACTTGTGAAATGAAACTTGAGTTTTGTACCTTTGTCTAATTAGCTTTGGAGGCGGATTCACTTCGAATTTCAGATCTGCTGGAAATTTGTGGGGTTCTTTTGAGGTTATTTTATATTTTCTTTTTTTTTCCAGAGTCGCTGCCACAAAAAGTCCGATTATTTTCATTGGTACAGGGGAACATATAGATGACTTTGAACCTTTCAAAACACAGCCTTTTATTAGCAAACTTCTTGGTATGTACAGTGGTGGGGATATAGAAAAATCTCCAAGAAATACGATGTATCTTTAGGACAAAATAGGATTTTAATTCTGTCCTCACTAATTTAAGCACATCATTTCTTTCTGTGACTTAGTTTCCTTACCTGTAAAATAGAGATAATGGTTATCTGCCCTCTGTGGTGAAAGTGGTAAAATGAGGTATCTAGTAGAAAGTTCTTTGGAAAAGTTTTAGAGCACAGTACAAAAACAAGTGGTTTTAATAATAGTGGATGTAAGGGCAGTAATACTTTGGCAATGTCTCAAGGTGGTATAGTTAGAGAGCATGGAATTTGGAGTTAAACCCTGGGCTGCAGTCCTTGCTTTGCCACTTGTTTGTTGCCACTTAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGGGATCTCAGTTCACTGCACCTTCAGCCTCCCGGGTTCAAGCGATTTTCCTGCCTTAGCCTCCCAGGTAGCTGGGATTACAGGCGTGCACCACCAGGTCCAGCTAATTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCATGCCACTTAACTTTCTTAGCTTTGGTTTTCTCATTTGTGTAGTGTAGTAAGAATACCTAACCTATTATAACCTCACAAGGTTATTATGTATGTGAATGTGTTTTGTATAATGTGAAGCAGGGTATAGTATTAGTTGTTAATTTTTCTTTTTTGTATCTTATAGGTATGGGCGACATTGAAGGACTGATAGATAAAGTCAACGAGTTGAAGTTGGATGACAATGAAGCACTTATAGAGAAGTTGAAACATGGTATATGAGTGACAAAAAAGCACTTCATCTCAGATTTCTTCCATTGATTTTTTTTATAAAGTTACTATTAAGTTATTTGAAATGTAATATCTGTTAGAGTCAGATCTTCCACTGCTTATTATTTTAGATGATTTATATGCAAATCATTTAAAATCTCAGGTACCTGAGCAGTTACAGAATTCAGTGTTTTTATTTTCTTTATTGTAATAAAATTAAGATTAAAATAAGGCTTTCACTAGGTTCCTTGAAGTTTTTCTGTTTTTTAAGACAGAGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACCGCAAACTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACGGGCACGTACCACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAACCACTGTGCTTGGCCGGTTCCTTGAAGTTAAACAGGTTAAAAGTAAGTTAGAACACAAGGATGAAATTAAATATACCACATTTTCTTTACCCCACATGAAAGACCACTCCTGTAGAGAAGGATATTATTCTGATTAGGAGCTCAGGTTCTTAAATATAACATACCTGTTTTTGTATCTCTGATCTATTTTTTAGCTTTATAACTTTTTAAATTACTTAGCCTCAATTTTGTCATCTATAAAACGTACATAATACTAACTACTTCATATGGTTGTGAAGATTGCATTCGCTGATGCATGTACAATGTCTGGCACATCATAAACACTCAATGTATATTATTCTCAACCATTCCAGTTGTTCTAAAAATAATCTTTAATTACCGTAGCAACTATTCTGCCTCTTTGCTTCTTCTCACTCATCTTACCAGATAATTGTGCCTTTACTTTTCTCTTAAATGCTGGTGTTTCTCAGGGATCATTCGAAGTTATCTTTCTCAGGAGCTTCAGACTCATGTATCTGTGTTTA
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TTGGGCACCTATATCTATGTGGTAGGGACTTAATTTCATTATTTTTGTTCTCCATTAAATATAAAATTTTCATAAGTATGAAAAAGTAATTTCCTTTCTCAGTCATCCTATTAGTATGCATAAGAAAACATTTAAAAATTAGTAATTAGGCCGGGTATGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGATGGATCACAAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACCTGGGAGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAATTAGTAATTAGCCTTTAGTTTCTGTTGAATTTCCTTTTTAAAAATTCAGTTGGAAATACTTAGATTTTTAAATACTTTAAAAAATATTAATTATCATTTTGTGTCTCTTTAAAAGTGTGATGGAAACAATTTGGGGGAGGAGAAGCAGTTTATAGATATCTGCAGCATATATTATTAGGAACCCACGTCTTGACATTGGAGTGTTAGCAGTAATTCTTTGGTTTGTGGTTAATGCTAATAAGTTTCTTTTCAGTTATGTTGTTATTTTGACCAAGTTGAGCAGATCTAAGGGAAGTAGCCTCAAGTATATTTTATCCGTTTTCAGTATACACTCTTCTACTTTGATTTGCCTTTGTACTTTTTTTGCCTAGATTGCCATTCTTTCAAATCTTTGCATATAACCTTTTCCTCTTTATTCAGGCCTCAGCTCAAACATTAGGTCCAGAGAGGCCTTCCCTGACTACCTTACTAGAAAATGCCTCCCATACTTCAAAACTGATACTCTGTATCCCATTTTCGTTGTTATACATCTGAAATGTTTATCTATTTATTATATATGTCCTCTGACTAGAATGCAAGTTTCTTAGGACAAATATTTTCTCATTTACCTTTTTGTTCTCATGACCTAGATGGTACCTGATAATACATAGTACTTCAACAAATATTTATGGATTGAATAATTATTTATAGTGTAAATGTTGTAGTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTGACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCTCAAGTAGCTGGGATTACAGGCACTCGCCACCATGCCTGGCTAATTTTTGTATGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTCACCATGTTGGCCAGGCTGGTCTTGAACTATCTCAGGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCTCTAAATATTGTTTTATAGCTTCTAATGATGACATTTGCTTAGGATCAATAAAAATCTTTTCTAAAGTATCTTTTCTATTTAAACTTTCTAGCAACCTGATAACATTGTTTATGTGATGGATGCCTCCATTGGGCAGGCTTGTGAAGCCCAGGCTAAGGCTTTTAAAGATAAAGTAGATGTAGCCTCAGTAATAGTGACAAAACTTGATGGCCATGCAAAAGGAGGTGGTGCACTCAGTGCGTAAGTATCATTGATACTGTTGTCCTCTGTCTTGGGATTATATGGGGAAGGATATGTGTTTATAGCTTTCATATTGATCATTTAAAATATGTTTCAATAGTGAGCCTAATATGGTTTATAAAGAAAGTTTAAATAGAAACAATTTTGGAGCCTGTCTGATATAGGTCTATTATAACTTGTGAAATGAAACTTGAGTTTTGTACCTTTGTCTAATTAGCTTTGGAGGCGGATTCACTTCGAATTTCAGATCTGCTGGAAATTTGTGGGGTTCTTTTGAGGTTATTTTATATTTTCTTTTTTTTTCCAGAGTCGCTGCCACAAAAAGTCCGATTATTTTCATTGATACAGGGGAACATATAGATGACTTTGAACCTTTCAAAACACAGCCTTTTATTAGCAAACTTCTTGGTATGTACAGTGGTGGGGATATAGAAAAATCTCCAAGAAATACGATGTATCTTTAGGACAAAATAGGATTTTAATTCTGTCCTCACTAATTTAAGCACATCATTTCTTTCTGTGACTTAGTTTCCTTACCTGTAAAATAGAGATAATGGTTATCTGCCCTCTGTGGTGAAAGTGGTAAAATGAGGTATCTAGTAGAAAGTTCTTTGGAAAAGTTTTAGAGCACAGTACAAAAACAAGTGGTTTTAATAATAGTGGATGTAAGGGCAGTAATACTTTGGCAATGTCTCAAGGTGGTATAGTTAGAGAGCATGGAATTTGGAGTTAAACCCTGGGCTGCAGTCCTTGCTTTGCCACTTGTTTGTTGCCACTTAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGGGATCTCAGTTCACTGCACCTTCAGCCTCCCGGGTTCAAGCGATTTTCCTGCCTTAGCCTCCCAGGTAGCTGGGATTACAGGCGTGCACCACCAGGTCCAGCTAATTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCATGCCACTTAACTTTCTTAGCTTTGGTTTTCTCATTTGTGTAGTGTAGTAAGAATACCTAACCTATTATAACCTCACAAGGTTATTATGTATGTGAATGTGTTTTGTATAATGTGAAGCAGGGTATAGTATTAGTTGTTAATTTTTCTTTTTTGTATCTTATAGGTATGGGCGACATTGAAGGACTGATAGATAAAGTCAACGAGTTGAAGTTGGATGACAATGAAGCACTTATAGAGAAGTTGAAACATGGTATATGAGTGACAAAAAAGCACTTCATCTCAGATTTCTTCCATTGATTTTTTTTATAAAGTTACTATTAAGTTATTTGAAATGTAATATCTGTTAGAGTCAGATCTTCCACTGCTTATTATTTTAGATGATTTATATGCAAATCATTTAAAATCTCAGGTACCTGAGCAGTTACAGAATTCAGTGTTTTTATTTTCTTTATTGTAATAAAATTAAGATTAAAATAAGGCTTTCACTAGGTTCCTTGAAGTTTTTCTGTTTTTTAAGACAGAGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACCGCAAACTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACGGGCACGTACCACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAACCACTGTGCTTGGCCGGTTCCTTGAAGTTAAACAGGTTAAAAGTAAGTTAGAACACAAGGATGAAATTAAATATACCACATTTTCTTTACCCCACATGAAAGACCACTCCTGTAGAGAAGGATATTATTCTGATTAGGAGCTCAGGTTCTTAAATATAACATACCTGTTTTTGTATCTCTGATCTATTTTTTAGCTTTATAACTTTTTAAATTACTTAGCCTCAATTTTGTCATCTATAAAACGTACATAATACTAACTACTTCATATGGTTGTGAAGATTGCATTCGCTGATGCATGTACAATGTCTGGCACATCATAAACACTCAATGTATATTATTCTCAACCATTCCAGTTGTTCTAAAAATAATCTTTAATTACCGTAGCAACTATTCTGCCTCTTTGCTTCTTCTCACTCATCTTACCAGATAATTGTGCCTTTACTTTTCTCTTAAATGCTGGTGTTTCTCAGGGATCATTCGAAGTTATCTTTCTCAGGAGCTTCAGACTCATGTATCTGTGTTTA
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Task1_train_19699
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Here is a genetic alteration in LOC101927178, PPP2R3C (uncharacterized LOC101927178| protein phosphatase 2 regulatory subunit B''gamma) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
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AGGAGAGTCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAATGGAGTTTGCACCATTGTACTCCAGCCTGGGCGACACAGCAAGACTCGTCTCCAAAAAAAAAAAAAAAAACAGAATTCCAGTTCCTTCTGGATCATAGTTCATATTTACCTTCTTCTAATCTTTCAGCATCTCATAAAAACTAAATGTAATGTATAACTGAAGTCTTTATCCTGAATTAACATAAATTCTTTAACAAAAATCCTTAACAAAATGAAGTTTGTTTTTTGGTTTGGGACAGGGTCTTACTGTGTTGCCCAGGCTGGAGTGCAATAGTGCAATCATGGCTCACTCCAGCCTCGACCTCCTGGGCTTAAGCAGTCCTTCCCTGTCAGCCTCCTAAGGATCTGGGACTACAGGCTCACACCACCATGCCCAGCTAATGTTTTTTATTTATTTTTTGTAGAGACTTGGTTTTGCCATGTTGTCCGGGCTTGGAATTAAGTTTTGTAAAATGTAACTCTGGTATTGGTTAATAAAACTAGACAATTTTTTTTTTTTTTTTTTTGAGATGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCTCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGAACTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGTGCCCAGCCAACAAATTTTTTATACCAATGATTTTCATGAAAGTAAAATACTAGTTTGAATACATTTTATTAAAACATCCAATTAAAAGAAAGAACAAGGCTGGGCACGTGGCTCACGTATCACTGTGAATCATGGTGGCTATAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAGACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACACCTGAAGTCCCAGCTGCTTAGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTAGGAGGTGGAGGCTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGACGGAGACTGTCTCAAGAGAAAAAAAAAAAAAACCGCAAAACAAAAAGGCTGGGCGTGGTGCCTCACACCTGTAATCCCAGTACTTTGGGAGGCCGAGGCGGGCAGATGACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTGCTAAAATACAAAAATTAGCCAGGTGTGTTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCACTTGACCCCCCCTAAAAAAAAATCCTAATCCTAACCCAGAAATAAAATGGCTCTACTCATGAATGGGAAAGTTTGTCATCTTTGAGATTTTATATATATAGACACACACACACACACATGTTGTGTGTATATATATATGCACTGTCAGTCAAATATTCACATTCTAAATGACTGTCAGAAATATTCCATGGAAACTTCATCTCTGAAGATTATACAGATTTAAACTGAACATCATCTACCTACAGCAAATCACACTTCCCATCTTTGAACTAAAAGGAACCAGAACTTACCCCACCTCCTAACAAGCAATATTTGGTCCTATTGCTTCTAAACTATTGCAACCAAAATTCCAGTAACCAAAACATTTGCTGTGTTCTCTAGGCATATCAAGTGTTTTATTTAGACCATTTCTGAGGATTTTGCTTTAAAGGCTTTACATGCAGCATTCAAGTATCTCATAATATAAGACAGTCTAGTCTTTCAGAGATCATGTATCATCAAGGTCTGCAGAGTTTTCACTGTCATTTGCAACAAGAGCCTCTCTGTTCTCGTAAGTCCAGAAGCCATTCAAATCGATTAGAATGGTGGTTACTGTGTCTCCTTGATTACTGTTGATTAAATCCTGAAGAGAGATTTTCAAAGGATCCTTTGGTTTTACCATGTCAAAGATTTCATCCTGCAAGAGAAAAAAAAATACAATGAAATTTGATCCACTTAATTTCTATCACACATAGTGATCCAAAATTCAGGGCTGTTTGCATCCACTGAAGTACAGAGGAATAAAATTGAGGGCTGCCACTTGGGCTTATGTTAATTTTTTGTTCTACTTTTTTTCTTTTCCATTTAACAGGCAGTTTCCTTTTCTCTACCTACAACCACAAAATTTTATTGGATAACTCCTTAGCTATGTGATAGCTATCCTTCGTTTTATAGATGAAGAAACCAAGGCTCAGTGCCTAATCTAGCTACATAGGTAATTAGTGGCAGAACTATCTAATGCAGTGTTCAGGGACTGCACGTTAACTAGTTTCTTATATATTTTTCTGTTGCCTTCTAATTGGTGAAACAAAGTTTTGTCTGTAGTTTTTGTTTTTGTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTTACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGATGTTAAGTAATCTGCCTGCTTTGGCCTCCCAAATTGCTGGAATTATAGGTGTGAGCCACTGCGCCCAGCCTTTTTTTTTTTTTTTTGAGACAGAGTTTCACCCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCGTGTGCCACCACATCTGGCCAATTTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATATTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCTTCTTTTTTTGTGTGTGTGAGATGGAGTGTCCCTCTGTCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCGCTGCAAACTTTGCCTCCCAGGTTCAAGCCATTCTCCTGTCTTGACCTCCCAAATAGCTGGGATTACAGCCGTGTACCACCACACCCGGCTAACAAGGGTTTGGTTTAATTTTTTTTTGCTAACCGTTCAACTCAATTAAACATCTAAATGTTTCAGAGATAGTGACAAAGCTTCATTTCCAATGTTGATGTCAACATTTTGTTAGGATGGGAGAGGGGAGTTTTCTCTGGATATGCATTAGACATCCAAAAAGAAGCTAAATTCTGCTAAAACTTACTGGAACATATAGAAGACCTCCTTCTATATTATGAAGTGTACAACAGATATTTACAGGGAATTAGTACATGTTTTCTAATCTTTTTGTAGTAAAATAACTACAAAATTTGTAGTAAAATAAAATTTGTAGCAAAATTACTAAAAGTGAACAGGCTGTTTGAGGTAGCATACTAAAACAGTTTCCAAGGTAAAAAATCAGTTTACAGTTGAACAGACTGCCGTAGGATATAGACTGTACTGACTGTCTTAATTTTCTTTTTTTTCTTTTGAGATGGAGTTTCACTCTTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTCCAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGATTACATGCATGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACCTCGGATGATCCGCCCGCCTCAGCCTCCCAACGTGCTGGGATTACAAGCATGAGCCACTGAGCCCGGCCCCCTGACTGTCTTAATTAAAATGAATGAATGCTTCCAATGAAAACATAAT
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AGGAGAGTCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAATGGAGTTTGCACCATTGTACTCCAGCCTGGGCGACACAGCAAGACTCGTCTCCAAAAAAAAAAAAAAAAACAGAATTCCAGTTCCTTCTGGATCATAGTTCATATTTACCTTCTTCTAATCTTTCAGCATCTCATAAAAACTAAATGTAATGTATAACTGAAGTCTTTATCCTGAATTAACATAAATTCTTTAACAAAAATCCTTAACAAAATGAAGTTTGTTTTTTGGTTTGGGACAGGGTCTTACTGTGTTGCCCAGGCTGGAGTGCAATAGTGCAATCATGGCTCACTCCAGCCTCGACCTCCTGGGCTTAAGCAGTCCTTCCCTGTCAGCCTCCTAAGGATCTGGGACTACAGGCTCACACCACCATGCCCAGCTAATGTTTTTTATTTATTTTTTGTAGAGACTTGGTTTTGCCATGTTGTCCGGGCTTGGAATTAAGTTTTGTAAAATGTAACTCTGGTATTGGTTAATAAAACTAGACAATTTTTTTTTTTTTTTTTTTGAGATGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCTCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGAACTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGTGCCCAGCCAACAAATTTTTTATACCAATGATTTTCATGAAAGTAAAATACTAGTTTGAATACATTTTATTAAAACATCCAATTAAAAGAAAGAACAAGGCTGGGCACGTGGCTCACGTATCACTGTGAATCATGGTGGCTATAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAGACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACACCTGAAGTCCCAGCTGCTTAGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTAGGAGGTGGAGGCTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGACGGAGACTGTCTCAAGAGAAAAAAAAAAAAAACCGCAAAACAAAAAGGCTGGGCGTGGTGCCTCACACCTGTAATCCCAGTACTTTGGGAGGCCGAGGCGGGCAGATGACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTGCTAAAATACAAAAATTAGCCAGGTGTGTTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCACTTGACCCCCCCTAAAAAAAAATCCTAATCCTAACCCAGAAATAAAATGGCTCTACTCATGAATGGGAAAGTTTGTCATCTTTGAGATTTTATATATATAGACACACACACACACACATGTTGTGTGTATATATATATGCACTGTCAGTCAAATATTCACATTCTAAATGACTGTCAGAAATATTCCATGGAAACTTCATCTCTGAAGATTATACAGATTTAAACTGAACATCATCTACCTACAGCAAATCACACTTCCCATCTTTGAACTAAAAGGAACCAGAACTTACCCCACCTCCTAACAAGCAATATTTGGTCCTATTGCTTCTAAACTATTGCAACCAAAATTCCAGTAACCAAAACATTTGCTGTGTTCTCTAGGCATATCAAGTGTTTTATTTAGACCATTTCTGAGGATTTTGCTTTAAAGGCTTTACATGCAGCATTCAAGTATCTCATAATATAAGACAGTCTAGTCTTTCAGAGATCATGTATCATCAAGGTCTGCAGAGTTTTCACTGTCATTTGCAACAAGAGCCTCTCTGTTCTCGTAAGTCCAGAAGCCATTCAAATCGATTAGAATGGTGGTTACTGTGTCTTCTTGATTACTGTTGATTAAATCCTGAAGAGAGATTTTCAAAGGATCCTTTGGTTTTACCATGTCAAAGATTTCATCCTGCAAGAGAAAAAAAAATACAATGAAATTTGATCCACTTAATTTCTATCACACATAGTGATCCAAAATTCAGGGCTGTTTGCATCCACTGAAGTACAGAGGAATAAAATTGAGGGCTGCCACTTGGGCTTATGTTAATTTTTTGTTCTACTTTTTTTCTTTTCCATTTAACAGGCAGTTTCCTTTTCTCTACCTACAACCACAAAATTTTATTGGATAACTCCTTAGCTATGTGATAGCTATCCTTCGTTTTATAGATGAAGAAACCAAGGCTCAGTGCCTAATCTAGCTACATAGGTAATTAGTGGCAGAACTATCTAATGCAGTGTTCAGGGACTGCACGTTAACTAGTTTCTTATATATTTTTCTGTTGCCTTCTAATTGGTGAAACAAAGTTTTGTCTGTAGTTTTTGTTTTTGTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTTACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGATGTTAAGTAATCTGCCTGCTTTGGCCTCCCAAATTGCTGGAATTATAGGTGTGAGCCACTGCGCCCAGCCTTTTTTTTTTTTTTTTGAGACAGAGTTTCACCCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCGTGTGCCACCACATCTGGCCAATTTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATATTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCTTCTTTTTTTGTGTGTGTGAGATGGAGTGTCCCTCTGTCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCGCTGCAAACTTTGCCTCCCAGGTTCAAGCCATTCTCCTGTCTTGACCTCCCAAATAGCTGGGATTACAGCCGTGTACCACCACACCCGGCTAACAAGGGTTTGGTTTAATTTTTTTTTGCTAACCGTTCAACTCAATTAAACATCTAAATGTTTCAGAGATAGTGACAAAGCTTCATTTCCAATGTTGATGTCAACATTTTGTTAGGATGGGAGAGGGGAGTTTTCTCTGGATATGCATTAGACATCCAAAAAGAAGCTAAATTCTGCTAAAACTTACTGGAACATATAGAAGACCTCCTTCTATATTATGAAGTGTACAACAGATATTTACAGGGAATTAGTACATGTTTTCTAATCTTTTTGTAGTAAAATAACTACAAAATTTGTAGTAAAATAAAATTTGTAGCAAAATTACTAAAAGTGAACAGGCTGTTTGAGGTAGCATACTAAAACAGTTTCCAAGGTAAAAAATCAGTTTACAGTTGAACAGACTGCCGTAGGATATAGACTGTACTGACTGTCTTAATTTTCTTTTTTTTCTTTTGAGATGGAGTTTCACTCTTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTCCAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGATTACATGCATGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACCTCGGATGATCCGCCCGCCTCAGCCTCCCAACGTGCTGGGATTACAAGCATGAGCCACTGAGCCCGGCCCCCTGACTGTCTTAATTAAAATGAATGAATGCTTCCAATGAAAACATAAT
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Subsets and Splits
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