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_15500
|
Gene PAX6 (paired box 6), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; not provided
|
ATATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGC
|
ATATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCCCCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGC
|
Task1_train_15501
|
Given this variant in gene PAX6 (paired box 6) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; not provided
|
ATATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGC
|
ATATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCTCCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGC
|
Task1_train_15502
|
This alteration in PAX6 (paired box 6) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; not provided
|
TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCA
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TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCAGCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCA
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Task1_train_15503
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The variant affects gene PAX6 (paired box 6), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Aniridia 1
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TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCA
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TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCATCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCA
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Task1_train_15504
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This gene mutation involves PAX6 (paired box 6) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Irido-corneo-trabecular dysgenesis
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TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCA
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TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCATCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCA
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Task1_train_15505
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A variant found in Chromosome 11 affects PAX6 (paired box 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Aniridia 1
|
TGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATA
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TGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCCGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATA
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Task1_train_15506
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This variant lies on Chromosome 11 and affects the gene PAX6 (paired box 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Aniridia 1
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TGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATA
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TGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCGGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATA
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Task1_train_15507
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This variant lies on Chromosome 11 and affects the gene PAX6 (paired box 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Developmental cataract
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GCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCA
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GCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTGGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCA
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Task1_train_15508
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Here is a mutation in PAX6 (paired box 6) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Microphthalmia
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GCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCA
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GCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTGGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCA
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Task1_train_15509
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Here is a mutation in PAX6 (paired box 6) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Aniridia 1
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GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATG
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GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCTGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATG
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Task1_train_15510
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The gene PAX6 (paired box 6) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Irido-corneo-trabecular dysgenesis
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GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATG
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GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCTGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATG
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Task1_train_15511
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A change on Chromosome 11 affects gene PAX6 (paired box 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Irido-corneo-trabecular dysgenesis
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GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATG
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GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCTGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATG
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Task1_train_15512
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Chromosome 11 houses a mutation in gene PAX6 (paired box 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Irido-corneo-trabecular dysgenesis
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TTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGC
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TTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCAGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGC
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Task1_train_15513
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A variant has been detected on Chromosome 11 in PAX6 (paired box 6). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Aniridia 1
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TTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGC
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TTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCAGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGC
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Task1_train_15514
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An alteration has been detected in PAX6 (paired box 6) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Irido-corneo-trabecular dysgenesis
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CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCT
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CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCAGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCT
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Task1_train_15515
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This sequence change occurs on Chromosome 11, altering PAX6 (paired box 6). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Aniridia 1
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CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCT
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CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCAGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCT
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Task1_train_15516
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A variant found in Chromosome 11 affects PAX6 (paired box 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Irido-corneo-trabecular dysgenesis
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CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCT
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CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCAGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCT
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Task1_train_15517
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Assess the clinical impact of this variant on gene PAX6 (paired box 6), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Irido-corneo-trabecular dysgenesis
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CCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAAT
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CCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCTGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAAT
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Task1_train_15518
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Gene PAX6 (paired box 6), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Aniridia 1
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CCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAAT
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CCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCTGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAAT
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Task1_train_15519
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The following genetic variant occurs in PAX6 (paired box 6) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Irido-corneo-trabecular dysgenesis
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TGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGC
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TGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACAGCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGC
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Task1_train_15520
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Gene PAX6 (paired box 6), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Aniridia 1
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CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACC
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CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACGGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACC
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Task1_train_15521
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A variant was discovered in gene PAX6 (paired box 6), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Aniridia 1
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CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACC
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CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACGGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACC
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Task1_train_15522
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This alteration in PAX6 (paired box 6) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Irido-corneo-trabecular dysgenesis
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CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACC
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CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACGGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTATCGATCAAATAAAGGACAACAGGACCACCAGCCATGCCAGACATCGGGCAGCCCAGTCCAAGCAACCGTGCCCCTGCCCACTGTACTGCAGCAGCAACACAGAGTCAGACACATGCCAAGGAACAAGTACACATGGACCTCACTACAGCCATAACCCCAGCAGTGTCCCCAGCCCACTGCCCCTCTTCATAAACACTGCAGCCAGCCTCTGAACCCACAAAGCGCTAAGAACCGGCTCTATAAATCTCCCAAAGATCCCCTCTGAGTGTCACCGCAAACCATGGGTTCTACAGATCCCACACTGAACCTTCAAGGTCTCTGCAGTGTTGGGACAGTGATAGCAAACCTTACAGCCCTTGAGTGCTCCCTTAGACGCTAAAATCCAGAAATGTTTCCATCACCGTCCAAACTGGCCAAGGCCTGGCACAAGCATCGAGTTGGGTTTTGTTTGGTTAGAATAGAAGAAGGAAGAGGAGAGAACAACCAGAGCAGCCAGTATGTGGCTGGTGAACCCCAGTCCAGGTTTCCGCACCTCCAGTGCAGACGTGAGAGTCAGAGCCCGGGCTCGGCTTCAGCCACAGACAAGTCCGGCCACCGCAAGTAAGGCTTAGAGCCGGGAGTCGGTTCGCACCAGCCACTGCTCGCTTTATTTCCGCCGCTGAACTCCGCCCTCCCCTTAGCCAAGGATAGATATTATCAAAAAGAAAAAACAGAAAAGAAAAATACCACATCATAGTGTTCCCCATCCCTCCTTTATCTTTGTATCTCACAACCTCATCCCTGTGGTCCAACCTTAGAGAATAGGGAGAGGGAGTTAGCCCCTCTTTGTAGTCCCCCTCCCCAAAAACCACAGACACACAAAGCCAATTGCCAATTTCCACTTCCTTAAAAATCTCCAACCTGCAGCCCCGACTTAGATAGCAGCCCTCCCAGGAAAAGACGTGGCTCCCTGTTCAGCTCTCCTCTCCTCTCCTCTCTTCTCCTTGGAGCCTACTGATAAATTGACGCCAGGAGCCTGAGCTTCTTAGCAATAAATAAGCTCCAAATATAGAAGAGGGGGGAAAATATGATGAGCCTCTCTGACATTTGTCTTTAAAATAAAACTAGCTGCACGTCAAGTTTGAGCTTAATTTCTGGAAATAGGCGGAAGTCGCTCCGGATCATGCATGGAAGGCTAATTGAAAAGATCAGTCGGGGCGCTTGTGGCAGCCTTGTCACTTTGTGACAGTGCTCCGCTCCGGGAAATTGCATCGTCACGACAAACGGGACCGTGATAAAACGACCCTTTCCGTCCTTATTTGTAGATCACTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACC
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Task1_train_15523
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Here’s a variant in PAX6 (paired box 6) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Aniridia 1
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CTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGCATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAAC
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CTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTACATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAAC
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Task1_train_15524
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Gene PAX6 (paired box 6) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Irido-corneo-trabecular dysgenesis
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CTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGCATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAAC
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CTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTACATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAAC
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Task1_train_15525
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Given this variant in gene PAX6 (paired box 6) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Aniridia 1
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TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGCATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACT
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TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGAATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACT
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Task1_train_15526
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Here’s a variant in PAX6 (paired box 6) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Aniridia 1
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TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGCATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACT
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TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGTATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACT
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Task1_train_15527
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Assess the clinical impact of this variant on gene PAX6 (paired box 6), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Irido-corneo-trabecular dysgenesis
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TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGCATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACT
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TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGTATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACT
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Task1_train_15528
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The gene PAX6 (paired box 6) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Irido-corneo-trabecular dysgenesis
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AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGCATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACTCT
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AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGCACGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACTCT
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Task1_train_15529
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The following genetic variant occurs in PAX6 (paired box 6) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Aniridia 1
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AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGCATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACTCT
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AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGCAGGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACTCT
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Task1_train_15530
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An alteration has been detected in PAX6 (paired box 6) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Irido-corneo-trabecular dysgenesis
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AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGCATGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACTCT
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AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACAGGAAGCTTCCCGGAAAAAGAAAGGCTGTCCCAGAAAGAGACCGAGAGAGACTTTCCAAACTTCGGGCATAGCCACGGCAATTCCCAGTCTGCTAATGCCAAGGCGGGCGCGTAAGGCCGCCTAAATCTAGACCTCCCTCCTCACTCATTTCAAAAAATAACAACGTGCCAGCCACCTCCGCAGATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAACGCTCAGGGCTGCGCGCCCTGGCTGGGGCCCGCCCGAGAGACAGCCTGCGGCTGGGGAGTCTGAGCTCCAAGGGGAGAGCCCAGCCGCCGAAGGCGAGCCTACCGGCCAAGCCCTGGGGTCCGGCAGGTTCTGCACAACTACTCCCGCAAAGCTCGCCACCTTTGTGCCCTTTCCTCAGCTACGCGCTTACCAGCCCCGGAAGCACCAGGGGGCGACCGGCGTTTCCAAAACAGATGGATAAGGTGCTGGGGACCCTCCTTAAGCCTGTGTGGTTCGGCCAGGGCAGGCTGCTGGAAGACCCGGGCCTTTCCACACTTTGAGTTCAGTTGAGCCCCGACGCCGTGTGCCTCAACCGTAACCTCAAACCGGGCCTGGTTTCGCTGGGCCTCCAGGCTCCCAGGTCGGAGCTCTAGACTAGCCCTGCCGCGTACCAGCACCCACCACGAACAGGAAGGTGGGTGGGACCCCACGGGGTCTGGGCAGAGGAAAGCAGGGAGGTACAAGGGCCATAAGTATCAAAAGCGCTCTGGGCCTGGGACTATCAGGACCCAAGCAATTGCAGTTGCCAGGGCAGGGATTTTCCAATTCCTGGGCACCTCCTTACCAGACCCAGTAAACCGTGCTCTCTCCCGCGCCCTGTAACAGCGAGTTTACCACCCCTACCCTGCTGCAGGCCTGGGGGCTCCTCTCCCCATCCCTTCTAGGCCCGTAGTGGGGTGAGGAGGGGAGGAGCTGCCCTGAGAGTGACTTGGGGAGAGAAGCCCCCAACCCCGCCGGGTTGGTGGAGACTTTCAGTCTTGGCTAAGCCCAAAGGGGCCTCCTTCTCGCTCAACTAGGAGAAGACTTCGCCCCGCCCTGATCAGCCCAGCCCCTCTCTCCGGGGTCAGAGCCCGGGCAGGGGCGAGAGGGGGTGTGAGTTACAGGATTTGGGGGGGATGGGGTTTCTCTACCGCAGCTTCGAAAACTCGGGCGGGCTGTTCTTAAGGGCCCAGCCCCTGCTTCTCCAGTATCGAGAAGAGCCAAGCAAACGCCCTCCCCTCCCGGGCTGCCGGGCGCGGAGCGGGGAGCAGCCGCCGCAGGTCCCCGGGCCTCAGTCGGTCGGCGGCCGGGCCAGCGCGGGCGTCGCGAGTCCCTGTGTCCTCCCCTGACCCTCGGGTCCGCGCACCCCGAGCCCGAAGTCCCAGAAAGACCAGAGGCACTTACTGTTCTGCAGGCTGGCTCTGGCTGGGGGCCGCGGGATTCCACGGGGCTCGAATATGGGGCTCTGTTAGCAAGAAAATAGGAGTTAATCCTCGGGCAGCTGCATCAGGTAGGCCTGAACTCCCAACCGAGGTGGACCTGGGGCTAGGACAGGAGAATCTCCGTTCTTTAGGAATTGATCCACTCAACCTCTTGGGGCGATCTGAGGGTCACTCAGCTCTGCCCTGCAGTGCATACAAAATCTACCCTTTGGGGCTTGAAACAAAGTACTGGAATATCCCCAATCTGTTTCCCCTACATTCTTTAGCAGTTAACCCTTTAATCAGTAGAAGCGATGCCCCAATTTTGATTTATTTTCTTCTATCTGAACTATAGTGAAGAAGCATACTGAAATAGTTTGTTTTGACTGTTTGTGGGTTTTGAGCCCAAAGCAGCCACCACAGAACTTGCCTGAAATCTCGGATGTCTGTCCACTCTCACAATAAAAGGCCTCACACATCTGCGCGCCCCTAGTTAAAGTCTTCCCCCTAAGACAAAACAGAAGGAGAAAAAGGTATATCAAGCTGTGGTTCAACAGCATACGTCCATGGGCTCTCTGAGCCTCACTCTCAGGAAAAACACATGCATCTAGGGCTCAGTCAAACTGTCATCAAACTCTAAGTCCCAGCATTACACCCACATTTTCAGCGGCATCTGCCACAGAAGTCTCCATCCTTTAAAAGAGGCTGCTCTGGTCTGGCTTGGGAGAATTGGAAAATCTAGCAAGTTCGGATCCCACTTTGCAAAAATATAAAGAACCAGGAAAAGGGGAAGGGGGAAACAGGAGGAACAGTGGAGTAAGGAGTAGAGGCCAAGAGCTGAGGTTGAAGGGGTGTGAGGGGAGAGGAATACCTGAAGTTTGGAGACCAGGGGAAGGGAACCTTGGAACTTCCTGGTGCCGGAGAGCATAGGCTGGAGCAGTTTGGGAGGGCTGCAGGGCCACACTCCCTCCTTCCTTAAGGAACTTCACAAGACCCCCAGAACCCAACACTCTGCTTACCCTTTATCTTCTACTCCTCTCCCTACACCAAAAAAACTTCCCAATGGCCCCCTCTCCATCTACCTCCCAGCTTTCTGGGACTTTGAAAGGGGCAAGCCCAACTTTTTATCCCAAACCTCACTTATTGTGATTAACTTCTCTTTTGGCGTTTAGATCTTCACCCCTTTAACTGTACTGTGACACACCCTGTCTACCTCGCCTCACTGCTTTAAAAAGTACGAACAGGAGGGGGTGAGCGTGGTCGACAAAGCCGACAGACGGCAAACAATGGCTTCTATTCTCCAGCTTTCCTCGAACCCAAGGAGCAAAACCGAGTCTCCCTAACCAGCAACACAGCTTCCAACCAAATGTACCAACAACCCACCAACTCACAAAGGGAACAGAGGGACGCTTCTAGCTTCATAAGCCCTGACCCAGTGCAGGGGTCCCCGAGGCTGCTCCCGTACGAACACCTCCCTACCTTTCCCAAAGGAAAAAAAAAAAAAGTCTTTTGGGTGAGTGGAGAAAATAGAAAAGTAATTTCTTGTTGTAAATATCTGGAGGTAATTGTGTTACTGGTGTGAGTTGTTAGGGGCTGTAAAAAGATACAACGGCACCGTGGGGAGCTCAATTGGGAAGAGAGAGTTACAATAAAGAGCCCATTCAAGAGGTCTGCCCCCCAAAAAGAGGTAAAATAACAAAACAGTCACAGCATCATTTCTCTCTGTTTTTTTTTAAATGCATTATTTTTTCTGTTTTACCTATGGTGATTATTGATCTGCCTGCCTGCAAGCAAAGAATTTCAAGAAGCACATTTTACTCTACAAGGCCATTCCTGGTCTACTTTTTAACTACTTGGTAGACAGCTTAAATCCATAAAAATAAACCGAAAATGAGGACTTTTTCTCAGCATTGGGTAAATACTGGCCACAGCAGAGGGTTACTAGTTACCCTTATCTAGGTTGGCTCTCCAATGCTTCCTTCCTGTCTCTCAGTCCCGGCACCCATAGCCATGCCCTGGATAGGCAAAATCTCCAACTCT
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Task1_train_15531
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Located on Chromosome 11, this mutation impacts WT1 (WT1 transcription factor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Nephrotic syndrome, type 4
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GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTATCTGAACTTTTCAAAAGGACTAGTTGTCATTAACATCTCTCTATTTTCTTTTGCTGATCTGGGATGATGGGATGCAATGACAATCTGCTTAAAATAAACCTTAAAACCTTAAAACATAATCACCACATCATCCACAAACCCCATTCAACCACAGCATGAGCACAATCACTCTGTAACACAAGGTGAAGATATTCTCTGTTGCTTCTAGGACATATAAGTCCCTCCTGAAGTTTGACAGAGAGAAATAAATTGTGGTCAGGACCTGGATAGGCTCACTAGTAGCCGTCGATGTCGGTGGCGTCTTCTCTTACCTGTTTAAAAGAGGCTCAGTGGCCTTGAGATTTGAACACAATACAGCTGATGGAATCTTGCCACTTTCCTTTTGAATAGACTTTAATTGAGAGCAAAGTGAAAAATGCAGGTTACAATTTTAAGTGTTATCATCAATATCTTGTAAGATCAACACCCAGTGATGCATCTAGTACTTATACAGTCCTAATTTTAGTTGTCAAAGAGCAAATCATTATCAGACATATATTTACACAGTAATTTCAAGCAACGGTAAATAATAAATTCCCTCCCTTAAAAAACAAAACACAACACAACACACACACACACACACACACACACACACACACGACCATCTTTAAACAATGGATTTCCTCACCCAGTAAGTCTCATTTTTTTCACATATACTTGTAGACCCAAAGGTCCTTAAGTTACTTAAAAACAGTCTTATCAGTGGAGATCCTGGACCATCCCCTATTTTCTTTTAAAGTCACTTTCATTTTTACAACTTGAAGCCATATACCAGCATGGTTTTTATACACTAAGGACACTCCCAGTGATGAAAATGAATTCCCCTCCATTTGTGCAAGGAGGTATGTACATCTATAAAGACACATATGATTACCACTCAAAAGAGTCAAAAACATACACAAAAAAATCTCAGATCTTCATAGTTTCTTAAGAGCAGTGTGCCAGTGTTCACATTGAATTAACTGAATGGTAAAATTCTTTTAGATTTCTATACAGAGGTACTGGTTAGTTCTGATTTTTTCTTCAGCTGCTTGAAATGCATGAGCTTTAAAAGTTGCCTGGCAGAACTACATCCTGCTTTCCAGGTTAGCAGCCTGGCTGACCTCGGGAATGTTAGACAAGATTCACCCCCGATGCCTTGCTCTCTGATTTATTTCTTGCTGTTGCTGTTAGTAAATGGAAACCATGACAAAGTTTACATTAGCAGACACATACACATGCCCTGGCCTATAAATATTCCATGATAGAAAATGGTACAATAATTCCATCCCCAGCGAAAACGAGCATAAAAAAAGAAGGGAAGGGTCAGGGGGACATGATCAGCTATGGCTCTTCTTACAGTAGAAAATCCACACCAAATGGCAATGGGCTTTTAACTAACCAGACATTGTTAGCTGCTTCTCCAGGGCCTGTGAGTCAACTAAAAGTAGGCAGGGCAGAGACCAACTCTTCCAGGCACACCTGGTAGTTTCCAGAAGCACCGGTATCTTGTCTTGGAAGTTGGATGAAGAAGATCAACTGAAGTTTCCTTTTTAGTGAGGAGGAGTGGAGAGTCAGACTTGAAAGCAGTTCACACACTGTGCTGCCTGGGACACTGAACGGTCCCCGAGGGAGACCCCTCAAAGCGCCAGCTGGAGTTTGGTCATGTTTCTCTGATGCATGTTGTGATGGCGGACTAATTCATCTGACCGGGCAAACTTTTTCTGACAACTTGGCCACCGACAGCTGAAGGGCTTTTCACCTGTTGACACAATTGCCAGTCAGAGACACTTGCAACAAAGAGACAGGCACAAGTTCAACTATCAAGGCCCGAGTGAAGTCATCACAAGGCACCCACTCTGAATTTCCCATCATTCTGTCCCTGAGCTAACCAACTGAGCTCATTTCCCAGGCAGCCTTGAAACAGCAGCACCTCTTGGGGCTTTAAGGATCGAAATATTGTAAAAAGTTATATTCTTAGGTCAGAAAACTTGGAAAGTGGGAGATAAAGAATGAGTCAAGTTGGGGGAAATGTCTGAGCAATTCATAATTAAGGGGAAAAACGTTTGTTTCAGTCTCTGCTGATAGAATGTTTTGTGAACTGTGTAAATTTCTCCCCCTTGTTGAGTAAGTTGGGAACTGAGATGAACTGGGCTGCAGAAGCCTCTGGGTCATCTACCCTGGGTATTACTGAGTGATCACTGTCCAGGGATCTCAGCTGTGACTGAAGCTTTTAACACTTCTATCTGTGTAGATACCCTGGATGGGCTGGATACTTTAAAATAAATCACTGATACCAGTTTACATGTTATGTGTTGTTTTTTTTTTTCTCTTAAAGTGTTACTGAGAGCATAATCCTGTTATATGGAAGATTCTAGTTGGGGCGTGGTTCTTAGATTTTTAATAAGCTTGCCAAAAGATTGAGGCTTCTCCACCCAAAGAGCCCTCAGACATTCTTTCCAAGCCTCATTCTCATTAGGGAGAATAACTACCATTTATTTGATGCTTAACATATGCCAAGCCTTGTGCTGGGCTTCACACACGCACACACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAG
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GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTATCTGAACTTTTCAAAAGGACTAGTTGTCATTAACATCTCTCTATTTTCTTTTGCTGATCTGGGATGATGGGATGCAATGACAATCTGCTTAAAATAAACCTTAAAACCTTAAAACATAATCACCACATCATCCACAAACCCCATTCAACCACAGCATGAGCACAATCACTCTGTAACACAAGGTGAAGATATTCTCTGTTGCTTCTAGGACATATAAGTCCCTCCTGAAGTTTGACAGAGAGAAATAAATTGTGGTCAGGACCTGGATAGGCTCACTAGTAGCCGTCGATGTCGGTGGCGTCTTCTCTTACCTGTTTAAAAGAGGCTCAGTGGCCTTGAGATTTGAACACAATACAGCTGATGGAATCTTGCCACTTTCCTTTTGAATAGACTTTAATTGAGAGCAAAGTGAAAAATGCAGGTTACAATTTTAAGTGTTATCATCAATATCTTGTAAGATCAACACCCAGTGATGCATCTAGTACTTATACAGTCCTAATTTTAGTTGTCAAAGAGCAAATCATTATCAGACATATATTTACACAGTAATTTCAAGCAACGGTAAATAATAAATTCCCTCCCTTAAAAAACAAAACACAACACAACACACACACACACACACACACACACACACACACGACCATCTTTAAACAATGGATTTCCTCACCCAGTAAGTCTCATTTTTTTCACATATACTTGTAGACCCAAAGGTCCTTAAGTTACTTAAAAACAGTCTTATCAGTGGAGATCCTGGACCATCCCCTATTTTCTTTTAAAGTCACTTTCATTTTTACAACTTGAAGCCATATACCAGCATGGTTTTTATACACTAAGGACACTCCCAGTGATGAAAATGAATTCCCCTCCATTTGTGCAAGGAGGTATGTACATCTATAAAGACACATATGATTACCACTCAAAAGAGTCAAAAACATACACAAAAAAATCTCAGATCTTCATAGTTTCTTAAGAGCAGTGTGCCAGTGTTCACATTGAATTAACTGAATGGTAAAATTCTTTTAGATTTCTATACAGAGGTACTGGTTAGTTCTGATTTTTTCTTCAGCTGCTTGAAATGCATGAGCTTTAAAAGTTGCCTGGCAGAACTACATCCTGCTTTCCAGGTTAGCAGCCTGGCTGACCTCGGGAATGTTAGACAAGATTCACCCCCGATGCCTTGCTCTCTGATTTATTTCTTGCTGTTGCTGTTAGTAAATGGAAACCATGACAAAGTTTACATTAGCAGACACATACACATGCCCTGGCCTATAAATATTCCATGATAGAAAATGGTACAATAATTCCATCCCCAGCGAAAACGAGCATAAAAAAAGAAGGGAAGGGTCAGGGGGACATGATCAGCTATGGCTCTTCTTACAGTAGAAAATCCACACCAAATGGCAATGGGCTTTTAACTAACCAGACATTGTTAGCTGCTTCTCCAGGGCCTGTGAGTCAACTAAAAGTAGGCAGGGCAGAGACCAACTCTTCCAGGCACACCTGGTAGTTTCCAGAAGCACCGGTATCTTGTCTTGGAAGTTGGATGAAGAAGATCAACTGAAGTTTCCTTTTTAGTGAGGAGGAGTGGAGAGTCAGACTTGAAAGCAGTTCACACACTGTGCTGCCTGGGACACTGAACGGTCCCCGAGGGAGACCCCTCAAAGCGCCAGCTGGAGTTTGGTCATGTTTCTCTGATGCATGTTGTGATGGCGGACTAATTCATCTGACTGGGCAAACTTTTTCTGACAACTTGGCCACCGACAGCTGAAGGGCTTTTCACCTGTTGACACAATTGCCAGTCAGAGACACTTGCAACAAAGAGACAGGCACAAGTTCAACTATCAAGGCCCGAGTGAAGTCATCACAAGGCACCCACTCTGAATTTCCCATCATTCTGTCCCTGAGCTAACCAACTGAGCTCATTTCCCAGGCAGCCTTGAAACAGCAGCACCTCTTGGGGCTTTAAGGATCGAAATATTGTAAAAAGTTATATTCTTAGGTCAGAAAACTTGGAAAGTGGGAGATAAAGAATGAGTCAAGTTGGGGGAAATGTCTGAGCAATTCATAATTAAGGGGAAAAACGTTTGTTTCAGTCTCTGCTGATAGAATGTTTTGTGAACTGTGTAAATTTCTCCCCCTTGTTGAGTAAGTTGGGAACTGAGATGAACTGGGCTGCAGAAGCCTCTGGGTCATCTACCCTGGGTATTACTGAGTGATCACTGTCCAGGGATCTCAGCTGTGACTGAAGCTTTTAACACTTCTATCTGTGTAGATACCCTGGATGGGCTGGATACTTTAAAATAAATCACTGATACCAGTTTACATGTTATGTGTTGTTTTTTTTTTTCTCTTAAAGTGTTACTGAGAGCATAATCCTGTTATATGGAAGATTCTAGTTGGGGCGTGGTTCTTAGATTTTTAATAAGCTTGCCAAAAGATTGAGGCTTCTCCACCCAAAGAGCCCTCAGACATTCTTTCCAAGCCTCATTCTCATTAGGGAGAATAACTACCATTTATTTGATGCTTAACATATGCCAAGCCTTGTGCTGGGCTTCACACACGCACACACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAG
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Task1_train_15532
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This variant impacts the gene WT1 (WT1 transcription factor) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Drash syndrome
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GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTATCTGAACTTTTCAAAAGGACTAGTTGTCATTAACATCTCTCTATTTTCTTTTGCTGATCTGGGATGATGGGATGCAATGACAATCTGCTTAAAATAAACCTTAAAACCTTAAAACATAATCACCACATCATCCACAAACCCCATTCAACCACAGCATGAGCACAATCACTCTGTAACACAAGGTGAAGATATTCTCTGTTGCTTCTAGGACATATAAGTCCCTCCTGAAGTTTGACAGAGAGAAATAAATTGTGGTCAGGACCTGGATAGGCTCACTAGTAGCCGTCGATGTCGGTGGCGTCTTCTCTTACCTGTTTAAAAGAGGCTCAGTGGCCTTGAGATTTGAACACAATACAGCTGATGGAATCTTGCCACTTTCCTTTTGAATAGACTTTAATTGAGAGCAAAGTGAAAAATGCAGGTTACAATTTTAAGTGTTATCATCAATATCTTGTAAGATCAACACCCAGTGATGCATCTAGTACTTATACAGTCCTAATTTTAGTTGTCAAAGAGCAAATCATTATCAGACATATATTTACACAGTAATTTCAAGCAACGGTAAATAATAAATTCCCTCCCTTAAAAAACAAAACACAACACAACACACACACACACACACACACACACACACACACGACCATCTTTAAACAATGGATTTCCTCACCCAGTAAGTCTCATTTTTTTCACATATACTTGTAGACCCAAAGGTCCTTAAGTTACTTAAAAACAGTCTTATCAGTGGAGATCCTGGACCATCCCCTATTTTCTTTTAAAGTCACTTTCATTTTTACAACTTGAAGCCATATACCAGCATGGTTTTTATACACTAAGGACACTCCCAGTGATGAAAATGAATTCCCCTCCATTTGTGCAAGGAGGTATGTACATCTATAAAGACACATATGATTACCACTCAAAAGAGTCAAAAACATACACAAAAAAATCTCAGATCTTCATAGTTTCTTAAGAGCAGTGTGCCAGTGTTCACATTGAATTAACTGAATGGTAAAATTCTTTTAGATTTCTATACAGAGGTACTGGTTAGTTCTGATTTTTTCTTCAGCTGCTTGAAATGCATGAGCTTTAAAAGTTGCCTGGCAGAACTACATCCTGCTTTCCAGGTTAGCAGCCTGGCTGACCTCGGGAATGTTAGACAAGATTCACCCCCGATGCCTTGCTCTCTGATTTATTTCTTGCTGTTGCTGTTAGTAAATGGAAACCATGACAAAGTTTACATTAGCAGACACATACACATGCCCTGGCCTATAAATATTCCATGATAGAAAATGGTACAATAATTCCATCCCCAGCGAAAACGAGCATAAAAAAAGAAGGGAAGGGTCAGGGGGACATGATCAGCTATGGCTCTTCTTACAGTAGAAAATCCACACCAAATGGCAATGGGCTTTTAACTAACCAGACATTGTTAGCTGCTTCTCCAGGGCCTGTGAGTCAACTAAAAGTAGGCAGGGCAGAGACCAACTCTTCCAGGCACACCTGGTAGTTTCCAGAAGCACCGGTATCTTGTCTTGGAAGTTGGATGAAGAAGATCAACTGAAGTTTCCTTTTTAGTGAGGAGGAGTGGAGAGTCAGACTTGAAAGCAGTTCACACACTGTGCTGCCTGGGACACTGAACGGTCCCCGAGGGAGACCCCTCAAAGCGCCAGCTGGAGTTTGGTCATGTTTCTCTGATGCATGTTGTGATGGCGGACTAATTCATCTGACCGGGCAAACTTTTTCTGACAACTTGGCCACCGACAGCTGAAGGGCTTTTCACCTGTTGACACAATTGCCAGTCAGAGACACTTGCAACAAAGAGACAGGCACAAGTTCAACTATCAAGGCCCGAGTGAAGTCATCACAAGGCACCCACTCTGAATTTCCCATCATTCTGTCCCTGAGCTAACCAACTGAGCTCATTTCCCAGGCAGCCTTGAAACAGCAGCACCTCTTGGGGCTTTAAGGATCGAAATATTGTAAAAAGTTATATTCTTAGGTCAGAAAACTTGGAAAGTGGGAGATAAAGAATGAGTCAAGTTGGGGGAAATGTCTGAGCAATTCATAATTAAGGGGAAAAACGTTTGTTTCAGTCTCTGCTGATAGAATGTTTTGTGAACTGTGTAAATTTCTCCCCCTTGTTGAGTAAGTTGGGAACTGAGATGAACTGGGCTGCAGAAGCCTCTGGGTCATCTACCCTGGGTATTACTGAGTGATCACTGTCCAGGGATCTCAGCTGTGACTGAAGCTTTTAACACTTCTATCTGTGTAGATACCCTGGATGGGCTGGATACTTTAAAATAAATCACTGATACCAGTTTACATGTTATGTGTTGTTTTTTTTTTTCTCTTAAAGTGTTACTGAGAGCATAATCCTGTTATATGGAAGATTCTAGTTGGGGCGTGGTTCTTAGATTTTTAATAAGCTTGCCAAAAGATTGAGGCTTCTCCACCCAAAGAGCCCTCAGACATTCTTTCCAAGCCTCATTCTCATTAGGGAGAATAACTACCATTTATTTGATGCTTAACATATGCCAAGCCTTGTGCTGGGCTTCACACACGCACACACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAG
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GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTATCTGAACTTTTCAAAAGGACTAGTTGTCATTAACATCTCTCTATTTTCTTTTGCTGATCTGGGATGATGGGATGCAATGACAATCTGCTTAAAATAAACCTTAAAACCTTAAAACATAATCACCACATCATCCACAAACCCCATTCAACCACAGCATGAGCACAATCACTCTGTAACACAAGGTGAAGATATTCTCTGTTGCTTCTAGGACATATAAGTCCCTCCTGAAGTTTGACAGAGAGAAATAAATTGTGGTCAGGACCTGGATAGGCTCACTAGTAGCCGTCGATGTCGGTGGCGTCTTCTCTTACCTGTTTAAAAGAGGCTCAGTGGCCTTGAGATTTGAACACAATACAGCTGATGGAATCTTGCCACTTTCCTTTTGAATAGACTTTAATTGAGAGCAAAGTGAAAAATGCAGGTTACAATTTTAAGTGTTATCATCAATATCTTGTAAGATCAACACCCAGTGATGCATCTAGTACTTATACAGTCCTAATTTTAGTTGTCAAAGAGCAAATCATTATCAGACATATATTTACACAGTAATTTCAAGCAACGGTAAATAATAAATTCCCTCCCTTAAAAAACAAAACACAACACAACACACACACACACACACACACACACACACACACGACCATCTTTAAACAATGGATTTCCTCACCCAGTAAGTCTCATTTTTTTCACATATACTTGTAGACCCAAAGGTCCTTAAGTTACTTAAAAACAGTCTTATCAGTGGAGATCCTGGACCATCCCCTATTTTCTTTTAAAGTCACTTTCATTTTTACAACTTGAAGCCATATACCAGCATGGTTTTTATACACTAAGGACACTCCCAGTGATGAAAATGAATTCCCCTCCATTTGTGCAAGGAGGTATGTACATCTATAAAGACACATATGATTACCACTCAAAAGAGTCAAAAACATACACAAAAAAATCTCAGATCTTCATAGTTTCTTAAGAGCAGTGTGCCAGTGTTCACATTGAATTAACTGAATGGTAAAATTCTTTTAGATTTCTATACAGAGGTACTGGTTAGTTCTGATTTTTTCTTCAGCTGCTTGAAATGCATGAGCTTTAAAAGTTGCCTGGCAGAACTACATCCTGCTTTCCAGGTTAGCAGCCTGGCTGACCTCGGGAATGTTAGACAAGATTCACCCCCGATGCCTTGCTCTCTGATTTATTTCTTGCTGTTGCTGTTAGTAAATGGAAACCATGACAAAGTTTACATTAGCAGACACATACACATGCCCTGGCCTATAAATATTCCATGATAGAAAATGGTACAATAATTCCATCCCCAGCGAAAACGAGCATAAAAAAAGAAGGGAAGGGTCAGGGGGACATGATCAGCTATGGCTCTTCTTACAGTAGAAAATCCACACCAAATGGCAATGGGCTTTTAACTAACCAGACATTGTTAGCTGCTTCTCCAGGGCCTGTGAGTCAACTAAAAGTAGGCAGGGCAGAGACCAACTCTTCCAGGCACACCTGGTAGTTTCCAGAAGCACCGGTATCTTGTCTTGGAAGTTGGATGAAGAAGATCAACTGAAGTTTCCTTTTTAGTGAGGAGGAGTGGAGAGTCAGACTTGAAAGCAGTTCACACACTGTGCTGCCTGGGACACTGAACGGTCCCCGAGGGAGACCCCTCAAAGCGCCAGCTGGAGTTTGGTCATGTTTCTCTGATGCATGTTGTGATGGCGGACTAATTCATCTGACTGGGCAAACTTTTTCTGACAACTTGGCCACCGACAGCTGAAGGGCTTTTCACCTGTTGACACAATTGCCAGTCAGAGACACTTGCAACAAAGAGACAGGCACAAGTTCAACTATCAAGGCCCGAGTGAAGTCATCACAAGGCACCCACTCTGAATTTCCCATCATTCTGTCCCTGAGCTAACCAACTGAGCTCATTTCCCAGGCAGCCTTGAAACAGCAGCACCTCTTGGGGCTTTAAGGATCGAAATATTGTAAAAAGTTATATTCTTAGGTCAGAAAACTTGGAAAGTGGGAGATAAAGAATGAGTCAAGTTGGGGGAAATGTCTGAGCAATTCATAATTAAGGGGAAAAACGTTTGTTTCAGTCTCTGCTGATAGAATGTTTTGTGAACTGTGTAAATTTCTCCCCCTTGTTGAGTAAGTTGGGAACTGAGATGAACTGGGCTGCAGAAGCCTCTGGGTCATCTACCCTGGGTATTACTGAGTGATCACTGTCCAGGGATCTCAGCTGTGACTGAAGCTTTTAACACTTCTATCTGTGTAGATACCCTGGATGGGCTGGATACTTTAAAATAAATCACTGATACCAGTTTACATGTTATGTGTTGTTTTTTTTTTTCTCTTAAAGTGTTACTGAGAGCATAATCCTGTTATATGGAAGATTCTAGTTGGGGCGTGGTTCTTAGATTTTTAATAAGCTTGCCAAAAGATTGAGGCTTCTCCACCCAAAGAGCCCTCAGACATTCTTTCCAAGCCTCATTCTCATTAGGGAGAATAACTACCATTTATTTGATGCTTAACATATGCCAAGCCTTGTGCTGGGCTTCACACACGCACACACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAG
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Task1_train_15533
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This gene mutation involves WT1 (WT1 transcription factor) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Frasier syndrome
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GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTATCTGAACTTTTCAAAAGGACTAGTTGTCATTAACATCTCTCTATTTTCTTTTGCTGATCTGGGATGATGGGATGCAATGACAATCTGCTTAAAATAAACCTTAAAACCTTAAAACATAATCACCACATCATCCACAAACCCCATTCAACCACAGCATGAGCACAATCACTCTGTAACACAAGGTGAAGATATTCTCTGTTGCTTCTAGGACATATAAGTCCCTCCTGAAGTTTGACAGAGAGAAATAAATTGTGGTCAGGACCTGGATAGGCTCACTAGTAGCCGTCGATGTCGGTGGCGTCTTCTCTTACCTGTTTAAAAGAGGCTCAGTGGCCTTGAGATTTGAACACAATACAGCTGATGGAATCTTGCCACTTTCCTTTTGAATAGACTTTAATTGAGAGCAAAGTGAAAAATGCAGGTTACAATTTTAAGTGTTATCATCAATATCTTGTAAGATCAACACCCAGTGATGCATCTAGTACTTATACAGTCCTAATTTTAGTTGTCAAAGAGCAAATCATTATCAGACATATATTTACACAGTAATTTCAAGCAACGGTAAATAATAAATTCCCTCCCTTAAAAAACAAAACACAACACAACACACACACACACACACACACACACACACACACGACCATCTTTAAACAATGGATTTCCTCACCCAGTAAGTCTCATTTTTTTCACATATACTTGTAGACCCAAAGGTCCTTAAGTTACTTAAAAACAGTCTTATCAGTGGAGATCCTGGACCATCCCCTATTTTCTTTTAAAGTCACTTTCATTTTTACAACTTGAAGCCATATACCAGCATGGTTTTTATACACTAAGGACACTCCCAGTGATGAAAATGAATTCCCCTCCATTTGTGCAAGGAGGTATGTACATCTATAAAGACACATATGATTACCACTCAAAAGAGTCAAAAACATACACAAAAAAATCTCAGATCTTCATAGTTTCTTAAGAGCAGTGTGCCAGTGTTCACATTGAATTAACTGAATGGTAAAATTCTTTTAGATTTCTATACAGAGGTACTGGTTAGTTCTGATTTTTTCTTCAGCTGCTTGAAATGCATGAGCTTTAAAAGTTGCCTGGCAGAACTACATCCTGCTTTCCAGGTTAGCAGCCTGGCTGACCTCGGGAATGTTAGACAAGATTCACCCCCGATGCCTTGCTCTCTGATTTATTTCTTGCTGTTGCTGTTAGTAAATGGAAACCATGACAAAGTTTACATTAGCAGACACATACACATGCCCTGGCCTATAAATATTCCATGATAGAAAATGGTACAATAATTCCATCCCCAGCGAAAACGAGCATAAAAAAAGAAGGGAAGGGTCAGGGGGACATGATCAGCTATGGCTCTTCTTACAGTAGAAAATCCACACCAAATGGCAATGGGCTTTTAACTAACCAGACATTGTTAGCTGCTTCTCCAGGGCCTGTGAGTCAACTAAAAGTAGGCAGGGCAGAGACCAACTCTTCCAGGCACACCTGGTAGTTTCCAGAAGCACCGGTATCTTGTCTTGGAAGTTGGATGAAGAAGATCAACTGAAGTTTCCTTTTTAGTGAGGAGGAGTGGAGAGTCAGACTTGAAAGCAGTTCACACACTGTGCTGCCTGGGACACTGAACGGTCCCCGAGGGAGACCCCTCAAAGCGCCAGCTGGAGTTTGGTCATGTTTCTCTGATGCATGTTGTGATGGCGGACTAATTCATCTGACCGGGCAAACTTTTTCTGACAACTTGGCCACCGACAGCTGAAGGGCTTTTCACCTGTTGACACAATTGCCAGTCAGAGACACTTGCAACAAAGAGACAGGCACAAGTTCAACTATCAAGGCCCGAGTGAAGTCATCACAAGGCACCCACTCTGAATTTCCCATCATTCTGTCCCTGAGCTAACCAACTGAGCTCATTTCCCAGGCAGCCTTGAAACAGCAGCACCTCTTGGGGCTTTAAGGATCGAAATATTGTAAAAAGTTATATTCTTAGGTCAGAAAACTTGGAAAGTGGGAGATAAAGAATGAGTCAAGTTGGGGGAAATGTCTGAGCAATTCATAATTAAGGGGAAAAACGTTTGTTTCAGTCTCTGCTGATAGAATGTTTTGTGAACTGTGTAAATTTCTCCCCCTTGTTGAGTAAGTTGGGAACTGAGATGAACTGGGCTGCAGAAGCCTCTGGGTCATCTACCCTGGGTATTACTGAGTGATCACTGTCCAGGGATCTCAGCTGTGACTGAAGCTTTTAACACTTCTATCTGTGTAGATACCCTGGATGGGCTGGATACTTTAAAATAAATCACTGATACCAGTTTACATGTTATGTGTTGTTTTTTTTTTTCTCTTAAAGTGTTACTGAGAGCATAATCCTGTTATATGGAAGATTCTAGTTGGGGCGTGGTTCTTAGATTTTTAATAAGCTTGCCAAAAGATTGAGGCTTCTCCACCCAAAGAGCCCTCAGACATTCTTTCCAAGCCTCATTCTCATTAGGGAGAATAACTACCATTTATTTGATGCTTAACATATGCCAAGCCTTGTGCTGGGCTTCACACACGCACACACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAG
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GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTATCTGAACTTTTCAAAAGGACTAGTTGTCATTAACATCTCTCTATTTTCTTTTGCTGATCTGGGATGATGGGATGCAATGACAATCTGCTTAAAATAAACCTTAAAACCTTAAAACATAATCACCACATCATCCACAAACCCCATTCAACCACAGCATGAGCACAATCACTCTGTAACACAAGGTGAAGATATTCTCTGTTGCTTCTAGGACATATAAGTCCCTCCTGAAGTTTGACAGAGAGAAATAAATTGTGGTCAGGACCTGGATAGGCTCACTAGTAGCCGTCGATGTCGGTGGCGTCTTCTCTTACCTGTTTAAAAGAGGCTCAGTGGCCTTGAGATTTGAACACAATACAGCTGATGGAATCTTGCCACTTTCCTTTTGAATAGACTTTAATTGAGAGCAAAGTGAAAAATGCAGGTTACAATTTTAAGTGTTATCATCAATATCTTGTAAGATCAACACCCAGTGATGCATCTAGTACTTATACAGTCCTAATTTTAGTTGTCAAAGAGCAAATCATTATCAGACATATATTTACACAGTAATTTCAAGCAACGGTAAATAATAAATTCCCTCCCTTAAAAAACAAAACACAACACAACACACACACACACACACACACACACACACACACGACCATCTTTAAACAATGGATTTCCTCACCCAGTAAGTCTCATTTTTTTCACATATACTTGTAGACCCAAAGGTCCTTAAGTTACTTAAAAACAGTCTTATCAGTGGAGATCCTGGACCATCCCCTATTTTCTTTTAAAGTCACTTTCATTTTTACAACTTGAAGCCATATACCAGCATGGTTTTTATACACTAAGGACACTCCCAGTGATGAAAATGAATTCCCCTCCATTTGTGCAAGGAGGTATGTACATCTATAAAGACACATATGATTACCACTCAAAAGAGTCAAAAACATACACAAAAAAATCTCAGATCTTCATAGTTTCTTAAGAGCAGTGTGCCAGTGTTCACATTGAATTAACTGAATGGTAAAATTCTTTTAGATTTCTATACAGAGGTACTGGTTAGTTCTGATTTTTTCTTCAGCTGCTTGAAATGCATGAGCTTTAAAAGTTGCCTGGCAGAACTACATCCTGCTTTCCAGGTTAGCAGCCTGGCTGACCTCGGGAATGTTAGACAAGATTCACCCCCGATGCCTTGCTCTCTGATTTATTTCTTGCTGTTGCTGTTAGTAAATGGAAACCATGACAAAGTTTACATTAGCAGACACATACACATGCCCTGGCCTATAAATATTCCATGATAGAAAATGGTACAATAATTCCATCCCCAGCGAAAACGAGCATAAAAAAAGAAGGGAAGGGTCAGGGGGACATGATCAGCTATGGCTCTTCTTACAGTAGAAAATCCACACCAAATGGCAATGGGCTTTTAACTAACCAGACATTGTTAGCTGCTTCTCCAGGGCCTGTGAGTCAACTAAAAGTAGGCAGGGCAGAGACCAACTCTTCCAGGCACACCTGGTAGTTTCCAGAAGCACCGGTATCTTGTCTTGGAAGTTGGATGAAGAAGATCAACTGAAGTTTCCTTTTTAGTGAGGAGGAGTGGAGAGTCAGACTTGAAAGCAGTTCACACACTGTGCTGCCTGGGACACTGAACGGTCCCCGAGGGAGACCCCTCAAAGCGCCAGCTGGAGTTTGGTCATGTTTCTCTGATGCATGTTGTGATGGCGGACTAATTCATCTGACTGGGCAAACTTTTTCTGACAACTTGGCCACCGACAGCTGAAGGGCTTTTCACCTGTTGACACAATTGCCAGTCAGAGACACTTGCAACAAAGAGACAGGCACAAGTTCAACTATCAAGGCCCGAGTGAAGTCATCACAAGGCACCCACTCTGAATTTCCCATCATTCTGTCCCTGAGCTAACCAACTGAGCTCATTTCCCAGGCAGCCTTGAAACAGCAGCACCTCTTGGGGCTTTAAGGATCGAAATATTGTAAAAAGTTATATTCTTAGGTCAGAAAACTTGGAAAGTGGGAGATAAAGAATGAGTCAAGTTGGGGGAAATGTCTGAGCAATTCATAATTAAGGGGAAAAACGTTTGTTTCAGTCTCTGCTGATAGAATGTTTTGTGAACTGTGTAAATTTCTCCCCCTTGTTGAGTAAGTTGGGAACTGAGATGAACTGGGCTGCAGAAGCCTCTGGGTCATCTACCCTGGGTATTACTGAGTGATCACTGTCCAGGGATCTCAGCTGTGACTGAAGCTTTTAACACTTCTATCTGTGTAGATACCCTGGATGGGCTGGATACTTTAAAATAAATCACTGATACCAGTTTACATGTTATGTGTTGTTTTTTTTTTTCTCTTAAAGTGTTACTGAGAGCATAATCCTGTTATATGGAAGATTCTAGTTGGGGCGTGGTTCTTAGATTTTTAATAAGCTTGCCAAAAGATTGAGGCTTCTCCACCCAAAGAGCCCTCAGACATTCTTTCCAAGCCTCATTCTCATTAGGGAGAATAACTACCATTTATTTGATGCTTAACATATGCCAAGCCTTGTGCTGGGCTTCACACACGCACACACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAG
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Task1_train_15534
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A change on Chromosome 11 affects gene WT1 (WT1 transcription factor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Wilms tumor 1
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GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTATCTGAACTTTTCAAAAGGACTAGTTGTCATTAACATCTCTCTATTTTCTTTTGCTGATCTGGGATGATGGGATGCAATGACAATCTGCTTAAAATAAACCTTAAAACCTTAAAACATAATCACCACATCATCCACAAACCCCATTCAACCACAGCATGAGCACAATCACTCTGTAACACAAGGTGAAGATATTCTCTGTTGCTTCTAGGACATATAAGTCCCTCCTGAAGTTTGACAGAGAGAAATAAATTGTGGTCAGGACCTGGATAGGCTCACTAGTAGCCGTCGATGTCGGTGGCGTCTTCTCTTACCTGTTTAAAAGAGGCTCAGTGGCCTTGAGATTTGAACACAATACAGCTGATGGAATCTTGCCACTTTCCTTTTGAATAGACTTTAATTGAGAGCAAAGTGAAAAATGCAGGTTACAATTTTAAGTGTTATCATCAATATCTTGTAAGATCAACACCCAGTGATGCATCTAGTACTTATACAGTCCTAATTTTAGTTGTCAAAGAGCAAATCATTATCAGACATATATTTACACAGTAATTTCAAGCAACGGTAAATAATAAATTCCCTCCCTTAAAAAACAAAACACAACACAACACACACACACACACACACACACACACACACACGACCATCTTTAAACAATGGATTTCCTCACCCAGTAAGTCTCATTTTTTTCACATATACTTGTAGACCCAAAGGTCCTTAAGTTACTTAAAAACAGTCTTATCAGTGGAGATCCTGGACCATCCCCTATTTTCTTTTAAAGTCACTTTCATTTTTACAACTTGAAGCCATATACCAGCATGGTTTTTATACACTAAGGACACTCCCAGTGATGAAAATGAATTCCCCTCCATTTGTGCAAGGAGGTATGTACATCTATAAAGACACATATGATTACCACTCAAAAGAGTCAAAAACATACACAAAAAAATCTCAGATCTTCATAGTTTCTTAAGAGCAGTGTGCCAGTGTTCACATTGAATTAACTGAATGGTAAAATTCTTTTAGATTTCTATACAGAGGTACTGGTTAGTTCTGATTTTTTCTTCAGCTGCTTGAAATGCATGAGCTTTAAAAGTTGCCTGGCAGAACTACATCCTGCTTTCCAGGTTAGCAGCCTGGCTGACCTCGGGAATGTTAGACAAGATTCACCCCCGATGCCTTGCTCTCTGATTTATTTCTTGCTGTTGCTGTTAGTAAATGGAAACCATGACAAAGTTTACATTAGCAGACACATACACATGCCCTGGCCTATAAATATTCCATGATAGAAAATGGTACAATAATTCCATCCCCAGCGAAAACGAGCATAAAAAAAGAAGGGAAGGGTCAGGGGGACATGATCAGCTATGGCTCTTCTTACAGTAGAAAATCCACACCAAATGGCAATGGGCTTTTAACTAACCAGACATTGTTAGCTGCTTCTCCAGGGCCTGTGAGTCAACTAAAAGTAGGCAGGGCAGAGACCAACTCTTCCAGGCACACCTGGTAGTTTCCAGAAGCACCGGTATCTTGTCTTGGAAGTTGGATGAAGAAGATCAACTGAAGTTTCCTTTTTAGTGAGGAGGAGTGGAGAGTCAGACTTGAAAGCAGTTCACACACTGTGCTGCCTGGGACACTGAACGGTCCCCGAGGGAGACCCCTCAAAGCGCCAGCTGGAGTTTGGTCATGTTTCTCTGATGCATGTTGTGATGGCGGACTAATTCATCTGACCGGGCAAACTTTTTCTGACAACTTGGCCACCGACAGCTGAAGGGCTTTTCACCTGTTGACACAATTGCCAGTCAGAGACACTTGCAACAAAGAGACAGGCACAAGTTCAACTATCAAGGCCCGAGTGAAGTCATCACAAGGCACCCACTCTGAATTTCCCATCATTCTGTCCCTGAGCTAACCAACTGAGCTCATTTCCCAGGCAGCCTTGAAACAGCAGCACCTCTTGGGGCTTTAAGGATCGAAATATTGTAAAAAGTTATATTCTTAGGTCAGAAAACTTGGAAAGTGGGAGATAAAGAATGAGTCAAGTTGGGGGAAATGTCTGAGCAATTCATAATTAAGGGGAAAAACGTTTGTTTCAGTCTCTGCTGATAGAATGTTTTGTGAACTGTGTAAATTTCTCCCCCTTGTTGAGTAAGTTGGGAACTGAGATGAACTGGGCTGCAGAAGCCTCTGGGTCATCTACCCTGGGTATTACTGAGTGATCACTGTCCAGGGATCTCAGCTGTGACTGAAGCTTTTAACACTTCTATCTGTGTAGATACCCTGGATGGGCTGGATACTTTAAAATAAATCACTGATACCAGTTTACATGTTATGTGTTGTTTTTTTTTTTCTCTTAAAGTGTTACTGAGAGCATAATCCTGTTATATGGAAGATTCTAGTTGGGGCGTGGTTCTTAGATTTTTAATAAGCTTGCCAAAAGATTGAGGCTTCTCCACCCAAAGAGCCCTCAGACATTCTTTCCAAGCCTCATTCTCATTAGGGAGAATAACTACCATTTATTTGATGCTTAACATATGCCAAGCCTTGTGCTGGGCTTCACACACGCACACACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAG
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GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTATCTGAACTTTTCAAAAGGACTAGTTGTCATTAACATCTCTCTATTTTCTTTTGCTGATCTGGGATGATGGGATGCAATGACAATCTGCTTAAAATAAACCTTAAAACCTTAAAACATAATCACCACATCATCCACAAACCCCATTCAACCACAGCATGAGCACAATCACTCTGTAACACAAGGTGAAGATATTCTCTGTTGCTTCTAGGACATATAAGTCCCTCCTGAAGTTTGACAGAGAGAAATAAATTGTGGTCAGGACCTGGATAGGCTCACTAGTAGCCGTCGATGTCGGTGGCGTCTTCTCTTACCTGTTTAAAAGAGGCTCAGTGGCCTTGAGATTTGAACACAATACAGCTGATGGAATCTTGCCACTTTCCTTTTGAATAGACTTTAATTGAGAGCAAAGTGAAAAATGCAGGTTACAATTTTAAGTGTTATCATCAATATCTTGTAAGATCAACACCCAGTGATGCATCTAGTACTTATACAGTCCTAATTTTAGTTGTCAAAGAGCAAATCATTATCAGACATATATTTACACAGTAATTTCAAGCAACGGTAAATAATAAATTCCCTCCCTTAAAAAACAAAACACAACACAACACACACACACACACACACACACACACACACACGACCATCTTTAAACAATGGATTTCCTCACCCAGTAAGTCTCATTTTTTTCACATATACTTGTAGACCCAAAGGTCCTTAAGTTACTTAAAAACAGTCTTATCAGTGGAGATCCTGGACCATCCCCTATTTTCTTTTAAAGTCACTTTCATTTTTACAACTTGAAGCCATATACCAGCATGGTTTTTATACACTAAGGACACTCCCAGTGATGAAAATGAATTCCCCTCCATTTGTGCAAGGAGGTATGTACATCTATAAAGACACATATGATTACCACTCAAAAGAGTCAAAAACATACACAAAAAAATCTCAGATCTTCATAGTTTCTTAAGAGCAGTGTGCCAGTGTTCACATTGAATTAACTGAATGGTAAAATTCTTTTAGATTTCTATACAGAGGTACTGGTTAGTTCTGATTTTTTCTTCAGCTGCTTGAAATGCATGAGCTTTAAAAGTTGCCTGGCAGAACTACATCCTGCTTTCCAGGTTAGCAGCCTGGCTGACCTCGGGAATGTTAGACAAGATTCACCCCCGATGCCTTGCTCTCTGATTTATTTCTTGCTGTTGCTGTTAGTAAATGGAAACCATGACAAAGTTTACATTAGCAGACACATACACATGCCCTGGCCTATAAATATTCCATGATAGAAAATGGTACAATAATTCCATCCCCAGCGAAAACGAGCATAAAAAAAGAAGGGAAGGGTCAGGGGGACATGATCAGCTATGGCTCTTCTTACAGTAGAAAATCCACACCAAATGGCAATGGGCTTTTAACTAACCAGACATTGTTAGCTGCTTCTCCAGGGCCTGTGAGTCAACTAAAAGTAGGCAGGGCAGAGACCAACTCTTCCAGGCACACCTGGTAGTTTCCAGAAGCACCGGTATCTTGTCTTGGAAGTTGGATGAAGAAGATCAACTGAAGTTTCCTTTTTAGTGAGGAGGAGTGGAGAGTCAGACTTGAAAGCAGTTCACACACTGTGCTGCCTGGGACACTGAACGGTCCCCGAGGGAGACCCCTCAAAGCGCCAGCTGGAGTTTGGTCATGTTTCTCTGATGCATGTTGTGATGGCGGACTAATTCATCTGACTGGGCAAACTTTTTCTGACAACTTGGCCACCGACAGCTGAAGGGCTTTTCACCTGTTGACACAATTGCCAGTCAGAGACACTTGCAACAAAGAGACAGGCACAAGTTCAACTATCAAGGCCCGAGTGAAGTCATCACAAGGCACCCACTCTGAATTTCCCATCATTCTGTCCCTGAGCTAACCAACTGAGCTCATTTCCCAGGCAGCCTTGAAACAGCAGCACCTCTTGGGGCTTTAAGGATCGAAATATTGTAAAAAGTTATATTCTTAGGTCAGAAAACTTGGAAAGTGGGAGATAAAGAATGAGTCAAGTTGGGGGAAATGTCTGAGCAATTCATAATTAAGGGGAAAAACGTTTGTTTCAGTCTCTGCTGATAGAATGTTTTGTGAACTGTGTAAATTTCTCCCCCTTGTTGAGTAAGTTGGGAACTGAGATGAACTGGGCTGCAGAAGCCTCTGGGTCATCTACCCTGGGTATTACTGAGTGATCACTGTCCAGGGATCTCAGCTGTGACTGAAGCTTTTAACACTTCTATCTGTGTAGATACCCTGGATGGGCTGGATACTTTAAAATAAATCACTGATACCAGTTTACATGTTATGTGTTGTTTTTTTTTTTCTCTTAAAGTGTTACTGAGAGCATAATCCTGTTATATGGAAGATTCTAGTTGGGGCGTGGTTCTTAGATTTTTAATAAGCTTGCCAAAAGATTGAGGCTTCTCCACCCAAAGAGCCCTCAGACATTCTTTCCAAGCCTCATTCTCATTAGGGAGAATAACTACCATTTATTTGATGCTTAACATATGCCAAGCCTTGTGCTGGGCTTCACACACGCACACACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAG
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Task1_train_15535
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The gene WT1 (WT1 transcription factor) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; 11p partial monosomy syndrome
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GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTATCTGAACTTTTCAAAAGGACTAGTTGTCATTAACATCTCTCTATTTTCTTTTGCTGATCTGGGATGATGGGATGCAATGACAATCTGCTTAAAATAAACCTTAAAACCTTAAAACATAATCACCACATCATCCACAAACCCCATTCAACCACAGCATGAGCACAATCACTCTGTAACACAAGGTGAAGATATTCTCTGTTGCTTCTAGGACATATAAGTCCCTCCTGAAGTTTGACAGAGAGAAATAAATTGTGGTCAGGACCTGGATAGGCTCACTAGTAGCCGTCGATGTCGGTGGCGTCTTCTCTTACCTGTTTAAAAGAGGCTCAGTGGCCTTGAGATTTGAACACAATACAGCTGATGGAATCTTGCCACTTTCCTTTTGAATAGACTTTAATTGAGAGCAAAGTGAAAAATGCAGGTTACAATTTTAAGTGTTATCATCAATATCTTGTAAGATCAACACCCAGTGATGCATCTAGTACTTATACAGTCCTAATTTTAGTTGTCAAAGAGCAAATCATTATCAGACATATATTTACACAGTAATTTCAAGCAACGGTAAATAATAAATTCCCTCCCTTAAAAAACAAAACACAACACAACACACACACACACACACACACACACACACACACGACCATCTTTAAACAATGGATTTCCTCACCCAGTAAGTCTCATTTTTTTCACATATACTTGTAGACCCAAAGGTCCTTAAGTTACTTAAAAACAGTCTTATCAGTGGAGATCCTGGACCATCCCCTATTTTCTTTTAAAGTCACTTTCATTTTTACAACTTGAAGCCATATACCAGCATGGTTTTTATACACTAAGGACACTCCCAGTGATGAAAATGAATTCCCCTCCATTTGTGCAAGGAGGTATGTACATCTATAAAGACACATATGATTACCACTCAAAAGAGTCAAAAACATACACAAAAAAATCTCAGATCTTCATAGTTTCTTAAGAGCAGTGTGCCAGTGTTCACATTGAATTAACTGAATGGTAAAATTCTTTTAGATTTCTATACAGAGGTACTGGTTAGTTCTGATTTTTTCTTCAGCTGCTTGAAATGCATGAGCTTTAAAAGTTGCCTGGCAGAACTACATCCTGCTTTCCAGGTTAGCAGCCTGGCTGACCTCGGGAATGTTAGACAAGATTCACCCCCGATGCCTTGCTCTCTGATTTATTTCTTGCTGTTGCTGTTAGTAAATGGAAACCATGACAAAGTTTACATTAGCAGACACATACACATGCCCTGGCCTATAAATATTCCATGATAGAAAATGGTACAATAATTCCATCCCCAGCGAAAACGAGCATAAAAAAAGAAGGGAAGGGTCAGGGGGACATGATCAGCTATGGCTCTTCTTACAGTAGAAAATCCACACCAAATGGCAATGGGCTTTTAACTAACCAGACATTGTTAGCTGCTTCTCCAGGGCCTGTGAGTCAACTAAAAGTAGGCAGGGCAGAGACCAACTCTTCCAGGCACACCTGGTAGTTTCCAGAAGCACCGGTATCTTGTCTTGGAAGTTGGATGAAGAAGATCAACTGAAGTTTCCTTTTTAGTGAGGAGGAGTGGAGAGTCAGACTTGAAAGCAGTTCACACACTGTGCTGCCTGGGACACTGAACGGTCCCCGAGGGAGACCCCTCAAAGCGCCAGCTGGAGTTTGGTCATGTTTCTCTGATGCATGTTGTGATGGCGGACTAATTCATCTGACCGGGCAAACTTTTTCTGACAACTTGGCCACCGACAGCTGAAGGGCTTTTCACCTGTTGACACAATTGCCAGTCAGAGACACTTGCAACAAAGAGACAGGCACAAGTTCAACTATCAAGGCCCGAGTGAAGTCATCACAAGGCACCCACTCTGAATTTCCCATCATTCTGTCCCTGAGCTAACCAACTGAGCTCATTTCCCAGGCAGCCTTGAAACAGCAGCACCTCTTGGGGCTTTAAGGATCGAAATATTGTAAAAAGTTATATTCTTAGGTCAGAAAACTTGGAAAGTGGGAGATAAAGAATGAGTCAAGTTGGGGGAAATGTCTGAGCAATTCATAATTAAGGGGAAAAACGTTTGTTTCAGTCTCTGCTGATAGAATGTTTTGTGAACTGTGTAAATTTCTCCCCCTTGTTGAGTAAGTTGGGAACTGAGATGAACTGGGCTGCAGAAGCCTCTGGGTCATCTACCCTGGGTATTACTGAGTGATCACTGTCCAGGGATCTCAGCTGTGACTGAAGCTTTTAACACTTCTATCTGTGTAGATACCCTGGATGGGCTGGATACTTTAAAATAAATCACTGATACCAGTTTACATGTTATGTGTTGTTTTTTTTTTTCTCTTAAAGTGTTACTGAGAGCATAATCCTGTTATATGGAAGATTCTAGTTGGGGCGTGGTTCTTAGATTTTTAATAAGCTTGCCAAAAGATTGAGGCTTCTCCACCCAAAGAGCCCTCAGACATTCTTTCCAAGCCTCATTCTCATTAGGGAGAATAACTACCATTTATTTGATGCTTAACATATGCCAAGCCTTGTGCTGGGCTTCACACACGCACACACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAG
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GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTATCTGAACTTTTCAAAAGGACTAGTTGTCATTAACATCTCTCTATTTTCTTTTGCTGATCTGGGATGATGGGATGCAATGACAATCTGCTTAAAATAAACCTTAAAACCTTAAAACATAATCACCACATCATCCACAAACCCCATTCAACCACAGCATGAGCACAATCACTCTGTAACACAAGGTGAAGATATTCTCTGTTGCTTCTAGGACATATAAGTCCCTCCTGAAGTTTGACAGAGAGAAATAAATTGTGGTCAGGACCTGGATAGGCTCACTAGTAGCCGTCGATGTCGGTGGCGTCTTCTCTTACCTGTTTAAAAGAGGCTCAGTGGCCTTGAGATTTGAACACAATACAGCTGATGGAATCTTGCCACTTTCCTTTTGAATAGACTTTAATTGAGAGCAAAGTGAAAAATGCAGGTTACAATTTTAAGTGTTATCATCAATATCTTGTAAGATCAACACCCAGTGATGCATCTAGTACTTATACAGTCCTAATTTTAGTTGTCAAAGAGCAAATCATTATCAGACATATATTTACACAGTAATTTCAAGCAACGGTAAATAATAAATTCCCTCCCTTAAAAAACAAAACACAACACAACACACACACACACACACACACACACACACACACGACCATCTTTAAACAATGGATTTCCTCACCCAGTAAGTCTCATTTTTTTCACATATACTTGTAGACCCAAAGGTCCTTAAGTTACTTAAAAACAGTCTTATCAGTGGAGATCCTGGACCATCCCCTATTTTCTTTTAAAGTCACTTTCATTTTTACAACTTGAAGCCATATACCAGCATGGTTTTTATACACTAAGGACACTCCCAGTGATGAAAATGAATTCCCCTCCATTTGTGCAAGGAGGTATGTACATCTATAAAGACACATATGATTACCACTCAAAAGAGTCAAAAACATACACAAAAAAATCTCAGATCTTCATAGTTTCTTAAGAGCAGTGTGCCAGTGTTCACATTGAATTAACTGAATGGTAAAATTCTTTTAGATTTCTATACAGAGGTACTGGTTAGTTCTGATTTTTTCTTCAGCTGCTTGAAATGCATGAGCTTTAAAAGTTGCCTGGCAGAACTACATCCTGCTTTCCAGGTTAGCAGCCTGGCTGACCTCGGGAATGTTAGACAAGATTCACCCCCGATGCCTTGCTCTCTGATTTATTTCTTGCTGTTGCTGTTAGTAAATGGAAACCATGACAAAGTTTACATTAGCAGACACATACACATGCCCTGGCCTATAAATATTCCATGATAGAAAATGGTACAATAATTCCATCCCCAGCGAAAACGAGCATAAAAAAAGAAGGGAAGGGTCAGGGGGACATGATCAGCTATGGCTCTTCTTACAGTAGAAAATCCACACCAAATGGCAATGGGCTTTTAACTAACCAGACATTGTTAGCTGCTTCTCCAGGGCCTGTGAGTCAACTAAAAGTAGGCAGGGCAGAGACCAACTCTTCCAGGCACACCTGGTAGTTTCCAGAAGCACCGGTATCTTGTCTTGGAAGTTGGATGAAGAAGATCAACTGAAGTTTCCTTTTTAGTGAGGAGGAGTGGAGAGTCAGACTTGAAAGCAGTTCACACACTGTGCTGCCTGGGACACTGAACGGTCCCCGAGGGAGACCCCTCAAAGCGCCAGCTGGAGTTTGGTCATGTTTCTCTGATGCATGTTGTGATGGCGGACTAATTCATCTGACTGGGCAAACTTTTTCTGACAACTTGGCCACCGACAGCTGAAGGGCTTTTCACCTGTTGACACAATTGCCAGTCAGAGACACTTGCAACAAAGAGACAGGCACAAGTTCAACTATCAAGGCCCGAGTGAAGTCATCACAAGGCACCCACTCTGAATTTCCCATCATTCTGTCCCTGAGCTAACCAACTGAGCTCATTTCCCAGGCAGCCTTGAAACAGCAGCACCTCTTGGGGCTTTAAGGATCGAAATATTGTAAAAAGTTATATTCTTAGGTCAGAAAACTTGGAAAGTGGGAGATAAAGAATGAGTCAAGTTGGGGGAAATGTCTGAGCAATTCATAATTAAGGGGAAAAACGTTTGTTTCAGTCTCTGCTGATAGAATGTTTTGTGAACTGTGTAAATTTCTCCCCCTTGTTGAGTAAGTTGGGAACTGAGATGAACTGGGCTGCAGAAGCCTCTGGGTCATCTACCCTGGGTATTACTGAGTGATCACTGTCCAGGGATCTCAGCTGTGACTGAAGCTTTTAACACTTCTATCTGTGTAGATACCCTGGATGGGCTGGATACTTTAAAATAAATCACTGATACCAGTTTACATGTTATGTGTTGTTTTTTTTTTTCTCTTAAAGTGTTACTGAGAGCATAATCCTGTTATATGGAAGATTCTAGTTGGGGCGTGGTTCTTAGATTTTTAATAAGCTTGCCAAAAGATTGAGGCTTCTCCACCCAAAGAGCCCTCAGACATTCTTTCCAAGCCTCATTCTCATTAGGGAGAATAACTACCATTTATTTGATGCTTAACATATGCCAAGCCTTGTGCTGGGCTTCACACACGCACACACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAG
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Task1_train_15536
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Here is a genetic alteration in WT1 (WT1 transcription factor) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Nephrotic syndrome, type 4
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CACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAAT
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CACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTTGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAAT
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Task1_train_15537
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This is a variant in WT1 (WT1 transcription factor), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; WT1-related disorder
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AACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTA
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AACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACGGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTA
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Task1_train_15538
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Here is a variant affecting WT1 (WT1 transcription factor) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Kidney disorder
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15539
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This variant impacts the gene WT1 (WT1 transcription factor) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Drash syndrome
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15540
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This genomic variant is located on Chromosome 11, within the WT1 (WT1 transcription factor) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Frasier syndrome
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15541
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Assess the clinical impact of this variant on gene WT1 (WT1 transcription factor), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Wilms tumor 1
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15542
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This sequence change occurs on Chromosome 11, altering WT1 (WT1 transcription factor). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; 11p partial monosomy syndrome
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15543
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A genetic alteration is present in WT1 (WT1 transcription factor) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Drash syndrome
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15544
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A variant on Chromosome 11 in gene WT1 (WT1 transcription factor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Mesothelioma, malignant
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15545
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Consider this mutation in WT1 (WT1 transcription factor) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Drash syndrome
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15546
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Here is a variant affecting WT1 (WT1 transcription factor) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Meacham syndrome
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15547
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A mutation found in WT1 (WT1 transcription factor) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Frasier syndrome
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15548
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An alteration has been detected in WT1 (WT1 transcription factor) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Wilms tumor 1
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15549
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Gene WT1 (WT1 transcription factor), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Nephrotic syndrome, type 4
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15550
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With a mutation on Chromosome 11 in gene WT1 (WT1 transcription factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Wilms tumor 1
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15551
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A variant on Chromosome 11 in gene WT1 (WT1 transcription factor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Nephrotic syndrome, type 4
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCAGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAA
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Task1_train_15552
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Gene WT1 (WT1 transcription factor), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Frasier syndrome
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TGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATAT
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TGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAGCTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATAT
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Task1_train_15553
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The following genetic variant occurs in WT1 (WT1 transcription factor) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Wilms tumor 1
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TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTC
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TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACGCTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTC
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Task1_train_15554
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Here’s a variant in WT1 (WT1 transcription factor) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; 11p partial monosomy syndrome
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TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTC
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TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACGCTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTC
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Task1_train_15555
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This alteration occurs within gene WT1 (WT1 transcription factor) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Drash syndrome
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TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTC
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TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACGCTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTC
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Task1_train_15556
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An alteration has been detected in WT1 (WT1 transcription factor) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Frasier syndrome
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TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTC
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TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACGCTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTC
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Task1_train_15557
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Gene WT1 (WT1 transcription factor) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Nephrotic syndrome, type 4
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AAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATA
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AAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAATCAAATGTGGTATTAAACAGTCTGCTGGCAAAACAGGTCATGTCACACTTACTTGGGGAGTGTGACAGCCGTGTCAAAGGGACTATAACACTTTGCCACCGAATTATGAGCTCAGGACTAAGTTAAAGAAGCATCAAAGGCACCTGAGGAAGGGAAGCAAGATCCCATCCTGCCAACCATGGGCCACAGGTGCCTTGGCTCTGTTTTTAAATGCAGCCAATTTGGGCGAAGAATCTGGGGCTGCTCAGGGGTTTGTGATGTCATGTTTTCCTTCACTCGCTGTTCCTCTGCTCTTCCTGGCCTGGCTCTCACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAGTGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATA
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Task1_train_15558
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A variant found in Chromosome 11 affects WT1 (WT1 transcription factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Wilms tumor 1
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGCTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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Task1_train_15559
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A variant found in Chromosome 11 affects WT1 (WT1 transcription factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; 11p partial monosomy syndrome
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGCTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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Task1_train_15560
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A variant found in Chromosome 11 affects WT1 (WT1 transcription factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Frasier syndrome
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGCTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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Task1_train_15561
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This variant lies on Chromosome 11 and affects the gene WT1 (WT1 transcription factor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Drash syndrome
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGCTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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Task1_train_15562
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The gene WT1 (WT1 transcription factor) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Drash syndrome
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGTTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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Task1_train_15563
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This variant affects the gene WT1 (WT1 transcription factor) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Wilms tumor 1
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGTTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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Task1_train_15564
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A variant on Chromosome 11 in gene WT1 (WT1 transcription factor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; 11p partial monosomy syndrome
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGTTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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Task1_train_15565
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A sequence alteration has been identified in WT1 (WT1 transcription factor) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Frasier syndrome
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGTTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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Task1_train_15566
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This is a variant in WT1 (WT1 transcription factor), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Drash syndrome
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGTTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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Task1_train_15567
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This alteration in WT1 (WT1 transcription factor) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Frasier syndrome
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGTTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGA
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Task1_train_15568
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Here’s a variant in WT1 (WT1 transcription factor) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Nephrotic syndrome, type 4
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15569
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Located on Chromosome 11, this mutation impacts WT1 (WT1 transcription factor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; 11p partial monosomy syndrome
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15570
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This variant impacts the gene WT1 (WT1 transcription factor) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Mesothelioma, malignant
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15571
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The gene WT1 (WT1 transcription factor) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Frasier syndrome
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15572
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Chromosome 11 houses a mutation in gene WT1 (WT1 transcription factor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Wilms tumor 1
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15573
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A variant affecting Chromosome 11, within the gene WT1 (WT1 transcription factor), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Meacham syndrome
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15574
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The variant affects gene WT1 (WT1 transcription factor), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Drash syndrome
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15575
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Assess the clinical impact of this variant on gene WT1 (WT1 transcription factor), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Aniridia 1
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15576
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A sequence alteration has been identified in WT1 (WT1 transcription factor) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; 11p partial monosomy syndrome
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15577
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The gene WT1 (WT1 transcription factor) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Frasier syndrome
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15578
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Here is a mutation in WT1 (WT1 transcription factor) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Wilms tumor 1
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15579
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Given a variant located on Chromosome 11 and affecting WT1 (WT1 transcription factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Drash syndrome
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15580
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Consider this mutation in WT1 (WT1 transcription factor) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Wilms tumor 1
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15581
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A variant was discovered in gene WT1 (WT1 transcription factor), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Nephrotic syndrome, type 4
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15582
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Assess the clinical impact of this variant on gene WT1 (WT1 transcription factor), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Frasier syndrome
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15583
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Gene WT1 (WT1 transcription factor), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Wilms tumor 1
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15584
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This sequence change occurs on Chromosome 11, altering WT1 (WT1 transcription factor). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Drash syndrome
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15585
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This gene mutation involves WT1 (WT1 transcription factor) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Nephrotic syndrome, type 4
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAATGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCT
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Task1_train_15586
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Located on Chromosome 11, this mutation impacts WT1 (WT1 transcription factor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Nephrotic syndrome, type 4
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GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTC
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GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACAAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTC
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Task1_train_15587
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The gene WT1 (WT1 transcription factor), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Frasier syndrome
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GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTC
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GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACAAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTC
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Task1_train_15588
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Located on Chromosome 11, this mutation impacts WT1 (WT1 transcription factor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Wilms tumor 1
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GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTC
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GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACAAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTC
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Task1_train_15589
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Gene WT1 (WT1 transcription factor) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; 11p partial monosomy syndrome
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GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTC
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GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACAAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTC
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Task1_train_15590
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A mutation on Chromosome 11 affecting WT1 (WT1 transcription factor) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Drash syndrome
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GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACGAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTC
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GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCTTGGGTTGGAGTACAGTGGTGGGATCACAGCTCACTGCAGCCTCAGCCTCCCAAGCAAGGTCTAGTGAGCGTCCTACCTCAGCCTCCCCCAAATAGCTGGGACTATAGGTCCACACCACCATGCCCAGCTAGTTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCATCCCAAATAGCTGGGATTACAGGCATGAGCCACCACAGCCGGTCCTACCTTACTCTACTTACAAGCATGTTGTGAAGATAGACTTAGATAAGCTAAATATTAACGCTCTTTCCAAAGGTAGAAAATATGCAACAAAGGTGGTGCTATTTTTATTATGAATCACACCAGCCTTGCAGAAAGCAAAAACCTTCAGCAGCCAGTAAATGAATGCCCTATTCTCCTCTCTGTACTAGTATGAAGGAAATAATATCCACACACTGATACTGGTCCAGCAGAAACCAAGACCGCTCCTGGTGCATTAACTTTTAACAGAGCAAGGACTCAGTTCTCTGAAAATAGTGCCATTAAACATGTGCTCTCAGAAGAATAAATATTTGGCTTGCTAGAATTTCTGCTGCTTTTCTGTAAAGTTGATTATCGTATCAAAGAGAGTAACAAAATGTGTGATGCAACAAACTGGAAACAGTAGGGACCTGGCTTATCTCTTCATTTTCATTCTGCACACTCCAGCCATTCTTTTCCCATCTTTCTCCTTCTCTGTATTTCCACCCTCCCCTTCTTTAAAAAATGTTATTATTTATTATTTAAAGATAGCCACGCACTATTCCTTCTCTCAACTGAGTCTAAACCTTAGAACTTTTACACTAGTCTTTTCCAATCCCTCTCATCACAATTTCATTCCACAATAGTTTAAAAAAATAATGAAAAATAAATGTGAAGAAAAGTTTACGCACTTGTTTTACCTGTATGAGTCCTGGTGTGGGTCTTCAGGTGGTCGGACCGGGAGAACTTTCGCTGACAAGTTTTACACTGGAATGGTTTCACACCTAAATGGACAGAGAAGGTCTAGCCTCGGCCCTAACAATGTGGGCACAGTGAGGCCCACAAGGCTGACTTCCGGCAGCTGGAGGAGCCCAGCATTTCCTGCCATGCCTGCAATGTCTGCATCTGCCTCACCCTTAGATTTCCCCAGTCCCCCAGGCCCAACAAGAATCACTGATTCTGCACAGTAATCTTCAAGGACCTGCTTCTGTCTTGGGAACAACCATTCCTTAACCACAGAGGTCCAGCTTCTCACCAGCTGGAAGATCTCAGCTGTGTCAGAGACAGGAAAAGTGAATCACACGCTACAAATTGGATTCCGCTCTCCATCACCCTCATTCTTTGCTGATGCTCAGTGTATCATCAGCCCACTGCTAGTGGGATCTCACTGTTCTGTGGTTTGCAGGGGAAATGTGGGGTGTTTCCTTTTCTTTCTTTTTCTTTATTTAAGAGGAGGAACATCTCCAGAGATTATGGGGGGAAAATACTGGAAAAACTAAACACATGGCTGACTCTCTCATTCATATTCAACAACAAAGAGAATCATGAAATCAACCCTAGCCCAAGGGAACACAGCTGCCAGCAATGAGAAGTGAACCTACAAACCTGTATGTCTCCTTTGGTGTCTTTTGAGCTGGTCTGAACAAGAAAACCTTCGTTCACAGTCCTTGAAGTCACACTGGTATGGTTTCTCACCTTGGGGAAGACACATATTCTATTTGAAAATGATACTGGAAAAGGGGATCTCATTAAAGGCAACCTCTCCTACTAGGACTGAACAGATCCCAAAATGCCTAAGGCACTTCGCTGGAGCTTGTTAGGGTAGGATGATCCCCAACTTGCAAGTTACAAATGAATGGGAGCTCAGGGGCCAGAGGATTCTGCCCCAAGGCTCACATCTAGCTCTGCCATTAAAAAAAAAAAAAAAGCCCTGGGTGAGGTGTGGTTTCTTTATTGTAAAATGGGTCCAATAATCCAACAACTTTAAAGGATTTATGACCTTCACATAAAGGGCTCAGCCCAGAGCCTGGCATAGAAGGCGTGCTCAAAAACTATTAGCAAATAAAAAACAAAATCTTTAACTCCCAGGCAGAATCTGAGGCAGAATTCTGGGATGCATGTGCCTTGAGGTCAACCTCATGAAATAAGAGTTTTATGTTTTAGGGCCCAAAGATCTGGTGTTCTTTGCTACTGACTCCTTGTTCTTGCATCAAGCAAATATGACTCCATGGTTGTGAGACCCTCAAAACACACCAAAAGCACTGAGAAAGTTTTTGGTGTGCTTTATCCAAGAGAAGTCAGTAGTGGGATTACCCAACCTCCTGTCTCAGAATGGAGAAGCCTCACCCCTGTCCTCACTAGAGAAAGTTCAGCCAAATACTGGGACCTGAGCCCCAAGAGAAGTGAGCAACCCCAGGCCTTCCCACCTTCTTAGGAGAATCCTGAGTCACAGGCATCTGGGATGGAAACAAGCCATTCTAGAATCAGTCAGGTCTTTCTGTTGCAAAGGCAGCCCCCTGTTACCTTTCCAATCTCAAAGCCTGGGCTATTTCCCTCATGAATCTCTATTCCCCACTATGCCAGAGCTCACATCCTGAAGTCCTCCTTGCACTCTGCTCACACTAAATGTCCCCCATCCCTATCTCCACATCGAAAAGTCTCCTGGGTGTCTCCTTCTTCTGCAATGCCTGCTTGGAAACTGCATGGGCCAATTTCCCTTCCTTCCCTCATTACGACATTTATTCCAGGCTGTCTAATGTGGTGAGCTGTGTCTGGGTCTACAATTCTACAATTCTTCAATGGGTTGGAAAATCCTAAGGGCTGGAGCCTTTTTATTTTTATTTTTTCTCAGAGACAGAGTCTCTCTCTGTTGCCCAGACTAAAGCGCAGTGGTGTGAGCCTAGCTCACTGCAGCCTCGAAACCGTGGGCACAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATACACCAGCACACTTGGCTAAATTTTTAAAAATATTTTTTTTAGAGACAGGGTCTCACTATATTGCCCAGGCTGGTCTTGAACCCCTTAAGCAATCCTCCCGCCTACGCCTCCCAACATACTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCCTTTCTTTGTATTTGTATCCAGGTTGGTGCCTTATGTTTCACCTCTGTGAGCTGGAGAAGATGTTACCCCTATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTC
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Task1_train_15591
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The variant affects gene WT1 (WT1 transcription factor), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Drash syndrome
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ATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTCATCTTCTGCAAGGAAGAGTTTCTTAAAGGCTCCAGTGGGTCTGGGGTTTTGGCTGTCTTGTTCACTGCCTTCCCTTCACACAGTTGTCTAACCCTCACTGCATTCTAAGTGCTTCTCTCTCACTAAAAGTTTCTACAACCATATTGCCTTCATTTATTCCCTTGCATTTTTCAGGCAGGACTTTACTTTCTCGTTTTCCTTATAACCTTGACAGTCACTTTTCAAATGATCCCATTTGGGGAAATGTGTAAAAACATAACATGCCACTGGTCCCCTCCTTTTTAGCCTCAAAGTCTGTGGCCCACTGAGTGCAAACTCAGATTGACACCAGAATTGCATCCTCTGGACACAGTGAATTAGCAAATTTCAATGGTCCAAGGAAATCTGAATGCAGCTCACTTTTTTCTCCAGCTTCCCAAGAGCAAAATCAGCAGTAATAACACAGTTGCAACAGTGATCCTATAATAATGCTGTTCTTCGATTGTGGAAAAGGCAGCAGTAGCTCCTCTGTAGGAAAACCTGGGTTTTACCACACTCCCACACTCCCACCTAGTGCCCACAAGGCCCAGAGTAAACGTTCTGTGACATGGCTGTCCACATTCAAGGTGGCCAACACCAAACAATGCCAGTTCTCTGTTTCCCAGAAGCAGCCTCTCTGACCTGGGGGAAAATCCAGTTTCATTGGCGTATCTTCAAAGATAAAAAATCATCATCTCTCTCTCTCCTTTTTTTTTTTTTTGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGTAAGATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCAAGTACAGGTGCGTGCCACCACACCCGGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGGGTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCCATGACTGACCTTTTTTTTTTAAGTGATCACTAAAAAATCAAACTAACAATCAATTTTCCCCTTCCTGTCTAGTTGATTATTACTGACCCAAGCAGGTAAGTTTTTCTTTGGACCATCTCTTCTAAAATTTCACAATGATCTTGCCCATCGACCTCCTAAAACCATCTGATGACTATATTCCCAGGCCAGCTCCTCTCTCCTTAGAAATGCTAATAGTATTCTAACACCAACACGATTCCTACACAGGTCTCTTTAATTCTGTGGCACTTTCTCTCTACCACTCTGCTCTGCCTTTCTGGAAGACAGTTTACTGACCTCTGTAATAAAGGATAGATAATCAGAATGCAAAATGGCCCCACAGCCTCTTTACAACACCTGGATCAGACCTTTCAAAGCAGTGCTTACTTTCCATCCTGGAAATAACCTGGGTCCTTAGCAGTGTGAGAGCCTGGAAAAGGAGCTCTTGAACCATGTTTGCCCAAGACTGGACAGCGGGCACACTTACCAGTGTGCTTCCTGCTGTGCATCTGTAAGTGGGACAGCTTAAAATATCTCTTATTGCAGCCTGGGTAAGCACACATGAAGGGGCGTTTCTCACTGGTCTCAGATGCCGACCGTACAAGAGTCGGGGCTACTCCAGGCACACGTCGCACATCCTGCAGGCAGAGAGTAAGAGGAAGGGAGGCTTTAAGCCACATGTGAACATTCACGTAGGTCTTGAGGGAGAGTGAGCACTGGAGTATATCCAAAGAAGGGGTGGCAGGTGCAGACCTAAAACCACTCCCATTCACACTCCAGATCCCCATGGCAGACATCAGTAATGGATGCTAGATCAGGACATTCTACAATGCAGTGCTCTAAGATCATCACTACTGAGCAACCAGAAGTGGCTGTTGAGATGAAACCTACATGAAATGGCTGTCCCAGAGCCTCTGCAAAAGAAATGCTGGTACCTGGAAGAGCTCCCAATCCATTCTATCTCTCAGCTTCTCCTCTTGAGGTAGTGATGTCTGCAAGTCCAAAGTCCCAAAGTCTAACTACTCCCTCCCACTTGGAGTCATGACCACATGACCTAGAGCCAGTCTGCAATGGGTGGGGACATCCTTATTAGAAAAAAGTGGGATAATGAATGAGCCCCTAACTGACCAGATCGTCCAAGTATAAGTAAATAACAAGGAAGAAGAAGCCCCTGGATTTGGGGATCCCATCTGTGAAAGGAAGCAAAACCCACCAGAAGGCCATGGTGAAGCCAGCACAACCTTTAATAGTGAGGCCAGAAAGCACTGGAATCCATCTGCCTTCTGTGCTCTGCACACGTCCTTTGCAGGGCATCTGTTGCTCCCCTTTATCTTGTGGAAGTGCAGTGTGTGTGTTGTCAGTCTTCCAAGAATAAGAACTGGAGGAAAACAAAGAGGCAAGCTCCCCTTCCTCTTCTTGGGGTCAGGGAGTCATAAATGGGAGCTGAGCAAGTGCCTGAGTGGCCACTAAATTCTCCTCATTCCTTTATAGATGAGTAAATCAACCCCAAAGGCGGTGAGATGCTGACACAAGAGTGCATCCATGTTTTGGTTTTGTTTGTTCTTAAGACAGGATCTTATTCTGTTGTCCAGGCTGGAGTGCAGTGGCACGATCGGGGCTCCTGCAGCCTCGACCTCACCAGCTTAAGTAATCCTCCCACTTCAGCCTCCTGAACAGCTGGGACAACAGGTGAGAGTCATCATGCCCAGCTAATTTTTTTTTTTTTTTTTGGTAGAGATAGGGTCTCCCTATGTTGCTCAGGCTGGTCTCAAACTCTTGAGCTGAAGGGATCCTTCCACCTTGGCCTCCTAGAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCTAAAGTGCATCCATGTTTTGTGCTAAGACCTGGAACCACTTCTGAATATAACCAACTCCTTGCCCTGTGCATTTTCCACTCTACCCCATGCTTATGTTCTAGTCCCTATTTCACATTGCCCTGCACTGAAAGGTCATTTTCTTTTTTGGAAGAATAAATGCTGCAGTGACATACAACACAACATTGATGTTAATAGGCCATAGTGTCTCAGGGATAATGAAGGCATAAAATTAAATGGTGAGCCAGCTGTTGGATTGGAATACTCAATACCTGTCTGGTCTGGAGTGTTTTAGAGGCCATGGCAAGTGAGCCTGACAAACTGGGCTTGATGGGAAAGAAAGCAAAGGAAGCATTTTCCATTTCCCTTAATTCATCCTAGAAGCAGTGCACATGGGAACAGGAGTTGTTAATCTCAGTAAGGGTCCCGGTGAAGGATTCTGATTGTATTCGTCAGGGGAGAGGCTTGATGTCTCCCTAAACCGTCGTCAGATTTCCGTATTTCTGTAACCCTTGCCTTTATTGCTCTCCATTGAAAGGCTTGGGAGTAGGGAGCACACTGTTCTTTCTTCGTGACACTTCTGGAAACATTAATCAGAACATCTCAGAGCTACTTGCCCCACGTATCATGTGGGGTCTGGCCCAGATACAACTTATATCTAGAGTACTGACCATTCTGGTGAAAGTATCACTGCTGTTACTCAGGTTGCAGCCATGGATTGATGTTTATAAGCCATAAATGAA
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ATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAAATAAATAAGAAAATATTGCTCTCTTTCAAGGGGGACTGTAGGATTGTTAAATACCAACCTGCCCTCATCTTCTGCAAGGAAGAGTTTCTTAAAGGCTCCAGTGGGTCTGGGGTTTTGGCTGTCTTGTTCACTGCCTTCCCTTCACACAGTTGTCTAACCCTCACTGCATTCTAAGTGCTTCTCTCTCACTAAAAGTTTCTACAACCATATTGCCTTCATTTATTCCCTTGCATTTTTCAGGCAGGACTTTACTTTCTCGTTTTCCTTATAACCTTGACAGTCACTTTTCAAATGATCCCATTTGGGGAAATGTGTAAAAACATAACATGCCACTGGTCCCCTCCTTTTTAGCCTCAAAGTCTGTGGCCCACTGAGTGCAAACTCAGATTGACACCAGAATTGCATCCTCTGGACACAGTGAATTAGCAAATTTCAATGGTCCAAGGAAATCTGAATGCAGCTCACTTTTTTCTCCAGCTTCCCAAGAGCAAAATCAGCAGTAATAACACAGTTGCAACAGTGATCCTATAATAATGCTGTTCTTCGATTGTGGAAAAGGCAGCAGTAGCTCCTCTGTAGGAAAACCTGGGTTTTACCACACTCCCACACTCCCACCTAGTGCCCACAAGGCCCAGAGTAAACGTTCTGTGACATGGCTGTCCACATTCAAGGTGGCCAACACCAAACAATGCCAGTTCTCTGTTTCCCAGAAGCAGCCTCTCTGACCTGGGGGAAAATCCAGTTTCATTGGCGTATCTTCAAAGATAAAAAATCATCATCTCTCTCTCTCCTTTTTTTTTTTTTTGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGTAAGATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCAAGTACAGGTGCGTGCCACCACACCCGGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGGGTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCCATGACTGACCTTTTTTTTTTAAGTGATCACTAAAAAATCAAACTAACAATCAATTTTCCCCTTCCTGTCTAGTTGATTATTACTGACCCAAGCAGGTAAGTTTTTCTTTGGACCATCTCTTCTAAAATTTCACAATGATCTTGCCCATCGACCTCCTAAAACCATCTGATGACTATATTCCCAGGCCAGCTCCTCTCTCCTTAGAAATGCTAATAGTATTCTAACACCAACACGATTCCTACACAGGTCTCTTTAATTCTGTGGCACTTTCTCTCTACCACTCTGCTCTGCCTTTCTGGAAGACAGTTTACTGACCTCTGTAATAAAGGATAGATAATCAGAATGCAAAATGGCCCCACAGCCTCTTTACAACACCTGGATCAGACCTTTCAAAGCAGTGCTTACTTTCCATCCTGGAAATAACCTGGGTCCTTAGCAGTGTGAGAGCCTGGAAAAGGAGCTCTTGAACCATGTTTGCCCAAGACTGGACAGCGGGCACACTTACCAGTGTGCTTCCTGCTGTGCATCTGTAAGTGGGACAGCTTAAAATATCTCTTATTGTAGCCTGGGTAAGCACACATGAAGGGGCGTTTCTCACTGGTCTCAGATGCCGACCGTACAAGAGTCGGGGCTACTCCAGGCACACGTCGCACATCCTGCAGGCAGAGAGTAAGAGGAAGGGAGGCTTTAAGCCACATGTGAACATTCACGTAGGTCTTGAGGGAGAGTGAGCACTGGAGTATATCCAAAGAAGGGGTGGCAGGTGCAGACCTAAAACCACTCCCATTCACACTCCAGATCCCCATGGCAGACATCAGTAATGGATGCTAGATCAGGACATTCTACAATGCAGTGCTCTAAGATCATCACTACTGAGCAACCAGAAGTGGCTGTTGAGATGAAACCTACATGAAATGGCTGTCCCAGAGCCTCTGCAAAAGAAATGCTGGTACCTGGAAGAGCTCCCAATCCATTCTATCTCTCAGCTTCTCCTCTTGAGGTAGTGATGTCTGCAAGTCCAAAGTCCCAAAGTCTAACTACTCCCTCCCACTTGGAGTCATGACCACATGACCTAGAGCCAGTCTGCAATGGGTGGGGACATCCTTATTAGAAAAAAGTGGGATAATGAATGAGCCCCTAACTGACCAGATCGTCCAAGTATAAGTAAATAACAAGGAAGAAGAAGCCCCTGGATTTGGGGATCCCATCTGTGAAAGGAAGCAAAACCCACCAGAAGGCCATGGTGAAGCCAGCACAACCTTTAATAGTGAGGCCAGAAAGCACTGGAATCCATCTGCCTTCTGTGCTCTGCACACGTCCTTTGCAGGGCATCTGTTGCTCCCCTTTATCTTGTGGAAGTGCAGTGTGTGTGTTGTCAGTCTTCCAAGAATAAGAACTGGAGGAAAACAAAGAGGCAAGCTCCCCTTCCTCTTCTTGGGGTCAGGGAGTCATAAATGGGAGCTGAGCAAGTGCCTGAGTGGCCACTAAATTCTCCTCATTCCTTTATAGATGAGTAAATCAACCCCAAAGGCGGTGAGATGCTGACACAAGAGTGCATCCATGTTTTGGTTTTGTTTGTTCTTAAGACAGGATCTTATTCTGTTGTCCAGGCTGGAGTGCAGTGGCACGATCGGGGCTCCTGCAGCCTCGACCTCACCAGCTTAAGTAATCCTCCCACTTCAGCCTCCTGAACAGCTGGGACAACAGGTGAGAGTCATCATGCCCAGCTAATTTTTTTTTTTTTTTTTGGTAGAGATAGGGTCTCCCTATGTTGCTCAGGCTGGTCTCAAACTCTTGAGCTGAAGGGATCCTTCCACCTTGGCCTCCTAGAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCTAAAGTGCATCCATGTTTTGTGCTAAGACCTGGAACCACTTCTGAATATAACCAACTCCTTGCCCTGTGCATTTTCCACTCTACCCCATGCTTATGTTCTAGTCCCTATTTCACATTGCCCTGCACTGAAAGGTCATTTTCTTTTTTGGAAGAATAAATGCTGCAGTGACATACAACACAACATTGATGTTAATAGGCCATAGTGTCTCAGGGATAATGAAGGCATAAAATTAAATGGTGAGCCAGCTGTTGGATTGGAATACTCAATACCTGTCTGGTCTGGAGTGTTTTAGAGGCCATGGCAAGTGAGCCTGACAAACTGGGCTTGATGGGAAAGAAAGCAAAGGAAGCATTTTCCATTTCCCTTAATTCATCCTAGAAGCAGTGCACATGGGAACAGGAGTTGTTAATCTCAGTAAGGGTCCCGGTGAAGGATTCTGATTGTATTCGTCAGGGGAGAGGCTTGATGTCTCCCTAAACCGTCGTCAGATTTCCGTATTTCTGTAACCCTTGCCTTTATTGCTCTCCATTGAAAGGCTTGGGAGTAGGGAGCACACTGTTCTTTCTTCGTGACACTTCTGGAAACATTAATCAGAACATCTCAGAGCTACTTGCCCCACGTATCATGTGGGGTCTGGCCCAGATACAACTTATATCTAGAGTACTGACCATTCTGGTGAAAGTATCACTGCTGTTACTCAGGTTGCAGCCATGGATTGATGTTTATAAGCCATAAATGAA
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Task1_train_15592
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A genetic alteration is present in WT1 (WT1 transcription factor) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Mesothelioma
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CATTTCCCTTAATTCATCCTAGAAGCAGTGCACATGGGAACAGGAGTTGTTAATCTCAGTAAGGGTCCCGGTGAAGGATTCTGATTGTATTCGTCAGGGGAGAGGCTTGATGTCTCCCTAAACCGTCGTCAGATTTCCGTATTTCTGTAACCCTTGCCTTTATTGCTCTCCATTGAAAGGCTTGGGAGTAGGGAGCACACTGTTCTTTCTTCGTGACACTTCTGGAAACATTAATCAGAACATCTCAGAGCTACTTGCCCCACGTATCATGTGGGGTCTGGCCCAGATACAACTTATATCTAGAGTACTGACCATTCTGGTGAAAGTATCACTGCTGTTACTCAGGTTGCAGCCATGGATTGATGTTTATAAGCCATAAATGAAACCCTTAGTAACTGTATGTGCTTCTGACCACCCAAAACAGAGACTCTGCAGGGAAGGCAGACTGAAGGTCTACGGAGGTGGCAGACCAAAAGTGTCTATTGAATTCTCCAAAACTTTTACCTTTATACTTTACTTTCTTCATGCTCCTTGGAGACTTCTCCCTCCCACAAACTGTTCACCATCCTCTGCCTCCCTAAGAAGCAGTATCGTGAAGTAGGTATAAACAGGGGGTCTGAAGTCAGGCAAGACCTGTGTTATTAGTCTCGGCTCCAATATTTACTAGCGATGTGATTCTGACATTATTCATCACCTCTGGGCTTCAGTTTCCCCATCCATGAAATGGAGAGAATAACAGTACCCACCTCATAAGTGTGTATTGCAGATGAAATGAAGGGGGAAAGGCCACAAATAGACAAGGAGAAACCTTACATGCATATTGCTAAGAGAAAGAAGTCAGCCTGAAAATGCTACATCTAGTATGATTCCAACTATATGACATTCTGAAAAAAGACCGAGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCACCAGGTCAGGAGATCAAGACCATCCTGGCTAACACTGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCTGGAGGCGGAGCTTGCAGTGAGCCAAGATAGCGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAAGACCGGTGATTATTGGGAAGAGAAGAAGAGGGAGGGAAGAACAGGTGGAGTGTAGGGAATTTTAAGGGCAGTGAAACTATTCTGTATGATACTAGAATAATAGGTACATGGCATTATGCATTTTTCAAAACCCATAGAACTGTACAACACAAAAAGTGAACCCTAATGTAAACTATGGGCTTTAGTTAACAATAATTTATCAATATTGGCTCATCAATTATAACAAATGTACCACATCAATACAAAATGGTACTAATAGGGTAAAGTCCATTTTTCTAAAGTCCATGTATAAAGCTTAGCACAATGCCTAGTATATAGAAAATGTCCAGCCATAGGCGGTACAGTTAGTATGATGATCATCAACACTTGGCAAGATGTGAGTCTACCTGTGGACACTTTACGATGTAGACCAAATCTTAGAAGTCAAAGGTCCAAGCGGTTAATTCAAGCCCAATTAGCTTAAATACAAAAGCTGCACAGCCCGCCCTGGAGAAGTCAAATGGAGCAGTAAAGGCAGAAAGGAGAGGATTCTGTTAGGACGCATCTTGCGCAGCGTCAGGCAGCGGGGCAGCCTCTCTAGGAGAGGACACAGCCGCCTTATCAGACCCAGGGGACGAGCAGGTGTCCCTGATGTTAAAGGAGCCTGCAGTGAAGAAGAGGCTGCCAGGGCCAAAGAGTCCATCAGTAAGGAACTAAAGGGCCGGTAAGTAGGAAGAGGCAGTGCGGCCCCCTTCCCGCTGGGGCCTGTCTGTGTGCTCACCTGAATGCCTCTGAAGACACCGTGCGTGTGTATTCTGTATTGGGCTCCGCAGAGGATGGGCGTTGTGTGGTTATCGCTCTCGTACCCTGTGCTGTGGCTGCAAACACAAAGAAGGGAAAAAGGCTCAGTGTGGCTCACAGTCGCCATTTGGAAATGCTTATCTGCAATCAGGAGGGAATGATGGTTTTTAAAGCTCACAGAACAAAAATAGTTGGTTTTTGCCTCCCTCCATGGGGCCACTTTAGATGCAGGGTTCTGCGGAGGGCGAGGCCCCTGGATCCTGGCCGCCACCTCGCAGCCCCTCCCTCATCCTCCGATTCTCGTAGGCGTGCACCGTCACGGTCTAGGTCTCGCTCAGACAAGCCGAGGAAGACCACAGTGGCAGGGTTTCATCCTCGGCAAGTTGTTTACCATCTAGACGGCAGGGCTGACAGCTGCAGGTATCTCAGGAATGAGCAGAATGCCTCAAGCTTCACGTTAAGTGCACTGAATTTGTCGGCACCTCATGACTCAGTTTTTACCAGATAGCACCAAAAAAGTGATGACGCAAGAAGAGATGTCATGTCCTCAGAAGTGGGGATTACATATCTGTGGCCTCACTCTGCTTAAATGACAGGTCAGTTTTCCAGATCAGCTTAACTCTTGGTAGCCAGCCTGTGCTGTAGGTGGGCACTGAAGAATCTTCCTCCAGCATTCCACTGACTAGTCCCCTAACTGGTGCTCAGGTTAAGCTTCGACTACATAGGAAGAGCTGAAAGATGTGCAATGCTGAAAAGGACAACTTGAAAGGAACGAATGTTCTGTTCTAAAATTATTCTCTCCTTCAGATACAATGCCTCTATCTGCTCTACAGTTATTTTACTTCCAGATGAGATGAGGCAGACTGAGGTTTTTCACCCACACCAGCAGCACATTAGAATTACACCTAGAAGCACCGAGGAGAGCTCTTATGAAATAGCTCTGTGAAATGATGCAGCTGCTTTGCAAAATATCTGGCAGTTCCTCAAAAGGTTAGACATAAAGTTAACATATGACCCAGAAATCCCACTCTTAGGGATATTCCCAAGGGAAATGAAAACAGACGTCCACACAAAAACTTGTATACATTGTGCATTAGCAGCATATTCCTAAGAGCCAAAAAGTAGAATCAACCCAAATGTCCATCAACTGATGAATAGATAAATCAAAGAGAGTATCTTCATACAATGGAATATTATTCAGCAATGAAAAGGAATAAAGTACCAATACATGCTACAATATGGATGAACCTTTAAAATACCGTGCTAAGAAGCCATTCACAGAAGACCACATGTAGTATGATTGCATTTCTATAAAATGTCCAGAATAAGCAAATCTGTAGGGACAGAAACTAGATTAGTGGTTGGGTGCCTTGAACTGGGGGAGTTGGGAAGGCAAAGAAAATGACTGCTGAAAACGTCCTAAAATTGTGGTAATGGTCATACAACTGTGAATATACTAAAAACCATTGCATTGTACACTCTAAATCGGTGAATCATACGGTCCGTGCAATCTATAAATCTGCTTTTAAAAAATTATCGGGGGGGGGTGTGGTCCGAGAAGGATGCATCAGTATATTTATTTATTTATTTTGAGATGGAGTCTCGCTTTATCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCACCGCCCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCACGTCACCATACCCGGCTCATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCCAGTCTCGAACTCCTGGCCTTAAATGATCCACCCATCTCTGCCTCCCAAAGTGCGGGGATTACAGGTGTGAGCTACCAGGCCCAGCCGCATCAGCATTTTTAAAAGCCTCCAGGTGGGATTAAACTGGCTGTCAGCACTGAGAATTCCATTCTCTGCCTCCATTACTCTAACAGTTGGTTCCAGGGGTCCTGGGCAGGGAGGCAGGTAAGCTGGTGGGTGGATCAGCCCACTCCATCTGGTGTGGTGTGGGGAAGCCTGGAGTTGACCCAATACTCACTCACCCAGAGGAGAGAGTGCCTGAAGGAAAGAGTGTCTGCCA
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CATTTCCCTTAATTCATCCTAGAAGCAGTGCACATGGGAACAGGAGTTGTTAATCTCAGTAAGGGTCCCGGTGAAGGATTCTGATTGTATTCGTCAGGGGAGAGGCTTGATGTCTCCCTAAACCGTCGTCAGATTTCCGTATTTCTGTAACCCTTGCCTTTATTGCTCTCCATTGAAAGGCTTGGGAGTAGGGAGCACACTGTTCTTTCTTCGTGACACTTCTGGAAACATTAATCAGAACATCTCAGAGCTACTTGCCCCACGTATCATGTGGGGTCTGGCCCAGATACAACTTATATCTAGAGTACTGACCATTCTGGTGAAAGTATCACTGCTGTTACTCAGGTTGCAGCCATGGATTGATGTTTATAAGCCATAAATGAAACCCTTAGTAACTGTATGTGCTTCTGACCACCCAAAACAGAGACTCTGCAGGGAAGGCAGACTGAAGGTCTACGGAGGTGGCAGACCAAAAGTGTCTATTGAATTCTCCAAAACTTTTACCTTTATACTTTACTTTCTTCATGCTCCTTGGAGACTTCTCCCTCCCACAAACTGTTCACCATCCTCTGCCTCCCTAAGAAGCAGTATCGTGAAGTAGGTATAAACAGGGGGTCTGAAGTCAGGCAAGACCTGTGTTATTAGTCTCGGCTCCAATATTTACTAGCGATGTGATTCTGACATTATTCATCACCTCTGGGCTTCAGTTTCCCCATCCATGAAATGGAGAGAATAACAGTACCCACCTCATAAGTGTGTATTGCAGATGAAATGAAGGGGGAAAGGCCACAAATAGACAAGGAGAAACCTTACATGCATATTGCTAAGAGAAAGAAGTCAGCCTGAAAATGCTACATCTAGTATGATTCCAACTATATGACATTCTGAAAAAAGACCGAGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCACCAGGTCAGGAGATCAAGACCATCCTGGCTAACACTGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCTGGAGGCGGAGCTTGCAGTGAGCCAAGATAGCGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAAGACCGGTGATTATTGGGAAGAGAAGAAGAGGGAGGGAAGAACAGGTGGAGTGTAGGGAATTTTAAGGGCAGTGAAACTATTCTGTATGATACTAGAATAATAGGTACATGGCATTATGCATTTTTCAAAACCCATAGAACTGTACAACACAAAAAGTGAACCCTAATGTAAACTATGGGCTTTAGTTAACAATAATTTATCAATATTGGCTCATCAATTATAACAAATGTACCACATCAATACAAAATGGTACTAATAGGGTAAAGTCCATTTTTCTAAAGTCCATGTATAAAGCTTAGCACAATGCCTAGTATATAGAAAATGTCCAGCCATAGGCGGTACAGTTAGTATGATGATCATCAACACTTGGCAAGATGTGAGTCTACCTGTGGACACTTTACGATGTAGACCAAATCTTAGAAGTCAAAGGTCCAAGCGGTTAATTCAAGCCCAATTAGCTTAAATACAAAAGCTGCACAGCCCGCCCTGGAGAAGTCAAATGGAGCAGTAAAGGCAGAAAGGAGAGGATTCTGTTAGGACGCATCTTGCGCAGCGTCAGGCAGCGGGGCAGCCTCTCTAGGAGAGGACACAGCCGCCTTATCAGACCCAGGGGACGAGCAGGTGTCCCTGATGTTAAAGGAGCCTGCAGTGAAGAAGAGGCTGCCAGGGCCAAAGAGTCCATCAGTAAGGAACTAAAGGGCCGGTAAGTAGGAAGAGGCAGTGCGGCCCCCTTCCCGCTGGGGCCTGTCTGTGTGCTCACCTGAATGCCTCTGAAGACACCGTGCGTGTGTATTCTGTATTGGGCTCCGCAGAGGATGGGCGTTGTGTGGTTATCGCCCTCGTACCCTGTGCTGTGGCTGCAAACACAAAGAAGGGAAAAAGGCTCAGTGTGGCTCACAGTCGCCATTTGGAAATGCTTATCTGCAATCAGGAGGGAATGATGGTTTTTAAAGCTCACAGAACAAAAATAGTTGGTTTTTGCCTCCCTCCATGGGGCCACTTTAGATGCAGGGTTCTGCGGAGGGCGAGGCCCCTGGATCCTGGCCGCCACCTCGCAGCCCCTCCCTCATCCTCCGATTCTCGTAGGCGTGCACCGTCACGGTCTAGGTCTCGCTCAGACAAGCCGAGGAAGACCACAGTGGCAGGGTTTCATCCTCGGCAAGTTGTTTACCATCTAGACGGCAGGGCTGACAGCTGCAGGTATCTCAGGAATGAGCAGAATGCCTCAAGCTTCACGTTAAGTGCACTGAATTTGTCGGCACCTCATGACTCAGTTTTTACCAGATAGCACCAAAAAAGTGATGACGCAAGAAGAGATGTCATGTCCTCAGAAGTGGGGATTACATATCTGTGGCCTCACTCTGCTTAAATGACAGGTCAGTTTTCCAGATCAGCTTAACTCTTGGTAGCCAGCCTGTGCTGTAGGTGGGCACTGAAGAATCTTCCTCCAGCATTCCACTGACTAGTCCCCTAACTGGTGCTCAGGTTAAGCTTCGACTACATAGGAAGAGCTGAAAGATGTGCAATGCTGAAAAGGACAACTTGAAAGGAACGAATGTTCTGTTCTAAAATTATTCTCTCCTTCAGATACAATGCCTCTATCTGCTCTACAGTTATTTTACTTCCAGATGAGATGAGGCAGACTGAGGTTTTTCACCCACACCAGCAGCACATTAGAATTACACCTAGAAGCACCGAGGAGAGCTCTTATGAAATAGCTCTGTGAAATGATGCAGCTGCTTTGCAAAATATCTGGCAGTTCCTCAAAAGGTTAGACATAAAGTTAACATATGACCCAGAAATCCCACTCTTAGGGATATTCCCAAGGGAAATGAAAACAGACGTCCACACAAAAACTTGTATACATTGTGCATTAGCAGCATATTCCTAAGAGCCAAAAAGTAGAATCAACCCAAATGTCCATCAACTGATGAATAGATAAATCAAAGAGAGTATCTTCATACAATGGAATATTATTCAGCAATGAAAAGGAATAAAGTACCAATACATGCTACAATATGGATGAACCTTTAAAATACCGTGCTAAGAAGCCATTCACAGAAGACCACATGTAGTATGATTGCATTTCTATAAAATGTCCAGAATAAGCAAATCTGTAGGGACAGAAACTAGATTAGTGGTTGGGTGCCTTGAACTGGGGGAGTTGGGAAGGCAAAGAAAATGACTGCTGAAAACGTCCTAAAATTGTGGTAATGGTCATACAACTGTGAATATACTAAAAACCATTGCATTGTACACTCTAAATCGGTGAATCATACGGTCCGTGCAATCTATAAATCTGCTTTTAAAAAATTATCGGGGGGGGGTGTGGTCCGAGAAGGATGCATCAGTATATTTATTTATTTATTTTGAGATGGAGTCTCGCTTTATCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCACCGCCCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCACGTCACCATACCCGGCTCATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCCAGTCTCGAACTCCTGGCCTTAAATGATCCACCCATCTCTGCCTCCCAAAGTGCGGGGATTACAGGTGTGAGCTACCAGGCCCAGCCGCATCAGCATTTTTAAAAGCCTCCAGGTGGGATTAAACTGGCTGTCAGCACTGAGAATTCCATTCTCTGCCTCCATTACTCTAACAGTTGGTTCCAGGGGTCCTGGGCAGGGAGGCAGGTAAGCTGGTGGGTGGATCAGCCCACTCCATCTGGTGTGGTGTGGGGAAGCCTGGAGTTGACCCAATACTCACTCACCCAGAGGAGAGAGTGCCTGAAGGAAAGAGTGTCTGCCA
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Task1_train_15593
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This gene mutation involves LOC107982234, WT1 (WT1/WT1-AS bi-directional promoter region| WT1 transcription factor) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Nephrotic syndrome, type 4
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CGCTTCTGCATCTATGGAGTATAACTTCAAGCCGGACCCAATCTCCAGGTTGCCCATCTCAGCTGTCCTCTTATAGACGGGGACACTGAGACCTAGAAACTCCCCAAAAGTAACACCAGCCTGCTAAACAAAGGTGGCGCGATCTGATCAAAGAACACAAGCCTCAGCGACCAGTAAGTTGTCCCAACGCCCCTTGAGTACAAAACACTAATTTCACTAACTAAAAGCATAGAGTGGAGGCAACCCTTGGGTCTGCTTGCGGTTCCTCCACAGGACAGTGATCCCAGATTCTCCCGAAGAAAAGGGCGGTTTCGATTTCTCCAAGGCTTCGCGGGGGCCGGGTGCTCCTGGTTAGGCTAAGGTAGGAGCGGCCTGAAGACGCGCGTTTAGAAGGCGCGGGTGAAGGCGGGCAACAAGGGCAGAGCCCTTCTCCCGAGCCTTGGGCGAAGGTACCTCCTGCAAAAGATACACTCTGCTTCCCACGCATTCCAAAAACATCCCGGTCCCTAGGCCCTCGAGTAATTTTGCTCCAGGAAAAGCATCCGCCATTGTATTAGTAAAGCGTTTACTAAATTACCGAATCAAACCGAACTGGCTTAGGTTCTCAATAGCGTGGAAATCCACTGAAAATAAATGAAGAGGGCAAACTACAGGGGCTCCGCAGGTTCGGGTCCGCGCCGCCCAGGCGAAAGAGAGGTGGGCGGGCATCGGCGCGGGATGAGAAACCAACCTGATACTTATCGTGTGCCGAGTTCCCTCCTTGTATCCTGACTAAGCACAGCGAATAACCCTGTCCTTGTTCTAACCCCAGGTCTTGAAGAAATACTGTCCCAGCTGAGCCCCGCGTTTACAAGATGAAGAGGCGCCCCAGATGCGCTGAAAGAAAGGCCAAAGCTCGTGCCTCCTTCCACTGCCTGCGGTAGAACCTGGTCCCGCATAGCTTGGACTCGGATAAGTCAAGTTCTCTTCCATCCCCAGAACCTGCGTGGCCGCCGCCTGAGCGAAGCCCAGTGAAGATCCACTTCTGTATTACCATACGCGGGAGCTATCCACGGACACGACGCTGTTCCAGAAAGCCATTTAGTTACTGGAGGTGCATGTGCTCATTCTAGTTCTCTACGATACTTAATGTGCACCTAAGTGTGTGCCAACACCGTATTATAAGGGCTGGAGGTGCTCCTGGACATTTTAGCGCTGCGGAGGCAGCACAGCACAGGCGCTCACCCCCGCGCTGGTCCCACTCCGAATCCAGAGTCCAGACGTCTGAAAAGCGCTACGCTTGGTGACAATTTGGCGTTTCCTTAATTAACAAAACTCTCCCCAAGGCAGAGCCAGACACTGCGCCGGTCTCCTGGTTCCACTCCCGTGGGGACTAGCAGTCCCGGAATCTCTCGGACTCTAAGGGGCCCCAGACGCCCTCCCGGCTCTTGCGAACAGTCAGGCTCCTAGCTCTGCCTGGCTTTGGAGGATGTCGGGGGCCAGTGCCTGCGTGCACTCCCACTCTCCGGCCTCCTCCCCAGCCGCCGCTTCCGCTATCCTCACGGCCCTTGGGAAGCAGCTGGGTAAGAGCTGCGGTCAAAAGGGGTAGGAGAGGGGGGTGTCCTAGAGCGGAGAGTCCCTGGCGCCACTGCCCCGCGCGTAGGGGGCGCTCCCCGGCCTACTTACCCTGATTGCGAATAGCGGGCTGGCTCTCGAGGCAGCTGGGCAGGTAGGGCGCGTTAGGAAACATCCTGGCCTGGCCGGATGACGCCTGGCTGGGCGGAGGAGGACCGAAGGGCCCGTAGCGACAGGCTCCGGCTGTGCCAGTGAACTGGCCGGAAAAGTGGACAGTGAAGGCGCTCAGGCACTGCTCCTCGTGCGGCTCCGCGCCGCCCCAGCTCGGCTCCTGTTTGATGAAGGAGTGAGGCGGCGGCGGCGGGGGTGGCGGCGGAGCCGGTGGCGGCGCGGGGCCGCCCAACGACCCGTAAGCCGAAGCGCCCGGGGGCGCAAAGTCCAGCACCGGCGCCCACTGCGCCGCGCCGCTCACAGGCAGGGCACAGCCGCCGCCGCCACCCAGGGAGGGGACGGCGGGCAGCAGCGCGTTCAGGTCCCGCACGTCGGAGCCCATTTGCTGCGGCTCAGACCCGGACGCCCCGCGGCTCCTCCGGCCCTGGAGACGTTCAGCGCTGGCCTCGGCGGCGCCTAACTTGGCCCAGATGCCGCCCGGGTCCCGGACTCCCTGCTGCTCTGGCTGCTGTAGGCACCCAGGCCCGGAGCGGAGCGTGTGCTGAGACGCCGGCTCCGGGACACACGTGGAAGCCGGGTCCTGCAGCAAGAGGAAGTCCAGGATCGCGGCGAGGAGACGGCGGGGCCCGGGCGCCTGGGCTGCCGTCCCGGCTCTGGGTGGGTGGGTGGGTGAATGAGTAGGTGGGAGGGAGGGCGGGAAGTGGGGGAGCGGACAGGCGGTCGGGTTGCGGAGAGCCCCCGGGTGTGGGCGCTGCCTTGAACTCCTTACCCCAGCTGCCTGGCTGCCCTCAGCTTCCCAAAGCTCAAATAAGAGGGGCCGGCGGCGCGGGGAAGAGGAGGAGCCAGGAGGCTCGGCCGCTCCATTCACTCAGCAGCCCAAGCCCGGCCAGGCAGCGCGCGCTGCTCCTTGGGGGCGCCCTCGCAGCTGGGGTGAGGGCGGGTCCGAGGGAGCGTCCCTCTCGGAGACACCCTCCTCTTCAACCCAACACGCGCTCTCAGCTGGCCGGTGTGGCACAACCCTCCCCCCACCTCCCCTTCTTGGCCTTCGCCAGTGTGGGAGCCTCGTCTCACTGGAGAGTCCGTTCAGGTAAGCAGTGAGTCCGGGCAGGGTCGAATGCGGTGGGAGTAGAGATGGGGTTGTTAATCTAAAAGAGTGGTTTGGAGGGAGGGGCAGGTAGGCTCCAAGAGGGCGGGAACTTCAGGAAAGCGCAGAAAGAACTCAGTCAAGCTTCAAAGAAGCGTATACCCTTGCTTTGCACCCTTGAGTCTGGCTCTTGCTTCTAGAACTGTCGGGTAGGGGAGTGGCCATGATCTTGGGGTCACTGGGGAAAGAGGTGGCCCTTTGTGGGTTCCAGAGGTCGGGACTGAAAGCGAACGTCCCTCAGTTGGGTGGCCGGGAGTTGCACCAGTTATAAGCCGGGCGTATTTCGATCGGCTAGTAGTTGTTTACTTGGTGAGGTTTGCGCCAGGCGGAAGGCGGTTGCCGCCTACCTAAAATTGGAGTCAGCAGCACTTAGTTTCCCTTTCCAGTGAGGAATATCTAATTCTTCTACGGTTAAGCCGGGAAAACAGCGGCTAGTTTAGGAGGGAAGAAAACCCTTGGGCAAACGCCCAAAGCCTGCGTATATTCCGGCCGGAGCATCCTGGCGCCCAGTTTGGGGAGGAGGGGTGAAGGGGAGGGTTTGGATACGAAGCCCGGCAGGGAGCGGGTAACTCCTGGAGCCACTCCGCCGAGCACTGCCTGTGGCCCTGGTCGAGGATACCATTCTGGTTGCTCAGTGATTGACCAGGAGGCGGAAGCCAGTTAAGGGGACCAAGGAGTGGAGTAGGGAGAACCTCCATCGGCCCACGGGCGCGAGTTAGTGTTCGAATCTTTGGGAGCTCGAAGAGCTTCGCTAAATCTGACTCCCTTCGTCTAGTCTCTGTTTGGCAGCCCCCGCGCCCCAGAGCAGGTGTTTGGGGCGGGTAGGGGGTGTTTTGGTTTGGTTTTTGGATCTTCTAAAGGAGTCAGTATCTATTGGGAAACAACCCCTAGGCAAGGAGAAGAACCGGGGGCCGGAGCGGAGCGTGTTTCAGAGGTGCGTATAAAATCCCAGGGGCGCCAGGAGGCAGCAGCGACGGCGCAGCGTGGGACGGCCAGGCGCGACGGGAGGGAAGCAACCGGTTGCAGTCCGGCCTCCTGTACCTGGCTGGCCCGGGCTGGGGCTGCAAGCTTTCCAGCCAAACTTATGTGAAGCAAAGTAGTTGCAGTTTGACAAAGAATGGCGTTTCAATAAATGACATAGTAATTTTTTACGCTTTGGTTTTTAGCTTGCATTGCATAAACGTTGTCGCCATTAAATTCTGGCTGCGGACCCGAAGTGTGTGCGGG
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CGCTTCTGCATCTATGGAGTATAACTTCAAGCCGGACCCAATCTCCAGGTTGCCCATCTCAGCTGTCCTCTTATAGACGGGGACACTGAGACCTAGAAACTCCCCAAAAGTAACACCAGCCTGCTAAACAAAGGTGGCGCGATCTGATCAAAGAACACAAGCCTCAGCGACCAGTAAGTTGTCCCAACGCCCCTTGAGTACAAAACACTAATTTCACTAACTAAAAGCATAGAGTGGAGGCAACCCTTGGGTCTGCTTGCGGTTCCTCCACAGGACAGTGATCCCAGATTCTCCCGAAGAAAAGGGCGGTTTCGATTTCTCCAAGGCTTCGCGGGGGCCGGGTGCTCCTGGTTAGGCTAAGGTAGGAGCGGCCTGAAGACGCGCGTTTAGAAGGCGCGGGTGAAGGCGGGCAACAAGGGCAGAGCCCTTCTCCCGAGCCTTGGGCGAAGGTACCTCCTGCAAAAGATACACTCTGCTTCCCACGCATTCCAAAAACATCCCGGTCCCTAGGCCCTCGAGTAATTTTGCTCCAGGAAAAGCATCCGCCATTGTATTAGTAAAGCGTTTACTAAATTACCGAATCAAACCGAACTGGCTTAGGTTCTCAATAGCGTGGAAATCCACTGAAAATAAATGAAGAGGGCAAACTACAGGGGCTCCGCAGGTTCGGGTCCGCGCCGCCCAGGCGAAAGAGAGGTGGGCGGGCATCGGCGCGGGATGAGAAACCAACCTGATACTTATCGTGTGCCGAGTTCCCTCCTTGTATCCTGACTAAGCACAGCGAATAACCCTGTCCTTGTTCTAACCCCAGGTCTTGAAGAAATACTGTCCCAGCTGAGCCCCGCGTTTACAAGATGAAGAGGCGCCCCAGATGCGCTGAAAGAAAGGCCAAAGCTCGTGCCTCCTTCCACTGCCTGCGGTAGAACCTGGTCCCGCATAGCTTGGACTCGGATAAGTCAAGTTCTCTTCCATCCCCAGAACCTGCGTGGCCGCCGCCTGAGCGAAGCCCAGTGAAGATCCACTTCTGTATTACCATACGCGGGAGCTATCCACGGACACGACGCTGTTCCAGAAAGCCATTTAGTTACTGGAGGTGCATGTGCTCATTCTAGTTCTCTACGATACTTAATGTGCACCTAAGTGTGTGCCAACACCGTATTATAAGGGCTGGAGGTGCTCCTGGACATTTTAGCGCTGCGGAGGCAGCACAGCACAGGCGCTCACCCCCGCGCTGGTCCCACTCCGAATCCAGAGTCCAGACGTCTGAAAAGCGCTACGCTTGGTGACAATTTGGCGTTTCCTTAATTAACAAAACTCTCCCCAAGGCAGAGCCAGACACTGCGCCGGTCTCCTGGTTCCACTCCCGTGGGGACTAGCAGTCCCGGAATCTCTCGGACTCTAAGGGGCCCCAGACGCCCTCCCGGCTCTTGCGAACAGTCAGGCTCCTAGCTCTGCCTGGCTTTGGAGGATGTCGGGGGCCAGTGCCTGCGTGCACTCCCACTCTCCGGCCTCCTCCCCAGCCGCCGCTTCCGCTATCCTCACGGCCCTTGGGAAGCAGCTGGGTAAGAGCTGCGGTCAAAAGGGGTAGGAGAGGGGGGTGTCCTAGAGCGGAGAGTCCCTGGCGCCACTGCCCCGCGCGTAGGGGGCGCTCCCCGGCCTACTTACCCTGATTGCGAATAGCGGGCTGGCTCTCGAGGCAGCTGGGCAGGTAGGGCGCGTTAGGAAACATCCTGGCCTGGCCGGATGACGCCTGGCTGGGCGGAGGAGGACCGAAGGGCCCGTAGCGACAGGCTCCGGCTGTGCCAGTGAACTGGCCGGAAAAGTGGACAGTGAAGGCGCTCAGGCACTGCTCCTCGTGCGGCTCCGCGCCGCCCCAGCTCGGCTCCTGTTTGATGAAGGAGTGAGGCGGCGGCGGCGGGGGTGGCGGCGGAGCCGGTGGCGGCGCGGGGCCGCCCAACGACCCGTAAGCCGAAGCGCCCGGGGGCGCAAAGTCCAGCACCGGCGCCCACTGCGCCGCGCCGCTCACAGGCAGGGCACAGCCGCCGCCGGCACCCAGGGAGGGGACGGCGGGCAGCAGCGCGTTCAGGTCCCGCACGTCGGAGCCCATTTGCTGCGGCTCAGACCCGGACGCCCCGCGGCTCCTCCGGCCCTGGAGACGTTCAGCGCTGGCCTCGGCGGCGCCTAACTTGGCCCAGATGCCGCCCGGGTCCCGGACTCCCTGCTGCTCTGGCTGCTGTAGGCACCCAGGCCCGGAGCGGAGCGTGTGCTGAGACGCCGGCTCCGGGACACACGTGGAAGCCGGGTCCTGCAGCAAGAGGAAGTCCAGGATCGCGGCGAGGAGACGGCGGGGCCCGGGCGCCTGGGCTGCCGTCCCGGCTCTGGGTGGGTGGGTGGGTGAATGAGTAGGTGGGAGGGAGGGCGGGAAGTGGGGGAGCGGACAGGCGGTCGGGTTGCGGAGAGCCCCCGGGTGTGGGCGCTGCCTTGAACTCCTTACCCCAGCTGCCTGGCTGCCCTCAGCTTCCCAAAGCTCAAATAAGAGGGGCCGGCGGCGCGGGGAAGAGGAGGAGCCAGGAGGCTCGGCCGCTCCATTCACTCAGCAGCCCAAGCCCGGCCAGGCAGCGCGCGCTGCTCCTTGGGGGCGCCCTCGCAGCTGGGGTGAGGGCGGGTCCGAGGGAGCGTCCCTCTCGGAGACACCCTCCTCTTCAACCCAACACGCGCTCTCAGCTGGCCGGTGTGGCACAACCCTCCCCCCACCTCCCCTTCTTGGCCTTCGCCAGTGTGGGAGCCTCGTCTCACTGGAGAGTCCGTTCAGGTAAGCAGTGAGTCCGGGCAGGGTCGAATGCGGTGGGAGTAGAGATGGGGTTGTTAATCTAAAAGAGTGGTTTGGAGGGAGGGGCAGGTAGGCTCCAAGAGGGCGGGAACTTCAGGAAAGCGCAGAAAGAACTCAGTCAAGCTTCAAAGAAGCGTATACCCTTGCTTTGCACCCTTGAGTCTGGCTCTTGCTTCTAGAACTGTCGGGTAGGGGAGTGGCCATGATCTTGGGGTCACTGGGGAAAGAGGTGGCCCTTTGTGGGTTCCAGAGGTCGGGACTGAAAGCGAACGTCCCTCAGTTGGGTGGCCGGGAGTTGCACCAGTTATAAGCCGGGCGTATTTCGATCGGCTAGTAGTTGTTTACTTGGTGAGGTTTGCGCCAGGCGGAAGGCGGTTGCCGCCTACCTAAAATTGGAGTCAGCAGCACTTAGTTTCCCTTTCCAGTGAGGAATATCTAATTCTTCTACGGTTAAGCCGGGAAAACAGCGGCTAGTTTAGGAGGGAAGAAAACCCTTGGGCAAACGCCCAAAGCCTGCGTATATTCCGGCCGGAGCATCCTGGCGCCCAGTTTGGGGAGGAGGGGTGAAGGGGAGGGTTTGGATACGAAGCCCGGCAGGGAGCGGGTAACTCCTGGAGCCACTCCGCCGAGCACTGCCTGTGGCCCTGGTCGAGGATACCATTCTGGTTGCTCAGTGATTGACCAGGAGGCGGAAGCCAGTTAAGGGGACCAAGGAGTGGAGTAGGGAGAACCTCCATCGGCCCACGGGCGCGAGTTAGTGTTCGAATCTTTGGGAGCTCGAAGAGCTTCGCTAAATCTGACTCCCTTCGTCTAGTCTCTGTTTGGCAGCCCCCGCGCCCCAGAGCAGGTGTTTGGGGCGGGTAGGGGGTGTTTTGGTTTGGTTTTTGGATCTTCTAAAGGAGTCAGTATCTATTGGGAAACAACCCCTAGGCAAGGAGAAGAACCGGGGGCCGGAGCGGAGCGTGTTTCAGAGGTGCGTATAAAATCCCAGGGGCGCCAGGAGGCAGCAGCGACGGCGCAGCGTGGGACGGCCAGGCGCGACGGGAGGGAAGCAACCGGTTGCAGTCCGGCCTCCTGTACCTGGCTGGCCCGGGCTGGGGCTGCAAGCTTTCCAGCCAAACTTATGTGAAGCAAAGTAGTTGCAGTTTGACAAAGAATGGCGTTTCAATAAATGACATAGTAATTTTTTACGCTTTGGTTTTTAGCTTGCATTGCATAAACGTTGTCGCCATTAAATTCTGGCTGCGGACCCGAAGTGTGTGCGGG
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Task1_train_15594
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A mutation found in CD59 (CD59 molecule (CD59 blood group)) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; not provided
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TTTTTGCAGAAAGCAACCCCAAAGTTTAAGGCCATTTATATGACCCTTGTTGATTTGGACAGCTTAACAGCCCCATCTCCCCATTTAGTGGCACTCAGATTTTGCTTTAGAGGACTACCTTCTTCCCAGTGTAGTCTGGCCAAAAAGTGGGTACATGACACAAGATAGCAGTAAGCCAATCTCATCCTAGAATCTCAATCCTGAGAGAGGCTTCCAAAACTGTCGACTCCTGGCTTTCTGGAGTGTGGCTGAATTCCCCACCCCCCCGCCCCCAAAAAAGTTCCCAGAAATTCATTTTCTGCTTAAATTCATCAAAATTGTTTCTCATTCCTTAGAACTCACATGAAATGAGCTTCTTTGCTCAGCCGGTGGCTGTGGGCATGGTCAGTACTTCCTCAGGCCAAAAAAAAAAAAAAAAACCTATTGATGTAAGGAAAGACACTGAGCTAACAGAGAACACAGAGCACCAAGGTAATGCTAAGTTTTGATAAGCAAGTTTCTATTTTCCTATGTTCAGGGAACGGCATCAACAGAAGAAAGCTGGCACTGCTCAGGATGTCTTCTTTCAGTTGCTACCATTAAGCATACTGCATATCCTTTTCGGCCATAACCACATTCACCCACTTGTTATATTTCATTTTCAGAAAAGCATCATTCATTGCACTCGGTTTGTCCAACAGAGTATAATCAAGGGTTTTTTTTCAACATTAATCAAGAAATTCCTCCATCTGCAAAAGTCAGCCTATGCCATTAAATACAGCCAAGATCATAAAATACAAATGTCATTAGGTCTACTGAATCTTGAGATTCATTCACTAGAATACACAGGGAAAAGGAAAAAGTTTGCCCTTGTGAAAGGTGTGTATCATTTTTTAGAAGAGCTTCTGAAAGCCTCAAACATCTGTGAGTGTGCTAAGAGCCGTTACAAAGGTATTTTATACAATCTATGCTGAGTCAGCTAGGAGTTAGCAGGAGGCTGGATGCAGATGGTAAAACATACCCCTGCAGATCTGTTGTTATTAAGGATGACCTTTGGAAGTCTCAAACTGTAACCACAAAGGGTGTCCCCACTGCATTCATACTATATACACACATACCTGAACTGCCTTTCTACCAGTAACATTTAAAATAAGCACACTTAATACTGCCAGTCACATGTAGTAGAGTGTTCACTCTGTAACTGTGTGTGGCAAAGCCAAGATATCCTACCATTCCAATAAAAAAAAGGCAAGGAAATAGCTTTAACACACCATTGATGTATGCTATTACACTTTTCCAGTGGAAGATAACAAAGCCCATATAAAATTTAAAGACAGAGGAAAAACTCGATTTTCAGCCACTTGTACCTCTCTAAGTTTTCATGCCCTGCTATCTGGAACACTTCCCCACTTCCCTGCCAGAAGTCCTCTAGCTCTGCATTAAGGATCTTGTTGTCCCTGACTGACACCCACATATGGAACATTTGGCATGCCTCCATGGCAACACGGGATCCCTGAAGTTTATGAAAGCGTTCCATGTGAGAGAGGATGCTCATATACTCCTGCCCCACCCTCCAAAGATGTACTAATGATGCTAACTGACTACATCCAAGGAGCCAGAGGAAAAATAATCTGAGGGCTGCAGAGAACCCACTCAAGCTGTCACTGCAAAGCTGGTCTTCCCAAGAGCAAAGGAGGAAGCATGCAATCTAGTTCAAGTCACACCTACTTCACTCTTAGACTTCTTCCTTCAAGTGGGGCTTCCCTGCAAACAGGACTGGTCTTCAAAGTCTCCCAGAGCCCCTCTATCTTAGCCAGGTTGCTCAAGCTAATTTTATTCTTTCCCAACAGGATCCATTTGGAAAATATCAAGCCTTTAGAATGTGGCAGCAAGAGAAAGCGGACTACGCAGGAACGGGGAGTTTGGGAGAAGCTCTCCTGGTGTTGACTTAGGGATGAAGGCTCCAGGCTGCTGCCAGAAATGGAGTCACCAGCAGAAGAACTGTTTTCTCTGATAAGGATGTCCCACCATTTTCAAGCTGTTCGTTAAAGTTACACAGGTCCTTCTTGCAGCAGTAGTACGTTAGCTCATTTTCCCTCAAGCGGGTTGTGACGTCGTTGAAATTGCAATGCTCAAACTTCCAACACTTGTTATACACTTGTAACCCTGTGGGGAGACACACACAAGGGTAAGAAAGTAAGTGGGAAGAGTTCTGTATCTGCTTTTGAATCCTCAATTCTATTTCGTATGTATCCTGTGCAAGTAGAGACTTCTAGGCAAGATGCTCATCCCAGGTGGGTTGTAAAGGAGAACAATTAAGTAAATAATGATACACCTCTAAATAGAGCTTTTACAGAAAACCAAGGTCTCATCAGAGCCAGTATAGTTATGGGGGTGGGACGGAGGAGGAACAGGCATTTATACTGTTAAGAGGGAAATTTGGTAATATCTGCCAAGATTTTAAACACATGCCCCCTTTGATCCAGCAATTCCACTTTTAGAATTTACGCTATGAAGTTACTTGGGGATTTTTTCCTTTTCTTTTCTTTTTTTTTTTTAGAGAGATAAGGTCTCACTTTCTTGCCCGGTCATCTGGTCTTGAACTCCTGGGCTCAAGTGGTCCTCCTGCTTCAGCCTCCCAAAGTGATAGAATTATAGGGGTGAGCCACCATGCCCAGCCAAAGCTATGTATAAGATATATGCTCAAGAATGGTCAGAAAAAAACCTGAAAAACCCAGTCCATTAATTTTTAAAAAGTGTTAAAGAAATTACAATAGAATTCCTTACAATGCAAGTTCCATGCAGATAAGAAATGACGTGGGCCTTCAAGTGCTAACATGGAAGGAGCTTGATTTAAAAAAAAAAAAATAAAGGTGGGGGGGGGGCAGAAAAATAGGTAAACTGGACTCCATCAAAATTTAAAACTTTTGTGCTTCAAAGGACATTATCAAAAAATAAAAAGATAACTCACAGAAAGGGAGAAAATGTTTGCAAATCACATGTAAACCACCAGGTGCGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGATGGGAGAATTGTTTGAGGCGGGAAGTTTCAGACCAGCCTGGTCAACATGGCAAGACCCCCTCTCTATTTCTTTTTTAAAGTCATATGTAAGAGCATAGTATCCAGGATATAGAAAACATTCTTAAACTCTACAATAAAAAGACTAACCCAATTAAAATATGGACAATGAGGCCAGTGTGATGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCTGAAGTGAGAGGATTGCCTGCGGCCAGCCTGGGCAACATAGTGATATCCCAACTCTACAAAAATAAAAAATAAAAAAATTAGCCAGGCAGGGTGTTGCGCCTTTAGTCTTAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGGACTCAGGACTTTAAGGCTGCAGTGAGCTATGATTGTACTGCTGCATTCCAGCCTAGGCAACAAAGCAAGACCTTGCCTCTTTAAAAAAAAATGGGCAAAGGATTTGAATAAACATTTCTCCAAAGAAGATTCTCAAATGGCCAATAAGTACATGAAAAGATGCTTGATATCATTAGTCATTAGGAACATGCAAATGAAAATCACAGTGAGATACCACTTTATACTCACTAGGATGGCTAAGATCAAGAAAATGGTAAATAGCAAATGTTGCAAGGAAGTGGAAAAAATTGGAACCCTCAAACATTGCTGGTGGGAATGTAAAATGGTGTAGATACTCTGGACAAATTTGGCATTTCTGCAAAAAGTTAAAGATAGAGTTATCCATTTGACTGAGCAATTCCACTCACAAGTGTATATACTTCTGCCATTCTCTGGAAGGATTCCCAAGTAATTTAATACTGTTATCATCATGGAAGAATACACTTCGTTTATGTTTCTATTGAGTTTTTCAAATTTGCCACATGGATAATTTTTAAAATATTTGAAACTTCATTTTAAAAATCATTAGATTATTCAGTAATACAGGAAAAGTTTCTATAAGAACATGCTATCATGGTCTCATTTTTGGAAAAATAGCCTTGGGCACACAGGAAAATAAAGGCCAGATGTATACACTCCAAGTATCTTATCGTAGTTT
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TTTTTGCAGAAAGCAACCCCAAAGTTTAAGGCCATTTATATGACCCTTGTTGATTTGGACAGCTTAACAGCCCCATCTCCCCATTTAGTGGCACTCAGATTTTGCTTTAGAGGACTACCTTCTTCCCAGTGTAGTCTGGCCAAAAAGTGGGTACATGACACAAGATAGCAGTAAGCCAATCTCATCCTAGAATCTCAATCCTGAGAGAGGCTTCCAAAACTGTCGACTCCTGGCTTTCTGGAGTGTGGCTGAATTCCCCACCCCCCCGCCCCCAAAAAAGTTCCCAGAAATTCATTTTCTGCTTAAATTCATCAAAATTGTTTCTCATTCCTTAGAACTCACATGAAATGAGCTTCTTTGCTCAGCCGGTGGCTGTGGGCATGGTCAGTACTTCCTCAGGCCAAAAAAAAAAAAAAAAACCTATTGATGTAAGGAAAGACACTGAGCTAACAGAGAACACAGAGCACCAAGGTAATGCTAAGTTTTGATAAGCAAGTTTCTATTTTCCTATGTTCAGGGAACGGCATCAACAGAAGAAAGCTGGCACTGCTCAGGATGTCTTCTTTCAGTTGCTACCATTAAGCATACTGCATATCCTTTTCGGCCATAACCACATTCACCCACTTGTTATATTTCATTTTCAGAAAAGCATCATTCATTGCACTCGGTTTGTCCAACAGAGTATAATCAAGGGTTTTTTTTCAACATTAATCAAGAAATTCCTCCATCTGCAAAAGTCAGCCTATGCCATTAAATACAGCCAAGATCATAAAATACAAATGTCATTAGGTCTACTGAATCTTGAGATTCATTCACTAGAATACACAGGGAAAAGGAAAAAGTTTGCCCTTGTGAAAGGTGTGTATCATTTTTTAGAAGAGCTTCTGAAAGCCTCAAACATCTGTGAGTGTGCTAAGAGCCGTTACAAAGGTATTTTATACAATCTATGCTGAGTCAGCTAGGAGTTAGCAGGAGGCTGGATGCAGATGGTAAAACATACCCCTGCAGATCTGTTGTTATTAAGGATGACCTTTGGAAGTCTCAAACTGTAACCACAAAGGGTGTCCCCACTGCATTCATACTATATACACACATACCTGAACTGCCTTTCTACCAGTAACATTTAAAATAAGCACACTTAATACTGCCAGTCACATGTAGTAGAGTGTTCACTCTGTAACTGTGTGTGGCAAAGCCAAGATATCCTACCATTCCAATAAAAAAAAGGCAAGGAAATAGCTTTAACACACCATTGATGTATGCTATTACACTTTTCCAGTGGAAGATAACAAAGCCCATATAAAATTTAAAGACAGAGGAAAAACTCGATTTTCAGCCACTTGTACCTCTCTAAGTTTTCATGCCCTGCTATCTGGAACACTTCCCCACTTCCCTGCCAGAAGTCCTCTAGCTCTGCATTAAGGATCTTGTTGTCCCTGACTGACACCCACATATGGAACATTTGGCATGCCTCCATGGCAACACGGGATCCCTGAAGTTTATGAAAGCGTTCCATGTGAGAGAGGATGCTCATATACTCCTGCCCCACCCTCCAAAGATGTACTAATGATGCTAACTGACTACATCCAAGGAGCCAGAGGAAAAATAATCTGAGGGCTGCAGAGAACCCACTCAAGCTGTCACTGCAAAGCTGGTCTTCCCAAGAGCAAAGGAGGAAGCATGCAATCTAGTTCAAGTCACACCTACTTCACTCTTAGACTTCTTCCTTCAAGTGGGGCTTCCCTGCAAACAGGACTGGTCTTCAAAGTCTCCCAGAGCCCCTCTATCTTAGCCAGGTTGCTCAAGCTAATTTTATTCTTTCCCAACAGGATCCATTTGGAAAATATCAAGCCTTTAGAATGTGGCAGCAAGAGAAAGCGGACTACGCAGGAACGGGGAGTTTGGGAGAAGCTCTCCTGGTGTTGACTTAGGGATGAAGGCTCCAGGCTGCTGCCAGAAATGGAGTCACCAGCAGAAGAACTGTTTTCTCTGATAAGGATGTCCCACCATTTTCAAGCTGTTCGTTAAAGTTACACAGGTCCTTCTTGTAGCAGTAGTACGTTAGCTCATTTTCCCTCAAGCGGGTTGTGACGTCGTTGAAATTGCAATGCTCAAACTTCCAACACTTGTTATACACTTGTAACCCTGTGGGGAGACACACACAAGGGTAAGAAAGTAAGTGGGAAGAGTTCTGTATCTGCTTTTGAATCCTCAATTCTATTTCGTATGTATCCTGTGCAAGTAGAGACTTCTAGGCAAGATGCTCATCCCAGGTGGGTTGTAAAGGAGAACAATTAAGTAAATAATGATACACCTCTAAATAGAGCTTTTACAGAAAACCAAGGTCTCATCAGAGCCAGTATAGTTATGGGGGTGGGACGGAGGAGGAACAGGCATTTATACTGTTAAGAGGGAAATTTGGTAATATCTGCCAAGATTTTAAACACATGCCCCCTTTGATCCAGCAATTCCACTTTTAGAATTTACGCTATGAAGTTACTTGGGGATTTTTTCCTTTTCTTTTCTTTTTTTTTTTTAGAGAGATAAGGTCTCACTTTCTTGCCCGGTCATCTGGTCTTGAACTCCTGGGCTCAAGTGGTCCTCCTGCTTCAGCCTCCCAAAGTGATAGAATTATAGGGGTGAGCCACCATGCCCAGCCAAAGCTATGTATAAGATATATGCTCAAGAATGGTCAGAAAAAAACCTGAAAAACCCAGTCCATTAATTTTTAAAAAGTGTTAAAGAAATTACAATAGAATTCCTTACAATGCAAGTTCCATGCAGATAAGAAATGACGTGGGCCTTCAAGTGCTAACATGGAAGGAGCTTGATTTAAAAAAAAAAAAATAAAGGTGGGGGGGGGGCAGAAAAATAGGTAAACTGGACTCCATCAAAATTTAAAACTTTTGTGCTTCAAAGGACATTATCAAAAAATAAAAAGATAACTCACAGAAAGGGAGAAAATGTTTGCAAATCACATGTAAACCACCAGGTGCGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGATGGGAGAATTGTTTGAGGCGGGAAGTTTCAGACCAGCCTGGTCAACATGGCAAGACCCCCTCTCTATTTCTTTTTTAAAGTCATATGTAAGAGCATAGTATCCAGGATATAGAAAACATTCTTAAACTCTACAATAAAAAGACTAACCCAATTAAAATATGGACAATGAGGCCAGTGTGATGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCTGAAGTGAGAGGATTGCCTGCGGCCAGCCTGGGCAACATAGTGATATCCCAACTCTACAAAAATAAAAAATAAAAAAATTAGCCAGGCAGGGTGTTGCGCCTTTAGTCTTAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGGACTCAGGACTTTAAGGCTGCAGTGAGCTATGATTGTACTGCTGCATTCCAGCCTAGGCAACAAAGCAAGACCTTGCCTCTTTAAAAAAAAATGGGCAAAGGATTTGAATAAACATTTCTCCAAAGAAGATTCTCAAATGGCCAATAAGTACATGAAAAGATGCTTGATATCATTAGTCATTAGGAACATGCAAATGAAAATCACAGTGAGATACCACTTTATACTCACTAGGATGGCTAAGATCAAGAAAATGGTAAATAGCAAATGTTGCAAGGAAGTGGAAAAAATTGGAACCCTCAAACATTGCTGGTGGGAATGTAAAATGGTGTAGATACTCTGGACAAATTTGGCATTTCTGCAAAAAGTTAAAGATAGAGTTATCCATTTGACTGAGCAATTCCACTCACAAGTGTATATACTTCTGCCATTCTCTGGAAGGATTCCCAAGTAATTTAATACTGTTATCATCATGGAAGAATACACTTCGTTTATGTTTCTATTGAGTTTTTCAAATTTGCCACATGGATAATTTTTAAAATATTTGAAACTTCATTTTAAAAATCATTAGATTATTCAGTAATACAGGAAAAGTTTCTATAAGAACATGCTATCATGGTCTCATTTTTGGAAAAATAGCCTTGGGCACACAGGAAAATAAAGGCCAGATGTATACACTCCAAGTATCTTATCGTAGTTT
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Task1_train_15595
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A genomic change on Chromosome 11 affects SLC1A2 (solute carrier family 1 member 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Inborn genetic diseases
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AAAGTTGAAGACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGGAACACCCCGTGAAGCACCCTGCCAATGGTGGGCACTTCATCTATACCTAGGGAGGTTAGAGGAAATTCCAAGCAAATTCACAAAAACTCCAGCCCCACTGGGTTTTTTTCCAGTTGTTTCTTGAATGTGTTCACTTCCTGGTTTCAGTTCCTGCTTTTACCAGAAAGAGAGATTGAACCCCTTTTTGGGTGTTAGTCCTTTTTGCTATGGGGGAAGAAGTTAGTGATGTGAGCTGCTCTAAATTAAGCTGACCTACGTGTGACCTACTTCTCTTTACAACCTAGTCTAATTCTAGCCGACGGGAGCTAGGTTTCCCCACCAAGTTGGCCAACGTATGACCTGTTAACAGGTGCAGAGAACATTTTCTCTGGTTTATAGAGGAGCACTGATGGTAAATGCACCCTTTCACTCAATCTAGCGCTGAATGATAAGGTCCCACTTAGCCCCTAAGTGCCTGATCCTGAGTTCCAGCATTTCAGGTACTGGGGTCACTGGTCAACCAGCTGAAGCCTCAACCCAGCTCAGCCCCTGAATCTCCTGGAGTTACCAGAGCCTCACTCACTTCTTTCATGAGGTGGCCAGTCCAGGGGAACAACTTCTCCAGATCACTTAGCTGGCTGGTACCCAAATATGGACCAAAGCTCAGCTTCCTGCCCTTAACTCAGAGTTTAGTCTCCAAAGGGCATCAATTTATACCCTGTTTGAGCAATATTATTTGGTAAGGAGGAAAATACCAGTATAAGCCCACAGAGGAAGAACAAATTCTTTCAAATAAAGTAATTAATTATTTTAGTCAAAGATAATTGATGCTGGGACTCAGGATATACACCTGTTAACAAATCATACATTGGCCAACTTGGTGGTAGTGAAAAATAAGTGAACATGATGCCACATATTAGGAGTAACTTTGTTCTGAAAAACTCAGAGGGCTTTCATACCTAGCATTTCATTTATTTTTAATGCCAATCTCCCTCAATTCCCAATTAAAATAGTAGATAATTTCCTTTTCCATCTATTACCTTTATCAGTATCTGAACAAAATATAATTTAGAAAGGGGAGAAAAGTAGACATTAAAAATTAAGGCCAGGTGCAGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCTTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCACAGGTTGCAGTGAGCTGAGATTGCACCACCGCACTCCAGCATGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAATTTAAAACCACTAGAGGTATCATCACTTGTAACATGTGGCTGTGTTTCCTTTTCTTTTCTTTTTTTTTTTTTCTTTTTTTTGCTGGAGAGAAAGACAAATAGACTGACTAATCGATGGCAAGCTTTTATTTCTTTAGGGTTGATTATCCTCATTTCAGAGACGGGAAAACCAAAGCTCTGAAATGAAATGACATAGACGATCACATTCACTCAACCAAATTGAGATTCTACAGTTAATTAAAAGCCAGGGCAGGAGTATGACCCATGTTAGCCAGGCACTAGTGAGGTAGTCTTACCTGTGATTAAGCTGGAGATGATTAGAGGGAGAATGAGCATTTTTAGCATCCTCATGAGTATATCCCCTGGGAAGGCTATTAACATAACCACATCAGGGTGGATGGGAGATGCCAAGCGAAGAAGCCCTCCACACACTGCTCCCAGGATGACACCTAAAAGGAAGGGGAAAACAATATGAATTTATTTTTTGCCTTCGTCAAATGACTTACTCTAGACACTTATTTCAGCAACATTGACCTTTCTCATGCTTCTGCAGTATTAAATGATGAACAATGTGTAACAAAAACAACATTAGATAAGTGAAGCTGATTTTGATGACTAGCAAGAGAACTTTCTATACCTCCAACTATTCTTAAAAAGTCAGCACCCAAAGAGTCAAGGAGAACTCAAGGCTTTATGAAAGTGCACACTGGCAACTTGACTCCAACTTATTTGAGGCTATTTGTCTACTTGGAGCCAGAAATTGTTTATAGAAATAAACTATAAGGGGCTGGGCACAGTGGCTTGTGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAAATAGTGAAACACCATCTCTACTAAAAATACAAAAATTTAGCTGGGTGTGGTGGCGGAAACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCATTGCACTCCAGTGTGAGCAACAGGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAAGAAAGAAAGAACCCACAAGGACAGATATTGCCTCCTTGCCCAGCTCAAGCTTGGCCACATGGCATGGCATTTAATGTGTGTCTTCTCATTGTAACTGGAGGCAAGATAAAATGAACATTTAATTGACCAAGCTAGTGTGAATTCTATTTTTTTCTTCCCATCTATTTTCTTTGGCTTCCAATAATTTCCTCATGGCTCACTCTCAAGGCTTGTCCTTGACTTCTATGTCCTTTTACATAGCTTTTAGATTGCTGATCTTATGGGAGCTCAAGAATGGACTCTAAGATATATAATTTTGGAGGAAACAATTTAGGCAGAGATGCTGGCAGGGATCTTTCACTTTACAGACTCAAAGTTCCCAGAAGAAAAATTTTATATCTCTGCAAATGGGTGGCCAACATGAATGACCCTTTCAGAAACCACAAGTTGGGTCATAGTACCACTGGCCATAAGGGAGGGATGGAGTTCCAGGAATGCAGGCTACAGTGTTAATTCCACAGATGAGGAAGGAGTAATGTGGCTGAAAGCCTGATTTTTTTTCTTCTGCAGGTAAAAATCCCACTCTCCAACTTCTTCAAGTCCTGTGATGAATTAGATGTGGTTACATGGCGGGTAACCTTTGGAAAACCTAACCATGCCTGTGGTTTCTTATTAAGTGAACTTAGCTGTGGCGAGCTCCCAGTCCTGATCCTGGGCCACTGGCAACCAAGGCATCTGTCTCAAAGGAAAGGCCATGGAATGGAGGGGTTCAGGTAGGTGTGTGCAGGTGGGTGGGTGGGAAGGACAAGTTGTTCACTGCTTCTCTGTGAAACCTAAGTGAGAGCTGCAGAACAAGGGAGGGATTGAGAAAGGAAATGGTGTGGTTGTCATTACAAGAAACTGTATATTGCCCCATTTTCAATAAACCCTCACGGGAATCTTAAGACCAAGATTGTATCAATAGCCTGAGAACAACCATCGCCTGGGTGAGGCCTGAAGCAGAGGAGGAAGAGGACTTGCAAGATGGAGCTGGAGCAGATCAAGGCATTGGGGCAAACATCTTCCACACTGACCTCATTAGCTAATGTGCCCAAATTACCTAAATTAATGATGTGTCTGAAGAAGCTCAGACCTTGGGAGCCATTTTAGTGGGGTTTTGTGCAATACTTGTGCTTATCTTGATGCAGGCGGTTCTCTAAATGTGGTCCATGGACCAATGCTTTGGAACCACCTAGGTTTGCTAATATGTAGATTGCAGGACCTCATTTCAGGTGGCCCAAAGCAAAGTCTCCATAAGTATAGGAATC
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AAAGTTGAAGACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGGAACACCCCGTGAAGCACCCTGCCAATGGTGGGCACTTCATCTATACCTAGGGAGGTTAGAGGAAATTCCAAGCAAATTCACAAAAACTCCAGCCCCACTGGGTTTTTTTCCAGTTGTTTCTTGAATGTGTTCACTTCCTGGTTTCAGTTCCTGCTTTTACCAGAAAGAGAGATTGAACCCCTTTTTGGGTGTTAGTCCTTTTTGCTATGGGGGAAGAAGTTAGTGATGTGAGCTGCTCTAAATTAAGCTGACCTACGTGTGACCTACTTCTCTTTACAACCTAGTCTAATTCTAGCCGACGGGAGCTAGGTTTCCCCACCAAGTTGGCCAACGTATGACCTGTTAACAGGTGCAGAGAACATTTTCTCTGGTTTATAGAGGAGCACTGATGGTAAATGCACCCTTTCACTCAATCTAGCGCTGAATGATAAGGTCCCACTTAGCCCCTAAGTGCCTGATCCTGAGTTCCAGCATTTCAGGTACTGGGGTCACTGGTCAACCAGCTGAAGCCTCAACCCAGCTCAGCCCCTGAATCTCCTGGAGTTACCAGAGCCTCACTCACTTCTTTCATGAGGTGGCCAGTCCAGGGGAACAACTTCTCCAGATCACTTAGCTGGCTGGTACCCAAATATGGACCAAAGCTCAGCTTCCTGCCCTTAACTCAGAGTTTAGTCTCCAAAGGGCATCAATTTATACCCTGTTTGAGCAATATTATTTGGTAAGGAGGAAAATACCAGTATAAGCCCACAGAGGAAGAACAAATTCTTTCAAATAAAGTAATTAATTATTTTAGTCAAAGATAATTGATGCTGGGACTCAGGATATACACCTGTTAACAAATCATACATTGGCCAACTTGGTGGTAGTGAAAAATAAGTGAACATGATGCCACATATTAGGAGTAACTTTGTTCTGAAAAACTCAGAGGGCTTTCATACCTAGCATTTCATTTATTTTTAATGCCAATCTCCCTCAATTCCCAATTAAAATAGTAGATAATTTCCTTTTCCATCTATTACCTTTATCAGTATCTGAACAAAATATAATTTAGAAAGGGGAGAAAAGTAGACATTAAAAATTAAGGCCAGGTGCAGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCTTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCACAGGTTGCAGTGAGCTGAGATTGCACCACCGCACTCCAGCATGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAATTTAAAACCACTAGAGGTATCATCACTTGTAACATGTGGCTGTGTTTCCTTTTCTTTTCTTTTTTTTTTTTTCTTTTTTTTGCTGGAGAGAAAGACAAATAGACTGACTAATCGATGGCAAGCTTTTATTTCTTTAGGGTTGATTATCCTCATTTCAGAGACGGGAAAACCAAAGCTCTGAAATGAAATGACATAGACGATCACATTCACTCAACCAAATTGAGATTCTACAGTTAATTAAAAGCCAGGGCAGGAGTATGACCCATGTTAGCCAGGCACTAGTGAGGTAGTCTTACCTGTGATTAAGCTGGAGATGATTAGAGGGAGAATGAGCATTTTTAGCATCCTCATGGGTATATCCCCTGGGAAGGCTATTAACATAACCACATCAGGGTGGATGGGAGATGCCAAGCGAAGAAGCCCTCCACACACTGCTCCCAGGATGACACCTAAAAGGAAGGGGAAAACAATATGAATTTATTTTTTGCCTTCGTCAAATGACTTACTCTAGACACTTATTTCAGCAACATTGACCTTTCTCATGCTTCTGCAGTATTAAATGATGAACAATGTGTAACAAAAACAACATTAGATAAGTGAAGCTGATTTTGATGACTAGCAAGAGAACTTTCTATACCTCCAACTATTCTTAAAAAGTCAGCACCCAAAGAGTCAAGGAGAACTCAAGGCTTTATGAAAGTGCACACTGGCAACTTGACTCCAACTTATTTGAGGCTATTTGTCTACTTGGAGCCAGAAATTGTTTATAGAAATAAACTATAAGGGGCTGGGCACAGTGGCTTGTGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAAATAGTGAAACACCATCTCTACTAAAAATACAAAAATTTAGCTGGGTGTGGTGGCGGAAACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCATTGCACTCCAGTGTGAGCAACAGGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAAGAAAGAAAGAACCCACAAGGACAGATATTGCCTCCTTGCCCAGCTCAAGCTTGGCCACATGGCATGGCATTTAATGTGTGTCTTCTCATTGTAACTGGAGGCAAGATAAAATGAACATTTAATTGACCAAGCTAGTGTGAATTCTATTTTTTTCTTCCCATCTATTTTCTTTGGCTTCCAATAATTTCCTCATGGCTCACTCTCAAGGCTTGTCCTTGACTTCTATGTCCTTTTACATAGCTTTTAGATTGCTGATCTTATGGGAGCTCAAGAATGGACTCTAAGATATATAATTTTGGAGGAAACAATTTAGGCAGAGATGCTGGCAGGGATCTTTCACTTTACAGACTCAAAGTTCCCAGAAGAAAAATTTTATATCTCTGCAAATGGGTGGCCAACATGAATGACCCTTTCAGAAACCACAAGTTGGGTCATAGTACCACTGGCCATAAGGGAGGGATGGAGTTCCAGGAATGCAGGCTACAGTGTTAATTCCACAGATGAGGAAGGAGTAATGTGGCTGAAAGCCTGATTTTTTTTCTTCTGCAGGTAAAAATCCCACTCTCCAACTTCTTCAAGTCCTGTGATGAATTAGATGTGGTTACATGGCGGGTAACCTTTGGAAAACCTAACCATGCCTGTGGTTTCTTATTAAGTGAACTTAGCTGTGGCGAGCTCCCAGTCCTGATCCTGGGCCACTGGCAACCAAGGCATCTGTCTCAAAGGAAAGGCCATGGAATGGAGGGGTTCAGGTAGGTGTGTGCAGGTGGGTGGGTGGGAAGGACAAGTTGTTCACTGCTTCTCTGTGAAACCTAAGTGAGAGCTGCAGAACAAGGGAGGGATTGAGAAAGGAAATGGTGTGGTTGTCATTACAAGAAACTGTATATTGCCCCATTTTCAATAAACCCTCACGGGAATCTTAAGACCAAGATTGTATCAATAGCCTGAGAACAACCATCGCCTGGGTGAGGCCTGAAGCAGAGGAGGAAGAGGACTTGCAAGATGGAGCTGGAGCAGATCAAGGCATTGGGGCAAACATCTTCCACACTGACCTCATTAGCTAATGTGCCCAAATTACCTAAATTAATGATGTGTCTGAAGAAGCTCAGACCTTGGGAGCCATTTTAGTGGGGTTTTGTGCAATACTTGTGCTTATCTTGATGCAGGCGGTTCTCTAAATGTGGTCCATGGACCAATGCTTTGGAACCACCTAGGTTTGCTAATATGTAGATTGCAGGACCTCATTTCAGGTGGCCCAAAGCAAAGTCTCCATAAGTATAGGAATC
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Task1_train_15596
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A change on Chromosome 11 affects gene SLC1A2 (solute carrier family 1 member 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Developmental and epileptic encephalopathy, 41
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ACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGGAACACCCCGTGAAGCACCCTGCCAATGGTGGGCACTTCATCTATACCTAGGGAGGTTAGAGGAAATTCCAAGCAAATTCACAAAAACTCCAGCCCCACTGGGTTTTTTTCCAGTTGTTTCTTGAATGTGTTCACTTCCTGGTTTCAGTTCCTGCTTTTACCAGAAAGAGAGATTGAACCCCTTTTTGGGTGTTAGTCCTTTTTGCTATGGGGGAAGAAGTTAGTGATGTGAGCTGCTCTAAATTAAGCTGACCTACGTGTGACCTACTTCTCTTTACAACCTAGTCTAATTCTAGCCGACGGGAGCTAGGTTTCCCCACCAAGTTGGCCAACGTATGACCTGTTAACAGGTGCAGAGAACATTTTCTCTGGTTTATAGAGGAGCACTGATGGTAAATGCACCCTTTCACTCAATCTAGCGCTGAATGATAAGGTCCCACTTAGCCCCTAAGTGCCTGATCCTGAGTTCCAGCATTTCAGGTACTGGGGTCACTGGTCAACCAGCTGAAGCCTCAACCCAGCTCAGCCCCTGAATCTCCTGGAGTTACCAGAGCCTCACTCACTTCTTTCATGAGGTGGCCAGTCCAGGGGAACAACTTCTCCAGATCACTTAGCTGGCTGGTACCCAAATATGGACCAAAGCTCAGCTTCCTGCCCTTAACTCAGAGTTTAGTCTCCAAAGGGCATCAATTTATACCCTGTTTGAGCAATATTATTTGGTAAGGAGGAAAATACCAGTATAAGCCCACAGAGGAAGAACAAATTCTTTCAAATAAAGTAATTAATTATTTTAGTCAAAGATAATTGATGCTGGGACTCAGGATATACACCTGTTAACAAATCATACATTGGCCAACTTGGTGGTAGTGAAAAATAAGTGAACATGATGCCACATATTAGGAGTAACTTTGTTCTGAAAAACTCAGAGGGCTTTCATACCTAGCATTTCATTTATTTTTAATGCCAATCTCCCTCAATTCCCAATTAAAATAGTAGATAATTTCCTTTTCCATCTATTACCTTTATCAGTATCTGAACAAAATATAATTTAGAAAGGGGAGAAAAGTAGACATTAAAAATTAAGGCCAGGTGCAGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCTTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCACAGGTTGCAGTGAGCTGAGATTGCACCACCGCACTCCAGCATGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAATTTAAAACCACTAGAGGTATCATCACTTGTAACATGTGGCTGTGTTTCCTTTTCTTTTCTTTTTTTTTTTTTCTTTTTTTTGCTGGAGAGAAAGACAAATAGACTGACTAATCGATGGCAAGCTTTTATTTCTTTAGGGTTGATTATCCTCATTTCAGAGACGGGAAAACCAAAGCTCTGAAATGAAATGACATAGACGATCACATTCACTCAACCAAATTGAGATTCTACAGTTAATTAAAAGCCAGGGCAGGAGTATGACCCATGTTAGCCAGGCACTAGTGAGGTAGTCTTACCTGTGATTAAGCTGGAGATGATTAGAGGGAGAATGAGCATTTTTAGCATCCTCATGAGTATATCCCCTGGGAAGGCTATTAACATAACCACATCAGGGTGGATGGGAGATGCCAAGCGAAGAAGCCCTCCACACACTGCTCCCAGGATGACACCTAAAAGGAAGGGGAAAACAATATGAATTTATTTTTTGCCTTCGTCAAATGACTTACTCTAGACACTTATTTCAGCAACATTGACCTTTCTCATGCTTCTGCAGTATTAAATGATGAACAATGTGTAACAAAAACAACATTAGATAAGTGAAGCTGATTTTGATGACTAGCAAGAGAACTTTCTATACCTCCAACTATTCTTAAAAAGTCAGCACCCAAAGAGTCAAGGAGAACTCAAGGCTTTATGAAAGTGCACACTGGCAACTTGACTCCAACTTATTTGAGGCTATTTGTCTACTTGGAGCCAGAAATTGTTTATAGAAATAAACTATAAGGGGCTGGGCACAGTGGCTTGTGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAAATAGTGAAACACCATCTCTACTAAAAATACAAAAATTTAGCTGGGTGTGGTGGCGGAAACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCATTGCACTCCAGTGTGAGCAACAGGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAAGAAAGAAAGAACCCACAAGGACAGATATTGCCTCCTTGCCCAGCTCAAGCTTGGCCACATGGCATGGCATTTAATGTGTGTCTTCTCATTGTAACTGGAGGCAAGATAAAATGAACATTTAATTGACCAAGCTAGTGTGAATTCTATTTTTTTCTTCCCATCTATTTTCTTTGGCTTCCAATAATTTCCTCATGGCTCACTCTCAAGGCTTGTCCTTGACTTCTATGTCCTTTTACATAGCTTTTAGATTGCTGATCTTATGGGAGCTCAAGAATGGACTCTAAGATATATAATTTTGGAGGAAACAATTTAGGCAGAGATGCTGGCAGGGATCTTTCACTTTACAGACTCAAAGTTCCCAGAAGAAAAATTTTATATCTCTGCAAATGGGTGGCCAACATGAATGACCCTTTCAGAAACCACAAGTTGGGTCATAGTACCACTGGCCATAAGGGAGGGATGGAGTTCCAGGAATGCAGGCTACAGTGTTAATTCCACAGATGAGGAAGGAGTAATGTGGCTGAAAGCCTGATTTTTTTTCTTCTGCAGGTAAAAATCCCACTCTCCAACTTCTTCAAGTCCTGTGATGAATTAGATGTGGTTACATGGCGGGTAACCTTTGGAAAACCTAACCATGCCTGTGGTTTCTTATTAAGTGAACTTAGCTGTGGCGAGCTCCCAGTCCTGATCCTGGGCCACTGGCAACCAAGGCATCTGTCTCAAAGGAAAGGCCATGGAATGGAGGGGTTCAGGTAGGTGTGTGCAGGTGGGTGGGTGGGAAGGACAAGTTGTTCACTGCTTCTCTGTGAAACCTAAGTGAGAGCTGCAGAACAAGGGAGGGATTGAGAAAGGAAATGGTGTGGTTGTCATTACAAGAAACTGTATATTGCCCCATTTTCAATAAACCCTCACGGGAATCTTAAGACCAAGATTGTATCAATAGCCTGAGAACAACCATCGCCTGGGTGAGGCCTGAAGCAGAGGAGGAAGAGGACTTGCAAGATGGAGCTGGAGCAGATCAAGGCATTGGGGCAAACATCTTCCACACTGACCTCATTAGCTAATGTGCCCAAATTACCTAAATTAATGATGTGTCTGAAGAAGCTCAGACCTTGGGAGCCATTTTAGTGGGGTTTTGTGCAATACTTGTGCTTATCTTGATGCAGGCGGTTCTCTAAATGTGGTCCATGGACCAATGCTTTGGAACCACCTAGGTTTGCTAATATGTAGATTGCAGGACCTCATTTCAGGTGGCCCAAAGCAAAGTCTCCATAAGTATAGGAATCCACATGCCAA
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ACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGGAACACCCCGTGAAGCACCCTGCCAATGGTGGGCACTTCATCTATACCTAGGGAGGTTAGAGGAAATTCCAAGCAAATTCACAAAAACTCCAGCCCCACTGGGTTTTTTTCCAGTTGTTTCTTGAATGTGTTCACTTCCTGGTTTCAGTTCCTGCTTTTACCAGAAAGAGAGATTGAACCCCTTTTTGGGTGTTAGTCCTTTTTGCTATGGGGGAAGAAGTTAGTGATGTGAGCTGCTCTAAATTAAGCTGACCTACGTGTGACCTACTTCTCTTTACAACCTAGTCTAATTCTAGCCGACGGGAGCTAGGTTTCCCCACCAAGTTGGCCAACGTATGACCTGTTAACAGGTGCAGAGAACATTTTCTCTGGTTTATAGAGGAGCACTGATGGTAAATGCACCCTTTCACTCAATCTAGCGCTGAATGATAAGGTCCCACTTAGCCCCTAAGTGCCTGATCCTGAGTTCCAGCATTTCAGGTACTGGGGTCACTGGTCAACCAGCTGAAGCCTCAACCCAGCTCAGCCCCTGAATCTCCTGGAGTTACCAGAGCCTCACTCACTTCTTTCATGAGGTGGCCAGTCCAGGGGAACAACTTCTCCAGATCACTTAGCTGGCTGGTACCCAAATATGGACCAAAGCTCAGCTTCCTGCCCTTAACTCAGAGTTTAGTCTCCAAAGGGCATCAATTTATACCCTGTTTGAGCAATATTATTTGGTAAGGAGGAAAATACCAGTATAAGCCCACAGAGGAAGAACAAATTCTTTCAAATAAAGTAATTAATTATTTTAGTCAAAGATAATTGATGCTGGGACTCAGGATATACACCTGTTAACAAATCATACATTGGCCAACTTGGTGGTAGTGAAAAATAAGTGAACATGATGCCACATATTAGGAGTAACTTTGTTCTGAAAAACTCAGAGGGCTTTCATACCTAGCATTTCATTTATTTTTAATGCCAATCTCCCTCAATTCCCAATTAAAATAGTAGATAATTTCCTTTTCCATCTATTACCTTTATCAGTATCTGAACAAAATATAATTTAGAAAGGGGAGAAAAGTAGACATTAAAAATTAAGGCCAGGTGCAGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCTTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCACAGGTTGCAGTGAGCTGAGATTGCACCACCGCACTCCAGCATGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAATTTAAAACCACTAGAGGTATCATCACTTGTAACATGTGGCTGTGTTTCCTTTTCTTTTCTTTTTTTTTTTTTCTTTTTTTTGCTGGAGAGAAAGACAAATAGACTGACTAATCGATGGCAAGCTTTTATTTCTTTAGGGTTGATTATCCTCATTTCAGAGACGGGAAAACCAAAGCTCTGAAATGAAATGACATAGACGATCACATTCACTCAACCAAATTGAGATTCTACAGTTAATTAAAAGCCAGGGCAGGAGTATGACCCATGTTAGCCAGGCACTAGTGAGGTAGTCTTACCTGTGATTAAGCTGGAGATGATTAGAGGGAGAATGAGCATTTTTAGCATCCTCATGAGTATATCCCGTGGGAAGGCTATTAACATAACCACATCAGGGTGGATGGGAGATGCCAAGCGAAGAAGCCCTCCACACACTGCTCCCAGGATGACACCTAAAAGGAAGGGGAAAACAATATGAATTTATTTTTTGCCTTCGTCAAATGACTTACTCTAGACACTTATTTCAGCAACATTGACCTTTCTCATGCTTCTGCAGTATTAAATGATGAACAATGTGTAACAAAAACAACATTAGATAAGTGAAGCTGATTTTGATGACTAGCAAGAGAACTTTCTATACCTCCAACTATTCTTAAAAAGTCAGCACCCAAAGAGTCAAGGAGAACTCAAGGCTTTATGAAAGTGCACACTGGCAACTTGACTCCAACTTATTTGAGGCTATTTGTCTACTTGGAGCCAGAAATTGTTTATAGAAATAAACTATAAGGGGCTGGGCACAGTGGCTTGTGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAAATAGTGAAACACCATCTCTACTAAAAATACAAAAATTTAGCTGGGTGTGGTGGCGGAAACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCATTGCACTCCAGTGTGAGCAACAGGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAAGAAAGAAAGAACCCACAAGGACAGATATTGCCTCCTTGCCCAGCTCAAGCTTGGCCACATGGCATGGCATTTAATGTGTGTCTTCTCATTGTAACTGGAGGCAAGATAAAATGAACATTTAATTGACCAAGCTAGTGTGAATTCTATTTTTTTCTTCCCATCTATTTTCTTTGGCTTCCAATAATTTCCTCATGGCTCACTCTCAAGGCTTGTCCTTGACTTCTATGTCCTTTTACATAGCTTTTAGATTGCTGATCTTATGGGAGCTCAAGAATGGACTCTAAGATATATAATTTTGGAGGAAACAATTTAGGCAGAGATGCTGGCAGGGATCTTTCACTTTACAGACTCAAAGTTCCCAGAAGAAAAATTTTATATCTCTGCAAATGGGTGGCCAACATGAATGACCCTTTCAGAAACCACAAGTTGGGTCATAGTACCACTGGCCATAAGGGAGGGATGGAGTTCCAGGAATGCAGGCTACAGTGTTAATTCCACAGATGAGGAAGGAGTAATGTGGCTGAAAGCCTGATTTTTTTTCTTCTGCAGGTAAAAATCCCACTCTCCAACTTCTTCAAGTCCTGTGATGAATTAGATGTGGTTACATGGCGGGTAACCTTTGGAAAACCTAACCATGCCTGTGGTTTCTTATTAAGTGAACTTAGCTGTGGCGAGCTCCCAGTCCTGATCCTGGGCCACTGGCAACCAAGGCATCTGTCTCAAAGGAAAGGCCATGGAATGGAGGGGTTCAGGTAGGTGTGTGCAGGTGGGTGGGTGGGAAGGACAAGTTGTTCACTGCTTCTCTGTGAAACCTAAGTGAGAGCTGCAGAACAAGGGAGGGATTGAGAAAGGAAATGGTGTGGTTGTCATTACAAGAAACTGTATATTGCCCCATTTTCAATAAACCCTCACGGGAATCTTAAGACCAAGATTGTATCAATAGCCTGAGAACAACCATCGCCTGGGTGAGGCCTGAAGCAGAGGAGGAAGAGGACTTGCAAGATGGAGCTGGAGCAGATCAAGGCATTGGGGCAAACATCTTCCACACTGACCTCATTAGCTAATGTGCCCAAATTACCTAAATTAATGATGTGTCTGAAGAAGCTCAGACCTTGGGAGCCATTTTAGTGGGGTTTTGTGCAATACTTGTGCTTATCTTGATGCAGGCGGTTCTCTAAATGTGGTCCATGGACCAATGCTTTGGAACCACCTAGGTTTGCTAATATGTAGATTGCAGGACCTCATTTCAGGTGGCCCAAAGCAAAGTCTCCATAAGTATAGGAATCCACATGCCAA
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Task1_train_15597
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This variant affects gene SLC1A2 (solute carrier family 1 member 2) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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ACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGGAACACCCCGTGAAGCACCCTGCCAATGGTGGGCACTTCATCTATACCTAGGGAGGTTAGAGGAAATTCCAAGCAAATTCACAAAAACTCCAGCCCCACTGGGTTTTTTTCCAGTTGTTTCTTGAATGTGTTCACTTCCTGGTTTCAGTTCCTGCTTTTACCAGAAAGAGAGATTGAACCCCTTTTTGGGTGTTAGTCCTTTTTGCTATGGGGGAAGAAGTTAGTGATGTGAGCTGCTCTAAATTAAGCTGACCTACGTGTGACCTACTTCTCTTTACAACCTAGTCTAATTCTAGCCGACGGGAGCTAGGTTTCCCCACCAAGTTGGCCAACGTATGACCTGTTAACAGGTGCAGAGAACATTTTCTCTGGTTTATAGAGGAGCACTGATGGTAAATGCACCCTTTCACTCAATCTAGCGCTGAATGATAAGGTCCCACTTAGCCCCTAAGTGCCTGATCCTGAGTTCCAGCATTTCAGGTACTGGGGTCACTGGTCAACCAGCTGAAGCCTCAACCCAGCTCAGCCCCTGAATCTCCTGGAGTTACCAGAGCCTCACTCACTTCTTTCATGAGGTGGCCAGTCCAGGGGAACAACTTCTCCAGATCACTTAGCTGGCTGGTACCCAAATATGGACCAAAGCTCAGCTTCCTGCCCTTAACTCAGAGTTTAGTCTCCAAAGGGCATCAATTTATACCCTGTTTGAGCAATATTATTTGGTAAGGAGGAAAATACCAGTATAAGCCCACAGAGGAAGAACAAATTCTTTCAAATAAAGTAATTAATTATTTTAGTCAAAGATAATTGATGCTGGGACTCAGGATATACACCTGTTAACAAATCATACATTGGCCAACTTGGTGGTAGTGAAAAATAAGTGAACATGATGCCACATATTAGGAGTAACTTTGTTCTGAAAAACTCAGAGGGCTTTCATACCTAGCATTTCATTTATTTTTAATGCCAATCTCCCTCAATTCCCAATTAAAATAGTAGATAATTTCCTTTTCCATCTATTACCTTTATCAGTATCTGAACAAAATATAATTTAGAAAGGGGAGAAAAGTAGACATTAAAAATTAAGGCCAGGTGCAGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCTTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCACAGGTTGCAGTGAGCTGAGATTGCACCACCGCACTCCAGCATGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAATTTAAAACCACTAGAGGTATCATCACTTGTAACATGTGGCTGTGTTTCCTTTTCTTTTCTTTTTTTTTTTTTCTTTTTTTTGCTGGAGAGAAAGACAAATAGACTGACTAATCGATGGCAAGCTTTTATTTCTTTAGGGTTGATTATCCTCATTTCAGAGACGGGAAAACCAAAGCTCTGAAATGAAATGACATAGACGATCACATTCACTCAACCAAATTGAGATTCTACAGTTAATTAAAAGCCAGGGCAGGAGTATGACCCATGTTAGCCAGGCACTAGTGAGGTAGTCTTACCTGTGATTAAGCTGGAGATGATTAGAGGGAGAATGAGCATTTTTAGCATCCTCATGAGTATATCCCCTGGGAAGGCTATTAACATAACCACATCAGGGTGGATGGGAGATGCCAAGCGAAGAAGCCCTCCACACACTGCTCCCAGGATGACACCTAAAAGGAAGGGGAAAACAATATGAATTTATTTTTTGCCTTCGTCAAATGACTTACTCTAGACACTTATTTCAGCAACATTGACCTTTCTCATGCTTCTGCAGTATTAAATGATGAACAATGTGTAACAAAAACAACATTAGATAAGTGAAGCTGATTTTGATGACTAGCAAGAGAACTTTCTATACCTCCAACTATTCTTAAAAAGTCAGCACCCAAAGAGTCAAGGAGAACTCAAGGCTTTATGAAAGTGCACACTGGCAACTTGACTCCAACTTATTTGAGGCTATTTGTCTACTTGGAGCCAGAAATTGTTTATAGAAATAAACTATAAGGGGCTGGGCACAGTGGCTTGTGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAAATAGTGAAACACCATCTCTACTAAAAATACAAAAATTTAGCTGGGTGTGGTGGCGGAAACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCATTGCACTCCAGTGTGAGCAACAGGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAAGAAAGAAAGAACCCACAAGGACAGATATTGCCTCCTTGCCCAGCTCAAGCTTGGCCACATGGCATGGCATTTAATGTGTGTCTTCTCATTGTAACTGGAGGCAAGATAAAATGAACATTTAATTGACCAAGCTAGTGTGAATTCTATTTTTTTCTTCCCATCTATTTTCTTTGGCTTCCAATAATTTCCTCATGGCTCACTCTCAAGGCTTGTCCTTGACTTCTATGTCCTTTTACATAGCTTTTAGATTGCTGATCTTATGGGAGCTCAAGAATGGACTCTAAGATATATAATTTTGGAGGAAACAATTTAGGCAGAGATGCTGGCAGGGATCTTTCACTTTACAGACTCAAAGTTCCCAGAAGAAAAATTTTATATCTCTGCAAATGGGTGGCCAACATGAATGACCCTTTCAGAAACCACAAGTTGGGTCATAGTACCACTGGCCATAAGGGAGGGATGGAGTTCCAGGAATGCAGGCTACAGTGTTAATTCCACAGATGAGGAAGGAGTAATGTGGCTGAAAGCCTGATTTTTTTTCTTCTGCAGGTAAAAATCCCACTCTCCAACTTCTTCAAGTCCTGTGATGAATTAGATGTGGTTACATGGCGGGTAACCTTTGGAAAACCTAACCATGCCTGTGGTTTCTTATTAAGTGAACTTAGCTGTGGCGAGCTCCCAGTCCTGATCCTGGGCCACTGGCAACCAAGGCATCTGTCTCAAAGGAAAGGCCATGGAATGGAGGGGTTCAGGTAGGTGTGTGCAGGTGGGTGGGTGGGAAGGACAAGTTGTTCACTGCTTCTCTGTGAAACCTAAGTGAGAGCTGCAGAACAAGGGAGGGATTGAGAAAGGAAATGGTGTGGTTGTCATTACAAGAAACTGTATATTGCCCCATTTTCAATAAACCCTCACGGGAATCTTAAGACCAAGATTGTATCAATAGCCTGAGAACAACCATCGCCTGGGTGAGGCCTGAAGCAGAGGAGGAAGAGGACTTGCAAGATGGAGCTGGAGCAGATCAAGGCATTGGGGCAAACATCTTCCACACTGACCTCATTAGCTAATGTGCCCAAATTACCTAAATTAATGATGTGTCTGAAGAAGCTCAGACCTTGGGAGCCATTTTAGTGGGGTTTTGTGCAATACTTGTGCTTATCTTGATGCAGGCGGTTCTCTAAATGTGGTCCATGGACCAATGCTTTGGAACCACCTAGGTTTGCTAATATGTAGATTGCAGGACCTCATTTCAGGTGGCCCAAAGCAAAGTCTCCATAAGTATAGGAATCCACATGCCAA
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ACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGGAACACCCCGTGAAGCACCCTGCCAATGGTGGGCACTTCATCTATACCTAGGGAGGTTAGAGGAAATTCCAAGCAAATTCACAAAAACTCCAGCCCCACTGGGTTTTTTTCCAGTTGTTTCTTGAATGTGTTCACTTCCTGGTTTCAGTTCCTGCTTTTACCAGAAAGAGAGATTGAACCCCTTTTTGGGTGTTAGTCCTTTTTGCTATGGGGGAAGAAGTTAGTGATGTGAGCTGCTCTAAATTAAGCTGACCTACGTGTGACCTACTTCTCTTTACAACCTAGTCTAATTCTAGCCGACGGGAGCTAGGTTTCCCCACCAAGTTGGCCAACGTATGACCTGTTAACAGGTGCAGAGAACATTTTCTCTGGTTTATAGAGGAGCACTGATGGTAAATGCACCCTTTCACTCAATCTAGCGCTGAATGATAAGGTCCCACTTAGCCCCTAAGTGCCTGATCCTGAGTTCCAGCATTTCAGGTACTGGGGTCACTGGTCAACCAGCTGAAGCCTCAACCCAGCTCAGCCCCTGAATCTCCTGGAGTTACCAGAGCCTCACTCACTTCTTTCATGAGGTGGCCAGTCCAGGGGAACAACTTCTCCAGATCACTTAGCTGGCTGGTACCCAAATATGGACCAAAGCTCAGCTTCCTGCCCTTAACTCAGAGTTTAGTCTCCAAAGGGCATCAATTTATACCCTGTTTGAGCAATATTATTTGGTAAGGAGGAAAATACCAGTATAAGCCCACAGAGGAAGAACAAATTCTTTCAAATAAAGTAATTAATTATTTTAGTCAAAGATAATTGATGCTGGGACTCAGGATATACACCTGTTAACAAATCATACATTGGCCAACTTGGTGGTAGTGAAAAATAAGTGAACATGATGCCACATATTAGGAGTAACTTTGTTCTGAAAAACTCAGAGGGCTTTCATACCTAGCATTTCATTTATTTTTAATGCCAATCTCCCTCAATTCCCAATTAAAATAGTAGATAATTTCCTTTTCCATCTATTACCTTTATCAGTATCTGAACAAAATATAATTTAGAAAGGGGAGAAAAGTAGACATTAAAAATTAAGGCCAGGTGCAGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCTTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCACAGGTTGCAGTGAGCTGAGATTGCACCACCGCACTCCAGCATGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAATTTAAAACCACTAGAGGTATCATCACTTGTAACATGTGGCTGTGTTTCCTTTTCTTTTCTTTTTTTTTTTTTCTTTTTTTTGCTGGAGAGAAAGACAAATAGACTGACTAATCGATGGCAAGCTTTTATTTCTTTAGGGTTGATTATCCTCATTTCAGAGACGGGAAAACCAAAGCTCTGAAATGAAATGACATAGACGATCACATTCACTCAACCAAATTGAGATTCTACAGTTAATTAAAAGCCAGGGCAGGAGTATGACCCATGTTAGCCAGGCACTAGTGAGGTAGTCTTACCTGTGATTAAGCTGGAGATGATTAGAGGGAGAATGAGCATTTTTAGCATCCTCATGAGTATATCCCTTGGGAAGGCTATTAACATAACCACATCAGGGTGGATGGGAGATGCCAAGCGAAGAAGCCCTCCACACACTGCTCCCAGGATGACACCTAAAAGGAAGGGGAAAACAATATGAATTTATTTTTTGCCTTCGTCAAATGACTTACTCTAGACACTTATTTCAGCAACATTGACCTTTCTCATGCTTCTGCAGTATTAAATGATGAACAATGTGTAACAAAAACAACATTAGATAAGTGAAGCTGATTTTGATGACTAGCAAGAGAACTTTCTATACCTCCAACTATTCTTAAAAAGTCAGCACCCAAAGAGTCAAGGAGAACTCAAGGCTTTATGAAAGTGCACACTGGCAACTTGACTCCAACTTATTTGAGGCTATTTGTCTACTTGGAGCCAGAAATTGTTTATAGAAATAAACTATAAGGGGCTGGGCACAGTGGCTTGTGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAAATAGTGAAACACCATCTCTACTAAAAATACAAAAATTTAGCTGGGTGTGGTGGCGGAAACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCATTGCACTCCAGTGTGAGCAACAGGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAAGAAAGAAAGAACCCACAAGGACAGATATTGCCTCCTTGCCCAGCTCAAGCTTGGCCACATGGCATGGCATTTAATGTGTGTCTTCTCATTGTAACTGGAGGCAAGATAAAATGAACATTTAATTGACCAAGCTAGTGTGAATTCTATTTTTTTCTTCCCATCTATTTTCTTTGGCTTCCAATAATTTCCTCATGGCTCACTCTCAAGGCTTGTCCTTGACTTCTATGTCCTTTTACATAGCTTTTAGATTGCTGATCTTATGGGAGCTCAAGAATGGACTCTAAGATATATAATTTTGGAGGAAACAATTTAGGCAGAGATGCTGGCAGGGATCTTTCACTTTACAGACTCAAAGTTCCCAGAAGAAAAATTTTATATCTCTGCAAATGGGTGGCCAACATGAATGACCCTTTCAGAAACCACAAGTTGGGTCATAGTACCACTGGCCATAAGGGAGGGATGGAGTTCCAGGAATGCAGGCTACAGTGTTAATTCCACAGATGAGGAAGGAGTAATGTGGCTGAAAGCCTGATTTTTTTTCTTCTGCAGGTAAAAATCCCACTCTCCAACTTCTTCAAGTCCTGTGATGAATTAGATGTGGTTACATGGCGGGTAACCTTTGGAAAACCTAACCATGCCTGTGGTTTCTTATTAAGTGAACTTAGCTGTGGCGAGCTCCCAGTCCTGATCCTGGGCCACTGGCAACCAAGGCATCTGTCTCAAAGGAAAGGCCATGGAATGGAGGGGTTCAGGTAGGTGTGTGCAGGTGGGTGGGTGGGAAGGACAAGTTGTTCACTGCTTCTCTGTGAAACCTAAGTGAGAGCTGCAGAACAAGGGAGGGATTGAGAAAGGAAATGGTGTGGTTGTCATTACAAGAAACTGTATATTGCCCCATTTTCAATAAACCCTCACGGGAATCTTAAGACCAAGATTGTATCAATAGCCTGAGAACAACCATCGCCTGGGTGAGGCCTGAAGCAGAGGAGGAAGAGGACTTGCAAGATGGAGCTGGAGCAGATCAAGGCATTGGGGCAAACATCTTCCACACTGACCTCATTAGCTAATGTGCCCAAATTACCTAAATTAATGATGTGTCTGAAGAAGCTCAGACCTTGGGAGCCATTTTAGTGGGGTTTTGTGCAATACTTGTGCTTATCTTGATGCAGGCGGTTCTCTAAATGTGGTCCATGGACCAATGCTTTGGAACCACCTAGGTTTGCTAATATGTAGATTGCAGGACCTCATTTCAGGTGGCCCAAAGCAAAGTCTCCATAAGTATAGGAATCCACATGCCAA
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Task1_train_15598
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A variant has been detected on Chromosome 11 in TRIM44 (tripartite motif containing 44). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Aniridia 3
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CAATGTAAAACAGACACCATTCCATCCCCTTTCATCCTTCTTAATACACCTCAGCCTCTCCCTTGACTAGATAAAAACGTAATTTTCCCTCTCCCAAATACAGTGCAAAACAAAAACTCTTCTGTGAATGGAGAGACATGGATATGGGGTAGAGGTGGAGACTTGCCTACATTACCAGCAGCCAGCCGAAAATGCCCTGTGTGTGTAAAATATGTTCCTTCAAAGGGGCATTGTGAGCACTAAATATAATTTGTGCCAAAAATAATAATGAAAGCTTAGTGAATACTCTACAGTGCAGGCATCGTTACATTTAATCCACAAAACTACCCCATGAGGTAGATATTTACCGTTCTTTTCACTTAACATCTTTTTTAAAAAGCGGAAAACAGAATGATGAATTAACTTGTCCATGGTCATAAAACTGATAGGTAGTGGCACCAGGATTTGGGGACCATCGGGCAGAGGATCTTCCAAAACCGGCTTTTAAAGAGCCACAAAAAGATGTAGCCGGGTTCTTGGCACTACAGTACTGCTTTATAAACAACAGTTCCCTTCTTTTCTCTTAGAGCCCAGTGGGAATCTAGAGGGACACCTTACATAAAGGAAAATGACTGCAACCTGGACCTGTCACTCGACAAATACTGCCTCTCCCCACCTCACTTCACCTGACGTCTCTGCCCAACCGAAGGCAGCTCTCAGAAAACCGCACAGAGGTTACCACCCCAGAAATTCTGAGATCCTAGGAGGTAGCAATGCAAATAGACAAAGCACAGTATTGCTTTGGATCGAAAATATTTGTTTGCTCATCCTAACTCCAATTCCCCTAGCCTAGAACAAACATAGCCCTTCCGCACTCAGGAAATCCCAAGAGGTCAGGTTCAGTCTGGTAAACAACACTGTCCGGGCACCTTGCAGAACACTGGGGACTGTGACGGGCGGCGACAAATTGGCACAAGAGAGACTGAAATGCACAGGGACACCAGCCTAGTGGCCGTGAAAACTCAAGTTGACACTTCCAGGGAGGGAATGGGGGAGGTGGAGCCCAATTCCTGCTTCTGGAGAGAGTAAGAGACTTCCTCCATCCTCCTTCTCCCTCCTCCTCCTCCAAGGCACGCTGAGATTTGGAGCGGAGGAGCTGAGCCCCGCGGGAAAAGCAGAAAAGGGTCATTGCCACTTTAAATGACTCAGGAAGTAAAAGGAGGCCTCCTGACGGGGAAAGGGAAAGTGGAACCGGGGCGGCGCGGGGGCCGGCGGCTGCCGCGATCTCTCCCTGGTAGCGGGAGGCTGAGCGGGCGGCGCGACGCGGGGGCCGACGGGGGCGCCGGGTGGCCGCGCCGGAAGTGCCTTGCGCGGCAGAGGAAGCGCAGGGACAGAGCGGAGCAGGCCGAGCCGGCGGAAAGGGTCTTTGCTGCTGCGCCCGGGCAGGGGCTGCCGCGGCCCCAGGTCCCGCTTCGAGACGCGGCGCGGTCCAGGCGGGAGGCGACTCCCTAGGAAGGGACCCGGGGCGGGAGGAGGAAGTGAGGCCGCGCGGAAGGAAGGCGGCGAGCCCCGGGGCCCCGAGGCCTTGGCCGCGTCACAGCACCCACATGGCCTCTGGAGTGGGCGCGGCCTTCGAGGAACTGCCTCACGACGGCACGTGTGACGAGTGCGAGCCCGACGAGGCTCCGGGGGCCGAGGAAGTGTGCCGAGAATGCGGCTTCTGCTACTGCCGCCGCCATGCCGAGGCGCACAGGCAGAAGTTCCTCAGTCACCATCTGGCCGAATACGTCCACGGCTCCCAGGCCTGGACCCCGCCAGCTGACGGAGAGGGGGCGGGGAAGGAAGAAGCGGAGGTCAAGGTGGAGCAGGAGAGGGAGATAGAAAGCGAGGCAGGGGAAGAGAGTGAGTCGGAGGAAGAGAGCGAGTCAGAGGAAGAGAGCGAGACAGAGGAAGAGAGTGAGGATGAGAGCGATGAGGAGAGTGAAGAAGACAGCGAGGAAGAAATGGAGGATGAGCAAGAAAGCGAGGCCGAAGAAGACAACCAAGAAGAAGGGGAATCCGAGGCGGAGGGAGAAACTGAGGCAGAAAGTGAATTTGACCCAGAAATAGAAATGGAAGCAGAGAGAGTGGCCAAGAGGAAGTGTCCGGACCATGGGCTTGATTTGAGTACCTATTGCCAGGAAGATAGGCAGCTCATCTGTGTCCTGTGTCCAGTCATTGGGGCTCACCAGGGCCACCAACTCTCCACCCTAGACGAAGCCTTTGAAGAATTAAGAGTAAGTATTGGGCCTTCAGAGCATAAACCTAGGGGTCAGGACACCTGGGTTTCAACTCAGGTGGCCTGGCTGTGACCACATTCGCTTTCACTGTGTCCCTAAGAAGCTAGTCTTTCCAACTTTTTGGGAGCAGTTCTTATTCACCGTTTTTGGTTGAACTCTTTTGAGAATCTGATGAAAGTTCTGGACTCTGACCTGAGAAAATACACACAAAATCTAGTATACAATTTCTAGAAAATTGCAAGTTTCTGGTCTGTGGATCCCAGGTAAAGCATTTCTTGGGAGTTTTGACCCCACTTAGGCCAATTTCCACAGCATCACTATTGTTGAAACTGGTGCTTTGTGCTAGGGCTCTTGATAAGGCAATCTTTTTGCCTACTTGAAAACATGGGAAATAGGATTTTGCCACATGAATCCAAGCAAGTGATACGTCTGCATTGAAAAGACTAACAAAATAGTTTTAATAGTAACTTCATATGTGCCCCGAGTTCATTTTAGATTCTTCGTGTTTGAAACTTAGTAGAAAAGGAGGGTAAGAAGATGGAGGCCAAATTGGGGTGGGAGTGGAAGTTCCCATGTCCTCTGTCTGGATCTTTGTCTGTCGTGGACCTTACTGGTCCCCCAGAACAGTGGACACTTCGGAAATATTTGTTGAATGAATGAATTTGCAGACGATGCACCTTTTATTCATATTGTGGATGTTTACTATCATTGAGAGAAACTGCTGGTGTTAATCGGGGAGGGAGGGGGAAATTTTGAGTGGAGTGATCAGTTCATTAAGTAATCTGTATTAGTGAACATTGTCATATTATGATGACTTTTGCTTCCCTGAATAGGGAATAGCTGGCATTGGGATAACAAATACCTTGAGAGTGAAGATCCTCTGTATTAGGTTTTCCCTTTTTTAGTGCCTATTTATAATTGTAAAATGCACATTCAGAAAGTGTGTAAAAACTTACAGTCTAACAAATAATTATAAAACAAGTACTGAGGTAGTCTCCATCCAGATTAAGAAATAGAACATTACTAGCAATATTGAAGCCTTTTCCCCATACCTTTTCCAATTATAACCATCTCTCTTCTGCATAAGTAAGCATAATCTTGACTTCTGTGATCATTTCCTTGCTTACCTTTATGCTTTTACTCCATGTGTATGCATTCCTAAACTTATTTGAACTTGACACTATGGGTGTCATATTTTTATCATGCATTCTTCTGGGTTTTGCTTCATTTTCTCAACATTGTGTTTGTGAGAGTCATCCTATGAGTGACTGTAGTTTATTCACTTTCATTACTATTTCGAATTCCATTTTATGAATATGCCACAAGTTATCTATTCTGTCATAGATGGTCATTTGATTTGTTCCCAGGTTTGGGAGCGTCGGGCTGTTACAAACAATGTCAGTGTAAATATTCTTGGTCATGTCTCGGTGTACATTTAACATACATTTAAGTGGAATATAAACGCAGGAGTGAAATTGCTGTGTCAGAGGCTATGCATATCTTCAGTAATACTACATGTTGCCAACTATTTTCCAGAGTGGTTGTACCAGTTTGAATCACTATGAAGAGTATATGAGAGTTCCTGTTGCTCTGTATCTTCAAAACTTGCTATTACTGTATTTTTCATTTTTGTCAATCTTGTGGCTATGTAATGGTATTTTATTGTGGTTTTAATTTTCATTCCTCTGATTACTAATGACTTTGAGGATCTTTTATACTTCCTCTGTGAAGTACCTAGTCAGTTCTTTTGCCCATTTTTCTATTGAGTTGTCTTTTCTCATTATATGAGTTTTTATATATCTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAG
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CAATGTAAAACAGACACCATTCCATCCCCTTTCATCCTTCTTAATACACCTCAGCCTCTCCCTTGACTAGATAAAAACGTAATTTTCCCTCTCCCAAATACAGTGCAAAACAAAAACTCTTCTGTGAATGGAGAGACATGGATATGGGGTAGAGGTGGAGACTTGCCTACATTACCAGCAGCCAGCCGAAAATGCCCTGTGTGTGTAAAATATGTTCCTTCAAAGGGGCATTGTGAGCACTAAATATAATTTGTGCCAAAAATAATAATGAAAGCTTAGTGAATACTCTACAGTGCAGGCATCGTTACATTTAATCCACAAAACTACCCCATGAGGTAGATATTTACCGTTCTTTTCACTTAACATCTTTTTTAAAAAGCGGAAAACAGAATGATGAATTAACTTGTCCATGGTCATAAAACTGATAGGTAGTGGCACCAGGATTTGGGGACCATCGGGCAGAGGATCTTCCAAAACCGGCTTTTAAAGAGCCACAAAAAGATGTAGCCGGGTTCTTGGCACTACAGTACTGCTTTATAAACAACAGTTCCCTTCTTTTCTCTTAGAGCCCAGTGGGAATCTAGAGGGACACCTTACATAAAGGAAAATGACTGCAACCTGGACCTGTCACTCGACAAATACTGCCTCTCCCCACCTCACTTCACCTGACGTCTCTGCCCAACCGAAGGCAGCTCTCAGAAAACCGCACAGAGGTTACCACCCCAGAAATTCTGAGATCCTAGGAGGTAGCAATGCAAATAGACAAAGCACAGTATTGCTTTGGATCGAAAATATTTGTTTGCTCATCCTAACTCCAATTCCCCTAGCCTAGAACAAACATAGCCCTTCCGCACTCAGGAAATCCCAAGAGGTCAGGTTCAGTCTGGTAAACAACACTGTCCGGGCACCTTGCAGAACACTGGGGACTGTGACGGGCGGCGACAAATTGGCACAAGAGAGACTGAAATGCACAGGGACACCAGCCTAGTGGCCGTGAAAACTCAAGTTGACACTTCCAGGGAGGGAATGGGGGAGGTGGAGCCCAATTCCTGCTTCTGGAGAGAGTAAGAGACTTCCTCCATCCTCCTTCTCCCTCCTCCTCCTCCAAGGCACGCTGAGATTTGGAGCGGAGGAGCTGAGCCCCGCGGGAAAAGCAGAAAAGGGTCATTGCCACTTTAAATGACTCAGGAAGTAAAAGGAGGCCTCCTGACGGGGAAAGGGAAAGTGGAACCGGGGCGGCGCGGGGGCCGGCGGCTGCCGCGATCTCTCCCTGGTAGCGGGAGGCTGAGCGGGCGGCGCGACGCGGGGGCCGACGGGGGCGCCGGGTGGCCGCGCCGGAAGTGCCTTGCGCGGCAGAGGAAGCGCAGGGACAGAGCGGAGCAGGCCGAGCCGGCGGAAAGGGTCTTTGCTGCTGCGCCCGGGCAGGGGCTGCCGCGGCCCCAGGTCCCGCTTCGAGACGCGGCGCGGTCCAGGCGGGAGGCGACTCCCTAGGAAGGGACCCGGGGCGGGAGGAGGAAGTGAGGCCGCGCGGAAGGAAGGCGGCGAGCCCCGGGGCCCCGAGGCCTTGGCCGCGTCACAGCACCCACATGGCCTCTGGAGTGGGCGCGGCCTTCGAGGAACTGCCTCACGACGGCACGTGTGACGAGTGCGAGCCCGACGAGGCTCCGGGGGCCGAGGAAGTGTGCCGAGAATGCGGCTTCTGCTACTGCCGCCGCCATGCCGAGGCGCACAGGCAGAAGTTCCTCAGTCACCATCTGGCCGAATACGTCCACGGCTCCCAGGCCTGGACCCCGCCAGCTGACGGAGAGGGGGCGGGGAAGGAAGAAGCGGAGGTCAAGGTGGAGCAGGAGAGGGAGATAGAAAGCGAGGCAGGGGAAGAGAGTGAGTCGGAGGAAGAGAGCGAGTCAGAGGAAGAGAGCGAGACAGAGGAAGAGAGTGAGGATGAGAGCGATGAGGAGAGTGAAGAAGACAGCGAGGAAGAAATGGAGGATGAGCAAGAAAGCGAGGCCGAAGAAGACAACCAAGAAGAAGGGGAATCCGAGGCGGAGAGAGAAACTGAGGCAGAAAGTGAATTTGACCCAGAAATAGAAATGGAAGCAGAGAGAGTGGCCAAGAGGAAGTGTCCGGACCATGGGCTTGATTTGAGTACCTATTGCCAGGAAGATAGGCAGCTCATCTGTGTCCTGTGTCCAGTCATTGGGGCTCACCAGGGCCACCAACTCTCCACCCTAGACGAAGCCTTTGAAGAATTAAGAGTAAGTATTGGGCCTTCAGAGCATAAACCTAGGGGTCAGGACACCTGGGTTTCAACTCAGGTGGCCTGGCTGTGACCACATTCGCTTTCACTGTGTCCCTAAGAAGCTAGTCTTTCCAACTTTTTGGGAGCAGTTCTTATTCACCGTTTTTGGTTGAACTCTTTTGAGAATCTGATGAAAGTTCTGGACTCTGACCTGAGAAAATACACACAAAATCTAGTATACAATTTCTAGAAAATTGCAAGTTTCTGGTCTGTGGATCCCAGGTAAAGCATTTCTTGGGAGTTTTGACCCCACTTAGGCCAATTTCCACAGCATCACTATTGTTGAAACTGGTGCTTTGTGCTAGGGCTCTTGATAAGGCAATCTTTTTGCCTACTTGAAAACATGGGAAATAGGATTTTGCCACATGAATCCAAGCAAGTGATACGTCTGCATTGAAAAGACTAACAAAATAGTTTTAATAGTAACTTCATATGTGCCCCGAGTTCATTTTAGATTCTTCGTGTTTGAAACTTAGTAGAAAAGGAGGGTAAGAAGATGGAGGCCAAATTGGGGTGGGAGTGGAAGTTCCCATGTCCTCTGTCTGGATCTTTGTCTGTCGTGGACCTTACTGGTCCCCCAGAACAGTGGACACTTCGGAAATATTTGTTGAATGAATGAATTTGCAGACGATGCACCTTTTATTCATATTGTGGATGTTTACTATCATTGAGAGAAACTGCTGGTGTTAATCGGGGAGGGAGGGGGAAATTTTGAGTGGAGTGATCAGTTCATTAAGTAATCTGTATTAGTGAACATTGTCATATTATGATGACTTTTGCTTCCCTGAATAGGGAATAGCTGGCATTGGGATAACAAATACCTTGAGAGTGAAGATCCTCTGTATTAGGTTTTCCCTTTTTTAGTGCCTATTTATAATTGTAAAATGCACATTCAGAAAGTGTGTAAAAACTTACAGTCTAACAAATAATTATAAAACAAGTACTGAGGTAGTCTCCATCCAGATTAAGAAATAGAACATTACTAGCAATATTGAAGCCTTTTCCCCATACCTTTTCCAATTATAACCATCTCTCTTCTGCATAAGTAAGCATAATCTTGACTTCTGTGATCATTTCCTTGCTTACCTTTATGCTTTTACTCCATGTGTATGCATTCCTAAACTTATTTGAACTTGACACTATGGGTGTCATATTTTTATCATGCATTCTTCTGGGTTTTGCTTCATTTTCTCAACATTGTGTTTGTGAGAGTCATCCTATGAGTGACTGTAGTTTATTCACTTTCATTACTATTTCGAATTCCATTTTATGAATATGCCACAAGTTATCTATTCTGTCATAGATGGTCATTTGATTTGTTCCCAGGTTTGGGAGCGTCGGGCTGTTACAAACAATGTCAGTGTAAATATTCTTGGTCATGTCTCGGTGTACATTTAACATACATTTAAGTGGAATATAAACGCAGGAGTGAAATTGCTGTGTCAGAGGCTATGCATATCTTCAGTAATACTACATGTTGCCAACTATTTTCCAGAGTGGTTGTACCAGTTTGAATCACTATGAAGAGTATATGAGAGTTCCTGTTGCTCTGTATCTTCAAAACTTGCTATTACTGTATTTTTCATTTTTGTCAATCTTGTGGCTATGTAATGGTATTTTATTGTGGTTTTAATTTTCATTCCTCTGATTACTAATGACTTTGAGGATCTTTTATACTTCCTCTGTGAAGTACCTAGTCAGTTCTTTTGCCCATTTTTCTATTGAGTTGTCTTTTCTCATTATATGAGTTTTTATATATCTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAG
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Task1_train_15599
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The gene RAG1 (recombination activating 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTT
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TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCTGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTT
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Subsets and Splits
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